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	NSWES980-F	WT	HH	HZ	NC
chr1	1468449	1468450	CT	-	exonic	ATAD3C	.	frameshift deletion	ATAD3C:NM_001039211:exon12:c.1155_1156del:p.F386Cfs*88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.71e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs762558397	2.259e-05	2.531e-05	1.634e-05	2.89e-05	0.0002	1.611e-05	1.417e-05	0.0001	9.464e-05	0	0	0	2.52e-05	0	0	1.349e-05	1.657e-05	0.0002	2.631e-05	2.627e-05	1.285e-05	4.04e-05	0.0002	8.15e-06	5.14e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1341.29	33	chr1	1468448	.	ACT	A	1341.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.299;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-4.313;QD=23.13;ReadPosRankSum=1.76;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,34:58:99:0|1:1468448_ACT_A:1355,0,905:1468448	18	0	1	0
chr1	1468451	1468451	-	GC	exonic	ATAD3C	.	frameshift insertion	ATAD3C:NM_001039211:exon12:c.1157_1158insGC:p.F386Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.713e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs768174602	2.259e-05	2.531e-05	1.635e-05	2.89e-05	0.0002	1.611e-05	1.417e-05	0.0001	9.464e-05	0	0	0	2.521e-05	0	0	1.35e-05	1.657e-05	0.0002	2.631e-05	2.627e-05	1.286e-05	4.04e-05	0.0002	8.15e-06	5.14e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1341.29	33	chr1	1468451	.	T	TGC	1341.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.286;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.68;MQRankSum=-4.313;QD=23.13;ReadPosRankSum=1.94;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,34:58:99:0|1:1468448_ACT_A:1355,0,905:1468448	18	0	1	0
chr1	2789597	2789597	G	C	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon2:c.C1534G:p.R512G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0013	0	0	0	.	0.0017	0	0.0013	0.0008409	130	154602	rs557596918	0.0058	0.0053	0.0060	0.0055	0.0065	0.0057	0.0056	0.0064	0.0063	0.0006	0.0011	0.0004	3.611e-05	0.0104	0	0.0065	0.0042	0.0013	0.0038	0.0038	0.0034	0.0043	0.0052	0.0036	0.0035	0.0047	0.0046	0.0008	0	0.0013	0.0003	0	0.0159	0	0.0052	0.0024	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007187426	0.00163	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525647	0.17278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31808	B	.	.	3.248240	0.44367	21.9	0.72947357218346587	0.10152	0.95448	0.64761	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.768448172531193	0.23630	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.079188	0.02158	0	0.708178	0.43083	3.96	3.0	0.33773	2.890000	0.48308	4.687000	0.44347	0.589000	0.31548	0.999000	0.42656	1.000000	0.68203	0.079000	0.17189	0.0:0.1678:0.8322:0.0	12.688	0.56325	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	481.33	37	chr1	2789597	.	G	C	481.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.843;DP=659;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.34;SOR=1.17	GT:AD:DP:GQ:PL	0/1:19,20:39:99:495,0,522	18	0	1	0
chr1	10095509	10095509	G	C	exonic	UBE4B	.	nonsynonymous SNV	UBE4B:NM_001105562:exon3:c.G260C:p.S87T,UBE4B:NM_006048:exon3:c.G260C:p.S87T	.	.	.	.	.	.	.	.	.	.	.	3341419	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0195117504902	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs775888771	4.036e-05	4.036e-05	4.22e-05	3.85e-05	0.0043	3.178e-05	2.91e-05	0.0030	0.0026	0	0	0	0	0	0.0043	1.978e-05	6.623e-05	9.275e-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	0.448	0.29688	T	0.326	0.18789	T	0.954	0.54666	P	0.916	0.66596	D	0.000000	0.84330	D	0.000000	0.999686	0.81001	D	1.7	0.43825	L	0.83	0.51228	T	-0.99	0.26200	N	0.393	0.43417	-0.9064	0.47285	T	0.219	0.58227	T	10	0.27910477	0.45482	T	0.019512	0.41891	T	0.177	0.44549	0.167	0.07186	0.357630699053	0.35373	0.5409626305628334	0.54021	0.348389392483	0.36710	0.766284942627	0.76868	T	0.174892	0.52428	T	-0.199021	0.20947	T	-0.286988	0.46085	T	0.249615877106425	0.22855	T	0.964804	0.89535	D	0.25558484	0.48593	0.24561705	0.50054	0.25558484	0.48593	0.24561705	0.50053	-4.936	0.36557	T	.	.	0.282	0.51523	B	.;.	.;.	4.297375	0.65585	24.9	0.99086928484430781	0.52124	0.99093	0.91122	D	AEFBI	0.901374	0.84800	D	0.657746581043957	0.76873	6.566983	0.697048523188248	0.82152	7.697395	0.999999994899708	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	9.516000	0.97042	11.682000	0.94235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.399	0.94612	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.000000	0.011696	0.000000	0.008621	0.000000	0.003788	0.05263	3215.83	33	chr1	10095509	.	G	C	3215.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.844;DP=874;ExcessHet=0.119;FS=3.255;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=2.57;SOR=0.521	GT:AD:DP:GQ:PL	0/1:85,73:158:99:1741,0,2189	17	0	2	0
chr1	11765872	11765872	G	A	exonic	C1orf167	.	nonsynonymous SNV	C1orf167:NM_001010881:exon3:c.G86A:p.R29Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.161185483756	.	0.000399361	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs574154402	0.0001	0.0001	8.119e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0	3.2e-05	0.0002	0.0017	4.596e-05	4.593e-05	0	9.4e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.221	0.18889	T	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.205	0.09354	N	-4.91	0.98352	D	-1.23	0.31170	N	0.042	0.01498	0.158	0.85194	D	0.766	0.92030	D	6	0.009609789	0.00216	T	0.161185	0.84103	D	0.234	0.53644	0.248	0.18447	0.313818047136	0.31001	0.023228044502364802	0.02274	0.385000908004	0.39793	.	.	.	0.002138	0.01537	T	-0.393088	0.02569	T	-0.343278	0.39973	T	0.0320479181761785	0.02315	T	0.347765	0.07665	T	0.019990686	0.00543	0.047087993	0.06705	0.019990686	0.00542	0.047087993	0.06704	-3.504	0.16487	T	.	.	0.166	0.36614	B	.	.	-1.041646	0.00714	0.021	0.69403313690913215	0.08961	0.00648	0.02824	N	AEFDBI	0.028633	0.02560	N	-1.77577020062326	0.00607	0.02616617	-2.00805317025905	0.00295	0.01300601	0.999999863713606	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.76	-7.52	0.01198	-2.943000	0.00747	-5.388000	0.01737	-4.986000	0.00016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2904:0.2112:0.3847:0.1137	2.289	0.03880	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1288.83	39	chr1	11765872	.	G	A	1288.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.18;DP=769;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.842;SOR=0.765	GT:AD:DP:GQ:PL	0/1:26,22:48:99:564,0,577	17	0	2	0
chr1	15946303	15946303	G	A	exonic	ZBTB17	.	nonsynonymous SNV	ZBTB17:NM_001242884:exon4:c.C140T:p.P47L	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00927519163247	.	0.000399361	0.0004	9.636e-05	0	0	0	4.529e-05	0.0011	0.0029	0.0003493	54	154602	rs534144339	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0026	0	0.0001	0	2.526e-05	0	0.0009	2.886e-05	0.0003	0.0031	0.0001	0.0001	0.0001	9.394e-05	0.0023	7.569e-05	6.275e-05	0.0013	0.0010	4.809e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0023	0.225	0.18626	T	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.999906	0.27365	N	.	.	.	3.05	0.08721	T	-0.38	0.13418	N	0.321	0.36148	-0.9336	0.43605	T	0.011	0.03903	T	8	0.006472975	0.00146	T	0.009275	0.24343	T	0.035	0.08770	0.189	0.09907	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.721847	0.00027	T	-0.815207	0.01552	T	0.00973580716827649	0.00127	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-3.699	0.19304	T	.	.	0.165	0.36455	B	.	.	1.797389	0.22847	15.78	0.77629425384889073	0.11956	0.18228	0.20173	N	AEFDBCI	0.066029	0.12908	N	-0.856257650193794	0.11897	0.5767326	-0.797608188024473	0.14554	0.7610319	0.999989075877565	0.51787	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	3.68	1.76	0.23776	0.740000	0.25856	0.621000	0.20131	0.676000	0.76740	0.279000	0.25131	0.012000	0.20211	0.996000	0.76049	0.2635:0.0:0.7365:0.0	5.490	0.16063	410	0.82135	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2617.83	33	chr1	15946303	.	G	A	2617.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.148;DP=789;ExcessHet=0.119;FS=0.544;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=1.18;SOR=0.771	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1412,0,1129	17	0	2	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:349,153:502:99:.:.:3557,0,9778:.	1	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:459,206:665:99:.:.:4426,0,12578:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:526,91:617:99:1058,0,16604	5	0	14	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,292:469:99:.:.:7989,0,6470:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:284,170:454:99:4148,0,11245	0	0	19	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1842	14227.4	1947	chr1	16567226	.	A	C	14227.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.004;DP=10643;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.91;MQRankSum=-2.597;QD=1.96;ReadPosRankSum=-0.774;SOR=0.646	GT:AD:DP:GQ:PL	0/1:650,105:755:99:950,0,18986	12	0	7	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1579	7117.62	633	chr1	16569091	.	T	C	7117.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.269;DP=5318;ExcessHet=2.0135;FS=1.468;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.158;MQ=44.1;MQRankSum=-4.469;QD=2.38;ReadPosRankSum=-0.053;SOR=0.712	GT:AD:DP:GQ:PL	0/1:313,76:389:99:840,0,8332	13	0	6	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1316	8656.37	608	chr1	16591991	.	C	T	8656.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.82;DP=8027;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.13;MQRankSum=-1.205;QD=2.61;ReadPosRankSum=-1.032;SOR=0.694	GT:AD:DP:GQ:PL	0/1:509,105:614:99:1772,0,13353	14	0	5	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:323,57:380:99:663,0,9581	10	0	9	0
chr1	16759394	16759394	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T932C:p.L311P	.	402	1110	10	0	0	10	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	.	.	0.00159744	0.0042	0.0021	0.0027	0	0.0013	0.0063	0.0012	0.0014	0.0034411	532	154602	rs199621808	0.0068	0.0078	0.0070	0.0067	0.0083	0.0067	0.0067	0.0082	0.0081	0.0012	0.0026	0.0002	0	0.0011	0.0037	0.0083	0.0062	0.0015	0.0042	0.0048	0.0046	0.0039	0.0076	0.0040	0.0039	0.0071	0.0068	0.0014	0	0.0024	0	0	0.0009	0.0068	0.0076	0.0048	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1012.33	144	chr1	16759394	.	A	G	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.617;DP=2970;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.47;MQRankSum=3.44;QD=4.54;ReadPosRankSum=2.19;SOR=0.68	GT:AD:DP:GQ:PL	0/1:168,55:223:99:1026,0,4743	18	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:73,35:108:99:921,0,2278	1	7	11	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:309,60:369:99:908,0,8578	9	0	10	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	6483.37	502	chr1	16760964	.	A	G	6483.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.242;DP=11036;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.29;MQRankSum=-1.517;QD=2.3;ReadPosRankSum=0.031;SOR=0.697	GT:AD:DP:GQ:PL	0/1:592,97:689:99:955,0,17861	14	0	5	0
chr1	17438330	17438330	G	A	exonic	RCC2	.	nonsynonymous SNV	RCC2:NM_001136204:exon1:c.C185T:p.A62V,RCC2:NM_018715:exon2:c.C185T:p.A62V	.	337	1176	9	0	0	9	0.00381194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.000798722	0.0074	0	0	0	0	0.0065	0.0556	0.0088	0.0002846	44	154602	rs544910613	0.0003	0.0005	0.0003	0.0004	0.0046	0.0003	0.0003	0.0038	0.0036	9.329e-05	0.0007	0.0026	4.622e-05	0	0.0046	0.0002	0.0010	0.0044	0.0004	0.0004	0.0003	0.0004	0.0046	0.0003	0.0003	0.0031	0.0026	2.421e-05	0	0.0005	0.0026	0	0	0.0069	0.0002	0.0019	0.0046	0.456	0.08839	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.715531	0.06283	U	1.404420	0.95959	0.26180	N	0	0.06538	N	1.21	0.37230	T	-0.34	0.12661	N	0.14	0.15749	-1.0263	0.21658	T	0.045	0.19275	T	10	0.0041181147	0.00081	T	.	.	.	0.044	0.11924	.	.	0.220282294035	0.21616	0.23478545127666164	0.23393	0.850350720984	0.68505	0.760822057724	0.76051	T	0.026547	0.19622	T	-0.575252	0.00206	T	-0.596197	0.13133	T	0.0209621993286849	0.00797	T	.	.	.	0.04797854	0.08291	0.082362935	0.18792	0.04797854	0.08291	0.082362935	0.18791	-4.846	0.35123	T	.	.	0.081	0.08129	B	.;.	.;.	2.469564	0.31825	18.86	0.98066439488370427	0.37991	0.10169	0.15749	N	AEFDBHCIJ	0.072978	0.14582	N	-0.601079980783932	0.18912	0.985694	-0.459770097920679	0.23272	1.268258	0.999999728900358	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.62	2.62	0.30337	0.041000	0.13813	5.934000	0.51367	0.464000	0.21668	0.019000	0.19563	1.000000	0.68203	0.934000	0.47231	0.1647:0.0:0.8353:0.0	6.040	0.18956	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007020	0.000000	0.000000	0.016667	0.000000	0.055556	0.000000	0.012195	0.02632	367.33	34	chr1	17438330	.	G	A	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=641;ExcessHet=0;FS=1.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=0.205;SOR=1.035	GT:AD:DP:GQ:PL	0/1:23,17:40:99:381,0,497	18	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,28:57:99:0|1:26282270_C_T:2382,1212,1127:26282270	9	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,27:58:99:0|1:26282270_C_T:1040,0,1220:26282270	8	0	8	3
chr1	26952319	26952319	C	T	exonic	KDF1	.	nonsynonymous SNV	KDF1:NM_152365:exon2:c.G62A:p.R21Q	.	430	1089	3	0	0	3	0.00137552	.	.	.	2093075	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.055	.	7.8e-05	0.0159744	0.0075	0.0003	0.0003	0.0898	0	0.0002	0.0067	0.0021	0.0062742	970	154602	rs79374331	0.0022	0.0022	0.0023	0.0022	0.0647	0.0021	0.0021	0.0626	0.0618	0.0004	0.0003	0.0005	0.0647	6.195e-05	0.0002	5.983e-05	0.0052	0.0018	0.0035	0.0035	0.0030	0.0039	0.0869	0.0032	0.0031	0.0803	0.0777	0.0004	0	0.0009	0.0009	0.0869	9.422e-05	0	0.0001	0.0076	0.0039	0.237	0.17881	T	0.29	0.21011	T	0.0	0.02946	B	0.002	0.06944	B	0.487057	0.12099	N	0.735034	0.999999	0.08975	N	0.895	0.22405	L	1.75	0.26152	T	-1.52	0.36980	N	0.067	0.08227	-1.0681	0.09836	T	0.002	0.00769	T	10	0.001434356	0.00016	T	.	.	.	0.055	0.15663	.	.	0.0716867268079	0.06686	0.23139817615868727	0.23054	0.330282350711	0.35118	0.469108700752	0.34558	T	0.045741	0.27215	T	-0.76678	0.00014	T	-0.796725	0.01986	T	0.165060549974442	0.18238	T	0.592841	0.21881	T	0.019023059	0.00427	0.050857984	0.08067	0.02347194	0.01090	0.050857984	0.08066	-4.235	0.27255	T	0.07461476990931483	0.03250	0.058	0.17402	B	.;.	.;.	-0.347864	0.02414	0.271	0.86577065051531577	0.16629	0.08339	0.14281	N	ALL	0.052742	0.09441	N	-1.931860316926	0.00295	0.01266101	-2.01916305155554	0.00279	0.01230962	1.0	0.98316	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.0	-9.99	0.00358	-1.310000	0.02834	-4.755000	0.02001	-3.045000	0.00133	0.000000	0.06391	0.000000	0.08366	0.331000	0.25224	0.0:0.7722:0.0:0.2278	20.275	0.98487	590	0.68897	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	509.33	38	chr1	26952319	.	C	T	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=692;ExcessHet=0;FS=2.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.203;SOR=1.251	GT:AD:DP:GQ:PL	0/1:31,20:51:99:523,0,726	18	0	1	0
chr1	32895376	32895376	C	T	exonic	TMEM54	.	nonsynonymous SNV	TMEM54:NM_001329723:exon4:c.G463A:p.V155I,TMEM54:NM_001329725:exon4:c.G364A:p.V122I,TMEM54:NM_001329722:exon5:c.G523A:p.V175I,TMEM54:NM_001329724:exon5:c.G424A:p.V142I,TMEM54:NM_033504:exon5:c.G523A:p.V175I	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0176524243056	.	0.00159744	0.0010	0	0	0	0	0.0001	0.0012	0.0071	0.0008926	138	154602	rs201782944	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.71e-05	0	0	0	0.0014	4.227e-05	0.0003	0.0058	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	5.881e-05	0	0.0046	0.615	0.05388	T	0.105	0.38016	T	0.716	0.68779	P	0.384	0.78936	B	0.000061	0.53742	D	0.165546	0.823402	0.28853	N	2.35	0.67516	M	0.85	0.47130	T	-0.72	0.20358	N	0.156	0.20395	-0.7102	0.59942	T	0.262	0.63274	T	10	0.008969128	0.00203	T	0.017652	0.39432	T	0.134	0.36365	.	.	0.250579442822	0.24687	0.12451235045586118	0.12377	0.374654094666	0.38927	0.327181398869	0.14508	T	0.034478	0.23338	T	-0.467585	0.00880	T	-0.441401	0.28651	T	0.042104994601202	0.04074	T	0.669433	0.27806	T	0.03777665	0.04907	0.06150169	0.11885	0.03777665	0.04906	0.06150169	0.11884	-3.749	0.20044	T	.	.	0.095	0.16973	B	.;.	.;.	0.013710	0.04377	1.129	0.82352979316055452	0.14148	0.12834	0.17507	N	AEFDBI	0.228540	0.35219	N	-0.104409101810001	0.37201	2.160904	-0.143588619193883	0.33655	1.927489	0.999370985513007	0.39355	0.706298	0.61202	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.38	4.47	0.53770	0.164000	0.16359	0.263000	0.16568	-0.812000	0.03057	0.000000	0.06391	0.009000	0.19889	0.043000	0.14563	0.0:0.8616:0.1384:0.0	15.602	0.76375	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	1987.83	33	chr1	32895376	.	C	T	1987.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.097;DP=739;ExcessHet=0.119;FS=0.644;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.099;SOR=0.621	GT:AD:DP:GQ:PL	0/1:25,32:57:99:824,0,730	17	0	2	0
chr1	33546069	33546069	C	T	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_052896:exon56:c.G8636A:p.G2879D,CSMD2:NM_001281956:exon57:c.G9068A:p.G3023D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	.	0.0002	0.00419329	0.0018	0.0005	0	0.0244	0	0	0	0	0.0016171	250	154602	rs139241751	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0137	0.0133	0.0002	4.472e-05	0	0.0147	0	0	2.698e-06	0.0008	0.0001	0.0008	0.0008	0.0008	0.0008	0.0203	0.0007	0.0006	0.0171	0.0159	0.0003	0	0.0001	0	0.0203	0	0	1.47e-05	0.0005	0.0002	0.003	0.68238	D	0.002	0.79402	D	0.908	0.50127	P	0.938	0.67350	D	0.000177	0.48594	D	0.179885	0.999999	0.58761	D	3.405	0.91733	M	-0.67	0.72458	T	-6.08	0.89910	D	0.536	0.65245	0.184	0.85632	D	0.434	0.77504	T	10	0.009425193	0.00213	T	.	.	.	0.604	0.84398	.	.	0.722272604482	0.71982	0.7285506291944334	0.72799	.	.	0.672536253929	0.63199	T	0.303452	0.67580	T	-0.141206	0.29699	T	0.0460207	0.73321	D	0.129092347972699	0.15297	T	0.975036	0.91141	D	0.5989818	0.72637	0.53220123	0.72970	0.5989818	0.72638	0.53220123	0.72970	-12.88	0.88863	D	.	.	0.426	0.61004	A	.;.;.	.;.;.	4.470135	0.69653	25.4	0.99535084322348533	0.70150	0.95484	0.64904	D	AEFBI	0.728908	0.67678	D	0.585915551861429	0.72295	5.783258	0.444176717869365	0.64342	4.687385	0.999329003676801	0.39149	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	4.719000	0.61629	7.716000	0.67067	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:1.0:0.0:0.0	17.120	0.86576	416	0.81733	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1513.33	42	chr1	33546069	.	C	T	1513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.158;DP=786;ExcessHet=0;FS=1.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-2.385;SOR=0.87	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1527,0,1926	18	0	1	0
chr1	36087257	36087257	G	T	exonic	TEKT2	.	nonsynonymous SNV	TEKT2:NM_014466:exon7:c.G801T:p.K267N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	0.0002	0.00359425	0.0012	0.0002	8.66e-05	0.0160	0	0	0.0011	6.057e-05	0.0011449	177	154602	rs142743253	0.0004	0.0004	0.0004	0.0004	0.0123	0.0004	0.0004	0.0114	0.0110	5.974e-05	8.944e-05	0	0.0123	0	0	8.993e-06	0.0012	0.0003	0.0007	0.0007	0.0006	0.0007	0.0160	0.0006	0.0005	0.0132	0.0122	7.214e-05	0	0.0008	0	0.0160	0	0	1.47e-05	0.0009	0.0008	0.267	0.16198	T	0.208	0.26883	T	0.985	0.61118	D	0.732	0.55359	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.43	0.35840	L	4.2	0.02689	T	-3.43	0.67359	D	0.837	0.83269	-0.8374	0.52819	T	0.011	0.04274	T	10	0.014988542	0.00315	T	.	.	.	0.167	0.42761	0.53	0.63707	0.146414634003	0.14194	0.7749512484723448	0.77445	0.437007265989	0.43776	0.584931492805	0.50781	T	0.242045	0.61070	T	-0.540981	0.00330	T	-0.536232	0.18668	T	0.0549278974980987	0.06346	T	0.846115	0.52582	T	0.6611847	0.75962	0.5653674	0.74844	0.6611847	0.75963	0.5653674	0.74844	-4.923	0.35993	T	.	.	0.676	0.71965	P	.	.	3.483717	0.48658	22.7	0.99773203191080362	0.86088	0.93189	0.57558	D	AEFDBHCIJ	0.548362	0.56168	D	0.323715778067004	0.57369	3.903854	0.346026184395238	0.58269	3.996464	0.99999999999821	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.49	4.58	0.56077	2.674000	0.46532	4.000000	0.41065	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1416:0.0:0.8584:0.0	12.266	0.53993	176	0.93188	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2270.83	36	chr1	36087257	.	G	T	2270.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.35;DP=791;ExcessHet=0.119;FS=3.295;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.732;SOR=0.802	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1185,0,1128	17	0	2	0
chr1	36289439	36289439	C	G	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon5:c.C1420G:p.L474V,THRAP3:NM_005119:exon5:c.C1420G:p.L474V,THRAP3:NM_001321471:exon6:c.C1420G:p.L474V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0002	0.00738818	0.0036	9.701e-05	0.0003	0.0286	0.0030	0.0006	0.0055	0.0073	0.0032665	505	154602	rs141254021	0.0013	0.0013	0.0012	0.0015	0.0221	0.0013	0.0013	0.0209	0.0204	0	0.0001	0	0.0221	0.0029	0.0009	0.0002	0.0033	0.0060	0.0018	0.0018	0.0016	0.0019	0.0303	0.0016	0.0015	0.0264	0.0250	2.406e-05	0	0.0007	0	0.0303	0.0031	0	0.0004	0.0014	0.0075	0.128	0.26965	T	0.411	0.14500	T	0.208	0.29916	B	0.038	0.23361	B	0.002133	0.37183	N	0.117273	0.920201	0.27311	N	0.975	0.24501	L	2.53	0.14038	T	-0.63	0.18459	N	0.062	0.03392	-1.0232	0.22671	T	0.010	0.03627	T	10	0.0028965771	0.00046	T	.	.	.	0.020	0.03691	.	.	0.0675242888579	0.06100	0.07963694209993348	0.07898	0.549413493553	0.51842	0.458045750856	0.33042	T	0.075636	0.35226	T	-0.605741	0.00134	T	-0.619196	0.11248	T	0.00787267258821726	0.00093	T	0.779122	0.41282	T	0.04611462	0.07664	0.05954125	0.11192	0.04611462	0.07664	0.05954125	0.11192	-3.979	0.23488	T	.	.	0.070	0.04847	B	.;.;.	.;.;.	1.756194	0.22343	15.58	0.87604087547775589	0.17347	0.29328	0.23792	N	AEFBI	0.050624	0.08867	N	-0.383333571066914	0.26063	1.419534	-0.264072447133023	0.29291	1.639862	0.200446079190616	0.18116	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	2.68	0.30839	0.591000	0.23670	1.638000	0.27776	0.599000	0.40250	0.933000	0.32380	1.000000	0.68203	0.998000	0.85391	0.0:0.5188:0.2448:0.2364	5.948	0.18468	128	0.94857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1037.33	36	chr1	36289439	.	C	G	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.732;DP=698;ExcessHet=0;FS=8.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.27;SOR=0.479	GT:AD:DP:GQ:PL	0/1:30,39:69:99:1051,0,717	18	0	1	0
chr1	37943826	37943826	G	T	exonic	INPP5B	.	nonsynonymous SNV	INPP5B:NM_001365820:exon4:c.C220A:p.P74T,INPP5B:NM_001365821:exon4:c.C220A:p.P74T,INPP5B:NM_005540:exon4:c.C220A:p.P74T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	0.222855144846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.92359	D	0.000004	0.62929	D	0.000000	0.808655	0.46462	D	.	.	.	-4.9	0.98487	D	-4.25	0.93950	D	0.744	0.77789	1.091	0.99263	D	0.953	0.98473	D	10	0.8439462	0.83556	D	0.222855	0.87874	D	0.818	0.94162	0.564	0.68499	0.980218949975	0.98000	0.7696804676577202	0.76917	0.837987452663	0.67897	0.577914774418	0.49792	T	0.255378	0.84336	T	0.257331	0.79283	D	0.131861	0.79014	D	0.995504677295685	0.87546	D	0.857914	0.54791	D	0.6713874	0.76507	0.65381396	0.79736	0.6713874	0.76508	0.65381396	0.79737	-6.43	0.49744	T	.	.	0.333	0.68838	B	.;.;.;.;.	.;.;.;.;.	4.182393	0.62975	24.5	0.99776033952442544	0.86346	0.95056	0.63277	D	AEFDBI	0.659981	0.63071	D	0.708341295880938	0.80178	7.237332	0.676133211555559	0.80570	7.328363	0.99999999972808	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.17	5.17	0.70848	5.718000	0.68103	11.697000	0.94442	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	14.515	0.67401	691	0.58815	INPP5B, PH domain|INPP5B, PH domain;INPP5B, PH domain|INPP5B, PH domain;INPP5B, PH domain|INPP5B, PH domain;.;INPP5B, PH domain|INPP5B, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1662.33	33	chr1	37943826	.	G	T	1662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.718;DP=775;ExcessHet=0;FS=2.949;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1.09;SOR=0.479	GT:AD:DP:GQ:PL	0/1:81,68:149:99:1676,0,2125	18	0	1	0
chr1	37999018	37999018	G	A	exonic	FHL3	.	nonsynonymous SNV	FHL3:NM_004468:exon3:c.C287T:p.A96V	.	422	1089	10	1	0	12	0.00547945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0569501063576	0.0011	0.00199681	0.0014	0.0016	0.0022	0.0001	0	0.0013	0.0022	0.0019	0.0013583	210	154602	rs142528167	0.0011	0.0011	0.0011	0.0012	0.0158	0.0011	0.0010	0.0132	0.0122	0.0022	0.0026	0.0104	7.557e-05	1.872e-05	0.0158	0.0007	0.0029	0.0019	0.0017	0.0017	0.0018	0.0016	0.0035	0.0015	0.0015	0.0028	0.0025	0.0020	0	0.0035	0.0095	0	9.411e-05	0.0170	0.0009	0.0057	0.0021	0.009	0.57480	D	0.178	0.29639	T	0.963	0.55692	D	0.509	0.47904	P	0.000001	0.62929	D	0.054211	0.980475	0.39670	D	0.44	0.12706	N	-2.16	0.86549	D	-1.41	0.34795	N	0.421	0.46086	-0.0346	0.81534	T	0.396	0.74836	T	10	0.009702295	0.00218	T	0.05695	0.66792	D	0.398	0.71242	.	.	0.605614257927	0.60245	0.2373837562881642	0.23653	0.648602540398	0.58205	0.498093008995	0.38562	T	0.153562	0.49447	T	-0.294919	0.09148	T	-0.201645	0.54490	T	0.0215018403423202	0.00854	T	0.927007	0.73102	D	0.16931902	0.37440	0.18630698	0.41795	0.16931902	0.37440	0.18630698	0.41794	-4.804	0.34638	T	.	.	0.127	0.27131	B	.	.	4.599013	0.72823	25.9	0.99883402034992352	0.95892	0.85747	0.44914	D	AEFDGBCI	0.703013	0.65919	D	0.368319727938868	0.59713	4.153065	0.456148019507363	0.65112	4.782846	0.999999999978224	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.94	5.94	0.96165	5.867000	0.69350	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.427000	0.27384	0.0:0.0:0.7396:0.2604	13.273	0.59605	423	0.81269	Zinc finger, LIM-type|Zinc finger, LIM-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	0.023162	0.070707	0.029891	0.020468	0.050000	0.017241	0.009146	0.000000	0.02632	1796.33	43	chr1	37999018	.	G	A	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=875;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-1.673;SOR=0.651	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1810,0,1289	18	0	1	0
chr1	40315652	40315652	C	T	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon2:c.G88A:p.G30R	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	864382	Epiphyseal_dysplasia,_multiple,_2|not_provided	MONDO:MONDO:0010844,MedGen:C1838429,OMIM:600204|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.296	0.492644435496	.	0.000798722	0.0005	0	0	0.0028	0	0	0	0.0009	0.0001164	18	154602	rs193238892	8.635e-05	9.029e-05	7.466e-05	9.835e-05	0.0019	7.374e-05	6.904e-05	0.0015	0.0014	0	0	0	0.0019	0	0.0002	9.261e-07	0.0002	0.0005	5.909e-05	5.905e-05	3.855e-05	8.054e-05	0.0010	3.075e-05	2.208e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.106414	0.999899	0.50595	D	4.36	0.98503	H	-5.77	0.99345	D	-5.41	0.96191	D	0.768	0.76573	0.832	0.94800	D	0.981	0.99421	D	10	0.39637804	0.55256	T	0.492644	0.95024	D	0.883	0.96576	0.494	0.58206	0.952629067819	0.95213	0.9100984180028403	0.90983	0.308530585448	0.33167	0.928664326668	0.98910	D	0.594742	0.86925	D	0.119891	0.66360	D	0.320177	0.89098	D	0.824615180492401	0.48118	D	0.967253	0.88140	D	0.7771808	0.82481	0.78027993	0.87046	0.7771808	0.82482	0.78027993	0.87047	-12.469	0.87060	D	.	.	0.701	0.81990	P	.;.	.;.	5.040781	0.83904	28.2	0.99809410888314665	0.89353	0.78006	0.38424	D	AEFDBHCI	0.820912	0.74159	D	0.93581331116815	0.93401	12.01492	0.830612077662137	0.91833	11.09286	0.999999999999999	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	5.27	5.27	0.73797	4.841000	0.62523	7.461000	0.59055	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	14.375	0.66432	409	0.82198	.;.	.	.	.	.	.	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	0.000522	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	1036.83	34	chr1	40315652	.	C	T	1036.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.43;DP=689;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.299;SOR=0.727	GT:AD:DP:GQ:PL	0/1:20,19:39:99:472,0,437	17	0	2	0
chr1	42842639	42842639	G	A	exonic	ERMAP	.	nonsynonymous SNV	ERMAP:NM_018538:exon11:c.G835A:p.V279I,ERMAP:NM_001017922:exon12:c.G835A:p.V279I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0002	0.00279553	0.0009	9.61e-05	0.0003	0.0092	0.0002	0.0001	0.0022	0.0008	0.0008279	128	154602	rs144048339	0.0003	0.0003	0.0003	0.0003	0.0046	0.0003	0.0002	0.0041	0.0039	2.987e-05	8.944e-05	0.0001	0.0046	1.872e-05	0.0003	9.263e-05	0.0006	0.0009	0.0004	0.0004	0.0003	0.0005	0.0099	0.0003	0.0003	0.0077	0.0069	2.407e-05	0	0	0	0.0099	0	0	8.82e-05	0	0.0010	0.393	0.10730	T	0.713	0.05470	T	1.0	0.90584	D	0.997	0.86255	D	0.064503	0.21948	N	0.424952	1	0.08975	N	1.065	0.27018	L	2.85	0.10578	T	-0.27	0.11366	N	0.061	0.03283	-1.0638	0.10831	T	0.029	0.12453	T	10	0.004298836	0.00086	T	.	.	.	0.071	0.20720	.	.	0.15556083564	0.15200	0.2061214561723195	0.20529	0.500056325963	0.48431	0.325548022985	0.14261	T	0.003963	0.03373	T	-0.572238	0.00215	T	-0.585361	0.14069	T	0.0340724794719423	0.02650	T	0.209679	0.02524	T	0.05985538	0.12215	0.07723031	0.17182	0.0686512	0.14973	0.0648982	0.13074	-4.782	0.34380	T	.	.	0.161	0.35602	B	.;.	.;.	2.265683	0.28955	17.97	0.99454521386768391	0.65479	0.12376	0.17231	N	AEFBI	0.116042	0.22790	N	-0.168133187266367	0.34466	1.967594	-0.296762369213067	0.28205	1.570725	0.953034753146316	0.28050	0.615465	0.37627	0	0.53679	0.11191	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	4.91	4.0	0.45673	0.007000	0.13074	9.987000	0.82961	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.512000	0.29290	0.1904:0.0:0.8096:0.0	7.449	0.26398	670	0.60992	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3381.83	33	chr1	42842639	.	G	A	3381.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.678;DP=829;ExcessHet=0.119;FS=3.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.528;SOR=0.913	GT:AD:DP:GQ:PL	0/1:45,67:112:99:1870,0,1084	17	0	2	0
chr1	43283030	43283030	C	T	exonic	C1orf210	.	nonsynonymous SNV	C1orf210:NM_001164829:exon3:c.G97A:p.V33M,C1orf210:NM_182517:exon3:c.G97A:p.V33M	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0329547528108	0.0004	0.00119808	0.0005	9.733e-05	0	0.0028	0	0.0005	0	0.0006	0.0004722	73	154602	rs184222741	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0017	0.0016	2.987e-05	2.236e-05	0.0051	0.0021	0	0.0002	2.248e-05	0.0008	0.0004	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0	0.0058	0.0037	0	0	4.411e-05	0	0.0008	0.037	0.43085	D	0.103	0.38305	T	0.994	0.66517	D	0.864	0.61462	P	0.020420	0.27045	N	0.337920	0.650858	0.30534	N	2.71	0.79292	M	0.8	0.48769	T	-1.46	0.35792	N	0.243	0.45803	-0.6355	0.63337	T	0.171	0.51229	T	10	0.009920925	0.00222	T	0.032955	0.54641	D	0.073	0.21317	.	.	0.501685917333	0.49804	0.5321725104097316	0.53142	0.55488461018	0.52210	.	.	.	0.043201	0.26427	T	-0.435287	0.01379	T	-0.39722	0.33709	T	0.0519698236404119	0.05843	T	0.763624	0.39028	T	0.08256864	0.19028	0.10789564	0.25981	0.08256864	0.19028	0.10789564	0.25981	-5.961	0.45952	T	.	.	0.175	0.38372	B	.;.	.;.	4.184655	0.63024	24.5	0.9985151774795028	0.93102	0.88277	0.48132	D	AEFBI	0.247822	0.36833	N	0.443584810960088	0.63839	4.625662	0.389244027210623	0.60902	4.283106	0.997918239133457	0.36186	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	1.984000	0.40279	1.780000	0.28708	0.587000	0.30956	0.980000	0.35271	0.929000	0.28499	0.856000	0.40543	0.2913:0.7087:0.0:0.0	10.936	0.46459	514	0.74853	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2020.83	33	chr1	43283030	.	C	T	2020.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.19;DP=768;ExcessHet=0.119;FS=0.568;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.62;SOR=0.743	GT:AD:DP:GQ:PL	0/1:44,34:78:99:915,0,1215	17	0	2	0
chr1	43346584	43346584	A	G	exonic	MPL	.	nonsynonymous SNV	MPL:NM_005373:exon7:c.A1120G:p.T374A	Myelofibrosis with myeloid metaplasia, somatic;Thrombocythemia 2, Autosomal dominant, Somatic mutation;Thrombocytopenia, congenital amegakaryocytic, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	138577	Thrombocythemia_2|Congenital_amegakaryocytic_thrombocytopenia|Primary_myelofibrosis|Essential_thrombocythemia|not_specified|Thrombocythemia_1|not_provided|Congenital_amegakaryocytic_thrombocytopenia_1	MONDO:MONDO:0011173,MedGen:C3275998,OMIM:601977|MONDO:MONDO:0800451,MedGen:C1327915,OMIM:PS604498,Orphanet:3319|MONDO:MONDO:0009692,MeSH:D055728,MedGen:C0001815,OMIM:254450,Orphanet:824|MONDO:MONDO:0005029,MeSH:D013920,MedGen:C0040028,Orphanet:3318|MedGen:CN169374|MONDO:MONDO:0008554,MedGen:C3277671,OMIM:187950|MedGen:C3661900|MONDO:MONDO:0800452,MedGen:C5882667,OMIM:604498,Orphanet:3319	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.169	.	.	0.00559105	0.0031	0	0.0003	0.0266	0	5.995e-05	0.0033	0.0079	0.0027878	431	154602	rs190983971	0.0012	0.0012	0.0009	0.0015	0.0189	0.0012	0.0011	0.0177	0.0173	5.974e-05	0.0002	0	0.0189	0	0.0005	6.025e-05	0.0042	0.0078	0.0013	0.0013	0.0012	0.0014	0.0245	0.0011	0.0011	0.0211	0.0198	9.626e-05	0	0.0008	0	0.0245	0	0	1.471e-05	0.0038	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.211197	0.16362	N	0.660669	0.999992	0.08975	N	-0.97	0.01230	N	-1.54	0.81640	D	0.04	0.06488	N	0.061	0.03283	-0.9684	0.37530	T	0.071	0.28969	T	10	0.0020261705	0.00029	T	.	.	.	0.169	0.43123	.	.	0.496036935653	0.49239	0.12280271784034485	0.12206	0.184258357792	0.20723	0.294538021088	0.09589	T	0.213503	0.57485	T	-0.587963	0.00172	T	-0.597073	0.13057	T	0.00141769740675991	0.00014	T	0.173583	0.01657	T	0.035918612	0.04319	0.036811136	0.03203	0.029512392	0.02458	0.039224092	0.03965	-2.73	0.07558	T	0.17373984107126314	0.22027	0.058	0.01233	B	.;.	.;.	1.115241	0.15006	11.51	0.5240398232137331	0.04742	0.01531	0.05040	N	AEFDBI	0.027453	0.02244	N	-1.05963361468103	0.07399	0.343642	-0.817905415695293	0.14062	0.7328151	0.996032498152874	0.34482	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.613276	0.41899	0	.	.	5.31	3.19	0.35720	0.302000	0.18947	2.168000	0.31032	-0.873000	0.02525	0.008000	0.17931	0.131000	0.23000	0.895000	0.43227	0.3488:0.0:0.6512:0.0	7.516	0.26770	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	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	0.003049	0.000000	0.05263	3074.83	37	chr1	43346584	.	A	G	3074.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=890;ExcessHet=0.119;FS=1.486;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.24;SOR=0.799	GT:AD:DP:GQ:PL	0/1:75,65:140:99:1687,0,1908	17	0	2	0
chr1	52402167	52402167	C	G	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon2:c.G57C:p.R19S,ORC1:NM_001190819:exon2:c.G57C:p.R19S,ORC1:NM_004153:exon2:c.G57C:p.R19S	Meier-Gorlin syndrome 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	249981	not_provided|not_specified|ORC1-related_disorder|Meier-Gorlin_syndrome_1	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00517856032185	0.0056	0.00179712	0.0041	0.0013	0.0004	0	0.0032	0.0068	0.0055	0.0003	0.0044178	683	154602	rs3087473	0.0070	0.0070	0.0073	0.0067	0.0086	0.0069	0.0068	0.0085	0.0084	0.0014	0.0020	0.0004	0	0.0031	0	0.0086	0.0053	0.0003	0.0045	0.0045	0.0050	0.0039	0.0078	0.0042	0.0041	0.0073	0.0071	0.0014	0.0197	0.0026	0.0003	0	0.0018	0	0.0078	0.0052	0	0.01	0.56456	D	0.058	0.46182	T	0.016	0.17332	B	0.004	0.10090	B	0.026818	0.25858	N	0.463537	0.999984	0.18198	N	1.43	0.35840	L	1.03	0.40469	T	-1.05	0.27463	N	0.1	0.08227	-1.0619	0.11288	T	0.057	0.23980	T	10	0.005469382	0.00121	T	0.005179	0.13187	T	0.046	0.12618	0.337	0.32654	0.525049811399	0.52150	0.40925480443161805	0.40841	0.17403807574	0.19594	0.28115093708	0.07653	T	0.012799	0.11182	T	-0.471546	0.00831	T	-0.443581	0.28407	T	0.00554624121956402	0.00060	T	0.589041	0.21605	T	0.095302746	0.22426	0.07030395	0.14919	0.120449856	0.28342	0.0867425	0.20115	-4.748	0.33979	T	0.31276433788098723	0.41070	0.189	0.40730	B	.;.	.;.	1.366380	0.17758	13.35	0.98638134780046571	0.44015	0.09500	0.15242	N	AEFBCI	0.140717	0.26269	N	-0.426546745186433	0.24543	1.325905	-0.341100050440938	0.26785	1.48178	0.999998827220318	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	2.45	0.28953	-0.214000	0.09296	0.886000	0.22434	-0.188000	0.09543	0.032000	0.20554	0.941000	0.28781	0.956000	0.50813	0.1707:0.6486:0.0:0.1807	4.760	0.12478	329	0.86514	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	2747.83	41	chr1	52402167	.	C	G	2747.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=849;ExcessHet=0.119;FS=1.581;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.71;SOR=0.813	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1496,0,1479	17	0	2	0
chr1	55124477	55124477	C	T	exonic	USP24	.	nonsynonymous SNV	USP24:NM_015306:exon35:c.G4112A:p.S1371N	.	419	1099	3	1	0	5	0.00226963	.	.	.	3487480	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0427589979729	8.4e-05	.	0.0002	0	0	0	0	0.0002	0.0015	0.0004	8.41e-05	13	154602	rs374827779	6.1e-05	6.225e-05	4.362e-05	7.858e-05	0.0005	5.037e-05	4.681e-05	0.0002	0.0002	0	4.508e-05	0	0	0	0.0005	4.502e-05	0.0001	0.0003	7.88e-05	7.875e-05	1.285e-05	0.0001	0.0004	4.494e-05	3.51e-05	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0.0034	4.41e-05	0.0009	0.0004	0.024	0.47745	D	0.01	0.65728	D	.	.	.	.	.	.	0.000004	0.62929	D	0.167577	0.999998	0.58761	D	0.805	0.20218	L	4.16	0.02791	T	-1.04	0.27259	N	0.751	0.75009	-0.9669	0.37834	T	0.021	0.09009	T	10	0.4503152	0.58657	T	0.042759	0.60630	D	0.163	0.42028	.	.	0.280695755116	0.27685	0.5177891468990123	0.51701	0.639306172899	0.57605	0.636573493481	0.58077	T	0.032536	0.22527	T	-0.39247	0.02593	T	-0.495556	0.22809	T	0.177533640858399	0.19078	T	0.893711	0.63166	D	0.30578023	0.53418	0.23252103	0.48415	0.30578023	0.53418	0.23252103	0.48414	-4.322	0.28484	T	.	.	0.654	0.71083	P	.	.	4.213753	0.63682	24.6	0.99226187278981526	0.56057	0.99777	0.99392	D	AEFDBI	0.854849	0.77191	D	0.575015649697597	0.71617	5.678294	0.610474434346003	0.75699	6.35704	0.999999999660162	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.537000	0.80946	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.813	0.92032	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	809.33	34	chr1	55124477	.	C	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.559;DP=673;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.59;SOR=0.892	GT:AD:DP:GQ:PL	0/1:24,34:58:99:823,0,552	18	0	1	0
chr1	56943786	56943786	C	A	exonic	C8B	.	nonsynonymous SNV	C8B:NM_000066:exon8:c.G1144T:p.D382Y,C8B:NM_001278543:exon9:c.G988T:p.D330Y,C8B:NM_001278544:exon9:c.G958T:p.D320Y	C8 deficiency, type II, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	696809	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign|association	.	.	.	.	.	.	.	.	0.397	0.0767145454667	0.0059	0.00279553	0.0042	0.0017	0.0027	0	0.0044	0.0062	0.0022	0.0008	0.0043337	670	154602	rs139498867	0.0061	0.0061	0.0063	0.0059	0.0071	0.0060	0.0060	0.0070	0.0070	0.0012	0.0033	0.0085	0	0.0033	0.0028	0.0071	0.0058	0.0006	0.0043	0.0043	0.0049	0.0037	0.0068	0.0041	0.0039	0.0063	0.0061	0.0013	0.0011	0.0039	0.0121	0	0.0023	0	0.0068	0.0033	0.0006	0.005	0.63226	D	0.007	0.69154	D	0.974	0.57829	D	0.66	0.52803	P	0.029202	0.25487	N	0.458353	0.869162	0.28234	N	.	.	.	-1.81	0.83970	D	-1.54	0.37759	N	0.285	0.37509	-0.0678	0.80828	T	0.537	0.82892	D	10	0.008324385	0.00189	T	0.076715	0.72597	D	0.397	0.71163	.	.	0.879829729705	0.87865	0.7958464797366251	0.79537	0.218399245309	0.24377	0.281983196735	0.07770	T	0.060926	0.31519	T	-0.337704	0.05549	T	-0.250758	0.49742	T	0.0415903852167784	0.03980	T	0.820918	0.48005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.35992	B	.;.;.	.;.;.	2.904105	0.38503	20.7	0.99371876885480581	0.61498	0.51133	0.28825	D	AEFI	0.436931	0.49694	N	0.0171729707789439	0.42635	2.572692	-0.10819151513677	0.35059	2.023858	0.904939928671033	0.26191	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	3.66	0.41111	2.055000	0.40971	0.003000	0.13321	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.988000	0.63387	0.0:0.9173:0.0:0.0827	12.856	0.57271	869	0.31655	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;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	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.003788	0.02632	2685.33	34	chr1	56943786	.	C	A	2685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=865;ExcessHet=0;FS=1.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.67;SOR=0.584	GT:AD:DP:GQ:PL	0/1:111,106:217:99:2699,0,2764	18	0	1	0
chr1	62803787	62803787	A	G	exonic	ATG4C	.	startloss	ATG4C:NM_032852:exon2:c.A1G:p.M1?,ATG4C:NM_178221:exon2:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0354454869305	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909957525	1.383e-06	2.736e-06	1.376e-06	1.389e-06	3.065e-05	2.3e-07	9e-08	.	.	3.065e-05	0	0	0	0	0	9.062e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.59928	D	0.0	0.92824	D	0.144	0.27697	B	0.051	0.25434	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-0.82	0.22508	N	0.809	0.80473	-0.8553	0.51599	T	0.125	0.42966	T	8	0.9628942	0.95722	D	0.035445	0.56350	D	0.387	0.70358	0.999	0.99990	0.385249989106	0.38142	0.4853835204178859	0.48458	.	.	.	.	.	0.011177	0.39445	T	0.439916	0.92018	D	0.394133	0.91920	D	0.989492297172546	0.79728	D	0.9	0.65058	D	0.40396515	0.61006	0.36873424	0.62158	0.40396515	0.61007	0.36873424	0.62157	-5.989	0.46188	T	.	.	.	.	.	.;.;.;.	.;.;.;.	3.417855	0.47442	22.5	0.98188138593683361	0.39010	0.99319	0.94436	D	AEFBI	0.135903	0.25639	N	0.137692467605171	0.48229	3.037901	0.281189561039733	0.54440	3.609145	0.999999847206299	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	7.614000	0.82196	11.143000	0.87128	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.663	0.68498	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3957.77	34	chr1	62803787	.	A	G	3957.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.063;DP=783;ExcessHet=0;FS=1.433;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=2.83;SOR=0.547	GT:AD:DP:GQ:PL	0/1:41,39:80:99:1005,0,1106	17	1	1	0
chr1	63415884	63415884	C	T	exonic	ALG6	.	nonsynonymous SNV	ALG6:NM_013339:exon11:c.C914T:p.T305M	Congenital disorder of glycosylation, type Ic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1372075	ALG6-congenital_disorder_of_glycosylation_1C	MONDO:MONDO:0011291,MedGen:C2930997,OMIM:603147,Orphanet:79320	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.912	0.358536784238	.	.	4.988e-05	0	0	0	0	9.067e-05	0	0	4.53e-05	7	154602	rs546145736	1.236e-05	1.984e-05	1.094e-05	1.38e-05	6.008e-05	7.73e-06	6.38e-06	9.95e-06	5.05e-06	6.008e-05	4.478e-05	0	0	0	0	1.174e-05	0	1.163e-05	1.973e-05	2.627e-05	2.571e-05	1.347e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.003	0.68238	D	0.013	0.63109	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.92	0.96251	H	-2.14	0.86415	D	-4.05	0.74504	D	0.891	0.89020	0.807	0.94499	D	0.795	0.93061	D	10	0.98908985	0.99357	D	0.358537	0.92452	D	0.912	0.97662	.	.	0.93906706399	0.93843	0.8596756376050926	0.85931	1.00602193083	0.74586	0.491110831499	0.37593	T	0.887023	0.97675	D	0.249378	0.78544	D	0.300734	0.88230	D	0.987714767456055	0.78158	D	0.90351	0.66162	D	0.8313303	0.85995	0.6900936	0.81766	0.8313303	0.85997	0.6900936	0.81767	-9.311	0.69676	D	0.9579707975544716	0.98570	0.403	0.59749	A	.;.	.;.	5.198756	0.87212	29.2	0.99844150052077396	0.92403	0.93453	0.58257	D	AEFGBI	0.640694	0.61830	D	0.552024904047122	0.70205	5.468	0.446785665854102	0.64509	4.707904	0.143024317586851	0.17308	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.06	4.15	0.47978	5.237000	0.65185	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.9234:0.0:0.0766	13.441	0.60567	874	0.30607	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1391.33	44	chr1	63415884	.	C	T	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=831;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.785;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,38:100:99:0|1:63415881_C_T:1405,0,2480:63415881	18	0	1	0
chr1	67004401	67004401	T	G	exonic	SLC35D1	.	nonsynonymous SNV	SLC35D1:NM_015139:exon12:c.A1007C:p.Q336P	Schneckenbecken dysplasia, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2099422	Schneckenbecken_dysplasia	MONDO:MONDO:0010013,MedGen:C0432194,OMIM:269250,Orphanet:3144	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.205	0.0179893535764	.	0.000399361	0.0004	0	0	0	0	1.499e-05	0.0011	0.0028	0.0003299	51	154602	rs200622288	0.0001	0.0001	7.759e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0005	6.295e-06	0.0002	0.0023	0.0002	0.0002	3.854e-05	0.0003	0.0044	0.0001	8.711e-05	0.0029	0.0025	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0044	0.217	0.19157	T	0.066	0.44501	T	0.012	0.16265	B	0.009	0.14300	B	0.000004	0.62929	D	0.108661	0.999992	0.58761	D	2.175	0.60977	M	-0.21	0.66294	T	-0.53	0.16393	N	0.623	0.63798	-0.8447	0.52331	T	0.155	0.48585	T	10	0.016024202	0.00337	T	0.017989	0.39899	T	0.205	0.49236	.	.	0.846905503266	0.84544	0.898626058383182	0.89834	0.621530849985	0.56441	0.52704000473	0.42617	T	0.090292	0.38553	T	-0.242761	0.14998	T	-0.126413	0.61272	T	0.0756033730538428	0.09415	T	0.827517	0.49142	T	0.29758587	0.52687	0.38468745	0.63403	0.35123262	0.57163	0.42212823	0.66124	-9.266	0.69394	D	.	.	0.101	0.17615	B	.	.	3.683813	0.52454	23.2	0.98492647656874588	0.42120	0.98190	0.80386	D	AEFDBIJ	0.855900	0.77307	D	0.0947922421283454	0.46220	2.865744	0.274279214569735	0.54040	3.570487	0.999996158966684	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.59	5.59	0.84677	6.888000	0.75438	7.913000	0.74126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.752	0.69150	691	0.58815	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1530.33	37	chr1	67004401	.	T	G	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.922;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.518;SOR=0.677	GT:AD:DP:GQ:PL	0/1:90,71:161:99:1544,0,2341	18	0	1	0
chr1	74480875	74480875	A	G	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon2:c.T86C:p.L29P,LRRC53:NM_001382280:exon3:c.T182C:p.L61P	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.055334561429	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900793612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.013	0.63109	D	.	.	.	.	.	.	0.022231	0.26675	N	0.173017	1	0.81001	D	.	.	.	0.62	0.53302	T	-2.41	0.52938	N	0.697	0.70175	-0.9704	0.37115	T	0.098	0.36780	T	7	0.7303786	0.74257	D	0.055335	0.66196	D	0.256	0.56694	0.688	0.82558	0.591908371553	0.58867	0.784853682621117	0.78436	.	.	.	.	.	0.019136	0.15304	T	0.0460248	0.57831	T	-0.171665	0.57291	T	0.953827857971191	0.64118	D	0.443756	0.12347	T	0.2407524	0.46983	0.33702976	0.59497	0.2407524	0.46982	0.33702976	0.59497	-11.193	0.80706	D	.	.	0.839	0.79163	P	.	.	4.512821	0.70686	25.6	0.99858587720573222	0.93729	0.81834	0.41160	D	AEFGI	0.474690	0.51884	N	0.169556874524073	0.49741	3.171114	0.222771325832424	0.51114	3.296736	0.00123158839198154	0.08362	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.46	4.33	0.51083	3.479000	0.52928	6.050000	0.53084	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7741:0.0:0.0797:0.1462	5.902	0.18212	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2346.83	35	chr1	74480875	.	A	G	2346.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.455;DP=782;ExcessHet=0.119;FS=2.583;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.383;SOR=0.527	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1032,0,1063	17	0	2	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,18:62:99:.:.:199,0,1156:.	4	0	11	4
chr1	92480855	92480855	C	G	exonic	GFI1	.	nonsynonymous SNV	GFI1:NM_001127215:exon4:c.G532C:p.G178R,GFI1:NM_001127216:exon4:c.G532C:p.G178R,GFI1:NM_005263:exon4:c.G532C:p.G178R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0947040292213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.295e-06	2.052e-06	1.503e-06	3.117e-06	1.522e-05	6.1e-07	1.7e-07	.	.	0	0	0	0	0	0	9.589e-07	1.871e-05	1.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.54	0.09760	T	0.005	0.12996	B	0.004	0.10090	B	0.067762	0.21718	N	0.341501	1	0.08975	N	1.39	0.34934	L	3.02	0.08986	T	-0.41	0.14000	N	0.169	0.18376	-0.9501	0.40955	T	0.007	0.02518	T	10	0.18142581	0.33373	T	0.094704	0.76300	D	0.025	0.05312	0.319	0.29741	0.558147714631	0.55475	0.25169312803071203	0.25083	0.763659519793	0.64390	0.909863829613	0.97458	D	0.343997	0.71257	T	-0.218637	0.18180	T	-0.551834	0.17151	T	0.167297890085063	0.18395	T	0.634137	0.24845	T	0.063135155	0.13262	0.20006599	0.43920	0.063135155	0.13262	0.20006599	0.43919	-7.345	0.56515	T	0.10293074748451662	0.07879	0.310	0.53793	B	.;.;.	.;.;.	2.728447	0.35709	19.97	0.99783890850011381	0.87043	0.52440	0.29132	D	AEFDBCI	0.101916	0.20458	N	-0.54638294260379	0.20597	1.086983	-0.486752825937037	0.22518	1.223443	0.999989011325327	0.51787	0.455138	0.09556	0	0.546412	0.12157	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.86	2.93	0.33092	1.225000	0.32154	4.308000	0.42960	0.518000	0.23583	0.951000	0.33123	0.978000	0.30204	0.080000	0.17246	0.0:0.8154:0.1846:0.0	11.415	0.49191	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	169.35	27	chr1	92480855	.	C	G	169.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.368;DP=473;ExcessHet=0;FS=5.035;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=0.312;SOR=2.215	GT:AD:DP:GQ:PL	0/1:10,8:18:99:183,0,284	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,25:125:99:0|1:99884396_T_C:259,0,3700:99884396	4	0	15	0
chr1	107057028	107057028	G	A	exonic	PRMT6	.	nonsynonymous SNV	PRMT6:NM_018137:exon1:c.G313A:p.A105T	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.0539093399098	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1253649475	2.738e-06	2.736e-06	2.724e-06	2.752e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.657e-05	0	1.313e-05	1.313e-05	2.568e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.145	0.88303	M	1.37	0.34253	T	-3.91	0.73042	D	0.765	0.76296	-0.4917	0.68948	T	0.245	0.61424	T	10	0.90091413	0.89452	D	0.053909	0.65651	D	0.461	0.75822	0.76	0.88892	0.467669411796	0.46395	0.8841361621498546	0.88381	1.69212223381	0.90150	0.628192186356	0.56888	T	0.454464	0.79400	T	0.198748	0.73775	D	0.0477117	0.73432	D	0.982942223548889	0.74799	D	0.937106	0.76374	D	0.8963119	0.91055	0.8748774	0.93204	0.8963119	0.91056	0.8748774	0.93205	-10.537	0.77060	D	.	.	0.764	0.75648	P	.	.	5.518343	0.91754	32	0.99832027800679202	0.91370	0.80211	0.39909	D	ALL	0.747104	0.68927	D	0.787441017970027	0.85314	8.539081	0.700314022476283	0.82400	7.758152	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.64	5.64	0.86480	7.311000	0.78264	11.632000	0.93711	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.196	0.86775	947	0.11584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3097.33	66	chr1	107057028	.	G	A	3097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=1150;ExcessHet=0;FS=4.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.628;SOR=0.83	GT:AD:DP:GQ:PL	0/1:115,106:221:99:3111,0,3190	18	0	1	0
chr1	109281881	109281881	G	A	exonic	PSRC1	.	nonsynonymous SNV	PSRC1:NM_001350237:exon3:c.C257T:p.A86V,PSRC1:NM_001005290:exon4:c.C257T:p.A86V,PSRC1:NM_001032291:exon4:c.C257T:p.A86V,PSRC1:NM_001350238:exon4:c.C257T:p.A86V,PSRC1:NM_001350239:exon4:c.C257T:p.A86V,PSRC1:NM_001350240:exon4:c.C257T:p.A86V,PSRC1:NM_001350241:exon4:c.C257T:p.A86V,PSRC1:NM_001350242:exon4:c.C257T:p.A86V,PSRC1:NM_001363309:exon4:c.C257T:p.A86V,PSRC1:NM_032636:exon4:c.C257T:p.A86V	.	434	1063	23	2	0	27	0.0125406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0018	0.00159744	0.0033	0.0007	0.0009	0	0.0023	0.0029	0.0023	0.0104	0.0030271	468	154602	rs116496512	0.0032	0.0032	0.0029	0.0034	0.0132	0.0031	0.0031	0.0108	0.0099	0.0007	0.0014	0.0035	0	0.0022	0.0132	0.0030	0.0029	0.0096	0.0022	0.0022	0.0021	0.0023	0.0064	0.0020	0.0019	0.0046	0.0040	0.0004	0.0011	0.0014	0.0043	0	0.0024	0.0171	0.0031	0.0028	0.0064	0.006	0.63226	D	0.0	0.92824	D	0.01	0.15535	B	0.027	0.21085	B	0.027528	0.25742	N	0.397080	1	0.08975	N	2.075	0.57047	M	0.18	0.60361	T	-2.26	0.50502	N	0.229	0.28498	-1.0019	0.29372	T	0.080	0.31586	T	10	0.0059845746	0.00134	T	.	.	.	0.133	0.36157	.	.	0.650309897564	0.64740	0.2293252498829944	0.22847	0.20603035663	0.23027	0.357421278954	0.19009	T	0.066274	0.39161	T	-0.361159	0.04065	T	-0.283595	0.46435	T	0.0356868979356617	0.02925	T	0.675332	0.28377	T	0.15835074	0.35630	0.1507517	0.35539	0.15835074	0.35630	0.1507517	0.35539	-7.069	0.54537	T	.	.	0.139	0.30370	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.896661	0.38380	20.7	0.99884311473574006	0.95970	0.20971	0.21235	N	AEFDBHI	0.297057	0.40674	N	-0.540945000539414	0.20769	1.097295	-0.513461371108263	0.21788	1.180281	0.999999834253446	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.605231	0.38476	0	.	.	6.03	5.12	0.69459	2.337000	0.43605	6.645000	0.56196	0.676000	0.76740	0.060000	0.21767	0.998000	0.33993	0.447000	0.27828	0.0826:0.0:0.9174:0.0	11.417	0.49198	650	0.62973	.;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed protein 1, N-terminal;G2 and S phase-expressed 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	0.004532	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.003788	0.05263	2656.83	34	chr1	109281881	.	G	A	2656.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.869;DP=801;ExcessHet=0.119;FS=4.246;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.498;SOR=0.728	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1329,0,1422	17	0	2	0
chr1	111235694	111235694	T	C	exonic	CHI3L2	.	nonsynonymous SNV	CHI3L2:NM_001025197:exon5:c.T506C:p.L169P,CHI3L2:NM_001025199:exon5:c.T299C:p.L100P,CHI3L2:NM_004000:exon6:c.T536C:p.L179P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0296700566293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.001851	0.37840	N	0.000000	1	0.81001	D	3.475	0.92503	M	3.12	0.41392	T	-6.03	0.90450	D	0.766	0.79986	-0.3322	0.74070	T	0.277	0.64916	T	10	0.91248	0.90612	D	0.02967	0.52133	D	0.366	0.68582	0.799	0.91874	0.741182922206	0.73885	0.7079538988731796	0.70737	0.124778172504	0.14054	0.465949714184	0.34125	T	0.099165	0.49844	T	0.15042	0.69307	D	-0.0217088	0.68916	D	0.991962015628815	0.82340	D	0.910309	0.76886	D	0.987576	0.99629	0.9605743	0.99002	0.987576	0.99629	0.9605743	0.99003	-12.711	0.88384	D	.	.	0.775	0.80106	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.537674	0.71295	25.7	0.99900083530911743	0.97199	0.89330	0.49730	D	AEFBCI	0.741811	0.68563	D	0.697840119597027	0.79491	7.088769	0.538075547578037	0.70571	5.524987	0.999999997834279	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.39	3.39	0.37919	6.127000	0.71377	4.651000	0.44196	0.665000	0.62972	0.986000	0.36153	0.888000	0.27792	0.931000	0.46843	0.0:0.0:0.0:1.0	10.102	0.41682	818	0.41518	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;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;.;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	.	.	.	.	.	.	.	.	0.02632	1888.33	53	chr1	111235694	.	T	C	1888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.675;DP=1797;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.04;SOR=0.59	GT:AD:DP:GQ:PL	0/1:62,76:138:99:1902,0,2298	18	0	1	0
chr1	111456112	111456112	A	G	exonic	ATP5PB	.	nonsynonymous SNV	ATP5PB:NM_001688:exon4:c.A250G:p.I84V	.	529	989	3	1	0	5	0.00252143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.004025134335	0.0029	0.00179712	0.0027	0.0008	0.0035	0	0.0002	0.0038	0	0.0015	0.0028072	434	154602	rs151112830	0.0037	0.0038	0.0038	0.0037	0.0044	0.0037	0.0036	0.0043	0.0042	0.0005	0.0032	0.0032	0	0.0002	0.0028	0.0044	0.0038	0.0012	0.0028	0.0028	0.0030	0.0025	0.0046	0.0026	0.0025	0.0042	0.0040	0.0007	0.0110	0.0027	0.0040	0.0002	9.411e-05	0	0.0046	0.0061	0.0008	0.408	0.10212	T	0.695	0.06925	T	0.004	0.12183	B	0.01	0.14941	B	0.000985	0.40743	D	0.280632	0.991048	0.25402	N	1.52	0.38360	L	1.42	0.33189	T	-0.2	0.10833	N	0.091	0.06990	-1.0245	0.22246	T	0.019	0.07800	T	10	0.007826477	0.00178	T	0.004025	0.09556	T	0.052	0.14661	.	.	0.141422826196	0.13715	0.3717193712156681	0.37085	0.161949146904	0.18268	0.402890354395	0.25471	T	0.029115	0.20935	T	-0.602405	0.00141	T	-0.63155	0.10298	T	0.00871101302680961	0.00107	T	0.849815	0.53298	T	0.04157999	0.06149	0.061053526	0.11727	0.04157999	0.06148	0.061053526	0.11727	-2.773	0.07937	T	.	.	0.09	0.24363	B	.;.	.;.	1.849476	0.23498	16.04	0.96540827363490433	0.30186	0.86473	0.45760	D	AEFGBI	0.486628	0.52572	N	-0.280028808328628	0.29920	1.663578	-0.115610644500671	0.34761	2.003172	0.999995281633204	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	3.91	0.44383	1.758000	0.38039	4.067000	0.41634	0.756000	0.94297	0.969000	0.34210	1.000000	0.68203	0.597000	0.31313	0.4859:0.3811:0.133:0.0	5.006	0.13630	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005102	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2512.33	34	chr1	111456112	.	A	G	2512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.319;DP=889;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.11;SOR=0.88	GT:AD:DP:GQ:PL	0/1:102,103:205:99:2526,0,2553	18	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,14:83:26:.:.:26,0,1540:.	5	0	14	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:86,53:139:99:391,0,1409	3	0	16	0
chr1	116124181	116124181	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon4:c.G305A:p.C102Y	.	433	1087	2	0	0	2	0.000919118	.	.	.	3449431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00878675410091	.	.	.	.	.	.	.	.	.	.	.	.	.	rs149580249	1.915e-05	1.915e-05	1.497e-05	2.338e-05	0.0005	1.328e-05	1.144e-05	0.0001	7.546e-05	2.987e-05	6.708e-05	0	0	0	0.0005	1.619e-05	4.967e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	6.539e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.879e-05	0	0	0.031	0.45039	D	0.039	0.51112	D	0.003	0.11197	B	0.004	0.10090	B	0.414103	0.12957	N	0.729871	0.679845	0.30289	N	1.645	0.42016	L	2.24	0.17923	T	-1.61	0.38734	N	0.218	0.24385	-0.9306	0.44051	T	0.010	0.03719	T	10	0.11671254	0.22023	T	0.008787	0.23196	T	0.054	0.15330	0.384	0.40298	0.188950314367	0.18478	0.7629482908948151	0.76242	0.102732869244	0.11620	0.30912142992	0.11774	T	0.066132	0.32868	T	-0.415808	0.01820	T	-0.638085	0.09810	T	0.0821479484438896	0.10261	T	0.593441	0.21910	T	0.11117166	0.26273	0.11846318	0.28595	0.11117166	0.26272	0.11846318	0.28595	-4.24	0.27327	T	.	.	0.101	0.17615	B	.	.	1.874441	0.23810	16.16	0.66554705459074759	0.08093	0.74082	0.36236	D	AEFDBI	0.256456	0.37538	N	-0.807292231229606	0.13124	0.6443282	-0.743392093774513	0.15884	0.8376579	0.99174165817547	0.32594	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.43	2.54	0.29674	3.107000	0.50021	4.626000	0.44096	-0.154000	0.11915	1.000000	0.71638	0.990000	0.31317	0.329000	0.25179	0.104:0.4029:0.3786:0.1145	3.771	0.08164	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1633.33	36	chr1	116124181	.	G	A	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.677;DP=798;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-2.153;SOR=0.759	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1647,0,1916	18	0	1	0
chr1	117075111	117075111	-	GG	exonic	TTF2	.	frameshift insertion	TTF2:NM_003594:exon5:c.527_528insGG:p.D177Efs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	100.29	92	chr1	117075111	.	A	AGG	100.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.053;DP=1303;ExcessHet=0;FS=48.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.188;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,15:86:99:0|1:117075111_A_AGG:114,0,2873:117075111	18	0	1	0
chr1	117075115	117075116	CC	-	exonic	TTF2	.	frameshift deletion	TTF2:NM_003594:exon5:c.531_532del:p.S179Ifs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	229.81	92	chr1	117075114	.	ACC	A	229.81	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.246;DP=1339;ExcessHet=0.119;FS=95.402;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=2.02;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,15:89:99:0|1:117075111_A_AGG:105,0,2964:117075111	18	0	1	0
chr1	117075115	117075115	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	138.8	92	chr1	117075115	.	C	*	138.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.496;DP=1359;ExcessHet=0.119;FS=136.017;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.11;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,15:89:99:0|1:117075111_A_AGG:105,0,2964:117075111	17	0	1	1
chr1	117075116	117075116	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	144.43	92	chr1	117075116	.	C	*	144.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.475;DP=1304;ExcessHet=0.119;FS=95.545;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=2.07;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,15:89:99:0|1:117075111_A_AGG:105,0,2964:117075111	18	0	1	0
chr1	144424839	144424839	A	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385447:exon14:c.T1289C:p.V430A,NBPF15:NM_001385417:exon15:c.T1514C:p.V505A,NBPF15:NM_001385446:exon15:c.T1289C:p.V430A,NBPF15:NM_001385405:exon16:c.T1514C:p.V505A,NBPF15:NM_001385448:exon16:c.T1598C:p.V533A,NBPF15:NM_001385410:exon17:c.T1514C:p.V505A,NBPF15:NM_001385413:exon17:c.T1514C:p.V505A,NBPF15:NM_001385416:exon17:c.T1514C:p.V505A,NBPF15:NM_001385432:exon17:c.T1514C:p.V505A,NBPF15:NM_001385438:exon17:c.T1514C:p.V505A,NBPF15:NM_001385407:exon18:c.T1514C:p.V505A,NBPF15:NM_001385418:exon18:c.T1514C:p.V505A,NBPF15:NM_001385424:exon18:c.T1514C:p.V505A,NBPF15:NM_001385427:exon18:c.T1514C:p.V505A,NBPF15:NM_001385439:exon18:c.T1514C:p.V505A,NBPF15:NM_001385440:exon18:c.T1514C:p.V505A,NBPF15:NM_001385443:exon18:c.T1403C:p.V468A,NBPF15:NM_001385445:exon18:c.T1403C:p.V468A,NBPF15:NM_001385376:exon19:c.T1514C:p.V505A,NBPF15:NM_001385377:exon19:c.T1514C:p.V505A,NBPF15:NM_001385403:exon19:c.T1514C:p.V505A,NBPF15:NM_001385404:exon19:c.T1514C:p.V505A,NBPF15:NM_001385409:exon19:c.T1514C:p.V505A,NBPF15:NM_001385411:exon19:c.T1514C:p.V505A,NBPF15:NM_001385414:exon19:c.T1514C:p.V505A,NBPF15:NM_001385441:exon19:c.T1514C:p.V505A,NBPF15:NM_173638:exon19:c.T1514C:p.V505A,NBPF15:NM_001385373:exon20:c.T1514C:p.V505A,NBPF15:NM_001385374:exon20:c.T1514C:p.V505A,NBPF15:NM_001385375:exon20:c.T1514C:p.V505A,NBPF15:NM_001385408:exon20:c.T1514C:p.V505A,NBPF15:NM_001385412:exon20:c.T1514C:p.V505A,NBPF15:NM_001385415:exon20:c.T1514C:p.V505A,NBPF15:NM_001385420:exon20:c.T1514C:p.V505A,NBPF15:NM_001385423:exon20:c.T1514C:p.V505A,NBPF15:NM_001385430:exon20:c.T1514C:p.V505A,NBPF15:NM_001385431:exon20:c.T1514C:p.V505A,NBPF15:NM_001385433:exon20:c.T1514C:p.V505A,NBPF15:NM_001385434:exon20:c.T1514C:p.V505A,NBPF15:NM_001385436:exon20:c.T1514C:p.V505A,NBPF15:NM_001385442:exon20:c.T1403C:p.V468A,NBPF15:NM_001385444:exon20:c.T1403C:p.V468A,NBPF15:NM_001385378:exon21:c.T1514C:p.V505A,NBPF15:NM_001385406:exon21:c.T1514C:p.V505A,NBPF15:NM_001385419:exon21:c.T1514C:p.V505A,NBPF15:NM_001385421:exon21:c.T1514C:p.V505A,NBPF15:NM_001385422:exon21:c.T1514C:p.V505A,NBPF15:NM_001385425:exon21:c.T1514C:p.V505A,NBPF15:NM_001385428:exon21:c.T1514C:p.V505A,NBPF15:NM_001385429:exon21:c.T1514C:p.V505A,NBPF15:NM_001385435:exon21:c.T1514C:p.V505A,NBPF15:NM_001385437:exon21:c.T1514C:p.V505A,NBPF15:NM_001170755:exon22:c.T1514C:p.V505A,NBPF15:NM_001385426:exon22:c.T1514C:p.V505A	.	706	801	15	0	0	15	0.00927644	.	.	.	2196762	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201924497	4.437e-06	6.836e-05	4.729e-06	4.18e-06	7.345e-06	7.4e-07	2.8e-07	1.22e-06	4.6e-07	0	0	0	0	0	0	7.345e-06	0	0	6.643e-05	0.0003	7.874e-05	5.271e-05	0.0003	3.252e-05	2.359e-05	4.43e-05	2.64e-05	0.0001	0	0	0	0.0003	0	0	3.48e-05	0	0.0003	.	.	.	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.33	0.06138	T	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.07025522	0.10194	T	.	.	.	.	.	.	.	.	.	0.004037460739125021	0.00378	.	.	.	.	.	0.014177	0.12117	T	.	.	.	.	.	.	.	.	.	0.458654	0.13238	T	.	.	.	.	.	.	.	.	-5.254	0.39486	T	.	.	0.127	0.26855	B	.;.;.	.;.;.	-0.015487	0.04177	1.009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212000	0.17289	-12.428000	0.00526	-0.558000	0.04865	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	38.63	4	chr1	144424839	.	A	G	38.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=121;ExcessHet=0;FS=0;InbreedingCoeff=-0.0464;MLEAC=1;MLEAF=0.026;MQ=34.79;MQRankSum=0.66;QD=3.51;ReadPosRankSum=2.36;SOR=1.371	GT:AD:DP:GQ:PL	0/1:9,2:11:52:52,0,280	18	0	1	0
chr1	145292396	145292396	T	G	exonic	NBPF20	.	nonsynonymous SNV	NBPF20:NM_001278267:exon137:c.A15365C:p.N5122T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000832568993987	.	0.000199681	0.0006	0	0.0006	0.0037	0	0.0005	0.0038	0.0003	0.0001153	3	26028	rs587604193	0.0004	0.0005	0.0004	0.0004	0.0018	0.0003	0.0003	0.0014	0.0013	0.0004	0.0004	0	0.0018	2.943e-05	0	0.0003	0.0002	0.0006	0.0004	0.0005	0.0003	0.0004	0.0020	0.0003	0.0003	0.0011	0.0008	0.0005	0	0.0002	0	0.0020	0	0	0.0004	0.0005	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.30004	-1.1012	0.03949	T	0.031	0.13461	T	5	0.007727802	0.00175	T	7.74E-4	0.00568	T	.	.	.	.	0.0138822411134	0.00435	2.485671720627134E-5	0.00002	.	.	0.530503511429	0.43105	T	.	.	.	-0.206237	0.19911	T	-0.534022	0.18886	T	0.0487655988049819	0.05281	T	0.440256	0.45098	T	0.08721691	0.20301	0.17240854	0.39492	0.08721691	0.20301	0.17240854	0.39492	-9.262	0.69368	D	.	.	0.365	0.57554	A	.;.	.;.	0.796124	0.11666	8.250	0.92741266837111869	0.22245	0.00085	0.00571	N	AEFI	0.038342	0.05411	N	-0.643706638441732	0.17644	0.9096457	-0.951540724783552	0.10886	0.5512592	3.41888817781307E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.049000	0.11879	-3.583000	0.02678	-1.031000	0.01692	0.004000	0.16614	0.000000	0.08366	0.007000	0.07825	.	.	.	443	0.79878	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.33	39	chr1	145292396	.	T	G	95.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.91;MQRankSum=0.047;QD=3.18;ReadPosRankSum=0.975;SOR=0.61	GT:AD:DP:GQ:PL	0/1:25,5:30:99:109,0,806	18	0	1	0
chr1	145855775	145855775	G	T	exonic	PIAS3	.	nonsynonymous SNV	PIAS3:NM_006099:exon5:c.C630A:p.N210K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	0.41750	T	-3.77	0.71397	D	0.673	0.69474	.	.	.	.	.	.	.	0.43661094	0.57834	T	.	.	.	.	.	.	.	.	.	0.921395568751022	0.92115	.	.	.	.	.	0.299705	0.67222	T	.	.	.	.	.	.	.	.	.	0.968703	0.88660	D	.	.	.	.	.	.	.	.	-11.715	0.83436	D	.	.	0.964	0.92926	P	.;.;.	.;.;.	4.084567	0.60783	24.3	.	.	.	.	.	.	0.492659	0.52921	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855000	0.27459	6.293000	0.55401	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	.	.	.	.	.	PINIT domain|PINIT domain;PINIT domain|PINIT domain;PINIT domain|PINIT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	753.33	33	chr1	145855775	.	G	T	753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=683;ExcessHet=0;FS=4.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.86;SOR=0.836	GT:AD:DP:GQ:PL	0/1:37,28:65:99:767,0,902	18	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,47:131:99:.:.:340,0,1637:.	8	0	11	0
chr1	145873351	145873351	A	C	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.T1148G:p.V383G,ANKRD35:NM_144698:exon10:c.T1418G:p.V473G	.	424	1070	27	1	0	29	0.0133702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0014928455548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs139983363	0.0008	0.0008	0.0007	0.0010	0.0057	0.0008	0.0008	0.0053	0.0051	8.961e-05	0.0011	0	0	0	0.0057	0.0005	0.0012	0.0057	0.0008	0.0008	0.0009	0.0008	0.0056	0.0007	0.0007	0.0040	0.0034	0.0001	0	0.0023	0	0	0	0.0136	0.0008	0.0009	0.0056	0.31	0.14017	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.23	0.66652	T	-1.76	0.41618	N	0.054	0.04072	.	.	.	.	.	.	.	0.027429044	0.00890	T	.	.	.	.	.	.	.	.	.	0.5662869157022375	0.56556	.	.	.	.	.	0.00733	0.06742	T	.	.	.	.	.	.	.	.	.	0.454355	0.12956	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.13080	B	.;.	.;.	0.601642	0.09701	6.471	.	.	.	.	.	.	0.067918	0.13374	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432000	0.21180	1.119000	0.24226	0.754000	0.88378	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5596.83	35	chr1	145873351	.	A	C	5596.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.546;DP=2374;ExcessHet=0.119;FS=1.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.27;SOR=0.775	GT:AD:DP:GQ:PL	0/1:82,85:167:99:2138,0,2182	17	0	2	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F,NBPF11:NM_001385470:exon6:c.G475T:p.V159F,NBPF11:NM_001385477:exon6:c.G250T:p.V84F,NBPF11:NM_001385480:exon6:c.G250T:p.V84F,NBPF11:NM_001101663:exon7:c.G475T:p.V159F,NBPF11:NM_001385469:exon7:c.G475T:p.V159F,NBPF11:NM_001385475:exon7:c.G475T:p.V159F,NBPF11:NM_001385479:exon7:c.G250T:p.V84F,NBPF11:NM_183372:exon7:c.G475T:p.V159F,NBPF11:NM_001385471:exon8:c.G475T:p.V159F,NBPF11:NM_001385474:exon8:c.G475T:p.V159F,NBPF11:NM_001385478:exon8:c.G250T:p.V84F,NBPF11:NM_001385472:exon9:c.G475T:p.V159F,NBPF11:NM_001385473:exon9:c.G475T:p.V159F,NBPF11:NM_001385476:exon9:c.G475T:p.V159F	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	1570.43	40	chr1	148123871	.	C	A	1570.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=3.97;DP=783;ExcessHet=0.7564;FS=2.799;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=34.29;MQRankSum=2.75;QD=8.22;ReadPosRankSum=-0.486;SOR=0.94	GT:AD:DP:GQ:PL	0/1:29,14:43:99:419,0,827	15	0	4	0
chr1	149390829	149390829	-	GGCGGCGGCGGCGGA	exonic	NOTCH2NLC	.	nonframeshift insertion	NOTCH2NLC:NM_001364013:exon1:c.42_43insGGCGGCGGCGGCGGA:p.G18_D19insGGGGG	.	31	1450	16	1	24	42	0.00616861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1165196975	0.0042	0.0064	0.0041	0.0043	0.0046	0.0041	0.0040	0.0045	0.0044	0.0011	0.0034	0.0008	8.584e-05	0.0035	0.0029	0.0046	0.0042	0.0013	0.0040	0.0045	0.0040	0.0041	0.0100	0.0038	0.0037	0.0087	0.0082	0.0014	0	0.0100	0.0003	0.0002	0.0022	0	0.0054	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	319.46	14	chr1	149390829	.	C	CGGCGGCGGCGGCGGA	319.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=238;ExcessHet=0;FS=0;InbreedingCoeff=0.021;MLEAC=1;MLEAF=0.026;MQ=59.24;MQRankSum=-0.14;QD=27.2;ReadPosRankSum=1.59;SOR=1.002	GT:AD:DP:GQ:PL	0/1:1,8:9:15:333,0,15	18	0	1	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	.	.	.	.	.	.	.	.	0.07895	461.79	33	chr1	149476000	.	C	A	461.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=5.29;DP=1346;ExcessHet=0.3672;FS=30.186;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.41;MQRankSum=-2.742;QD=0.93;ReadPosRankSum=-3.924;SOR=5.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,16:157:99:0|1:149475995_C_T:213,0,5772:149475995	16	0	3	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	.	.	.	.	.	.	.	.	0.1053	594.42	33	chr1	149476006	.	G	A	594.42	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.17;DP=1693;ExcessHet=0.7564;FS=21.221;InbreedingCoeff=-0.1173;MLEAC=4;MLEAF=0.105;MQ=33.16;MQRankSum=-2.731;QD=0.8;ReadPosRankSum=-3.525;SOR=3.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,18:164:99:0|1:149475995_C_T:258,0,5890:149475995	15	0	4	0
chr1	152080090	152080090	C	T	exonic	LOC100131107	.	nonsynonymous SNV	LOC100131107:NM_001310142:exon1:c.G718A:p.A240T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945775852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1551.33	35	chr1	152080090	.	C	T	1551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=740;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=1;QD=14.1;ReadPosRankSum=1.69;SOR=0.648	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1565,0,1439	18	0	1	0
chr1	152219296	152219296	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2333A:p.R778H	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0002	0.00259585	0.0012	0.0002	0.0002	0.0001	0	8.996e-05	0	0.0078	0.0010867	168	154602	rs144865604	0.0005	0.0005	0.0003	0.0007	0.0071	0.0005	0.0005	0.0066	0.0065	0.0002	0.0002	7.652e-05	0.0002	1.875e-05	0.0007	8.543e-05	0.0007	0.0071	0.0003	0.0003	0.0002	0.0004	0.0045	0.0002	0.0002	0.0030	0.0025	0.0001	0	0.0003	0	0.0006	9.709e-05	0	0.0001	0.0005	0.0045	0.528	0.07071	T	0.544	0.09621	T	0.789	0.44570	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	3.8	0.03781	T	0.52	0.02853	N	0.047	0.01911	-0.9046	0.47493	T	0.001	0.00287	T	9	0.0042338967	0.00085	T	.	.	.	0.105	0.29889	.	.	0.16115917748	0.15686	0.0045458322473725075	0.00427	.	.	0.51973170042	0.41589	T	0.014461	0.12310	T	-0.746148	0.00019	T	-0.839861	0.01100	T	0.0126957465565051	0.00213	T	0.283372	0.04986	T	0.014893002	0.00112	0.023627648	0.00376	0.014893002	0.00112	0.023627648	0.00376	-3.476	0.16098	T	.	.	0.065	0.02012	B	.	.	-1.393695	0.00364	0.007	0.736757070822746	0.10414	0.00011	0.00159	N	AEFBI	0.014617	0.00240	N	-2.77765501593797	0.00003	0.0001555502	-2.93950325928788	0.00002	9.272091e-05	0.999999967041631	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.06	-6.13	0.01937	-5.555000	0.00136	.	.	-6.032000	0.00005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2815:0.1951:0.1983:0.3251	0.028	0.00004	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	4581.33	433	chr1	152219296	.	C	T	4581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.57;DP=6152;ExcessHet=0;FS=4.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.909;SOR=0.898	GT:AD:DP:GQ:PL	0/1:191,160:351:99:4595,0,4795	18	0	1	0
chr1	152313210	152313210	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A1676G:p.H559R	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00189657765422	.	0.000399361	0.0002	0	0	0.0002	0	1.498e-05	0	0.0010	7.68e-05	2	26028	rs546475787	4.515e-05	5.199e-05	3.539e-05	5.5e-05	0.0005	3.641e-05	3.321e-05	0.0004	0.0004	0	2.236e-05	0	7.557e-05	0	0.0002	1.349e-05	0	0.0005	4.609e-05	5.251e-05	3.864e-05	5.388e-05	0.0008	2.113e-05	1.529e-05	0.0003	0.0002	2.418e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0008	0.426	0.09658	T	.	.	.	0.014	0.16867	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	3.75	0.03922	T	-2.69	0.57435	D	0.028	0.00618	-0.9206	0.45472	T	0.002	0.00676	T	9	0.011158943	0.00245	T	0.001897	0.03351	T	0.012	0.01476	0.288	0.24761	0.0666544352282	0.05500	0.03602995618635217	0.03549	.	.	0.217772006989	0.01185	T	0.07341	0.34691	T	-0.629432	0.00096	T	-0.77432	0.02629	T	0.0197914366734268	0.00681	T	0.273273	0.04638	T	0.04894962	0.08613	0.05987489	0.11311	0.04894962	0.08612	0.05987489	0.11311	-0.762	0.00771	T	.	.	0.063	0.01449	B	.	.	-1.094528	0.00647	0.018	0.45361173064219068	0.03554	0.00911	0.03557	N	AEFBI	0.026568	0.02019	N	-1.48082580744116	0.01985	0.08719701	-1.50646139200944	0.02294	0.1052737	1.27825548560164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.04	0.879	0.18290	-0.575000	0.05953	.	.	-1.621000	0.00868	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1742:0.0:0.8258	4.633	0.11897	588	0.69043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	6120.33	480	chr1	152313210	.	T	C	6120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.691;DP=5498;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=-0.89;QD=13.82;ReadPosRankSum=-0.329;SOR=0.56	GT:AD:DP:GQ:PL	0/1:197,246:443:99:6134,0,5331	18	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:110,47:157:99:238,0,1669	7	0	10	2
chr1	155058123	155058123	C	A	exonic	ADAM15	.	nonsynonymous SNV	ADAM15:NM_001261464:exon14:c.C1719A:p.N573K,ADAM15:NM_001261465:exon14:c.C1689A:p.N563K,ADAM15:NM_001261466:exon14:c.C1641A:p.N547K,ADAM15:NM_003815:exon14:c.C1689A:p.N563K,ADAM15:NM_207191:exon14:c.C1689A:p.N563K,ADAM15:NM_207194:exon14:c.C1689A:p.N563K,ADAM15:NM_207195:exon14:c.C1689A:p.N563K,ADAM15:NM_207196:exon14:c.C1689A:p.N563K,ADAM15:NM_207197:exon14:c.C1689A:p.N563K	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.012119429403	0.0014	.	0.0012	0.0004	8.642e-05	0	0.0002	0.0018	0	0.0010	0.0013842	214	154602	rs149853516	0.0018	0.0018	0.0018	0.0018	0.0022	0.0018	0.0017	0.0021	0.0021	0.0003	0.0002	3.828e-05	0	0.0005	0.0007	0.0022	0.0012	0.0008	0.0011	0.0011	0.0012	0.0010	0.0021	0.0010	0.0009	0.0018	0.0017	0.0002	0	0.0003	0	0	0.0006	0	0.0021	0.0019	0.0006	0.039	0.45393	D	0.484	0.36901	T	0.087	0.27581	B	0.155	0.36707	B	0.561789	0.11328	N	0.778199	1	0.08975	N	0.975	0.24501	L	2.06	0.20523	T	-1.85	0.43334	N	0.054	0.12627	-0.9795	0.35117	T	0.021	0.08686	T	10	0.010956824	0.00242	T	0.012119	0.30406	T	0.066	0.19193	0.522	0.62518	0.330069100803	0.32608	0.5733032990743965	0.57259	0.364378373886	0.38050	0.392782390118	0.24061	T	0.136642	0.46913	T	-0.65741	0.00065	T	-0.713375	0.05123	T	0.00795038108975781	0.00094	T	0.632437	0.28920	T	0.07077431	0.15617	0.07908574	0.17772	0.07077431	0.15617	0.07908574	0.17772	-7.397	0.58813	T	.	.	0.123	0.37005	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.327566	0.07015	3.576	0.97528997701562681	0.34448	0.35771	0.25379	N	AEFDGBHCI	0.305258	0.41273	N	-0.549114686263964	0.20512	1.081819	-0.519913467708457	0.21613	1.17002	0.999999842775695	0.74766	0.743674	0.98306	0	0.69481	0.67340	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.39	3.46	0.38718	0.384000	0.20396	-1.376000	0.05585	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.7114:0.193:0.0956	6.726	0.22543	213	0.91726	ADAM, cysteine-rich|ADAM, 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	.	.	.	.	.	.	.	.	0.02632	3558.33	40	chr1	155058123	.	C	A	3558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.727;DP=1077;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.149;SOR=0.708	GT:AD:DP:GQ:PL	0/1:138,133:271:99:3572,0,3603	18	0	1	0
chr1	155752120	155752120	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon30:c.G6313A:p.E2105K,GON4L:NM_001282858:exon30:c.G6310A:p.E2104K,GON4L:NM_001282860:exon30:c.G6313A:p.E2105K	.	0	1450	67	5	0	77	0.025865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0025	0.00579073	0.0062	0.0004	0.0026	0.0002	0.0003	0.0042	0.0089	0.0253	0.0052328	809	154602	rs201235180	0.0040	0.0040	0.0033	0.0048	0.0233	0.0040	0.0039	0.0224	0.0221	0.0006	0.0023	0.0126	7.557e-05	0.0004	0.0163	0.0027	0.0050	0.0233	0.0035	0.0035	0.0033	0.0038	0.0214	0.0033	0.0032	0.0180	0.0168	0.0008	0.0033	0.0060	0.0153	0	9.42e-05	0.0034	0.0036	0.0033	0.0214	0.059	0.37750	T	0.472	0.12176	T	0.501	0.40281	P	0.118	0.38393	B	0.069109	0.21627	N	0.393081	0.688873	0.33306	D	1.5	0.37844	L	2.74	0.11730	T	-0.91	0.24460	N	0.2	0.22098	-1.0192	0.23975	T	0.014	0.05705	T	10	0.0030045211	0.00049	T	.	.	.	0.066	0.19193	.	.	0.225033846419	0.22103	0.22807142473717912	0.22722	2.18874785332	0.95615	0.369694828987	0.20788	T	0.084368	0.37264	T	-0.494657	0.00613	T	-0.465063	0.26050	T	0.0188610296394352	0.00597	T	0.762524	0.38803	T	0.10332762	0.24422	0.089615405	0.20966	0.10332762	0.24422	0.089615405	0.20966	-2.751	0.07742	T	.	.	0.089	0.12228	B	.;.;.;.	.;.;.;.	2.628840	0.34181	19.55	0.9976408111968329	0.85335	0.93716	0.58987	D	AEFGBI	0.207875	0.33400	N	-0.089953946318772	0.37831	2.206798	-0.0311092840130838	0.38317	2.255807	0.826733732227707	0.24620	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	3.138000	0.50265	1.270000	0.25285	0.591000	0.32079	0.676000	0.28402	0.705000	0.26257	0.539000	0.29915	0.0:1.0:0.0:0.0	15.177	0.72599	68	0.97118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012500	0.000000	0.009563	0.000000	0.000000	0.008772	0.015267	0.037815	0.05263	3437.83	40	chr1	155752120	.	C	T	3437.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.04;DP=910;ExcessHet=0.119;FS=4.738;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.97;MQRankSum=0.517;QD=15.35;ReadPosRankSum=2.24;SOR=1.027	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1656,0,1481	17	0	2	0
chr1	160553453	160553453	C	T	exonic	CD84	.	nonsynonymous SNV	CD84:NM_001184882:exon3:c.G343A:p.V115M,CD84:NM_001184879:exon4:c.G685A:p.V229M,CD84:NM_001184881:exon4:c.G685A:p.V229M,CD84:NM_001330742:exon4:c.G685A:p.V229M,CD84:NM_003874:exon4:c.G685A:p.V229M	.	.	.	.	.	.	.	.	.	.	.	2394615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00711300343291	0.0002	0.000399361	0.0004	0.0002	0.0006	0	0	0.0004	0	0.0006	0.0003493	54	154602	rs201878319	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0051	0.0045	0.0006	0.0007	3.826e-05	7.557e-05	0.0001	0.0068	0.0003	0.0007	0.0004	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0003	0.0003	0.0002	0	0.0005	0	0	0	0.0170	0.0004	0.0014	0.0008	0.071	0.36310	T	0.179	0.44302	T	0.994	0.73220	D	0.669	0.56161	P	0.004029	0.01000	N	3.242640	1	0.08975	N	1.245	0.31408	L	1.12	0.38718	T	-0.47	0.16187	N	0.29	0.32812	-1.0842	0.06553	T	0.059	0.24908	T	10	0.06567258	0.08895	T	0.007113	0.18841	T	0.073	0.21317	.	.	0.248417906384	0.24464	0.20674412726661243	0.20590	0.385102580598	0.39804	0.297889351845	0.10088	T	0.139816	0.47403	T	-0.525005	0.00411	T	-0.627747	0.10586	T	0.0220662174145602	0.00916	T	0.738626	0.36121	T	0.024165688	0.01222	0.039502904	0.04059	0.024165688	0.01222	0.039502904	0.04059	-5.368	0.45630	T	.	.	0.091	0.23290	B	.;.;.;.;.	.;.;.;.;.	2.222858	0.28372	17.77	0.99408236674645212	0.63169	0.08415	0.14347	N	AEFBI	0.066530	0.13034	N	-0.546884961705528	0.20580	1.086024	-0.705894362506637	0.16814	0.8912338	0.993605393321828	0.33282	0.489673	0.17934	0	0.71359	0.82159	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	1.78	0.23918	1.453000	0.34778	0.867000	0.22280	-0.225000	0.07834	0.002000	0.15269	0.000000	0.08366	0.011000	0.09372	0.0:0.6224:0.1814:0.1962	4.665	0.12046	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	0.004032	0.005051	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	1279.33	36	chr1	160553453	.	C	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=716;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.307;SOR=0.848	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1293,0,1084	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:169,51:232:99:241,0,3331	7	0	12	0
chr1	161074719	161074719	C	T	exonic	NECTIN4	.	nonsynonymous SNV	NECTIN4:NM_030916:exon5:c.G892A:p.D298N	Ectodermal dysplasia-syndactyly syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0335089076576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.337127	0.14021	N	0.678066	0.571	0.31178	N	.	.	.	-0.85	0.74371	T	2.38	0.00266	N	0.192	0.21056	-1.1021	0.03846	T	0.061	0.25455	T	10	0.18218717	0.33486	T	0.033509	0.55030	D	0.084	0.24469	0.739	0.87147	0.857085195221	0.85570	0.43484219895547804	0.43401	0.477262670099	0.46840	0.406628131866	0.25991	T	0.006716	0.06148	T	-0.213612	0.18874	T	-0.544615	0.17846	T	0.112514942884445	0.13682	T	0.80082	0.44648	T	0.096113175	0.22634	0.069649875	0.14701	0.096113175	0.22633	0.069649875	0.14700	-4.475	0.30560	T	0.1410798179061266	0.15841	0.076	0.05979	B	.	.	2.733719	0.35793	19.99	0.6661408548119373	0.08110	0.50603	0.28701	D	AEFDGBHCI	0.236262	0.35874	N	-0.633538700653549	0.17943	0.927629	-0.444171091138558	0.23714	1.294713	0.999999999999985	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.84	3.93	0.44666	2.139000	0.41773	5.906000	0.50954	0.587000	0.30956	0.994000	0.38300	1.000000	0.68203	0.024000	0.12247	0.0:0.899:0.0:0.101	8.864	0.34432	312	0.87382	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2390.33	34	chr1	161074719	.	C	T	2390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.458;SOR=0.701	GT:AD:DP:GQ:PL	0/1:101,90:191:99:2404,0,2617	18	0	1	0
chr1	161589676	161589676	C	A	exonic	FCGR2C	.	unknown	UNKNOWN	Thrombocytopenic purpura, autoimmune, Autosomal dominant	73	1436	8	4	1	17	0.00554017	.	.	.	2378904	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0009	0.0006	0.0003	0.0008	0	0.0010	0.0011	0.0017	0.0036545	565	154602	rs111603147	0.0026	0.0059	0.0025	0.0027	0.0063	0.0025	0.0025	0.0047	0.0041	0.0015	0.0016	0.0070	0.0008	0.0004	0.0063	0.0027	0.0038	0.0023	0.0041	0.0075	0.0044	0.0038	0.0069	0.0038	0.0037	0.0052	0.0050	0.0015	0.0011	0.0050	0.0109	0.0012	0.0002	0.0180	0.0057	0.0072	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	0.018492132	0.00403	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.417505	0.01775	T	-0.363098	0.37692	T	.	.	.	0.0449955	0.00529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00573	B	.;.	.;.	-1.868752	0.00135	0.002	0.77607354438358023	0.11947	0.00503	0.02366	N	AEFDBHCI	0.024735	0.01579	N	.	.	.	.	.	.	0.773651678474831	0.23715	0.074636	0.01641	0	0.084543	0.02171	0	0.03606	0.00165	1	0.074188	0.01825	0	.	.	3.29	-2.25	0.06498	-0.608000	0.05737	-4.495000	0.02127	-1.602000	0.00892	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3164:0.3218:0.2051:0.1567	0.857	0.01110	878	0.29785	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010395	0.000000	0.012640	0.003049	0.000000	0.053571	0.015823	0.000000	0.02632	273.33	40	chr1	161589676	.	C	A	273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.23;DP=2091;ExcessHet=0;FS=68.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.64;MQRankSum=-7.437;QD=1.31;ReadPosRankSum=-1.035;SOR=6.518	GT:AD:DP:GQ:PL	0/1:183,25:208:99:287,0,4916	18	0	1	0
chr1	162000256	162000256	A	G	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon5:c.T809C:p.L270P,OLFML2B:NM_001347700:exon5:c.T812C:p.L271P,OLFML2B:NM_015441:exon5:c.T806C:p.L269P	.	427	1041	49	5	0	59	0.0275572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	.	0.0052	0.0163738	0.0110	0.0012	0.0029	0.0267	0.0035	0.0069	0.0033	0.0348	0.0106014	1639	154602	rs36108216	0.0100	0.0100	0.0092	0.0108	0.0383	0.0099	0.0098	0.0367	0.0360	0.0014	0.0024	0.0023	0.0383	0.0030	0.0119	0.0081	0.0107	0.0350	0.0063	0.0062	0.0060	0.0065	0.0333	0.0059	0.0058	0.0291	0.0275	0.0014	0	0.0038	0.0020	0.0286	0.0025	0.0102	0.0070	0.0071	0.0333	1.0	0.00964	T	0.489	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.613512	0.30840	N	-2.3	0.00097	N	-2.1	0.86146	D	3.01	0.00139	N	0.149	0.15187	-1.0508	0.14175	T	0.104	0.38267	T	8	0.002799362	0.00044	T	.	.	.	0.163	0.42028	.	.	.	.	0.2975862296045127	0.29671	0.189314342054	0.21244	0.325660854578	0.14277	T	0.003411	0.02940	T	-0.419719	0.01717	T	-0.350606	0.39136	T	0.00607611392748956	0.00067	T	0.0740926	0.00542	T	0.06410804	0.13569	0.16543847	0.38273	0.056234624	0.11036	0.16543847	0.38272	-2.908	0.09223	T	.	.	0.039	0.00012	B	.;.	.;.	1.636349	0.20887	14.96	0.082463429766814644	0.00061	0.01198	0.04275	N	AEFGBI	0.049340	0.08514	N	-1.07762642481418	0.07058	0.3267191	-0.873541528536387	0.12723	0.6561108	0.999993348183365	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.22	5.22	0.72285	2.280000	0.43103	5.673000	0.49264	-0.103000	0.15852	0.978000	0.35038	1.000000	0.68203	0.012000	0.09680	0.0856:0.0:0.9144:0.0	11.83	0.51565	900	0.24599	.;.	C1orf226	Whole_Blood	.	.	.	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	0.013595	0.005051	0.006793	0.011696	0.000000	0.008621	0.018293	0.037879	0.02632	1306.33	34	chr1	162000256	.	A	G	1306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.347;DP=749;ExcessHet=0;FS=6.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.52;SOR=0.537	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1320,0,1267	18	0	1	0
chr1	162017501	162017501	T	C	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon3:c.A445G:p.T149A,OLFML2B:NM_001347700:exon3:c.A445G:p.T149A,OLFML2B:NM_015441:exon3:c.A445G:p.T149A	.	413	1106	3	0	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00646140959682	0.0007	.	0.0005	9.639e-05	0.0003	0	0	0.0009	0	6.082e-05	0.0004592	71	154602	rs145092080	0.0004	0.0004	0.0004	0.0004	0.0002	0.0004	0.0003	0.0001	9.608e-05	6.011e-05	0.0002	0.0133	0	0	0.0002	0.0001	0.0011	3.514e-05	0.0005	0.0005	0.0005	0.0006	0.0003	0.0004	0.0004	0.0001	0.0001	0	0	0.0003	0.0170	0	0	0	0.0002	0.0005	0.0002	0.077	0.34095	T	0.083	0.41405	T	0.934	0.52202	P	0.268	0.40804	B	.	.	.	.	0.81688	0.34719	D	1.87	0.49600	L	0.68	0.51952	T	-1.1	0.28497	N	0.275	0.37717	-1.0113	0.26510	T	0.065	0.26702	T	8	0.008276373	0.00188	T	0.006461	0.17014	T	0.067	0.19503	.	.	0.61403422888	0.61091	0.4065038612741242	0.40566	0.128866554687	0.14530	0.487339287996	0.37071	T	0.004171	0.19202	T	-0.27896	0.10777	T	-0.338159	0.40553	T	0.0215449605777779	0.00858	T	0.712229	0.32360	T	0.073375404	0.16392	0.1157559	0.27944	0.073375404	0.16391	0.1157559	0.27943	-9.533	0.71064	D	.	.	0.076	0.10835	B	.;.	.;.	2.613970	0.33953	19.49	0.99355653585456261	0.60779	0.90391	0.51529	D	AEFBI	0.612474	0.60053	D	0.272402804691641	0.54755	3.640318	0.348360419010825	0.58408	4.011196	0.999996108947436	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	1.466000	0.34919	4.166000	0.42242	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.400	0.60323	917	0.20147	.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	960.33	34	chr1	162017501	.	T	C	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.049;DP=713;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.23;SOR=1.089	GT:AD:DP:GQ:PL	0/1:42,40:82:99:974,0,1100	18	0	1	0
chr1	167126231	167126231	A	C	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon6:c.A1100C:p.Q367P	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.00698882	0.0052	0	0	0.0523	0	0.0003	0	0.0035	0.0023286	360	154602	rs117105149	0.0018	0.0017	0.0017	0.0018	0.0547	0.0017	0.0017	0.0528	0.0520	3.194e-05	0	0	0.0547	0	0.0011	0.0001	0.0012	0.0019	0.0015	0.0016	0.0014	0.0017	0.0396	0.0014	0.0013	0.0352	0.0334	0	0	6.544e-05	0	0.0396	0	0	0.0002	0.0005	0.0029	0.09	0.31987	T	0.24	0.24406	T	0.001	0.07471	B	0.001	0.04355	B	0.002538	0.00895	N	3.126360	1	0.08975	N	0.805	0.20218	L	3.93	0.03435	T	-0.51	0.15986	N	0.096	0.09631	-0.9070	0.47215	T	0.003	0.00897	T	10	0.002829343	0.00045	T	.	.	.	0.011	0.01250	.	.	0.0611884634855	0.05136	0.10036524088444965	0.09967	0.0503304759657	0.05522	0.222468584776	0.01457	T	7.32E-4	0.00340	T	-0.732831	0.00023	T	-0.771984	0.02704	T	0.0155254965460219	0.00352	T	0.265773	0.04346	T	0.06418571	0.13594	0.0531769	0.08908	0.06418571	0.13593	0.0531769	0.08907	-3.38	0.14788	T	.	.	0.060	0.01960	B	.;.;.	.;.;.	-1.779218	0.00164	0.002	0.61244081616762691	0.06661	0.09926	0.15569	N	AEFDBCI	0.247843	0.36835	N	-1.32367449042492	0.03406	0.1520817	-1.38542917108379	0.03407	0.1588395	0.579932890001882	0.21562	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.53	-2.71	0.05633	-0.533000	0.06245	-8.240000	0.01003	-1.488000	0.01048	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3026:0.2908:0.3023:0.1043	2.393	0.04117	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	0.002024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003817	0.02632	622.33	46	chr1	167126231	.	A	C	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.038;DP=832;ExcessHet=0;FS=3.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.771;SOR=1.23	GT:AD:DP:GQ:PL	0/1:29,24:53:99:636,0,786	18	0	1	0
chr1	171024410	171024410	C	T	exonic	MROH9	.	stopgain	MROH9:NM_001163629:exon18:c.C1924T:p.R642X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887844273	5.003e-06	5.472e-06	7.052e-06	2.898e-06	6.311e-05	2.08e-06	1.34e-06	2.444e-05	1.538e-05	3.166e-05	0	0	0	0	0	9.269e-07	0	6.311e-05	6.604e-06	6.577e-06	1.29e-05	0	2.428e-05	0	0	.	.	2.428e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448121	0.92396	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.848325	0.98108	38	0.99598677063740071	0.74042	0.93642	0.58778	D	AEFI	0.079390	0.16034	N	0.535814477214288	0.69222	5.326574	0.340904688959733	0.57961	3.964133	5.70474658080084E-4	0.07335	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	4.29	0.50359	1.976000	0.40202	1.930000	0.29765	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.036000	0.13842	0.1892:0.8108:0.0:0.0	10.769	0.45510	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	977.33	34	chr1	171024410	.	C	T	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-1.886;SOR=0.874	GT:AD:DP:GQ:PL	0/1:25,33:58:99:991,0,650	18	0	1	0
chr1	179108280	179108280	G	C	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001168236:exon11:c.C2924G:p.P975R,ABL2:NM_001168238:exon12:c.C2615G:p.P872R,ABL2:NM_001168239:exon12:c.C2570G:p.P857R,ABL2:NM_005158:exon12:c.C2942G:p.P981R,ABL2:NM_007314:exon12:c.C2987G:p.P996R,ABL2:NM_001136000:exon13:c.C2633G:p.P878R,ABL2:NM_001168237:exon13:c.C2678G:p.P893R	Leukemia, acute myeloid, with eosinophilia (1)	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	0.0007	0.00519169	0.0032	0	0.0002	0.0250	0.0054	0.0013	0.0022	0.0027	0.0028331	438	154602	rs28913890	0.0016	0.0016	0.0016	0.0016	0.0236	0.0015	0.0015	0.0224	0.0219	8.961e-05	0.0004	0.0005	0.0236	0.0052	0.0005	0.0006	0.0018	0.0032	0.0016	0.0017	0.0014	0.0018	0.0229	0.0015	0.0014	0.0195	0.0183	9.628e-05	0	0.0005	0.0017	0.0229	0.0038	0	0.0009	0.0005	0.0025	0.007	0.68238	D	0.554	0.25135	T	0.999	0.90584	D	0.952	0.74454	D	0.044510	0.23631	N	0.299003	0.583504	0.31080	N	0.55	0.14455	N	-1.09	0.78860	T	-0.96	0.43524	N	0.238	0.42639	-0.1567	0.78752	T	0.345	0.70980	T	10	0.004825115	0.00102	T	.	.	.	0.246	0.55340	.	.	0.935656210754	0.93499	0.144452615564249	0.14368	0.270108457044	0.29533	0.401100724936	0.25221	T	0.119907	0.44177	T	-0.368798	0.03655	T	-0.283605	0.46435	T	0.0442241428594562	0.04461	T	0.905509	0.66687	D	0.07240628	0.16103	0.077165	0.17164	0.07240628	0.16103	0.077165	0.17163	-4.564	0.34310	T	.	.	0.135	0.44796	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.222508	0.43917	21.8	0.9970370742458029	0.80798	0.96549	0.69696	D	AEFDBHCI	0.613123	0.60094	D	0.398415502198905	0.61338	4.333323	0.434318903133604	0.63716	4.611026	0.99999999996752	0.74766	0.744818	0.98587	0	0.546412	0.12157	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	4.88	4.88	0.63131	4.884000	0.62827	6.260000	0.55343	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:1.0:0.0	15.691	0.77215	488	0.76887	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1117.33	33	chr1	179108280	.	G	C	1117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.255;DP=728;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.897;SOR=0.78	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1131,0,1480	18	0	1	0
chr1	197104066	197104066	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C5185T:p.R1729W	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	4	1426	86	6	0	98	0.0332203	.	.	.	101785	ASPM-related_disorder|not_provided|not_specified|Microcephaly_5,_primary,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.279	.	0.0094	0.00539137	0.0096	0.0018	0.0087	0.0006	0.0018	0.0124	0.0177	0.0113	0.0092366	1428	154602	rs41299623	0.0098	0.0098	0.0095	0.0101	0.0224	0.0097	0.0096	0.0192	0.0181	0.0013	0.0109	0.0190	0.0005	0.0027	0.0224	0.0102	0.0102	0.0125	0.0083	0.0083	0.0084	0.0082	0.0148	0.0079	0.0077	0.0132	0.0126	0.0016	0.0022	0.0148	0.0165	0.0002	0.0024	0.0204	0.0117	0.0171	0.0091	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.74104	D	0.039326	0.24182	N	0.428411	1	0.81001	D	3.72	0.94773	H	1.53	0.30401	T	-3.96	0.73579	D	0.393	0.43417	-0.5736	0.65871	T	0.193	0.54652	T	10	0.004125327	0.00081	T	.	.	.	0.279	0.59619	.	.	0.3349148499	0.33108	0.08892445824681566	0.08825	.	.	0.236045047641	0.02445	T	0.339384	0.70854	T	-0.425924	0.01569	T	-0.37291	0.36548	T	0.0830932680580513	0.10378	T	0.905509	0.66687	D	0.4028834	0.60932	0.50360066	0.71306	0.4028834	0.60932	0.50360066	0.71306	-8.839	0.66655	D	0.566896680356971	0.63430	0.140	0.30608	B	.	.	4.136525	0.61946	24.4	0.99919287988164351	0.98654	0.85522	0.44663	D	AEFBCI	0.422085	0.48823	N	0.632367860663397	0.75231	6.269803	0.526582881682223	0.69785	5.410109	0.991712705357451	0.32584	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	2.847000	0.47970	1.577000	0.27452	0.618000	0.50648	0.647000	0.28146	0.003000	0.18671	0.988000	0.63387	0.0:0.0:0.858:0.142	16.062	0.80647	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	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	0.021148	0.010101	0.020380	0.014620	0.100000	0.051724	0.033537	0.015152	0.07895	7235.79	51	chr1	197104066	.	G	A	7235.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.054;DP=1999;ExcessHet=0.3672;FS=1.733;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.335;SOR=0.573	GT:AD:DP:GQ:PL	0/1:64,89:153:99:2477,0,1702	16	0	3	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,21:124:99:.:.:281,0,3411:.	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,27:126:99:.:.:335,0,3410:.	9	0	10	0
chr1	205580805	205580805	G	A	exonic	MFSD4A	.	nonsynonymous SNV	MFSD4A:NM_181644:exon3:c.G574A:p.G192S	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0007	0.0211661	0.0118	0.0012	0.0636	0.0247	0	0.0009	0.0077	0.0247	0.0116169	1796	154602	rs146109722	0.0046	0.0046	0.0043	0.0049	0.0643	0.0045	0.0044	0.0623	0.0615	0.0007	0.0643	0.0090	0.0223	0	0.0026	0.0002	0.0072	0.0229	0.0082	0.0083	0.0067	0.0098	0.0538	0.0079	0.0077	0.0508	0.0496	0.0016	0	0.0538	0.0127	0.0254	0	0.0068	0.0005	0.0095	0.0282	0.758	0.03502	T	0.802	0.04431	T	0.002	0.15914	B	0.011	0.15521	B	0.533931	0.11608	N	0.823047	0.999998	0.58761	D	.	.	.	1.94	0.22678	T	0.5	0.02945	N	0.033	0.04188	-0.9678	0.37652	T	0.004	0.01295	T	10	0.001856327	0.00025	T	.	.	.	0.024	0.04979	.	.	.	.	0.43747557879175863	0.43664	0.440170072051	0.44032	0.267308205366	0.05792	T	0.02633	0.43997	T	-0.629407	0.00096	T	-0.629762	0.10433	T	0.00242273152368404	0.00025	T	0.706729	0.31713	T	0.034399476	0.03852	0.051730637	0.08382	0.034399476	0.03852	0.051730637	0.08382	-2.892	0.09064	T	.	.	0.070	0.11027	B	.;.;.;.	.;.;.;.	1.639639	0.20925	14.97	0.89235622399323533	0.18624	0.82127	0.41403	D	AEFDGBI	0.164995	0.29144	N	-0.600478964880561	0.18930	0.9867911	-0.420479511028924	0.24397	1.335719	0.99992813454296	0.46280	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.67	1.75	0.23707	1.005000	0.29436	3.682000	0.39470	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.881000	0.42162	0.3059:0.0:0.6941:0.0	7.306	0.25624	672	0.60758	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.012195	0.015152	0.02632	2493.33	45	chr1	205580805	.	G	A	2493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=834;ExcessHet=0;FS=2.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.574;SOR=0.532	GT:AD:DP:GQ:PL	0/1:89,91:180:99:2507,0,2220	18	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1471	131.11	54	chr1	220074013	.	G	A	131.11	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-3.058;DP=1660;ExcessHet=1.3;FS=292.203;InbreedingCoeff=-0.1978;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.63;SOR=11.716	GT:AD:DP:GQ:PL	0/1:60,26:94:35:35,0,1231	12	0	5	2
chr1	225271985	225271985	C	T	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon51:c.C7751T:p.S2584F	.	.	.	.	.	.	.	.	.	.	.	2197577	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0619419502729	.	.	0.0001	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs569630401	0.0003	0.0003	0.0003	0.0003	0.0028	0.0003	0.0002	0.0018	0.0014	6.334e-05	0.0001	0	0	0	0.0028	0.0003	0.0001	0.0004	7.225e-05	7.219e-05	0.0001	4.03e-05	0.0002	3.97e-05	3.126e-05	4.766e-05	3.34e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0002	0.005	0.63226	D	0.003	0.76473	D	0.997	0.70673	D	0.943	0.67921	D	.	.	.	.	1	0.20887	N	.	.	.	0.96	0.42888	T	-4.13	0.75139	D	0.355	0.45520	-0.8998	0.48014	T	0.191	0.54345	T	8	0.31261435	0.48720	T	0.061942	0.68494	D	0.075	0.21907	.	.	0.450831855234	0.44704	.	.	.	.	0.525341153145	0.42379	T	.	.	.	-0.442364	0.01252	T	-0.577009	0.14813	T	0.405397402881497	0.29145	T	0.508649	0.16166	T	.	.	.	.	.	.	.	.	-9.151	0.68664	D	.	.	.	.	.	.;.	.;.	2.395498	0.30769	18.54	0.99758066777162491	0.84851	0.13620	0.17958	N	AEFI	0.115143	0.22652	N	-0.132526208299208	0.35980	2.073743	-0.275974899743546	0.28892	1.614427	2.90055065952882E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	3.68	0.41359	1.319000	0.33260	0.558000	0.19484	-0.266000	0.06809	0.028000	0.20300	0.075000	0.22287	0.072000	0.16771	0.0:0.7081:0.2919:0.0	13.871	0.63119	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004658	0.000000	0.012195	0.009804	0.000000	0.000000	0.000000	0.000000	0.02632	1774.33	33	chr1	225271985	.	C	T	1774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=793;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.851;SOR=0.76	GT:AD:DP:GQ:PL	0/1:88,69:157:99:1788,0,2128	18	0	1	0
chr1	228148724	228148724	G	A	exonic	GUK1	.	nonsynonymous SNV	GUK1:NM_001242840:exon7:c.G598A:p.G200R	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00160157774497	.	0.000998403	0.0017	0.0001	0.0006	0	0.0002	0.0006	0.0034	0.0096	0.0013648	211	154602	rs72756242	0.0012	0.0012	0.0009	0.0015	0.0091	0.0011	0.0011	0.0085	0.0083	5.975e-05	0.0008	0.0009	0	0.0005	0.0042	0.0007	0.0011	0.0091	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0005	0.0046	0.0040	7.215e-05	0	0.0003	0.0012	0.0002	0.0004	0	0.0006	0.0005	0.0064	0.008	0.58626	D	0.288	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.76	0.02007	N	0.114	0.10198	-0.9993	0.30115	T	0.048	0.20355	T	6	0.0038777292	0.00073	T	0.001602	0.02574	T	0.035	0.08770	0.246	0.18139	0.159798565429	0.15598	0.6236756774860084	0.62300	0.351213491318	0.36967	0.215331941843	0.01058	T	0.00624	0.05676	T	-0.482266	0.00717	T	-0.458695	0.26743	T	0.0203556797957862	0.00735	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.113	0.22135	B	.;.	.;.	0.897310	0.12713	9.232	0.50664977611908646	0.04424	0.10357	0.15886	N	AEFDGBCI	0.328099	0.42887	N	-1.30896307039602	0.03572	0.1597915	-1.45459660276873	0.02729	0.1260354	0.999993240608195	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	2.99	-2.32	0.06360	0.268000	0.18336	-0.302000	0.10107	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5977:0.0:0.4023:0.0	8.373	0.31591	551	0.72115	.;Guanylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3902.85	42	chr1	228148724	.	G	A	3902.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=878;ExcessHet=0.119;FS=2.119;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.812;SOR=0.563	GT:AD:DP:GQ:PL	0/1:45,69:114:99:1970,0,1063	18	0	1	0
chr1	228338877	228338877	T	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon69:c.T17109A:p.S5703R,OBSCN:NM_052843:exon69:c.T17109A:p.S5703R,OBSCN:NM_001271223:exon80:c.T19980A:p.S6660R	.	3	1476	43	0	0	43	0.0143573	.	.	.	707172	not_specified|not_provided|OBSCN-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0072	0.00439297	0.0085	0.0032	0.0078	0	0.0221	0.0137	0.0110	0.0049	0.0037451	579	154602	rs144372515	0.0090	0.0088	0.0091	0.0089	0.0096	0.0088	0.0088	0.0094	0.0093	0.0016	0.0047	0.0088	0	0.0185	0.0096	0.0095	0.0085	0.0051	0.0078	0.0078	0.0071	0.0085	0.0103	0.0074	0.0072	0.0097	0.0095	0.0016	0	0.0059	0.0112	0	0.0224	0.0068	0.0103	0.0095	0.0050	0.12	0.31987	T	0.037	0.54934	D	0.911	0.51527	P	0.563	0.53781	P	0.000761	0.41888	D	0.234553	0.767852	0.29469	N	1.67	0.42885	L	-0.05	0.63403	T	-2.56	0.60188	D	0.399	0.51672	-0.7585	0.57487	T	0.129	0.43807	T	10	0.0076900125	0.00175	T	.	.	.	0.269	0.58381	0.399	0.42753	0.775179878316	0.77311	0.22355228075459652	0.22270	0.481082541516	0.47111	0.339352577925	0.16341	T	0.223911	0.58819	T	-0.381875	0.03032	T	-0.311919	0.43453	T	0.0406107610455908	0.03802	T	0.886611	0.61335	D	0.4041637	0.61020	0.26578072	0.52415	0.34331718	0.56543	0.26578072	0.52414	-9.811	0.76109	D	.	.	0.243	0.47730	B	.;.;.;.;.	.;.;.;.;.	1.813313	0.23047	15.86	0.99309160238229743	0.58943	0.69024	0.34025	D	AEFDBHCI	0.227568	0.35136	N	-0.252870599699199	0.30990	1.733249	-0.303343319951633	0.27991	1.557217	0.939069188608006	0.27371	0.631981	0.41245	0	0.588015	0.36545	0	0.779548	0.98927	0	0.562822	0.20929	0	.	.	4.97	-0.0965	0.12973	-0.109000	0.10810	0.198000	0.15820	-0.321000	0.05860	0.555000	0.27385	0.973000	0.29867	0.153000	0.20410	0.0:0.5866:0.0:0.4134	10.255	0.42566	436	0.80373	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.013130	0.020619	0.019943	0.005917	0.000000	0.000000	0.009804	0.015748	0.02632	778.33	35	chr1	228338877	.	T	A	778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.576;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-1.056;SOR=0.781	GT:AD:DP:GQ:PL	0/1:22,30:52:99:792,0,579	18	0	1	0
chr1	228371471	228371471	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon94:c.G20693A:p.R6898Q,OBSCN:NM_001271223:exon105:c.G23564A:p.R7855Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.410982452677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450865662	8.343e-06	9.577e-06	7.414e-06	9.315e-06	0.0002	4.48e-06	3.27e-06	2.827e-05	1.844e-05	3.476e-05	0	0	0	3.035e-05	0.0002	2.865e-06	0	7.283e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.013	0.63109	D	0.921	0.51088	P	0.137	0.33328	B	.	.	.	.	0.959024	0.26202	N	2.045	0.56016	M	-0.13	0.64818	T	-2.09	0.47683	N	0.388	0.47949	-0.8175	0.54090	T	0.142	0.46386	T	9	0.2530918	0.42672	T	0.410982	0.93598	D	0.128	0.35103	0.352	0.35084	0.714994035518	0.71249	0.10976665725737786	0.10905	0.28308762168	0.30759	0.808196663857	0.83215	D	0.045783	0.27227	T	-0.0569046	0.43390	T	-0.319516	0.42628	T	0.391845953442734	0.28634	T	0.860114	0.55285	D	0.13559434	0.31463	0.126094	0.30372	0.13559434	0.31463	0.126094	0.30371	-4.369	0.29133	T	.	.	0.210	0.43815	B	.;.;.;.	.;.;.;.	3.682024	0.52413	23.2	0.97975308420999507	0.37283	0.06315	0.12312	N	AEFDBHCIJ	0.073296	0.14656	N	-0.0513678528665672	0.39541	2.333489	-0.0774486829198161	0.36324	2.112492	0.999964993635592	0.48965	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.41	4.41	0.52588	3.574000	0.53608	5.590000	0.48994	0.667000	0.69007	0.252000	0.24869	0.999000	0.35428	0.211000	0.22211	0.1061:0.0:0.8939:0.0	9.652	0.39066	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	0	0	0.000558	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1152.33	36	chr1	228371471	.	G	A	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.231;DP=744;ExcessHet=0;FS=6.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=0.949;SOR=0.235	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1166,0,568	18	0	1	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	.	.	.	.	.	.	.	.	0.02632	2104.33	33	chr1	230997240	.	A	G	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.037;DP=752;ExcessHet=0;FS=1.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.398;SOR=0.867	GT:AD:DP:GQ:PL	0/1:45,79:124:99:2118,0,1121	18	0	1	0
chr1	235450235	235450235	C	T	exonic	B3GALNT2	.	nonsynonymous SNV	B3GALNT2:NM_152490:exon12:c.G1474A:p.G492S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, Autosomal recessive	431	1090	1	0	0	1	0.000458505	.	.	.	627436	Inborn_genetic_diseases|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_11	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014071,MedGen:C3554638,OMIM:615181,Orphanet:588,Orphanet:899	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0483030077994	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs772910525	4.036e-05	4.036e-05	4.084e-05	3.988e-05	0.0003	3.179e-05	2.91e-05	0.0002	0.0001	0	0.0003	0	5.038e-05	3.744e-05	0	3.597e-05	1.656e-05	1.159e-05	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0011	0.0009	0	0	0.0016	0	0	0	0	4.41e-05	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	N	0.048396	1	0.81001	D	2.39	0.68882	M	0.24	0.59583	T	-2.55	0.55181	D	0.314	0.35408	-0.3431	0.73753	T	0.354	0.71720	T	10	0.37178642	0.53531	T	0.048303	0.63314	D	0.228	0.52768	.	.	0.671345282208	0.66856	0.8588521848283246	0.85848	0.251185137264	0.27696	0.434322297573	0.29801	T	0.274212	0.64669	T	-0.230336	0.16604	T	-0.25812	0.49011	T	0.270329954457315	0.23762	T	.	.	.	0.4943674	0.66762	0.37197918	0.62416	0.4943674	0.66763	0.37197918	0.62416	-5.634	0.43102	T	.	.	0.111	0.21541	B	.	.	3.538852	0.49694	22.8	0.9972508779899002	0.82336	0.98205	0.80520	D	AEFBI	0.611416	0.59987	D	0.296117562359086	0.55952	3.759302	0.151828156709862	0.47240	2.957147	0.999999992107503	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.34	4.43	0.52967	4.463000	0.59863	2.283000	0.31910	0.599000	0.40250	0.998000	0.41325	0.938000	0.28711	0.022000	0.11911	0.0:0.9271:0.0:0.0729	14.065	0.64350	356	0.85138	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	33	chr1	235450235	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.36;SOR=0.765	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1385,0,1415	18	0	1	0
chr1	236042113	236042113	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon4:c.C932T:p.T311M	.	.	.	.	.	.	.	.	.	.	.	3361930	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.0909937636566	.	0.000399361	0.0001	9.63e-05	0	0.0014	0	2.999e-05	0	0.0001	0.0001294	20	154602	rs202199892	0.0001	0.0001	0.0001	0.0001	0.0013	9.603e-05	9.082e-05	0.0010	0.0009	5.974e-05	0	0	0.0013	0	0	8.273e-05	0.0001	9.275e-05	8.539e-05	8.531e-05	2.57e-05	0.0001	0.0014	4.956e-05	3.961e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	7.349e-05	0.0005	0	0.092	0.37326	T	0.113	0.38160	T	0.992	0.64738	D	0.752	0.56092	P	0.022340	0.01571	N	2.075870	1	0.08975	N	2.2	0.62015	M	-2.39	0.88377	D	-0.75	0.21003	N	0.371	0.41261	-0.3607	0.73242	T	0.702	0.89749	D	10	0.03138846	0.01274	T	0.090994	0.75624	D	0.288	0.60691	.	.	0.828379590711	0.82675	0.40058197217904007	0.39973	0.243833454048	0.26889	0.342543840408	0.16819	T	0.06221	0.31857	T	-0.31935	0.06951	T	-0.289276	0.45849	T	0.0696443244814873	0.08601	T	0.663534	0.27241	T	0.016070353	0.00174	0.031098526	0.01652	0.016070353	0.00174	0.031098526	0.01652	-6.763	0.52283	T	0.15872178712488938	0.19251	0.086	0.10545	B	.;.	.;.	1.652749	0.21087	15.04	0.98630468838619834	0.43906	0.07842	0.13835	N	AEFBI	0.100966	0.20290	N	-0.389797175534908	0.25832	1.405204	-0.559618694863696	0.20550	1.107716	2.34160340560943E-4	0.06095	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	2.14	0.26518	0.464000	0.21700	1.002000	0.23268	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0799:0.0:0.6136:0.3065	7.062	0.24312	484	0.77165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1588.33	33	chr1	236042113	.	G	A	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=737;ExcessHet=0;FS=6.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.333;SOR=1.236	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1602,0,974	18	0	1	0
chr1	241634250	241634250	T	C	exonic	CHML	.	nonsynonymous SNV	CHML:NM_001821:exon1:c.A1517G:p.Y506C,CHML:NM_001381853:exon2:c.A1517G:p.Y506C,CHML:NM_001381854:exon2:c.A1517G:p.Y506C	.	.	.	.	.	.	.	.	.	.	.	3653168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.769	0.293203099161	.	0.000199681	2.476e-05	0.0002	8.729e-05	0	0	0	0	0	2.59e-05	4	154602	rs561929720	1.368e-05	1.368e-05	1.225e-05	1.513e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	5.975e-05	2.237e-05	0	5.038e-05	1.873e-05	0.0003	8.994e-06	1.656e-05	1.159e-05	3.94e-05	3.937e-05	3.856e-05	4.028e-05	0.0001	1.715e-05	1.129e-05	6.268e-05	4.29e-05	0.0001	0	0	0	0	0	0	0	0	0	0.07	0.35349	T	0.032	0.53426	D	0.627	0.40110	P	0.544	0.49014	P	0.001039	0.40562	N	0.218373	1	0.81001	D	2.71	0.79292	M	-2.73	0.90679	D	-6.3	0.90771	D	0.455	0.49237	0.388	0.88919	D	0.710	0.90017	D	9	0.47581998	0.60136	T	0.293203	0.90634	D	0.769	0.92212	0.756	0.88567	0.950647530627	0.95012	0.795560179930133	0.79509	0.109782325382	0.12377	0.531728565693	0.43278	T	0.671128	0.90240	D	-0.00672577	0.50723	T	0.0319975	0.72408	D	0.259040545129927	0.23273	T	0.887611	0.61581	D	0.32286388	0.54880	0.31271243	0.57272	0.32286388	0.54880	0.31271243	0.57271	-9.159	0.68714	D	.	.	0.143	0.31431	B	.	.	3.559449	0.50079	22.9	0.99528174702492378	0.69715	0.65438	0.32737	D	AEFDGBI	0.094467	0.19100	N	0.146264678114236	0.48636	3.073383	0.174862063256022	0.48474	3.062805	0.999997028165979	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	3.95	0.44952	-0.195000	0.09546	3.281000	0.37231	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	0.983000	0.59808	0.0:0.0844:0.0:0.9156	9.412	0.37661	890	0.26919	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2423.33	33	chr1	241634250	.	T	C	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.755;DP=791;ExcessHet=0;FS=1.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.51;SOR=0.84	GT:AD:DP:GQ:PL	0/1:74,89:163:99:2437,0,1965	18	0	1	0
chr1	246843811	246843811	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon34:c.A6509G:p.K2170R,AHCTF1:NM_001323343:exon34:c.A6509G:p.K2170R,AHCTF1:NM_015446:exon34:c.A6536G:p.K2179R	.	1055	460	2	5	0	12	0.0128755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00698120750387	0.0018	0.00239617	0.0025	0.0001	0.0024	0.0001	0	0.0035	0.0025	0.0029	0.0020763	321	154602	rs146417813	0.0017	0.0018	0.0016	0.0018	0.0188	0.0016	0.0016	0.0153	0.0140	0.0003	0.0012	0.0089	5.844e-05	6.274e-05	0.0188	0.0015	0.0029	0.0028	0.0017	0.0017	0.0019	0.0015	0.0025	0.0015	0.0015	0.0022	0.0020	0.0003	0	0.0016	0.0095	0	0	0.0204	0.0025	0.0033	0.0023	0.653	0.04802	T	0.579	0.08685	T	0.001	0.07471	B	0.002	0.06944	B	0.189287	0.16890	N	0.602060	1	0.08975	N	1.13	0.28900	L	1.61	0.28391	T	-0.37	0.13226	N	0.064	0.05929	-1.0223	0.22965	T	0.030	0.13067	T	10	0.0053425133	0.00117	T	0.006981	0.18485	T	0.016	0.02506	.	.	0.252829632966	0.24901	0.06322072602380963	0.06261	0.201751063607	0.22580	0.21403862536	0.00995	T	0.035666	0.23808	T	-0.707788	0.00033	T	-0.79408	0.02055	T	0.0024258184804653	0.00025	T	0.587941	0.21519	T	0.03907174	0.05327	0.032779865	0.02066	0.03907174	0.05327	0.032779865	0.02066	-4.685	0.33222	T	.	.	0.083	0.09094	B	.;.;.	.;.;.	-0.590436	0.01598	0.108	0.55561035985374962	0.05368	0.02980	0.07830	N	AEFGBI	0.039816	0.05836	N	-1.14112630310275	0.05927	0.2715225	-1.14568492292391	0.06846	0.3309162	2.66950826835638E-4	0.06244	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.17	-0.428	0.11693	-0.560000	0.06055	-4.093000	0.02347	0.609000	0.47794	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.1555:0.4186:0.0:0.4259	4.495	0.11245	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009073	0.000000	0.005435	0.002924	0.000000	0.025862	0.012195	0.026515	0.02632	372.33	34	chr1	246843811	.	T	C	372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.018;DP=591;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.223;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,18:26:99:386,0,158	18	0	1	0
chr1	247738768	247738768	C	T	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.C154T:p.R52C	.	426	1062	34	0	0	34	0.0157553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0066	0.00279553	0.0071	0.0009	0.0027	0	0.0012	0.0110	0.0111	0.0044	0.0070633	1092	154602	rs151028061	0.0076	0.0076	0.0073	0.0078	0.0200	0.0074	0.0073	0.0165	0.0153	0.0016	0.0046	0.0077	5.545e-05	0.0022	0.0200	0.0102	0.0082	0.0050	0.0054	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0082	0.0080	0.0016	0	0.0046	0.0081	0	0.0009	0.0204	0.0088	0.0043	0.0052	0.122	0.27663	T	0.091	0.40110	T	.	.	.	.	.	.	0.130435	0.18659	U	0.376625	1	0.08975	N	.	.	.	7.73	0.00343	T	-3.71	0.70674	D	0.162	0.17002	-0.9128	0.46505	T	0.000	0.00152	T	7	0.013116866	0.00279	T	.	.	.	0.055	0.15663	.	.	0.0551355673512	0.04727	0.07891345326233465	0.07826	0.0838883208807	0.09463	.	.	.	0.019488	0.15519	T	-0.644886	0.00078	T	-0.689716	0.06405	T	0.0224859296631958	0.00963	T	0.252475	0.03851	T	0.09187855	0.21540	0.07249355	0.15646	0.09187855	0.21540	0.07249355	0.15646	-6.274	0.48516	T	.	.	0.087	0.11269	B	.	.	0.586348	0.09550	6.324	0.81515835373729739	0.13724	0.02242	0.06502	N	AEFBI	0.074102	0.14843	N	-0.952447968329772	0.09637	0.4570143	-1.1980015840912	0.05943	0.2846429	1.22797413150332E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	-6.07	0.01976	0.201000	0.17074	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4644:0.2507:0.1162:0.1687	1.914	0.03093	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3272.33	34	chr1	247738768	.	C	T	3272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=848;ExcessHet=0;FS=2.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.241;SOR=0.766	GT:AD:DP:GQ:PL	0/1:101,119:220:99:3286,0,2601	18	0	1	0
chr1	248473955	248473955	C	T	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.C605T:p.T202M	.	513	995	7	7	0	21	0.0104426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.0159744	0.0033	0.0012	0.0048	0.0028	0.0007	0.0034	0.0048	0.0042	0.0038163	590	154602	rs1770111	0.0040	0.0065	0.0037	0.0042	0.0158	0.0039	0.0038	0.0130	0.0120	0.0015	0.0090	0.0167	0.0099	0.0014	0.0158	0.0031	0.0060	0.0066	0.0029	0.0034	0.0030	0.0028	0.0045	0.0027	0.0026	0.0030	0.0028	0.0014	0	0.0037	0.0116	0.0045	0	0.0263	0.0034	0.0066	0.0028	0.33	0.13131	T	0.278	0.21812	T	0.253	0.31246	B	0.044	0.24394	B	.	.	.	.	1	0.08975	N	0.325	0.10370	N	8.7	0.00113	T	-1.55	0.37566	N	0.061	0.03283	-1.1423	0.01275	T	0.000	0.00075	T	9	0.003765136	0.00070	T	.	.	.	0.017	0.02790	.	.	0.248417906384	0.24464	0.08161976449713292	0.08096	.	.	0.208420783281	0.00746	T	0.007275	0.06695	T	-0.686348	0.00044	T	-0.756334	0.03245	T	0.00104304895295309	0.00010	T	.	.	.	0.023127548	0.01027	0.041032095	0.04570	0.023127548	0.01026	0.041032095	0.04570	-5.433	0.41236	T	.	.	0.083	0.09191	B	.	.	0.258199	0.06370	2.833	0.62706229663304625	0.07031	0.00072	0.00504	N	AEFI	0.023168	0.01255	N	-1.60379288941427	0.01245	0.0541869	-1.68700124543288	0.01196	0.05383138	0.00180660915644204	0.08901	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	-4.21	0.03552	0.113000	0.15333	-20.000000	0.00162	-0.412000	0.05259	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1746:0.2059:0.0:0.6195	4.529	0.11400	982	0.03397	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	0.022170	0.026316	0.029006	0.021739	0.000000	0.071429	0.014815	0.008130	0.05882	2626.42	110	chr1	248473955	.	C	T	2626.42	.	AC=2;AF=0.059;AN=34;DP=1706;ExcessHet=0;FS=0;InbreedingCoeff=0.8788;MLEAC=2;MLEAF=0.059;MQ=47.41;QD=32.42;SOR=1.416	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2652,243,0	16	1	0	2
chr2	10122869	10122869	G	A	exonic	RRM2	.	nonsynonymous SNV	RRM2:NM_001034:exon1:c.G71A:p.G24E,RRM2:NM_001165931:exon1:c.G251A:p.G84E	.	398	1123	1	0	0	1	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.700128392358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190210026	4.84e-06	5.472e-06	4.121e-06	5.57e-06	3.614e-06	2.01e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	0	0	0	3.614e-06	5.012e-05	0	6.57e-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	0.16	0.23721	T	0.163	0.31125	T	0.025	0.19245	B	0.015	0.17295	B	0.884062	0.07254	N	1.051930	1	0.08975	N	1.245	0.31408	L	-4.32	0.97218	D	0.18	0.05810	N	0.17	0.25622	-0.0622	0.80946	T	0.693	0.89418	D	10	0.10631767	0.19695	T	0.700128	0.97545	D	0.283	0.60100	0.196	0.10839	0.336933722576	0.33308	0.2702827300789386	0.26941	1.03228781939	0.75458	0.63330000639	0.57613	T	0.123694	0.44823	T	0.0922227	0.63439	D	-0.105305	0.62983	T	0.137673095442693	0.16072	T	0.861114	0.55479	D	0.06946952	0.15223	0.08627212	0.19977	0.06946952	0.15223	0.08627212	0.19977	-3.454	0.15794	T	.	.	0.123	0.25689	B	.;.;.;.	.;.;.;.	2.572983	0.33343	19.31	0.95585758084004391	0.27299	0.06445	0.12451	N	ALL	0.088127	0.17866	N	-0.800653106897822	0.13294	0.6538555	-0.688636985927849	0.17245	0.9160499	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	1.87	0.24559	0.746000	0.25942	2.738000	0.34441	0.672000	0.70159	0.438000	0.26471	1.000000	0.68203	0.991000	0.66497	0.2632:0.2603:0.4765:0.0	5.807	0.17706	738	0.53389	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1064.33	33	chr2	10122869	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=758;ExcessHet=0;FS=1.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.43;SOR=0.479	GT:AD:DP:GQ:PL	0/1:56,36:92:99:1078,0,1566	18	0	1	0
chr2	20641063	20641063	G	A	exonic	HS1BP3	.	nonsynonymous SNV	HS1BP3:NM_022460:exon3:c.C316T:p.R106W	.	413	1090	19	0	0	19	0.00864029	.	.	.	2815565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0048	0.00339457	0.0062	0.0013	0.0022	0	0.0109	0.0063	0.0121	0.0125	0.0059702	923	154602	rs77551133	0.0064	0.0064	0.0062	0.0065	0.0121	0.0063	0.0062	0.0115	0.0113	0.0009	0.0020	0.0025	2.519e-05	0.0123	0.0052	0.0064	0.0045	0.0121	0.0046	0.0046	0.0043	0.0050	0.0102	0.0044	0.0042	0.0079	0.0071	0.0012	0	0.0022	0.0023	0	0.0153	0	0.0058	0.0047	0.0102	0.054	0.48186	T	0.032	0.70582	D	0.997	0.77913	D	0.765	0.56630	P	0.092385	0.20277	N	0.446588	0.594034	0.30996	N	1.95	0.52479	M	1.02	0.40749	T	-4.21	0.75776	D	0.341	0.38232	-0.7344	0.58740	T	0.122	0.42272	T	10	0.009174973	0.00207	T	.	.	.	0.259	0.57090	.	.	0.705520150151	0.70295	0.5890232378770209	0.58832	0.600032869069	0.55099	0.298230230808	0.10138	T	0.086352	0.37705	T	-0.397794	0.02394	T	-0.332504	0.41190	T	0.0378201190708157	0.03301	T	0.807619	0.45757	T	0.160197	0.35944	0.16618338	0.38405	0.160197	0.35944	0.16618338	0.38404	-10.295	0.75659	D	.	.	0.113	0.40328	B	.;.;.	.;.;.	5.055280	0.84232	28.3	0.99912922628318579	0.98167	0.82479	0.41700	D	AEFDGBI	0.585698	0.58402	D	0.478639783646004	0.65843	4.87388	0.467781191708504	0.65866	4.878311	0.999999785074722	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.65	4.65	0.57626	2.659000	0.46406	6.552000	0.55914	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0949:0.0:0.9051:0.0	11.576	0.50116	850	0.35610	Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.018939	0.05263	4535.83	33	chr2	20641063	.	G	A	4535.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.94;DP=954;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.328;SOR=0.712	GT:AD:DP:GQ:PL	0/1:85,81:166:99:2178,0,2115	17	0	2	0
chr2	20667449	20667460	CCGCGCCGCGCG	-	exonic	GDF7	.	nonframeshift deletion	GDF7:NM_182828:exon1:c.210_221del:p.R74_A77del	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	.	0.2857	.	0.5	.	0.25	0.35	.	0.25	0.0006531	17	26028	rs776133674	0.0095	0.0078	0.0095	0.0096	0.0127	0.0094	0.0093	0.0116	0.0111	0.0016	0.0026	0.0012	0	0.0327	0.0093	0.0097	0.0074	0.0127	0.0068	0.0070	0.0058	0.0078	0.0111	0.0064	0.0063	0.0087	0.0079	0.0016	0	0.0020	0.0006	0	0.0298	0	0.0087	0.0054	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1682.79	14	chr2	20667448	.	CCCGCGCCGCGCG	C	1682.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=488;ExcessHet=0.119;FS=3.628;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.85;ReadPosRankSum=0;SOR=1.215	GT:AD:DP:GQ:PL	0/1:9,19:28:99:771,0,298	17	0	2	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,21:55:99:.:.:104,0,414:.	2	0	17	0
chr2	25131447	25131447	C	T	exonic	EFR3B	.	nonsynonymous SNV	EFR3B:NM_001319099:exon9:c.C824T:p.A275V,EFR3B:NM_014971:exon9:c.C929T:p.A310V	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0534701348615	.	.	0.0005	0	0	0	0	0.0011	0	0.0001	0.0001035	16	154602	rs745862229	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	3.165e-05	5.603e-05	0	0	0.0021	0.0002	0.0004	0.0003	0.0003	0.0005	0.0005	0.0003	0.0007	0.0005	0.0004	0.0004	0.0004	0.0004	0	0	0	0	0	0.0039	0	0.0005	0	0	0.16	0.51853	T	0.016	0.60972	D	0.998	0.73220	D	0.882	0.62632	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.325	0.66631	M	0.5	0.55608	T	-1.46	0.43524	N	0.639	0.66529	-0.5349	0.67356	T	0.277	0.64906	T	10	0.041398555	0.02792	T	0.05347	0.65483	D	0.168	0.42943	.	.	0.154104182512	0.14974	0.7773617165737677	0.77686	.	.	0.821387648582	0.85240	D	0.037434	0.24475	T	-0.14885	0.28491	T	-0.0851465	0.64524	T	0.284198790788651	0.24348	T	0.963804	0.90669	D	0.15353045	0.34795	0.16015314	0.37316	0.15353045	0.34795	0.16015314	0.37315	-10.491	0.83023	D	.	.	0.289	0.59057	B	.;.;.;.;.	.;.;.;.;.	4.627682	0.73545	26.0	0.9989664211792515	0.96971	0.97126	0.72841	D	AEFDBI	0.899969	0.84496	D	0.497265013748089	0.66928	5.014332	0.438541885699087	0.63986	4.643598	0.999999999995223	0.74766	0.635344	0.42169	0	0.627178	0.54094	0	0.654045	0.52621	0	0.620976	0.48614	0	.	.	4.48	4.48	0.53973	7.730000	0.83827	7.577000	0.60860	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0:1.0:0.0:0.0	15.734	0.77592	546	0.72524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	635.33	39	chr2	25131447	.	C	T	635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.488;DP=704;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.6;SOR=0.751	GT:AD:DP:GQ:PL	0/1:30,27:57:99:649,0,748	18	0	1	0
chr2	29045401	29045401	C	T	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321539:exon15:c.C2140T:p.R714C,TOGARAM2:NM_001321538:exon18:c.C2548T:p.R850C,TOGARAM2:NM_199280:exon19:c.C2713T:p.R905C	.	397	1124	1	0	0	1	0.000444642	.	.	.	3346828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.0115804607796	0.0007	.	0.0002	0.0016	0.0002	0	0	9.026e-05	0	0	0.0002199	34	154602	rs149465089	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0001	0.0016	0.0015	0.0020	0.0001	0	0	1.896e-05	0.0002	0.0001	0.0004	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0.0016	0	0.0004	0	0	0	0.0034	0.0003	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.981	0.75168	D	0.000118	0.50451	D	0.088123	0.999953	0.52396	D	.	.	.	2.47	0.14783	T	-6.17	0.90254	D	0.408	0.44857	-1.1085	0.03201	T	0.104	0.38218	T	10	0.045410752	0.03608	T	0.01158	0.29347	T	0.262	0.57482	.	.	0.473458370588	0.46973	0.4836911291375176	0.48289	0.087678245065	0.09892	0.508767843246	0.40050	T	0.047506	0.27744	T	-0.190343	0.22207	T	-0.0529747	0.66819	D	0.147805064472178	0.16927	T	0.827217	0.49094	T	0.4598702	0.64662	0.33133328	0.58994	0.4598702	0.64663	0.33133328	0.58993	-10.019	0.74026	D	.	.	0.215	0.44384	B	.	.	3.958256	0.58038	23.9	0.9991461049642657	0.98309	0.44032	0.27229	N	AEFBI	0.356943	0.44814	N	0.294634706103239	0.55878	3.751768	0.194732669072601	0.49557	3.157521	0.999979991310318	0.50053	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.33	5.33	0.75683	1.940000	0.39851	3.275000	0.37188	0.599000	0.40250	0.271000	0.25055	0.998000	0.33993	0.059000	0.15899	0.0:1.0:0.0:0.0	18.805	0.92000	444	0.79803	TOG domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	34	chr2	29045401	.	C	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.696;SOR=0.614	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1233,0,959	18	0	1	0
chr2	32524930	32524930	A	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon58:c.A11663G:p.D3888G,BIRC6:NM_016252:exon58:c.A11666G:p.D3889G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0265139454112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.20381	T	0.175	0.29945	T	.	.	.	.	.	.	0.000800	0.41772	D	0.239574	0.999977	0.53665	D	.	.	.	-0.77	0.73523	T	-1.16	0.29727	N	0.241	0.27197	-0.7895	0.55759	T	0.226	0.59058	T	10	0.17404339	0.32262	T	0.026514	0.49420	D	0.125	0.34456	0.163	0.06730	0.484031237447	0.48032	0.3476016628028357	0.34674	0.240194655366	0.26565	0.712221026421	0.68916	T	.	.	.	-0.011302	0.50084	T	-0.254011	0.49421	T	0.66651064157486	0.39182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.53701	B	.	.	3.631828	0.51449	23.1	0.98477527525471387	0.41931	0.98679	0.85488	D	AEFBI	0.897778	0.84033	D	0.0107310622356182	0.42343	2.54944	0.218966900557996	0.50900	3.277356	0.999999856935611	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	8.639000	0.90787	11.055000	0.85354	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.551	0.75893	227	0.91186	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	33	chr2	32524930	.	A	G	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.506;DP=685;ExcessHet=0;FS=5.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.97;SOR=0.269	GT:AD:DP:GQ:PL	0/1:24,39:63:99:944,0,572	18	0	1	0
chr2	38959867	38959867	G	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.G1562C:p.S521T,ARHGEF33:NM_001367623:exon16:c.G1562C:p.S521T	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0092	0.00259585	0.0077	0.0037	0.0104	0	0.0029	0.0135	0.0043	0.0035	0.0023286	360	154602	rs201925961	0.0097	0.0093	0.0097	0.0096	0.0127	0.0095	0.0095	0.0104	0.0102	0.0024	0.0096	0.0248	0	0.0068	0.0127	0.0105	0.0101	0.0027	0.0077	0.0077	0.0083	0.0071	0.0110	0.0074	0.0072	0.0104	0.0101	0.0037	0	0.0068	0.0248	0	0.0042	0.0136	0.0110	0.0095	0.0033	0.281	0.15458	T	0.769	0.04492	T	.	.	.	.	.	.	.	.	.	.	0.99891	0.21810	N	0.695	0.17993	N	0.79	0.49068	T	-0.03	0.07444	N	0.065	0.06454	-1.0578	0.12311	T	0.062	0.25887	T	9	0.0036280155	0.00066	T	.	.	.	0.056	0.15993	.	.	0.124217242631	0.12060	0.3194243498274613	0.31855	.	.	0.438303112984	0.30345	T	.	.	.	-0.614037	0.00120	T	-0.643122	0.09443	T	0.00991943828818208	0.00132	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-3.569	0.17410	T	.	.	0.078	0.06896	B	.;.	.;.	2.471970	0.31864	18.87	0.98122794707842576	0.38448	0.81894	0.41209	D	AEFDBCI	0.292932	0.40368	N	-0.252721942049127	0.30994	1.733645	-0.0638757124785495	0.36897	2.153146	0.999977932084475	0.50053	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.12	4.18	0.48473	1.738000	0.37831	6.223000	0.55146	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.24:0.76:0.0	14.663	0.68495	544	0.72685	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014170	0.000000	0.024038	0.008333	0.083333	0.000000	0.029126	0.009091	0.02632	2661.33	34	chr2	38959867	.	G	C	2661.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.445;DP=933;ExcessHet=0;FS=2.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-1.02;SOR=0.752	GT:AD:DP:GQ:PL	0/1:148,118:266:99:2675,0,3607	18	0	1	0
chr2	42444578	42444578	T	C	exonic	KCNG3	.	nonsynonymous SNV	KCNG3:NM_133329:exon2:c.A667G:p.I223V,KCNG3:NM_172344:exon2:c.A634G:p.I212V	.	425	1096	1	0	0	1	0.000455996	0.0005	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0407758002022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.84e-06	5.472e-06	5.493e-06	4.178e-06	6.336e-06	2.01e-06	1.29e-06	2.64e-06	1.69e-06	0	0	0	0	0	0	6.336e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.09319	T	0.528	0.10173	T	0.689	0.48154	P	0.265	0.66185	B	0.001271	0.39594	N	0.212522	0.99282	0.41754	D	0.44	0.12706	N	-5.04	0.98594	D	-0.32	0.12283	N	0.156	0.18784	0.744	0.93720	D	0.903	0.96772	D	10	0.22830549	0.39732	T	0.040776	0.59564	D	0.391	0.70684	0.33	0.31519	0.917485680295	0.91665	0.7248189267334971	0.72425	1.07319002152	0.76879	0.706559419632	0.68094	T	0.349195	0.71708	T	0.0527617	0.58697	T	-0.161988	0.58173	T	0.532516896724701	0.33827	D	0.606339	0.22814	T	0.04282613	0.06567	0.0420939	0.04935	0.04282613	0.06566	0.0420939	0.04935	-3.771	0.20372	T	.	.	0.119	0.24498	B	.;.	.;.	2.197022	0.28021	17.66	0.99185614150044987	0.54819	0.90773	0.52233	D	AEFBI	0.564945	0.57153	D	-0.0503418427186006	0.39587	2.336904	0.0423190033537807	0.41703	2.509832	0.977059780734879	0.29783	0.660377	0.49826	0	0.624306	0.53593	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	5.16	4.0	0.45673	4.041000	0.57051	5.037000	0.46877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0868:0.0:0.9132	9.668	0.39163	642	0.63909	Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1154.33	37	chr2	42444578	.	T	C	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.104;DP=705;ExcessHet=0;FS=3.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.56;ReadPosRankSum=0.483;SOR=1.327	GT:AD:DP:GQ:PL	0/1:21,38:59:99:1168,0,613	18	0	1	0
chr2	43224600	43224600	-	CTGCTG	exonic	ZFP36L2	.	nonframeshift insertion	ZFP36L2:NM_006887:exon2:c.1203_1204insCAGCAG:p.Q401_G402insQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00479233	0.0343	0.0045	0.0227	0	0	0.0310	0.0455	0.0495	0.0019978	52	26028	rs556928050	0.0057	0.0058	0.0053	0.0061	0.0179	0.0056	0.0056	0.0170	0.0167	0.0009	0.0021	0.0025	7.094e-05	0.0057	0.0048	0.0054	0.0061	0.0179	0.0047	0.0047	0.0042	0.0052	0.0205	0.0044	0.0043	0.0173	0.0161	0.0009	0.0088	0.0039	0.0041	0.0002	0.0056	0.0034	0.0063	0.0057	0.0205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1211.29	37	chr2	43224600	.	C	CCTGCTG	1211.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.984;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.53;ReadPosRankSum=0.115;SOR=0.752	GT:AD:DP:GQ:PL	0/1:26,33:59:99:1225,0,985	18	0	1	0
chr2	43675916	43675916	T	A	exonic	C1GALT1C1L	.	nonsynonymous SNV	C1GALT1C1L:NM_001101330:exon1:c.A407T:p.N136I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.412	0.45237	.	.	.	.	.	.	.	0.22816008	0.39713	T	.	.	.	.	.	.	.	.	.	0.5518910618632601	0.55115	.	.	0.249532878399	0.03719	T	0.17616	0.52600	T	.	.	.	.	.	.	.	.	.	0.887611	0.61581	D	0.14513706	0.33283	0.19014652	0.42401	0.14513706	0.33283	0.19014652	0.42400	-8.6	0.65089	D	.	.	0.245	0.47965	B	.	.	2.586626	0.33551	19.37	0.76438180280518553	0.11468	0.81233	0.40680	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999705049663039	0.41986	0.11394	0.02926	0	0.059962	0.00310	0	0.112256	0.03162	0	0.166187	0.04126	0	0.250524	0.32652	2.75	-2.78	0.05512	0.140000	0.15877	-1.225000	0.05976	0.609000	0.47794	0.955000	0.33325	0.000000	0.08366	0.965000	0.52897	0.0:0.3411:0.174:0.4849	4.425	0.10923	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3225.33	203	chr2	43675916	.	T	A	3225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=1318;ExcessHet=0;FS=3.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-1.214;SOR=0.53	GT:AD:DP:GQ:PL	0/1:116,115:231:99:3239,0,3114	18	0	1	0
chr2	43697278	43697278	C	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon7:c.C610T:p.P204S	.	436	994	83	9	0	101	0.0483485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0061	0.0071885	0.0101	0.0016	0.0022	0.0002	0.0024	0.0091	0.0121	0.0336	0.0095988	1484	154602	rs142153423	0.0081	0.0081	0.0071	0.0090	0.0404	0.0080	0.0079	0.0361	0.0345	0.0017	0.0034	0.0092	0.0001	0.0026	0.0404	0.0068	0.0082	0.0340	0.0060	0.0060	0.0060	0.0060	0.0317	0.0057	0.0056	0.0276	0.0260	0.0019	0.0055	0.0049	0.0101	0.0004	0.0019	0.0340	0.0076	0.0071	0.0317	0.321	0.13522	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.000101	0.50451	N	0.136303	0.985952	0.24662	N	0.345	0.11182	N	0.9	0.45248	T	-0.52	0.16187	N	0.044	0.01658	-1.0478	0.15016	T	0.046	0.19559	T	10	0.002683133	0.00041	T	.	.	.	0.043	0.11576	.	.	.	.	0.18599747169315667	0.18517	0.0193558594551	0.01897	0.276209801435	0.06969	T	0.010631	0.09578	T	-0.613942	0.00120	T	-0.629594	0.10446	T	0.00276598705785546	0.00029	T	0.741226	0.36032	T	0.061813172	0.12843	0.067769594	0.14065	0.061813172	0.12843	0.067769594	0.14065	-2.68	0.07136	T	.	.	0.066	0.02145	B	.	.	1.530231	0.19634	14.36	0.99065392673448482	0.51598	0.84387	0.43469	D	AEFI	0.242514	0.36396	N	-0.389099018397365	0.25855	1.406726	-0.214605360810121	0.31010	1.751141	0.00840704204609572	0.11670	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.01	3.08	0.34576	1.804000	0.38510	1.378000	0.26011	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.934000	0.47231	0.0:0.7827:0.1403:0.077	9.832	0.40114	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.015152	0.023098	0.017544	0.050000	0.025862	0.018293	0.049242	0.07895	2159.79	35	chr2	43697278	.	C	T	2159.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.17;DP=759;ExcessHet=0.3672;FS=1.086;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.662;SOR=0.71	GT:AD:DP:GQ:PL	0/1:45,19:64:99:515,0,1156	16	0	3	0
chr2	55025668	55025668	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.A1813G:p.K605E,RTN4:NM_001321860:exon3:c.A1813G:p.K605E,RTN4:NM_001321861:exon3:c.A1813G:p.K605E,RTN4:NM_001321862:exon3:c.A1813G:p.K605E,RTN4:NM_001321863:exon3:c.A1813G:p.K605E,RTN4:NM_020532:exon3:c.A2431G:p.K811E,RTN4:NM_207521:exon3:c.A1813G:p.K605E,RTN4:NM_001321904:exon4:c.A1813G:p.K605E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00684201210084	.	.	8.271e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs750533154	4.105e-06	4.104e-06	2.723e-06	5.502e-06	0.0002	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	2.52e-05	0	0.0002	2.698e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.07	0.43721	T	0.952	0.54136	P	0.452	0.46163	P	0.012651	0.29101	N	0.241247	0.539053	0.32039	D	2.565	0.75005	M	1.77	0.26152	T	-1.09	0.29114	N	0.093	0.08786	-1.0502	0.14341	T	0.066	0.27260	T	10	0.10158855	0.18570	T	0.006842	0.18093	T	0.043	0.11576	0.207	0.12356	0.288352970974	0.28455	0.2596687052663438	0.25880	0.0358732820116	0.03783	0.28581058979	0.08316	T	0.203948	0.56257	T	-0.170728	0.25123	T	-0.483016	0.24127	T	0.575286746025085	0.35438	D	0.615039	0.23774	T	0.21724649	0.44204	0.18256006	0.41191	0.21724649	0.44204	0.18256006	0.41190	-3.183	0.12274	T	.	.	0.074	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.785963	0.22706	15.73	0.99475370405568742	0.66579	0.49238	0.28388	N	AEFBCI	0.114273	0.22514	N	-0.0917061216936896	0.37754	2.201205	-0.200668375321246	0.31512	1.784118	0.999667079545915	0.41534	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	1.56	0.22423	0.275000	0.18461	0.154000	0.15327	0.665000	0.62972	0.748000	0.29111	0.185000	0.23452	0.940000	0.48062	0.0:0.1363:0.1313:0.7324	6.450	0.21100	625	0.65529	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1918.33	34	chr2	55025668	.	T	C	1918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.444;DP=835;ExcessHet=0;FS=3.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.043;SOR=0.692	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1932,0,1830	18	0	1	0
chr2	61083247	61083247	C	T	exonic	KIAA1841	.	nonsynonymous SNV	KIAA1841:NM_001330432:exon7:c.C385T:p.R129C,KIAA1841:NM_001129993:exon8:c.C823T:p.R275C,KIAA1841:NM_001330433:exon8:c.C823T:p.R275C,KIAA1841:NM_001330434:exon8:c.C823T:p.R275C,KIAA1841:NM_001330435:exon8:c.C823T:p.R275C,KIAA1841:NM_001330436:exon8:c.C823T:p.R275C,KIAA1841:NM_032506:exon8:c.C823T:p.R275C	.	439	1069	12	2	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0435212788134	0.0008	0.00159744	0.0011	9.808e-05	0.0004	0.0001	0	0.0003	0.0022	0.0059	0.0008861	137	154602	rs140620846	0.0008	0.0008	0.0006	0.0010	0.0067	0.0008	0.0007	0.0062	0.0060	0.0003	0.0002	0	0.0008	1.872e-05	0.0031	0.0004	0.0007	0.0067	0.0008	0.0008	0.0007	0.0008	0.0085	0.0007	0.0006	0.0064	0.0057	0.0003	0	0.0005	0	0.0004	0	0	0.0008	0.0009	0.0085	0.0	0.91255	D	0.001	0.83351	D	0.403	0.90584	B	0.08	0.67658	B	0.000006	0.62929	D	0.109289	0.99999	0.58761	D	2.005	0.54552	M	.	.	.	-7.0	0.93697	D	0.517	0.55453	-0.5897	0.65233	T	0.310	0.68085	T	9	0.016627222	0.00351	T	0.043521	0.61028	D	0.427	0.73445	.	.	0.620138186352	0.61706	0.6383828255590289	0.63772	0.118335029965	0.13327	0.531667590141	0.43270	T	0.35427	0.72144	T	-0.313216	0.07467	T	-0.219661	0.52770	T	0.129381190369104	0.15324	T	0.873813	0.58316	D	0.7603953	0.81476	0.47367552	0.69493	0.7603953	0.81478	0.47367552	0.69493	-9.549	0.71163	D	.	.	0.112	0.25364	B	.;.;.;.;.	.;.;.;.;.	3.976757	0.58430	24.0	0.97388331696376018	0.33711	0.90578	0.51870	D	AEFBI	0.246862	0.36755	N	0.00858502247680668	0.42246	2.54175	-0.0406254711371744	0.37899	2.225322	1.74965175825222E-5	0.02871	0.744818	0.98587	0	0.588066	0.40923	0	0.658983	0.55881	0	0.76194	0.99817	0	.	.	5.48	-0.618	0.10995	3.943000	0.56332	3.279000	0.37216	-0.173000	0.11020	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.1151:0.5612:0.0:0.3237	6.016	0.18832	383	0.83590	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2999.83	33	chr2	61083247	.	C	T	2999.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.33;DP=830;ExcessHet=0.119;FS=1.552;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.427;SOR=0.816	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1335,0,1400	17	0	2	0
chr2	74371596	74371596	T	C	exonic	DCTN1	.	nonsynonymous SNV	DCTN1:NM_001135041:exon3:c.A184G:p.I62V,DCTN1:NM_023019:exon3:c.A184G:p.I62V,DCTN1:NM_001135040:exon5:c.A526G:p.I176V,DCTN1:NM_001190836:exon5:c.A475G:p.I159V,DCTN1:NM_001190837:exon7:c.A565G:p.I189V,DCTN1:NM_001378992:exon7:c.A517G:p.I173V,DCTN1:NM_001378991:exon8:c.A535G:p.I179V,DCTN1:NM_004082:exon8:c.A586G:p.I196V	Neuropathy, distal hereditary motor, type VIIB, Autosomal dominant;Perry syndrome, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	.	288008	Neuronopathy,_distal_hereditary_motor,_type_7B|Perry_syndrome|Amyotrophic_lateral_sclerosis_type_1|not_specified|Amyotrophic_lateral_sclerosis|not_provided	MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589|MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	.	0.0055	0.00319489	0.0080	0.0009	0.0116	0	0.0075	0.0136	0.0068	0.0009	0.0036157	559	154602	rs55862001	0.0063	0.0063	0.0064	0.0062	0.0070	0.0062	0.0062	0.0069	0.0068	0.0007	0.0045	0.0202	0	0.0014	0.0039	0.0070	0.0077	0.0009	0.0045	0.0045	0.0052	0.0037	0.0067	0.0042	0.0041	0.0062	0.0060	0.0012	0.0033	0.0033	0.0231	0	0.0027	0.0034	0.0067	0.0038	0.0010	0.535	0.11807	T	0.814	0.05602	T	0.001	0.09854	B	0.002	0.10090	B	0.000485	0.43931	D	0.000000	0.999431	0.51308	D	0.755	0.19153	N	-0.55	0.76948	T	0.2	0.05706	N	0.322	0.37613	-0.8590	0.51334	T	0.163	0.49881	T	10	0.0054398477	0.00120	T	.	.	.	0.107	0.30369	.	.	0.753781183419	0.75155	0.1600682663228829	0.15927	0.485480497904	0.47424	0.778232097626	0.78662	T	0.064877	0.32546	T	-0.372237	0.03483	T	-0.304719	0.44223	T	0.00745671852347459	0.00086	T	0.80082	0.44648	T	0.023740001	0.01140	0.038885724	0.03856	0.028419433	0.02176	0.038055927	0.03590	-2.372	0.05295	T	.	.	0.082	0.23779	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.139822	0.42460	21.5	0.97383848228949832	0.33686	0.92591	0.56072	D	AEFBI	0.484785	0.52466	N	-0.190991738788671	0.33509	1.901844	0.0435966184303226	0.41763	2.514535	0.999331724331915	0.39185	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	4.500000	0.60108	6.124000	0.53825	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0819:0.0:0.9181	9.466	0.37978	546	0.72524	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005612	0.021277	0.005450	0.002941	0.000000	0.000000	0.003165	0.003817	0.02632	1439.33	34	chr2	74371596	.	T	C	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.82;DP=753;ExcessHet=0;FS=2.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.68;SOR=0.915	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1453,0,1871	18	0	1	0
chr2	74607100	74607100	C	G	exonic	M1AP	.	nonsynonymous SNV	M1AP:NM_001281295:exon4:c.G550C:p.E184Q,M1AP:NM_001281296:exon4:c.G550C:p.E184Q,M1AP:NM_001321739:exon4:c.G550C:p.E184Q,M1AP:NM_138804:exon4:c.G550C:p.E184Q	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00993059038475	7.7e-05	0.000199681	0.0007	0	8.639e-05	0	0	0.0002	0.0044	0.0042	0.0005757	89	154602	rs150883431	0.0003	0.0003	0.0002	0.0005	0.0035	0.0003	0.0003	0.0031	0.0030	2.987e-05	0.0002	0.0015	0	0	0.0010	0.0001	0.0005	0.0035	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	6.535e-05	0.0029	0	0	0	0.0001	0	0.0019	0.241	0.17643	T	0.294	0.20877	T	0.074	0.24142	B	0.047	0.24832	B	0.006753	0.31824	N	0.342331	0.906761	0.36307	D	1.54	0.38927	L	0.86	0.46777	T	-0.75	0.21003	N	0.092	0.07262	-0.9681	0.37592	T	0.111	0.39770	T	10	0.0033352673	0.00058	T	0.009931	0.25856	T	0.018	0.03083	.	.	0.0297737177859	0.01360	0.21449906498807306	0.21365	0.145960491873	0.16482	0.443019837141	0.30990	T	0.039984	0.25376	T	-0.545003	0.00313	T	-0.558057	0.16560	T	0.0245947352141074	0.01220	T	0.634137	0.24845	T	0.1607327	0.36035	0.078706495	0.17653	0.1607327	0.36035	0.078706495	0.17653	-3.903	0.22348	T	.	.	0.087	0.13503	B	.;.;.	.;.;.	1.545392	0.19810	14.45	0.95183297831523217	0.26355	0.20704	0.21138	N	AEFDBI	0.183945	0.31127	N	-0.49273990470945	0.22318	1.190885	-0.437810960284965	0.23896	1.305634	0.989181179697631	0.31747	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.76	4.88	0.63131	1.263000	0.32606	3.269000	0.37146	0.544000	0.25403	0.012000	0.18695	0.151000	0.23179	0.632000	0.32210	0.0:0.8383:0.1617:0.0	12.978	0.57951	130	0.94779	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2359.33	36	chr2	74607100	.	C	G	2359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.127;DP=797;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.041;SOR=0.756	GT:AD:DP:GQ:PL	0/1:85,96:181:99:2373,0,2053	18	0	1	0
chr2	75687859	75687859	A	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon11:c.T1151A:p.I384N,GCFC2:NM_003203:exon11:c.T1658A:p.I553N	.	433	1059	29	1	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0065	0.00439297	0.0090	0.0011	0.0022	0	0.0210	0.0110	0.0110	0.0106	0.0085575	1323	154602	rs41286003	0.0089	0.0089	0.0086	0.0092	0.0221	0.0088	0.0087	0.0190	0.0178	0.0008	0.0033	0.0459	5.053e-05	0.0196	0.0221	0.0080	0.0095	0.0119	0.0080	0.0080	0.0072	0.0088	0.0118	0.0076	0.0075	0.0093	0.0085	0.0013	0.0011	0.0046	0.0556	0	0.0212	0.0136	0.0088	0.0071	0.0118	0.0	0.91255	D	0.001	0.83351	D	0.963	0.55692	D	0.837	0.59984	P	0.247990	0.15570	N	0.649855	0.707577	0.81001	D	1.76	0.45711	L	0.43	0.56772	T	-5.17	0.84105	D	0.674	0.68169	-1.0069	0.27881	T	0.111	0.39912	T	10	0.010547429	0.00234	T	.	.	.	0.444	0.74657	.	.	0.804346720858	0.80252	0.6978294067936864	0.69723	0.557126499698	0.52338	0.35052549839	0.17998	T	0.282542	0.65529	T	-0.324844	0.06509	T	-0.229997	0.51771	T	0.0485459195345418	0.05241	T	0.884012	0.60664	D	0.7522641	0.81000	0.8183412	0.89433	0.7522641	0.81002	0.8183412	0.89433	-11.018	0.79757	D	.	.	0.500	0.64970	A	.;.	.;.	3.175650	0.43089	21.7	0.9913156376359108	0.53275	0.94369	0.60946	D	AEFBI	0.322456	0.42494	N	0.115307806236015	0.47176	2.947072	0.153225531536175	0.47312	2.963415	0.98693433088627	0.31153	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	4.136000	0.57766	6.698000	0.56362	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	14.230	0.65432	951	0.11083	GC-rich sequence DNA-binding factor-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	0.016616	0.010101	0.009511	0.032164	0.050000	0.000000	0.009146	0.022727	0.02632	1332.33	34	chr2	75687859	.	A	T	1332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.38;DP=741;ExcessHet=0;FS=7.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.701;SOR=1.27	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1346,0,1603	18	0	1	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,25:341:79:0|1:94876631_G_T:79,0,13193:94876631	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:318,32:350:99:.:.:387,0,13133:.	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:317,34:351:99:.:.:474,0,13037:.	2	0	17	0
chr2	95150037	95150037	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G667A:p.D223N,ZNF514:NM_032788:exon5:c.G448A:p.D150N	.	431	1086	5	0	0	5	0.00229674	.	.	.	2453410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0012703278923	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765126553	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	4.496e-06	3.311e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.559	0.09144	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	0.999995	0.08975	N	0.75	0.19020	N	3.5	0.05014	T	-0.74	0.20791	N	0.09	0.06854	-0.9614	0.38916	T	0.011	0.04088	T	9	0.048018277	0.04197	T	0.00127	0.01733	T	0.046	0.12618	0.545	0.65873	0.208000267992	0.20380	0.02177175760786996	0.02129	0.0391618071246	0.04173	0.244533360004	0.03214	T	0.025123	0.18850	T	-0.537408	0.00347	T	-0.807072	0.01732	T	0.0225517343402341	0.00971	T	0.174883	0.01686	T	0.01988252	0.00529	0.029019812	0.01196	0.01988252	0.00529	0.029019812	0.01196	-3.21	0.12603	T	.	.	0.095	0.14706	B	.;.	.;.	0.553274	0.09217	6.001	0.52325745692660997	0.04727	0.00069	0.00489	N	AEFBCI	0.035640	0.04621	N	-1.08797316189328	0.06864	0.317186	-1.09437063746344	0.07810	0.3814027	0.0139203205759582	0.12527	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.18	2.3	0.27735	-0.322000	0.08049	-1.095000	0.06346	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	0.0:0.7452:0.0:0.2548	5.482	0.16020	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003067	0.000000	0.02632	2499.33	33	chr2	95150037	.	C	T	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=868;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.52;SOR=0.477	GT:AD:DP:GQ:PL	0/1:95,85:180:99:2513,0,2618	18	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:172,41:213:99:755,0,4686	0	0	19	0
chr2	95855402	95855402	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.C5957T:p.A1986V	.	430	1069	23	0	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000631896702872	.	.	0.0002	0.0001	8.678e-05	0	0	0.0003	0.0011	0.0002	3.84e-05	1	26028	rs76606859	2.053e-06	8.893e-06	4.086e-06	0	.	5.5e-07	1.5e-07	.	.	0	0	0	0	5.639e-05	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.57	0.13552	T	-1.77	0.41809	N	0.165	0.17416	-0.9544	0.40203	T	0.019	0.07846	T	7	0.08118898	0.13264	T	6.32E-4	0.00319	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.010211084344198413	0.00983	.	.	.	.	.	0.003816	0.03222	T	-0.347539	0.04883	T	-0.736992	0.04019	T	0.100647859275341	0.12429	T	0.462454	0.13421	T	0.03511514	0.04071	0.05560817	0.09786	0.03511514	0.04071	0.05560817	0.09786	-6.012	0.46381	T	.	.	0.260	0.49451	B	.	.	1.035434	0.14157	10.73	0.98637519765940418	0.44001	0.07756	0.13755	N	AEFI	0.042056	0.06477	N	-0.800839877268318	0.13288	0.6535874	-0.97423012277431	0.10366	0.5216334	2.64000259135655E-4	0.06244	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.04	0.02742	1.747000	0.37925	-0.122000	0.11711	0.318000	0.19305	0.993000	0.37899	0.000000	0.08366	0.055000	0.15596	0.2997:0.0:0.4912:0.2092	5.100	0.14091	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	.	.	.	.	.	.	.	.	0.02632	75.33	307	chr2	95855402	.	G	A	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.973;DP=4748;ExcessHet=0;FS=5.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.72;MQRankSum=-6.456;QD=0.31;ReadPosRankSum=-1.937;SOR=1.249	GT:AD:DP:GQ:PL	0/1:216,25:241:89:89,0,6185	18	0	1	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:211,92:303:99:1793,0,6104	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:209,64:273:99:1613,0,6192	0	0	19	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:235,34:269:99:307,0,9478	6	0	13	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:213,52:265:99:1217,0,6414	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:80,14:94:99:284,0,3265	6	0	13	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,32:147:99:0|1:95859969_A_AT:991,0,4705:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,32:147:99:0|1:95859969_A_AT:991,0,4705:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,30:146:99:0|1:95859969_A_AT:911,0,4733:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:111,32:143:99:1011,0,2993	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,27:131:99:0|1:95860002_T_A:821,0,4214:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,27:130:99:0|1:95860002_T_A:824,0,4192:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,25:121:99:0|1:95860020_G_A:761,0,3928:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,23:118:99:0|1:95860020_G_A:680,0,3900:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:82,15:97:99:384,0,2264	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,31:146:99:0|1:95927222_G_GAT:956,0,4733:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,42:165:99:0|1:95927222_G_GAT:1393,0,5036:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,45:173:99:0|1:95927222_G_GAT:1504,0,5239:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,65:212:99:0|1:95927222_G_GAT:2287,0,5977:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,84:248:99:0|1:95927222_G_GAT:2973,0,6606:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,89:262:99:0|1:95927222_G_GAT:3075,0,6846:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,52:197:99:0|1:95929092_T_C:1669,0,5789:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,63:222:99:0|1:95929092_T_C:2167,0,6465:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,87:254:99:0|1:95929092_T_C:3150,0,6750:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,92:265:99:0|1:95929092_T_C:3342,0,6987:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,92:270:99:0|1:95929092_T_C:3323,0,7136:95929092	0	0	19	0
chr2	96699651	96699651	T	C	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon43:c.T4712C:p.V1571A	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	.	.	.	.	.	.	0.327729	0.14166	U	0.571232	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.37197	-0.3890	0.72374	T	0.255	0.62507	T	8	0.27155256	0.44694	T	.	.	.	.	.	0.547	0.66156	0.115124310173	0.11017	0.7516688496969532	0.75113	.	.	0.424351990223	0.28435	T	.	.	.	0.026083	0.55199	T	-0.20031	0.54618	T	0.395594328641891	0.28776	T	0.963304	0.86380	D	0.073254876	0.16357	0.21336676	0.45844	0.073254876	0.16356	0.21336676	0.45843	-6.132	0.47371	T	.	.	0.265	0.56091	B	.;.;.;.	.;.;.;.	3.103382	0.41828	21.4	0.80896415409605515	0.13421	0.35694	0.25361	N	AEFBI	.	.	.	0.0956850067433394	0.46261	2.869229	0.0287700086971241	0.41058	2.460319	0.998427502813618	0.36942	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.050693	0.00103	0	0.811976	0.48258	5.29	4.14	0.47821	0.861000	0.27540	5.109000	0.47498	0.665000	0.62972	0.026000	0.20160	0.999000	0.35428	0.994000	0.71098	0.0:0.1678:0.0:0.8322	7.973	0.29302	187	0.92701	C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1253.33	35	chr2	96699651	.	T	C	1253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.04;DP=757;ExcessHet=0;FS=2.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.366;SOR=0.976	GT:AD:DP:GQ:PL	0/1:76,53:129:99:1267,0,2118	18	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,16:158:99:0|1:97185336_GC_G:244,0,5906:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:97185336_GC_G:238,0,5990:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:97185336_GC_G:238,0,5990:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,17:167:99:0|1:97185336_GC_G:262,0,6203:97185336	2	0	17	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,13:152:99:0|1:97243955_G_A:127,0,5757:97243955	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,19:160:99:0|1:97243981_C_T:373,0,5863:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,19:160:99:0|1:97243981_C_T:373,0,5863:97243981	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,65:257:99:0|1:97513219_T_C:2151,0,7866:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,71:270:99:0|1:97513219_T_C:2362,0,8142:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,89:304:99:0|1:97513244_G_T:3088,0,8740:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,94:311:99:0|1:97513244_G_T:3254,0,8809:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,94:311:99:0|1:97513244_G_T:3254,0,8809:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,104:323:99:0|1:97513268_C_T:3708,0,8862:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,105:328:99:0|1:97513268_C_T:3722,0,9007:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,106:329:99:0|1:97513268_C_T:3759,0,9004:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,115:335:99:0|1:97513268_C_T:3987,0,8719:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:106,84:190:99:1801,0,2668	0	0	19	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,73:209:99:.:.:2653,0,5460:.	6	3	9	1
chr2	135985447	135985447	-	GCTGGC	exonic	DARS1	.	nonframeshift insertion	DARS1:NM_001349:exon1:c.21_22insGCCAGC:p.S7_R8insAS	.	421	1097	4	0	0	4	0.00181984	.	.	.	794770	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0005	0	0	0	0	0.0002	0.0023	0.0029	0.0004786	74	154602	rs551090724	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0033	5.974e-05	6.708e-05	0	0	7.514e-05	0.0012	9.353e-05	0.0004	0.0038	0.0003	0.0003	0.0003	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	2.405e-05	0	0.0003	0.0003	0	0	0	0.0002	0.0009	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1248.29	40	chr2	135985447	.	G	GGCTGGC	1248.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.453;DP=829;ExcessHet=0;FS=8.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.86;SOR=0.552	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1262,0,2401	18	0	1	0
chr2	140769243	140769243	A	T	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon35:c.T5728A:p.S1910T	.	434	1082	6	0	0	6	0.00276498	.	.	.	2446945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.017206703545	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	8.41e-05	13	154602	rs200076285	7.533e-05	7.524e-05	6.133e-05	8.948e-05	0.0004	6.389e-05	5.945e-05	0.0003	0.0002	0	0	0.0018	0	0	0.0002	9.903e-06	0.0003	0.0004	6.577e-05	6.562e-05	6.436e-05	6.725e-05	0.0006	3.52e-05	2.619e-05	0.0002	9.003e-05	0	0	0	0.0017	0	0	0	1.473e-05	0	0.0006	0.214	0.19361	T	0.324	0.18903	T	0.044	0.21686	B	0.022	0.19653	B	0.004178	0.34034	N	0.200305	0.996478	0.23003	N	1.88	0.49984	L	-2.84	0.91305	D	-1.85	0.43334	N	0.455	0.49237	-0.3339	0.74020	T	0.608	0.86098	D	10	0.06331578	0.08231	T	0.017207	0.38815	T	0.222	0.51872	0.385	0.40460	0.388112687808	0.38423	0.5784417953319664	0.57773	0.228694491547	0.25423	0.576929986477	0.49652	T	0.226447	0.59147	T	-0.219794	0.18022	T	-0.253172	0.49503	T	0.0552499133299907	0.06400	T	0.79912	0.44420	T	0.13057686	0.30463	0.13066056	0.31392	0.13057686	0.30463	0.13066056	0.31391	-5.201	0.38952	T	.	.	0.089	0.11941	B	.	.	2.252754	0.28777	17.91	0.9731116892113777	0.33327	0.89094	0.49356	D	AEFI	0.322140	0.42472	N	-0.101347184413441	0.37333	2.170578	0.0496621307812151	0.42056	2.537123	6.61732739569857E-4	0.07575	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.59	4.42	0.52775	3.922000	0.56173	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8556:0.1444:0.0:0.0	12.528	0.55442	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2375.83	33	chr2	140769243	.	A	T	2375.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.764;DP=825;ExcessHet=0.119;FS=2.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.97;SOR=0.751	GT:AD:DP:GQ:PL	0/1:61,37:98:99:861,0,1628	17	0	2	0
chr2	151644012	151644012	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon57:c.G7762A:p.E2588K,NEB:NM_001164508:exon57:c.G7762A:p.E2588K,NEB:NM_001271208:exon57:c.G7762A:p.E2588K,NEB:NM_004543:exon57:c.G7762A:p.E2588K	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1489526	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0342531894103	.	.	8.28e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs756738995	1.368e-05	1.368e-05	5.445e-06	2.2e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.349e-05	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.40319	T	0.155	0.46862	T	0.996	0.68779	D	0.966	0.71341	D	0.000087	0.51296	D	0.135373	0.621288	0.33104	D	2.265	0.64440	M	1.4	0.33630	T	-1.35	0.33598	N	0.655	0.75192	-0.9890	0.32853	T	0.181	0.52828	T	10	0.6425734	0.69142	D	0.034253	0.55552	D	0.145	0.38592	0.419	0.46036	0.625697750477	0.62264	0.3299478989436322	0.32907	0.343060986304	0.36237	0.834486484528	0.87251	D	0.031033	0.34577	T	-0.0663955	0.41903	T	-0.333149	0.41118	T	0.83282894735296	0.48751	D	0.938006	0.84427	D	0.25442928	0.48471	0.20080738	0.44030	0.25442928	0.48471	0.20080738	0.44029	-10.779	0.78466	D	.	.	0.38	0.58428	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.939433	0.57636	23.9	0.99892568489608768	0.96666	0.98274	0.81158	D	AEFBI	0.582233	0.58193	D	0.638435063578069	0.75622	6.33866	0.665017706891758	0.79735	7.145255	0.991630786627596	0.32556	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	2.979000	0.49004	.	.	0.599000	0.40250	0.959000	0.33545	1.000000	0.68203	0.644000	0.32530	0.0:1.0:0.0:0.0	19.876	0.96868	886	0.28090	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4698.33	36	chr2	151644012	.	C	T	4698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.43;DP=1052;ExcessHet=0;FS=3.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.82;MQRankSum=0.927;QD=12.7;ReadPosRankSum=0.004;SOR=0.882	GT:AD:DP:GQ:PL	0/1:200,170:370:99:4712,0,5227	18	0	1	0
chr2	151675340	151675340	G	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon35:c.C3826A:p.P1276T,NEB:NM_001164508:exon35:c.C3826A:p.P1276T,NEB:NM_001271208:exon35:c.C3826A:p.P1276T,NEB:NM_004543:exon35:c.C3826A:p.P1276T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	284423	Nemaline_myopathy_2|not_provided	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.129	.	0.0035	0.00419329	0.0021	0.0159	0.0043	0	0	8.847e-05	0.0026	0.0002	0.0009573	148	154602	rs34234609	0.0004	0.0004	0.0005	0.0004	0.0115	0.0004	0.0004	0.0105	0.0102	0.0115	0.0017	0	0	1.903e-05	0.0021	8.628e-05	0.0011	9.655e-05	0.0031	0.0031	0.0034	0.0027	0.0100	0.0028	0.0028	0.0092	0.0089	0.0100	0	0.0024	0	0	9.43e-05	0	4.41e-05	0.0061	0	0.006	0.61437	D	0.111	0.37173	T	0.006	0.13644	B	0.008	0.13708	B	0.000234	0.47286	D	0.187235	0.98816	0.40715	D	1.4	0.35362	L	3.43	0.05507	T	-3.07	0.65512	D	0.567	0.59648	-1.0607	0.11582	T	0.011	0.03903	T	10	0.010675013	0.00237	T	.	.	.	0.129	0.35316	.	.	0.345405024496	0.34151	0.2459255158347204	0.24506	0.0710384528649	0.07961	0.452746778727	0.32319	T	0.096207	0.79748	T	-0.474564	0.00796	T	-0.447916	0.27928	T	0.0392625124445558	0.03557	T	0.862114	0.61048	D	0.27271038	0.50340	0.20423855	0.44538	0.27271038	0.50340	0.20423855	0.44537	-5.408	0.40996	T	.	.	0.077	0.06571	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.293458	0.29342	18.09	0.9968200150175619	0.79307	0.93037	0.57167	D	AEFBI	0.478120	0.52082	N	-0.14743251378333	0.35344	2.028917	0.0121332382143204	0.40278	2.401168	0.998962424580636	0.38084	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.47	4.6	0.56512	2.349000	0.43710	.	.	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0833:0.0:0.9167:0.0	12.054	0.52819	859	0.33891	.;.;.;.;.;.;.	.	.	.	.	.	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	0.008569	0.000000	0.014946	0.014706	0.000000	0.008621	0.000000	0.000000	0.02632	915.33	33	chr2	151675340	.	G	T	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.202;DP=788;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.068;SOR=0.817	GT:AD:DP:GQ:PL	0/1:65,41:106:99:929,0,1588	18	0	1	0
chr2	166286602	166286602	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon11:c.G1336A:p.E446K,SCN9A:NM_002977:exon11:c.G1336A:p.E446K	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	2	1516	4	0	0	4	0.00131752	.	.	.	794852	not_provided|Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.427	0.0292474244326	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175228324	6.396e-06	6.84e-06	8.436e-06	4.311e-06	0.0013	3.01e-06	2.18e-06	0.0006	0.0004	0	0	0	0	0	0.0013	1.835e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25457	T	0.333	0.18505	T	0.061	0.23190	B	0.028	0.21332	B	0.600290	0.10965	N	0.811985	0.938463	0.37226	D	0.55	0.14455	N	-3.88	0.96015	D	-0.71	0.20145	N	0.564	0.59393	0.304	0.87623	D	0.805	0.93393	D	10	0.45330295	0.58834	T	0.029247	0.51792	D	0.427	0.73445	.	.	0.835456322876	0.83388	0.33017419835296774	0.32930	0.166143637461	0.18748	0.602673411369	0.53282	T	0.238066	0.60590	T	0.177273	0.71792	D	0.0168635	0.71427	D	0.657298624515533	0.38777	D	0.90391	0.66280	D	0.18645407	0.40054	0.14282149	0.33965	0.18645407	0.40054	0.14282149	0.33964	-7.001	0.54223	T	.	.	0.108	0.30423	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.980757	0.39761	21.0	0.99162492743998454	0.54127	0.99357	0.94965	D	AEFDBIJ	0.866352	0.78574	D	0.108227117660622	0.46846	2.918841	0.282885769176482	0.54541	3.618677	0.930365595070193	0.27005	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.357000	0.78710	5.989000	0.52298	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.859000	0.40722	0.0:1.0:0.0:0.0	19.851	0.96739	563	0.71062	.;.;.;.;.;.;.	.	.	.	.	.	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	0.001512	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	612.33	33	chr2	166286602	.	C	T	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.849;DP=623;ExcessHet=0;FS=4.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.679;SOR=0.122	GT:AD:DP:GQ:PL	0/1:20,21:41:99:626,0,689	18	0	1	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1044.25	38	chr2	169157427	.	A	G	1044.25	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.208;DP=749;ExcessHet=0.3672;FS=165.109;InbreedingCoeff=-0.1726;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.932;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,15:48:99:0|1:169157427_A_G:489,0,1341:169157427	12	0	3	4
chr2	169157428	169157428	-	GGGTGGTG	exonic	LRP2	.	frameshift insertion	LRP2:NM_004525:exon64:c.11961_11962insCACCACCC:p.I3988Hfs*22	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	682.79	51	chr2	169157428	.	T	TGGGTGGTG	682.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.199;DP=919;ExcessHet=0.119;FS=92.682;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=1.58;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,15:48:99:0|1:169157427_A_G:489,0,1341:169157427	17	0	2	0
chr2	169157430	169157437	AATCCTCC	-	exonic	LRP2	.	frameshift deletion	LRP2:NM_004525:exon64:c.11953_11960del:p.G3985Yfs*14	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1061.96	27	chr2	169157429	.	AAATCCTCC	A	1061.96	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.366;DP=654;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3106;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.87;ReadPosRankSum=1.24;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:169157427_A_G:477,0,1489:169157427	7	0	2	10
chr2	169157430	169157430	A	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	384.75	25	chr2	169157430	.	A	*	384.75	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.96;DP=647;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3376;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.25;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:169157427_A_G:477,0,1489:169157427	6	0	2	11
chr2	169157431	169157431	A	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	379.9	25	chr2	169157431	.	A	*	379.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.99;DP=638;ExcessHet=0.8031;FS=208.14;InbreedingCoeff=-0.3712;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.25;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:169157427_A_G:477,0,1489:169157427	5	0	2	12
chr2	169157433	169157433	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	378.84	20	chr2	169157433	.	C	*	378.84	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.256;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3508;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:169157427_A_G:477,0,1489:169157427	3	0	2	14
chr2	169157434	169157434	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	377.35	20	chr2	169157434	.	C	*	377.35	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3298;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.19;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:169157427_A_G:477,0,1489:169157427	4	0	2	13
chr2	169157436	169157436	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	300.54	38	chr2	169157436	.	C	*	300.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.843;DP=777;ExcessHet=0.3672;FS=156.251;InbreedingCoeff=-0.0868;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.92;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:169157427_A_G:477,0,1489:169157427	17	0	2	0
chr2	169157437	169157437	C	0	exonic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	323.07	33	chr2	169157437	.	C	*	323.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.75;DP=671;ExcessHet=0.3672;FS=200.397;InbreedingCoeff=-0.1461;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:169157427_A_G:477,0,1489:169157427	14	0	2	3
chr2	172070913	172070913	T	C	exonic	METAP1D	.	nonsynonymous SNV	METAP1D:NM_001322278:exon6:c.T193C:p.Y65H,METAP1D:NM_001322279:exon6:c.T193C:p.Y65H,METAP1D:NM_199227:exon6:c.T547C:p.Y183H	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.022154152248	0.0004	0.000399361	0.0013	0.0002	0.0003	0	0.0002	0.0015	0	0.0032	0.0011902	184	154602	rs61996337	0.0010	0.0010	0.0009	0.0011	0.0063	0.0009	0.0009	0.0047	0.0041	0.0002	0.0009	0.0029	0	0.0002	0.0063	0.0008	0.0013	0.0032	0.0011	0.0011	0.0010	0.0012	0.0031	0.0010	0.0009	0.0021	0.0019	7.215e-05	0.0154	0.0027	0.0029	0.0002	0	0.0034	0.0011	0.0009	0.0031	0.102	0.30235	T	0.107	0.37730	T	0.003	0.11197	B	0.013	0.16460	B	0.000588	0.43095	D	0.239007	0.935139	0.37111	D	1.285	0.32305	L	-1.28	0.79376	T	-2.58	0.55662	D	0.722	0.72388	-0.5578	0.66488	T	0.336	0.70289	T	10	0.021490395	0.00515	T	0.022154	0.45019	T	0.274	0.59007	.	.	0.650641314552	0.64773	0.7661109053565551	0.76560	0.197340261225	0.22113	0.698041439056	0.66862	T	0.329785	0.70005	T	-0.323718	0.06598	T	-0.242079	0.50596	T	0.0186510405068825	0.00579	T	0.918508	0.70719	D	0.34495115	0.56671	0.23907225	0.49246	0.34495115	0.56671	0.23907225	0.49245	-3.874	0.21913	T	.	.	0.093	0.14201	B	.	.	2.978645	0.39725	21.0	0.9941323607349688	0.63405	0.90686	0.52070	D	AEFCI	0.410807	0.48153	N	-0.0880321578450131	0.37918	2.21295	0.118339771342983	0.45487	2.810997	0.999982482930368	0.51787	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	5.229000	0.65144	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.030	0.71363	792	0.45996	Peptidase M24	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1124.33	33	chr2	172070913	.	T	C	1124.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.47;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-1.737;SOR=0.628	GT:AD:DP:GQ:PL	0/1:72,47:119:99:1138,0,1922	18	0	1	0
chr2	178528662	178528662	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon188:c.G79894C:p.E26632Q,TTN:NM_133432:exon189:c.G80269C:p.E26757Q,TTN:NM_133437:exon189:c.G80470C:p.E26824Q,TTN:NM_133378:exon309:c.G99385C:p.E33129Q,TTN:NM_001256850:exon310:c.G102166C:p.E34056Q,TTN:NM_001267550:exon360:c.G107089C:p.E35697Q	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	1513	9	0	0	9	0.0029654	.	.	.	189407	Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_provided|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.070	0.098293764584	0.0002	0.000199681	0.0005	0	9.379e-05	0	0	0.0002	0.0011	0.0027	0.0004075	63	154602	rs199531140	0.0002	0.0002	9.806e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	8.97e-05	3.83e-05	0	0	0.0014	4.409e-05	0.0002	0.0019	0.0001	0.0001	8.997e-05	0.0002	0.0015	9.144e-05	7.7e-05	0.0007	0.0005	2.407e-05	0	6.533e-05	0.0003	0	0	0.0068	0.0001	0.0005	0.0015	0.186	0.23007	T	.	.	.	0.22	0.30288	B	0.036	0.22909	B	.	.	.	.	0.992469	0.24505	N	2.175	0.60977	M	-0.06	0.63568	T	-1.73	0.41046	N	0.329	0.54234	-0.7236	0.59284	T	0.253	0.62337	T	9	0.011174649	0.00245	T	0.098294	0.76918	D	0.070	0.20419	.	.	0.202086224978	0.19791	.	.	0.0905715805652	0.10218	0.328484535217	0.14705	T	.	.	.	-0.440145	0.01291	T	-0.411181	0.32088	T	0.0264453348872487	0.01466	T	0.90091	0.68959	D	.	.	.	.	.	.	.	.	-4.0	0.23804	T	.	.	0.173	0.37988	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.202176	0.28086	17.68	0.8347100170993379	0.14744	0.92320	0.55440	D	AEFGBI	0.675111	0.64060	D	0.0492952514518216	0.44110	2.691078	0.157815701923684	0.47559	2.984203	0.999998093390914	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.56	4.68	0.58319	2.667000	0.46473	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9285:0.0:0.0715	14.319	0.66027	350	0.85473	.;.;.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2566.33	34	chr2	178528662	.	C	G	2566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.123;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.27;SOR=0.666	GT:AD:DP:GQ:PL	0/1:82,96:178:99:2580,0,2136	18	0	1	0
chr2	178584459	178584459	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C	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	1470	49	2	0	53	0.017708	.	.	.	56381	not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.360	.	0.0019	0.0129792	0.0088	0.0002	0.0022	0.0192	0.0006	0.0036	0.0089	0.0377	0.0079624	1231	154602	rs72646861	0.0045	0.0045	0.0034	0.0055	0.0352	0.0044	0.0043	0.0342	0.0338	0.0006	0.0017	0.0198	0.0151	0.0002	0.0161	0.0016	0.0064	0.0352	0.0035	0.0035	0.0030	0.0041	0.0342	0.0033	0.0032	0.0299	0.0283	0.0005	0.0044	0.0014	0.0185	0.0199	0.0005	0.0068	0.0020	0.0057	0.0342	0.053	0.78490	T	.	.	.	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	1	0.81001	D	2.68	0.78455	M	0.52	0.55266	T	-6.03	0.89722	D	0.496	0.81360	-0.4509	0.70370	T	0.239	0.60726	T	9	0.006336957	0.00143	T	.	.	.	0.360	0.68052	.	.	0.612662979051	0.60954	.	.	0.517476731111	0.49612	0.771674871445	0.77675	T	.	.	.	-0.33593	0.05674	T	-0.228856	0.51882	T	0.048045884679476	0.05151	T	0.945105	0.79487	D	.	.	.	.	.	.	.	.	-8.361	0.64785	D	.	.	0.366	0.57597	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.081587	0.60724	24.3	0.89618393577052835	0.18952	0.95943	0.66827	D	AEFDBI	0.897210	0.83913	D	0.849151916285406	0.89058	9.818826	0.840293287160525	0.92435	11.42541	0.999721983117602	0.42220	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.148000	0.64701	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.665	0.99682	416	0.81733	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014602	0.005051	0.010870	0.029240	0.050000	0.008621	0.009146	0.022727	0.02632	2330.33	35	chr2	178584459	.	G	A	2330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=867;ExcessHet=0;FS=0.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.334;SOR=0.62	GT:AD:DP:GQ:PL	0/1:96,84:180:99:2344,0,2475	18	0	1	0
chr2	178650756	178650756	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R	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	1461	59	2	0	63	0.0211055	.	.	.	56094	Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0027	0.0393371	0.0306	0.0011	0.0060	0.1733	0.0345	0.0093	0.0292	0.0519	0.0160865	2487	154602	rs72650066	0.0092	0.0093	0.0082	0.0102	0.1324	0.0091	0.0090	0.1294	0.1281	0.0010	0.0021	0.0204	0.1324	0.0248	0.0181	0.0019	0.0140	0.0379	0.0096	0.0096	0.0080	0.0112	0.1243	0.0092	0.0090	0.1164	0.1132	0.0013	0.0044	0.0020	0.0196	0.1243	0.0241	0.0068	0.0029	0.0104	0.0377	0.22	0.30515	T	.	.	.	0.01	0.15535	B	0.01	0.14941	B	.	.	.	.	0.999584	0.38299	P	1.935	0.51832	L	-0.03	0.64630	T	-2.03	0.75297	N	0.088	0.14622	-1.0863	0.06173	T	0.001	0.00287	T	8	0.003309399	0.00057	T	.	.	.	0.104	0.29647	.	.	.	.	.	.	0.0905780317128	0.10218	0.281594097614	0.07715	T	.	.	.	-0.518947	0.00446	T	-0.388388	0.34741	T	0.00381521306306221	0.00040	T	0.206579	0.08622	T	.	.	.	.	.	.	.	.	-8.184	0.64469	D	.	.	0.096	0.28807	B	.;.;.;.;.	.;.;.;.;.	2.490476	0.32130	18.95	0.90375552909682755	0.19638	0.34615	0.25109	N	AEFDBI	0.164300	0.29068	N	-0.915212809601297	0.10486	0.5013117	-0.84299206343616	0.13457	0.6981461	0.232525281216098	0.18481	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	3.08	0.34576	2.103000	0.41430	.	.	-0.110000	0.15115	0.095000	0.22689	1.000000	0.68203	0.149000	0.20271	0.0:0.1349:0.7247:0.1404	11.644	0.50508	441	0.80015	.;.;.;.;.	.	.	.	.	.	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	1	0	0.016633	0.005051	0.012228	0.032164	0.050000	0.008772	0.018293	0.022727	0.05263	1173.83	33	chr2	178650756	.	G	C	1173.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.162;DP=692;ExcessHet=0.119;FS=0.726;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.266;SOR=0.706	GT:AD:DP:GQ:PL	0/1:28,32:60:99:695,0,742	17	0	2	0
chr2	178724331	178724331	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1469	50	2	0	54	0.0180481	.	.	.	55845	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.243	.	0.0026	0.0357428	0.0165	0.0012	0.0025	0.1206	0.0234	0.0040	0.0201	0.0283	0.0150904	2333	154602	rs72648960	0.0081	0.0081	0.0075	0.0088	0.1315	0.0080	0.0080	0.1285	0.1273	0.0011	0.0015	0.0107	0.1315	0.0249	0.0165	0.0016	0.0128	0.0263	0.0089	0.0089	0.0075	0.0104	0.1238	0.0085	0.0084	0.1159	0.1127	0.0017	0.0044	0.0019	0.0109	0.1238	0.0243	0.0034	0.0025	0.0104	0.0257	0.074	0.34621	T	.	.	.	0.096	0.25489	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	-2.43	0.53258	N	0.144	0.19861	-1.1269	0.01936	T	0.002	0.00738	T	9	0.0019120276	0.00026	T	.	.	.	0.243	0.54921	.	.	.	.	.	.	0.103848864121	0.11752	0.359437406063	0.19304	T	.	.	.	-0.453742	0.01073	T	-0.294725	0.45280	T	0.0290006924244436	0.01838	T	0.756924	0.39714	T	.	.	.	.	.	.	.	.	-5.853	0.45033	T	.	.	0.121	0.25265	B	.;.;.;.	.;.;.;.	3.504248	0.49039	22.7	0.96988817785172754	0.31892	0.91942	0.54598	D	AEFBI	0.709002	0.66323	D	0.0698934415565155	0.45062	2.769151	0.266236103342934	0.53580	3.526084	0.999691923627461	0.41870	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	0.757000	0.26098	.	.	0.676000	0.76740	0.946000	0.32893	1.000000	0.68203	0.990000	0.65344	0.0:0.168:0.832:0.0	16.243	0.82250	343	0.85802	.;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	1	0	0.014099	0.005051	0.009511	0.029240	0.000000	0.008621	0.012195	0.015152	0.05263	4193.83	35	chr2	178724331	.	G	A	4193.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.324;DP=987;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.611;SOR=0.687	GT:AD:DP:GQ:PL	0/1:107,82:189:99:2175,0,2951	17	0	2	0
chr2	178799710	178799710	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon6:c.G691A:p.A231T,TTN:NM_001267550:exon6:c.G691A:p.A231T,TTN:NM_003319:exon6:c.G691A:p.A231T,TTN:NM_133378:exon6:c.G691A:p.A231T,TTN:NM_133379:exon6:c.G691A:p.A231T,TTN:NM_133432:exon6:c.G691A:p.A231T,TTN:NM_133437:exon6:c.G691A:p.A231T	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	1520	2	0	0	2	0.000657462	.	.	.	686087	not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0260772671225	.	.	0.0002	0	8.639e-05	0	0	0	0	0.0012	0.0001294	20	154602	rs752452129	5.336e-05	5.336e-05	2.586e-05	8.113e-05	0.0008	4.344e-05	4.017e-05	0.0007	0.0006	0	0	0	0	0	0.0003	1.799e-06	6.623e-05	0.0008	1.314e-05	1.313e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.0	0.91255	D	0.139	0.33666	T	0.779	0.53363	P	0.232	0.50343	B	.	.	.	.	0.991947	0.41514	D	.	.	.	-0.11	0.64445	T	-2.07	0.57275	N	0.451	0.80375	-0.4375	0.70813	T	0.273	0.64484	T	9	0.07129669	0.10491	T	0.026077	0.49013	D	0.205	0.49236	0.246	0.18139	0.281381271821	0.27740	.	.	0.114828217214	0.12950	0.640542149544	0.58641	T	.	.	.	-0.235449	0.15935	T	-0.17158	0.57299	T	0.253864350667746	0.23045	T	0.862314	0.60027	D	.	.	.	.	.	.	.	.	-2.973	0.09893	T	.	.	0.143	0.31583	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.677361	0.52329	23.2	0.99735991644658117	0.83119	0.93860	0.59400	D	AEFBI	0.510549	0.53955	D	0.37098195795485	0.59856	4.168598	0.490362219092646	0.67348	5.072188	0.999999957002301	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.02	6.02	0.97559	3.233000	0.51011	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.541	0.99263	364	0.84707	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1099.33	33	chr2	178799710	.	C	T	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.836;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.771;SOR=0.695	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1113,0,1697	18	0	1	0
chr2	185809103	185809103	G	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.G19797C:p.K6599N	.	428	1042	49	3	0	55	0.0257129	.	.	.	3199559	FSIP2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0073	0.00678914	0.0116	0.0016	0.0042	0.0002	0.0166	0.0124	0.0173	0.0272	0.0103815	1605	154602	rs116639972	0.0093	0.0092	0.0088	0.0098	0.0225	0.0092	0.0091	0.0216	0.0213	0.0013	0.0045	0.0046	5.079e-05	0.0181	0.0168	0.0087	0.0090	0.0225	0.0075	0.0075	0.0070	0.0081	0.0249	0.0072	0.0070	0.0212	0.0199	0.0015	0	0.0041	0.0063	0.0002	0.0138	0.0102	0.0105	0.0076	0.0249	0.023	0.48186	D	0.067	0.44302	T	.	.	.	.	.	.	0.806472	0.09284	N	0.911688	1	0.08975	N	1.845	0.48678	L	0.73	0.50721	T	-2.68	0.57275	D	0.129	0.12341	-0.9822	0.34491	T	0.068	0.27879	T	8	0.0036090612	0.00065	T	.	.	.	0.014	0.01968	.	.	.	.	0.0519133847101251	0.05133	.	.	0.26068842411	0.04973	T	0.05467	0.29791	T	-0.613095	0.00121	T	-0.635191	0.10024	T	0.022243021460658	0.00936	T	0.653235	0.26349	T	0.15171036	0.34474	0.12621611	0.30401	0.15171036	0.34474	0.12621611	0.30400	-3.901	0.22318	T	.	.	0.319	0.54463	B	.	.	0.746859	0.11166	7.803	0.99714873155108819	0.81633	0.03258	0.08289	N	AEFI	.	.	.	-0.588860956506698	0.19282	1.007925	-0.710675363931795	0.16695	0.884392	1.7529838628638E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-1.78	0.07527	-0.771000	0.04805	-0.560000	0.08482	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.378000	0.26290	0.5388:0.0:0.3047:0.1566	4.555	0.11531	756	0.51065	Fibrous sheath-interacting protein 2, C-terminal	RP11-410E4.1	Brain_Hypothalamus	.	.	.	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	0.011917	0.005051	0.008152	0.010490	0.000000	0.000000	0.036585	0.011364	0.02632	876.33	40	chr2	185809103	.	G	C	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.73;DP=791;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.351;SOR=1.093	GT:AD:DP:GQ:PL	0/1:49,36:85:99:890,0,1227	18	0	1	0
chr2	196990814	196990814	A	G	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001367495:exon28:c.T3091C:p.F1031L,ANKRD44:NM_001367497:exon28:c.T3037C:p.F1013L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17496783	0.32404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59564	0.22108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.60582	A	.	.	2.327280	0.29806	18.24	0.54073269943863167	0.05065	0.81848	0.41171	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999972863413357	0.50053	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.092715	0.02821	0	0.308618	0.35059	5.65	3.27	0.36580	0.786000	0.26505	4.732000	0.44559	0.691000	0.84096	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.6691:0.1345:0.0679:0.1285	3.943	0.08831	421	0.81399	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	31.2	3	chr2	196990814	.	A	G	31.2	.	AC=2;AF=0.059;AN=34;DP=76;ExcessHet=0;FS=0;InbreedingCoeff=0.5065;MLEAC=1;MLEAF=0.029;MQ=60;QD=15.6;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	16	1	0	2
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,35:80:99:.:.:398,0,709:.	1	0	17	1
chr2	216162028	216162028	A	C	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon16:c.A1814C:p.K605T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0252023044111	.	.	1.648e-05	9.612e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs778076339	2.531e-05	2.531e-05	2.995e-05	2.063e-05	0.0026	1.868e-05	1.631e-05	0.0016	0.0013	5.974e-05	0	0	0	0	0.0026	1.709e-05	0	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.684e-05	2.404e-05	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0	0	0.0068	0	0	0	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.047738	0.999996	0.58761	D	2.995	0.85803	M	1.42	0.33189	T	-3.25	0.65283	D	0.612	0.63204	-0.8784	0.49888	T	0.170	0.51052	T	10	0.76536167	0.76662	D	0.025202	0.48177	D	0.239	0.54358	0.652	0.78963	0.165150595986	0.16160	0.620890953980976	0.62022	0.571196979018	0.53256	0.469043344259	0.34548	T	0.399992	0.75768	T	-0.157537	0.27139	T	-0.282539	0.46544	T	0.945148944854736	0.62203	D	0.847515	0.52873	T	0.48307574	0.66086	0.28372982	0.54367	0.48307574	0.66087	0.28372982	0.54366	-7.482	0.57484	T	.	.	0.239	0.47283	B	.;.	.;.	3.649587	0.51790	23.1	0.99816573917533169	0.89973	0.96263	0.68290	D	AEFBI	0.792837	0.72102	D	0.545536219484485	0.69811	5.410313	0.497683097846066	0.67837	5.137697	0.989387945337434	0.31809	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.52	4.37	0.51830	3.828000	0.55453	6.149000	0.54167	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9167:0.0:0.0833:0.0	9.043	0.35489	738	0.53389	Ku, C-terminal;Ku, 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	498.33	33	chr2	216162028	.	A	C	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.574;DP=673;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.121;SOR=0.42	GT:AD:DP:GQ:PL	0/1:23,23:46:99:512,0,671	18	0	1	0
chr2	218387204	218387204	T	C	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon6:c.T545C:p.F182S	.	.	.	.	.	.	.	.	.	.	.	2215175	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.664	0.159595919975	7.7e-05	0.000199681	2.49e-05	0	0	0	0	4.516e-05	0	0	3.23e-05	5	154602	rs145226482	3.626e-05	3.625e-05	3.404e-05	3.851e-05	0.0029	2.828e-05	2.565e-05	0.0019	0.0015	2.987e-05	2.237e-05	0	0	0	0.0029	2.338e-05	8.279e-05	3.479e-05	2.626e-05	2.624e-05	2.569e-05	2.685e-05	6.534e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.534e-05	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.984	0.76113	D	0.000241	0.46924	D	0.149958	0.999979	0.53665	D	3.37	0.91327	M	-0.54	0.70950	T	-7.1	0.93974	D	0.784	0.78072	0.409	0.89227	D	0.603	0.85894	D	10	0.91852593	0.91210	D	0.159596	0.83977	D	0.664	0.87479	.	.	0.895091469945	0.89405	0.8642807266137608	0.86392	0.69926860194	0.61024	0.610577464104	0.54397	T	0.841738	0.96315	D	0.145057	0.68803	D	0.126954	0.78693	D	0.972899496555328	0.69878	D	0.975102	0.91204	D	0.96442485	0.97722	0.9711722	0.99514	0.96442485	0.97722	0.9711722	0.99515	-12.879	0.88859	D	.	.	0.536	0.66203	A	.	.	5.235419	0.87887	29.4	0.99852334490757477	0.93191	0.95979	0.66988	D	AEFGBCI	0.956770	0.97552	D	0.698502381194811	0.79534	7.097925	0.59426192279721	0.74526	6.152284	0.999999999997553	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.526665	0.08891	0	.	.	5.18	5.18	0.71140	7.699000	0.83526	7.917000	0.74325	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0:0.0:0.0:1.0	15.208	0.72882	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	797.33	33	chr2	218387204	.	T	C	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.656;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.296;SOR=0.697	GT:AD:DP:GQ:PL	0/1:29,31:60:99:811,0,850	18	0	1	0
chr2	218429401	218429401	C	A	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon7:c.C684A:p.H228Q	Cholestasis, progressive canalicular (1)	416	1081	24	1	0	26	0.011883	.	.	.	366181	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0065	0.00239617	0.0071	0.0011	0.0102	0	0.0059	0.0094	0.0144	0.0032	0.0068369	1057	154602	rs148353573	0.0066	0.0066	0.0066	0.0065	0.0149	0.0065	0.0064	0.0124	0.0114	0.0012	0.0081	0.0257	2.519e-05	0.0065	0.0149	0.0066	0.0075	0.0032	0.0060	0.0060	0.0062	0.0058	0.0080	0.0057	0.0056	0.0074	0.0072	0.0011	0.0154	0.0078	0.0306	0	0.0057	0.0170	0.0080	0.0062	0.0027	0.633	0.05106	T	0.614	0.07592	T	0.001	0.07471	B	0.005	0.11217	B	0.000160	0.49130	D	0.137540	0.952916	0.58761	D	1.15	0.29295	L	1.58	0.29085	T	0.76	0.01978	N	0.224	0.35301	-1.0330	0.19490	T	0.025	0.10733	T	10	0.005089283	0.00110	T	.	.	.	0.051	0.14325	0.331	0.31681	0.171388866994	0.16791	0.15647472865071707	0.15568	0.189111939812	0.21227	0.356495201588	0.18874	T	0.075743	0.35250	T	-0.6343	0.00090	T	-0.67451	0.07322	T	0.000438966105577135	0.00004	T	0.684232	0.29249	T	0.044937074	0.07269	0.043821502	0.05540	0.044937074	0.07268	0.043821502	0.05539	-2.641	0.06821	T	.	.	0.111	0.21428	B	.;.	.;.	-0.292839	0.02648	0.336	0.34031459427493765	0.02060	0.19388	0.20641	N	AEFDBI	0.618131	0.60405	D	-1.48832403371047	0.01932	0.08479754	-1.39829127432	0.03270	0.1522101	6.956126258102E-4	0.07645	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.8	0.679	0.17141	-1.924000	0.01657	-9.390000	0.00827	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.256000	0.23417	0.0:0.4522:0.0:0.5478	8.171	0.30418	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	1	0	0.021169	0.025510	0.014946	0.035088	0.000000	0.008621	0.027439	0.015152	0.02632	2011.33	33	chr2	218429401	.	C	A	2011.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.73;DP=764;ExcessHet=0;FS=1.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.441;SOR=0.53	GT:AD:DP:GQ:PL	0/1:57,66:123:99:2025,0,1323	18	0	1	0
chr2	219243545	219243545	C	G	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon1:c.G29C:p.R10P,GLB1L:NM_001286423:exon2:c.G29C:p.R10P,GLB1L:NM_024506:exon2:c.G29C:p.R10P	.	428	1093	1	0	0	1	0.000457247	.	.	.	3443313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.515	0.0105381559471	.	.	3.307e-05	0	0	0	0	6.017e-05	0	0	2.59e-05	4	154602	rs755593846	3.283e-05	3.283e-05	3.811e-05	2.75e-05	0.0012	2.543e-05	2.249e-05	0.0006	0.0004	8.961e-05	0	0	0	0	0.0012	3.058e-05	6.623e-05	0	6.569e-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	0.31	0.23541	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.417000	0.04625	N	1.386070	1	0.08975	N	0	0.06538	N	-4.28	0.97126	D	0.62	0.93697	N	0.105	0.11340	-0.1128	0.79802	T	0.662	0.88280	D	10	0.19088215	0.34751	T	0.010538	0.27195	T	0.515	0.79279	0.574	0.69826	0.163833314356	0.15978	0.6996923110227794	0.69910	0.151989637949	0.17153	0.287597000599	0.08574	T	0.21421	0.57573	T	0.00451565	0.52277	T	-0.100839	0.63334	T	0.0322118892387108	0.02340	T	0.378962	0.18617	T	0.12041014	0.28334	0.071212284	0.15221	0.12041014	0.28333	0.071212284	0.15221	-2.024	0.03273	T	.	.	0.086	0.17146	B	.;.;.;.;.	.;.;.;.;.	-0.209814	0.03040	0.468	0.66669065796616411	0.08127	0.00143	0.00871	N	AEFDBHI	0.065257	0.12719	N	-1.6923219712839	0.00869	0.03761971	-1.7182921937549	0.01059	0.04752538	0.999998356668665	0.74766	0.632932	0.41330	0	0.588066	0.40923	0	0.608524	0.38960	0	0.755437	0.99637	0	.	.	4.97	-4.74	0.03013	-0.628000	0.05611	-0.040000	0.12681	-1.893000	0.00531	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.444:0.2166:0.1946:0.1449	1.614	0.02537	535	0.73288	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.014620	0.000000	0.000000	0.000000	0.000000	0.02632	986.33	33	chr2	219243545	.	C	G	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=744;ExcessHet=0;FS=4.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.17;SOR=0.387	GT:AD:DP:GQ:PL	0/1:52,36:88:99:1000,0,1312	18	0	1	0
chr2	225513525	225513525	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G376A:p.G126S,NYAP2:NM_001371273:exon4:c.G376A:p.G126S	.	428	1066	23	5	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0087	0.00559105	0.0070	0.0131	0.0036	0	0.0015	0.0095	0.0068	0.0013	0.0064488	997	154602	rs61752215	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0105	0.0042	0.0572	2.52e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0083	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0044	0.0550	0	0.0016	0.0170	0.0066	0.0067	0.0010	1.0	0.00964	T	0.985	0.02393	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.955	0.23872	L	1.28	0.35960	T	0.06	0.06253	N	0.839	0.83473	-1.0657	0.10386	T	0.098	0.36548	T	10	0.0072583854	0.00165	T	.	.	.	0.271	0.58633	.	.	0.043077524339	0.03247	0.19063985266315145	0.18981	0.340736581271	0.36013	0.712054312229	0.68891	T	0.004777	0.04195	T	-0.423853	0.01617	T	-0.371224	0.36745	T	0.0854194623662757	0.10666	T	0.791221	0.43226	T	0.1879688	0.40274	0.24215227	0.49630	0.1879688	0.40274	0.24215227	0.49628	2.523	0.00032	T	.	.	0.148	0.32804	B	.;.	.;.	3.433565	0.47730	22.5	0.98737237100527531	0.45452	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.355289609203242	0.59019	4.078083	0.363728750906551	0.59340	4.110883	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.02632	3950.33	34	chr2	225513525	.	G	A	3950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.274;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,102:208:99:0|1:225513525_G_A:3964,0,4123:225513525	18	0	1	0
chr2	225513526	225513526	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G377A:p.G126D,NYAP2:NM_001371273:exon4:c.G377A:p.G126D	.	426	1068	23	5	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	.	0.0088	0.00539137	0.0070	0.0131	0.0033	0	0.0015	0.0095	0.0068	0.0013	0.0064229	993	154602	rs61753537	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0106	0.0040	0.0572	2.521e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0082	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0042	0.0550	0	0.0016	0.0170	0.0066	0.0066	0.0010	0.152	0.24468	T	0.627	0.07267	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.67	0.78151	M	0.94	0.43672	T	-2.32	0.51478	N	0.91	0.91162	-0.8570	0.51477	T	0.185	0.53376	T	10	0.007973403	0.00181	T	.	.	.	0.303	0.62400	.	.	0.102598925029	0.09809	0.2733870242097265	0.27251	0.672938121939	0.59561	0.790424525738	0.80507	T	0.086051	0.37638	T	-0.3985	0.02369	T	-0.334806	0.40931	T	0.0451339892480626	0.04626	T	0.947205	0.79675	D	0.39915887	0.60674	0.43386617	0.66925	0.39915887	0.60675	0.43386617	0.66925	-6.284	0.48595	T	.	.	0.788	0.76741	P	.;.	.;.	4.722858	0.75993	26.4	0.9982111281595506	0.90414	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.568793636542226	0.71232	5.619923	0.516089587561411	0.69071	5.308454	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.02632	3950.33	34	chr2	225513526	.	G	A	3950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.307;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,102:208:99:0|1:225513525_G_A:3964,0,4123:225513525	18	0	1	0
chr2	227330847	227330847	-	AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	splicing	MFF	NM_001277062:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277061:exon4:c.259+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277063:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277066:exon2:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277065:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277064:exon3:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_020194:exon4:c.259+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277068:exon2:c.181+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT;NM_001277067:exon3:c.31+1->AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	.	.	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	429	1076	16	0	1	17	0.00738007	.	.	.	1919999	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0019	0	0	0	0.0002	0	0.0002	3.84e-05	1	26028	.	0.0001	0.0003	0.0001	0.0001	0.0007	0.0001	0.0001	0.0004	0.0004	0.0007	8.953e-05	0.0003	0.0002	0.0001	0.0002	9.738e-05	0.0002	0.0003	8.577e-05	0.0006	7.749e-05	9.442e-05	0.0001	4.977e-05	3.978e-05	4.765e-05	3.07e-05	0.0001	0	6.551e-05	0.0003	0	9.466e-05	0	7.371e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	700.79	41	chr2	227330847	.	G	GAAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT	700.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.84;DP=1333;ExcessHet=0.119;FS=11.381;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.71;MQRankSum=-10.44;QD=1.18;ReadPosRankSum=-3.93;SOR=2.07	GT:AD:DP:GQ:PL	0/1:240,26:266:99:352,0,9972	17	0	2	0
chr2	227991324	227991324	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_030623:exon9:c.A4637G:p.E1546G,SPHKAP:NM_001142644:exon10:c.A4724G:p.E1575G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0141436157675	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775285111	1.3e-05	1.3e-05	4.084e-06	2.2e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.265	0.30729	T	0.999	0.77913	D	0.987	0.77487	D	0.000188	0.48115	D	0.211461	0.999274	0.46519	D	2.34	0.67151	M	2.54	0.14038	T	-2.62	0.56301	D	0.8	0.79599	-1.1381	0.01431	T	0.084	0.32957	T	10	0.45756817	0.60980	T	0.014144	0.34055	T	0.198	0.48105	0.13	0.03494	0.282179105231	0.27821	0.3778589115104448	0.37700	0.338184895751	0.35792	0.504336535931	0.39432	T	0.072586	0.34489	T	-0.0655294	0.42039	T	-0.0576052	0.66499	T	0.899531424045563	0.55186	D	0.807619	0.45757	T	0.23494582	0.46323	0.36314553	0.61707	0.23494582	0.46323	0.36314553	0.61706	-4.183	0.29733	T	.	.	0.155	0.39116	B	.;.	.;.	4.671723	0.74675	26.2	0.99871696232683449	0.94902	0.97047	0.72382	D	AEI	0.806233	0.73060	D	0.678979606982518	0.78254	6.834861	0.695249350117776	0.82015	7.664195	0.119569880501902	0.16847	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	5.175000	0.64857	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.329	0.66103	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1187.33	33	chr2	227991324	.	T	C	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.993;DP=809;ExcessHet=0;FS=1.645;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.2;SOR=0.521	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1201,0,1715	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,71:132:99:.:.:2674,0,2268:.	6	3	10	0
chr2	237368568	237368568	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon7:c.G3074A:p.R1025Q,COL6A3:NM_057167:exon9:c.G4277A:p.R1426Q,COL6A3:NM_004369:exon10:c.G4895A:p.R1632Q	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	2	1499	17	4	0	25	0.00826993	.	.	.	100841	Bethlem_myopathy_1A|Dystonia_27|Ullrich_congenital_muscular_dystrophy_1A|Collagen_6-related_myopathy|not_specified|not_provided	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0014627,MedGen:C4225336,OMIM:616411,Orphanet:464440|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.138	.	0.0010	0.0169728	0.0106	0.0005	0.0010	0.0362	0.0315	0.0028	0.0110	0.0330	0.0094824	1466	154602	rs111231885	0.0050	0.0050	0.0043	0.0057	0.0371	0.0049	0.0049	0.0355	0.0349	0.0005	0.0008	0.0010	0.0371	0.0266	0.0095	0.0012	0.0081	0.0284	0.0057	0.0057	0.0037	0.0077	0.0385	0.0054	0.0052	0.0341	0.0324	0.0003	0	0.0011	0.0014	0.0385	0.0340	0.0170	0.0016	0.0062	0.0310	0.298	0.15406	T	0.138	0.33780	T	0.744	0.43069	P	0.115	0.31843	B	0.094742	0.20157	N	0.403035	1	0.08975	N	1.59	0.40313	L	-1.13	0.77719	T	-0.42	0.14588	N	0.111	0.17691	-0.9007	0.47920	T	0.077	0.30676	T	10	0.003070861	0.00051	T	.	.	.	0.138	0.37187	.	.	.	.	0.27369107487964184	0.27282	0.181760226822	0.20427	0.32082092762	0.13546	T	0.120905	0.44348	T	-0.531824	0.00375	T	-0.510245	0.21290	T	0.0120523430210651	0.00191	T	0.820918	0.48005	T	0.04517161	0.07349	0.023076456	0.00323	0.042766616	0.06546	0.024133898	0.00429	-2.857	0.10409	T	0.12059516096656088	0.11355	0.070	0.06479	B	.;.;.;.;.	.;.;.;.;.	0.705618	0.10744	7.433	0.67849119648323708	0.08478	0.04402	0.09988	N	AEFBI	0.188685	0.31595	N	-0.965459690025199	0.09349	0.4420911	-1.04912676057481	0.08725	0.4303999	0.989070004496577	0.31712	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.57	-0.801	0.10344	-0.909000	0.04167	0.000000	0.13247	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2239:0.426:0.1205:0.2297	1.627	0.02561	944	0.12746	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012097	0.000000	0.010870	0.020468	0.000000	0.008621	0.003049	0.018939	0.02632	1440.33	33	chr2	237368568	.	C	T	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.478;SOR=0.692	GT:AD:DP:GQ:PL	0/1:70,51:121:99:1454,0,1987	18	0	1	0
chr2	237527469	237527469	G	A	exonic	MLPH	.	nonsynonymous SNV	MLPH:NM_001281473:exon7:c.G853A:p.A285T,MLPH:NM_001042467:exon8:c.G973A:p.A325T,MLPH:NM_024101:exon8:c.G973A:p.A325T	Griscelli syndrome, type 3, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00471551015111	7.7e-05	.	8.237e-05	0	0	0.0001	0	0.0001	0	0.0001	6.47e-05	10	154602	rs369514614	9.713e-05	9.713e-05	0.0001	9.213e-05	0.0002	8.376e-05	7.915e-05	9.468e-05	8.872e-05	0	0.0001	0	2.519e-05	0	0.0002	0.0001	0.0001	3.478e-05	5.914e-05	5.91e-05	5.139e-05	6.726e-05	0.0001	3.078e-05	2.21e-05	4.765e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.677	0.07071	T	0.777	0.07468	T	0.043	0.23997	B	0.029	0.22131	B	0.743658	0.06443	N	1.134500	1	0.20930	N	0.99	0.25021	L	2.06	0.29866	T	-0.48	0.19085	N	0.122	0.16864	-1.0073	0.27758	T	0.050	0.21104	T	10	0.056817025	0.06428	T	0.004716	0.11722	T	0.044	0.11924	.	.	0.246215685461	0.24236	0.15293347959640843	0.15215	0.101771959714	0.11512	0.268619447947	0.05962	T	0.141302	0.47629	T	-0.44432	0.01220	T	-0.650309	0.08933	T	0.0213763894986152	0.00840	T	0.615039	0.24395	T	0.030157208	0.02631	0.04389756	0.05564	0.030157208	0.02630	0.04389756	0.05564	-3.615	0.31932	T	0.20370237983557327	0.27128	0.086	0.24532	B	.;.;.	.;.;.	-0.091276	0.03692	0.751	0.87898894124246885	0.17564	0.03734	0.09030	N	AEFDBCI	0.131214	0.25007	N	-1.17146619330755	0.05435	0.2478053	-1.31906598912916	0.04184	0.1968114	0.341556975429706	0.19589	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.71	-3.17	0.04882	-0.337000	0.07898	-0.856000	0.07159	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4046:0.0:0.3393:0.256	3.942	0.08828	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1858.33	34	chr2	237527469	.	G	A	1858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.624;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.715;SOR=0.731	GT:AD:DP:GQ:PL	0/1:44,74:118:99:1872,0,1131	18	0	1	0
chr2	238081724	238081724	C	T	exonic	SCLY	.	nonsynonymous SNV	SCLY:NM_016510:exon5:c.C500T:p.P167L	.	434	1081	6	1	0	8	0.00368664	.	.	.	2432022	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.359	0.199029072943	.	.	9.082e-05	0	0	0	0	7.507e-05	0	0.0004	7.12e-05	11	154602	rs773962297	9.304e-05	9.303e-05	8.168e-05	0.0001	0.0017	8.025e-05	7.518e-05	0.0009	0.0007	0	0	0	2.519e-05	0	0.0017	6.026e-05	0.0003	0.0004	6.571e-05	6.567e-05	8.992e-05	4.036e-05	0.0001	3.517e-05	2.616e-05	4.764e-05	3.338e-05	2.413e-05	0	0	0	0	9.42e-05	0	0.0001	0.0005	0	0.029	0.91255	D	0.018	0.67890	D	0.999	0.77913	D	0.879	0.62418	P	0.000618	0.42945	D	0.231804	1	0.81001	D	3.12	0.87914	M	1.51	0.87910	T	-6.54	0.94758	D	0.465	0.50146	0.225	0.86328	D	0.569	0.84377	D	10	0.79340994	0.78858	D	0.199029	0.86629	D	0.359	0.67962	0.715	0.85051	0.91296434331	0.91208	.	.	0.394222162191	0.40582	0.619552612305	0.55667	T	.	.	.	0.0716149	0.61045	D	0.169641	0.81388	D	0.630746364593506	0.37649	D	0.960304	0.85063	D	.	.	.	.	.	.	.	.	-8.691	0.65687	D	.	.	0.332	0.55376	B	.;.;.	.;.;.	4.465754	0.69550	25.4	0.99843995028405252	0.92403	0.98379	0.82178	D	AEFDBI	0.741435	0.68537	D	0.477075522751307	0.65754	4.862412	0.476300668683268	0.66424	4.950132	0.999999854472093	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.998000	0.63670	3.871000	0.40188	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.148000	0.20235	0.0:1.0:0.0:0.0	18.910	0.92455	964	0.07719	Aminotransferase class V domain;Aminotransferase class V 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	0.02632	1190.33	33	chr2	238081724	.	C	T	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-1.977;SOR=0.717	GT:AD:DP:GQ:PL	0/1:30,44:74:99:1204,0,675	18	0	1	0
chr2	240746156	240746156	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon28:c.G2782A:p.V928M,KIF1A:NM_001379637:exon28:c.G2857A:p.V953M,KIF1A:NM_001379639:exon28:c.G2782A:p.V928M,KIF1A:NM_001379640:exon28:c.G2782A:p.V928M,KIF1A:NM_001379641:exon28:c.G2782A:p.V928M,KIF1A:NM_001379648:exon28:c.G2857A:p.V953M,KIF1A:NM_001379649:exon28:c.G2782A:p.V928M,KIF1A:NM_001379650:exon28:c.G2782A:p.V928M,KIF1A:NM_001379651:exon28:c.G2782A:p.V928M,KIF1A:NM_001379653:exon28:c.G2782A:p.V928M,KIF1A:NM_004321:exon28:c.G2782A:p.V928M,KIF1A:NM_001320705:exon29:c.G2809A:p.V937M,KIF1A:NM_001330289:exon29:c.G2809A:p.V937M,KIF1A:NM_001330290:exon29:c.G2884A:p.V962M,KIF1A:NM_001379632:exon29:c.G3034A:p.V1012M,KIF1A:NM_001379633:exon29:c.G3058A:p.V1020M,KIF1A:NM_001379634:exon29:c.G2884A:p.V962M,KIF1A:NM_001379635:exon29:c.G2884A:p.V962M,KIF1A:NM_001379638:exon29:c.G2809A:p.V937M,KIF1A:NM_001379642:exon29:c.G3058A:p.V1020M,KIF1A:NM_001379645:exon29:c.G3058A:p.V1020M,KIF1A:NM_001379646:exon29:c.G2884A:p.V962M,KIF1A:NM_001244008:exon30:c.G3085A:p.V1029M,KIF1A:NM_001379631:exon30:c.G3160A:p.V1054M	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	244353	Hereditary_spastic_paraplegia_30|not_provided|Intellectual_disability|Hereditary_spastic_paraplegia|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|not_specified|KIF1A-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0770635392542	0.0019	0.000599042	0.0022	0.0004	0.0021	0.0009	0	0.0040	0	0.0004	0.0011125	172	154602	rs183359489	0.0026	0.0025	0.0027	0.0025	0.0093	0.0025	0.0025	0.0073	0.0066	0.0007	0.0009	3.949e-05	5.427e-05	0.0005	0.0093	0.0031	0.0018	9.979e-05	0.0015	0.0015	0.0016	0.0014	0.0026	0.0014	0.0013	0.0022	0.0021	0.0006	0	0.0018	0	0	9.409e-05	0.0034	0.0026	0.0009	0	0.063	0.37750	T	0.181	0.29346	T	0.776	0.77913	P	0.143	0.66904	B	0.081690	0.20851	U	0.336055	0.977249	0.25325	N	0.895	0.22405	L	-0.72	0.72994	T	-0.88	0.23808	N	0.191	0.20925	-0.6336	0.63418	T	0.351	0.71470	T	10	0.0064137876	0.00145	T	0.077064	0.72681	D	0.162	0.41843	.	.	0.571805964	0.56847	0.3413837928640317	0.34051	0.454739614007	0.45157	0.490992546082	0.37576	T	0.161617	0.50594	T	-0.392494	0.02592	T	-0.338357	0.40531	T	0.0164996068946533	0.00414	T	0.889911	0.62511	D	0.08152843	0.18737	0.103772976	0.24907	0.07657588	0.17326	0.08800213	0.20491	-6.24	0.54383	T	.	.	0.086	0.14523	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.683811	0.52454	23.2	0.99752932778855286	0.84382	0.37935	0.25874	N	AEFBCI	0.345184	0.44042	N	-0.0975148357127983	0.37500	2.182663	-0.117471366012413	0.34686	1.998013	0.961930002833746	0.28587	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.97	3.97	0.45241	2.206000	0.42416	2.091000	0.30548	0.549000	0.26987	0.005000	0.17040	0.007000	0.19602	0.757000	0.36037	0.0:1.0:0.0:0.0	16.018	0.80257	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	0.005051	0.005051	0.002732	0.014706	0.000000	0.017241	0.003067	0.000000	0.02632	994.33	38	chr2	240746156	.	C	T	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=734;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=-0.492;SOR=1.008	GT:AD:DP:GQ:PL	0/1:22,35:57:99:1008,0,499	18	0	1	0
chr2	241653596	241653596	G	A	exonic	ATG4B	.	nonsynonymous SNV	ATG4B:NM_013325:exon4:c.G269A:p.R90Q,ATG4B:NM_178326:exon4:c.G269A:p.R90Q	.	428	1066	27	1	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0074	0.00379393	0.0133	0.0019	0.0151	0	0.0038	0.0217	0.0203	0.0059	0.0054721	846	154602	rs143448469	0.0084	0.0084	0.0086	0.0082	0.0115	0.0083	0.0083	0.0094	0.0093	0.0012	0.0061	0.0085	0	0.0019	0.0115	0.0095	0.0081	0.0058	0.0063	0.0063	0.0069	0.0056	0.0101	0.0060	0.0058	0.0095	0.0092	0.0020	0	0.0059	0.0089	0.0002	0.0014	0.0170	0.0101	0.0085	0.0052	0.161	0.31834	T	0.322	0.20100	T	0.556	0.38244	P	0.091	0.30945	B	0.000000	0.84330	D	0.047151	1	0.81001	D	2.23	0.63091	M	0.95	0.43279	T	-1.7	0.50992	N	0.368	0.42149	-1.0923	0.05159	T	0.069	0.28379	T	10	0.011255324	0.00247	T	.	.	.	0.139	0.37390	.	.	0.481781477641	0.47810	0.6773881101384202	0.67677	0.531207737867	0.50628	0.730025172234	0.71509	T	0.192883	0.54817	T	-0.431599	0.01450	T	-0.383344	0.35330	T	0.0161125259673247	0.00388	T	0.90111	0.76517	D	0.22813143	0.45527	0.14164001	0.33723	0.22813143	0.45527	0.14164001	0.33722	-10.691	0.78884	D	.	.	0.102	0.30291	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.449558	0.48029	22.5	0.99368769700867821	0.61326	0.86693	0.46028	D	AEFDGBHCI	0.595943	0.59030	D	-0.0734414435126395	0.38560	2.260309	0.0329078568499295	0.41254	2.475339	0.999999999999996	0.74766	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	3.977000	0.56581	6.481000	0.55737	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0767:0.0:0.9233:0.0	13.453	0.60636	976	0.04745	.;.;.;.;.;.;.;.	GAL3ST2|AC114730.3	Adipose_Subcutaneous|Artery_Aorta	D2HGDH	Nerve_Tibial	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007107	0.005208	0.009537	0.005882	0.000000	0.000000	0.009317	0.007634	0.07895	3393.79	36	chr2	241653596	.	G	A	3393.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.472;DP=820;ExcessHet=0.3672;FS=1.555;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.21;SOR=0.801	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1470,0,1271	16	0	3	0
chr3	1321796	1321796	G	A	exonic	CNTN6	.	nonsynonymous SNV	CNTN6:NM_001349357:exon6:c.G596A:p.R199Q,CNTN6:NM_001289081:exon7:c.G692A:p.R231Q,CNTN6:NM_001349356:exon7:c.G800A:p.R267Q,CNTN6:NM_001289080:exon8:c.G908A:p.R303Q,CNTN6:NM_014461:exon8:c.G908A:p.R303Q,CNTN6:NM_001349352:exon9:c.G908A:p.R303Q,CNTN6:NM_001349353:exon9:c.G908A:p.R303Q,CNTN6:NM_001349354:exon9:c.G908A:p.R303Q,CNTN6:NM_001349355:exon9:c.G908A:p.R303Q,CNTN6:NM_001349350:exon10:c.G908A:p.R303Q,CNTN6:NM_001349351:exon10:c.G908A:p.R303Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	697838	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.396	0.0865327259045	0.0070	0.00259585	0.0056	0.0014	0.0018	0	0.0061	0.0087	0.0088	0.0012	0.0059831	925	154602	rs41293401	0.0085	0.0085	0.0087	0.0083	0.0102	0.0084	0.0084	0.0101	0.0100	0.0010	0.0020	0.0026	0	0.0072	0.0007	0.0102	0.0063	0.0014	0.0062	0.0062	0.0065	0.0059	0.0104	0.0059	0.0058	0.0098	0.0095	0.0015	0.0121	0.0045	0.0017	0	0.0070	0.0034	0.0104	0.0081	0	0.004	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.985	0.76457	D	0.000160	0.49130	D	0.000000	0.999975	0.53665	D	0.27	0.09956	N	-0.22	0.66474	T	-2.16	0.48850	N	0.84	0.83781	-0.5088	0.68330	T	0.196	0.54985	T	10	0.020736754	0.00483	T	0.086533	0.74755	D	0.396	0.71084	.	.	0.864534791568	0.86321	0.4660911549389278	0.46528	0.0195420639017	0.01909	0.403156906366	0.25509	T	0.216215	0.57831	T	-0.169154	0.25364	T	-0.0027804	0.70156	D	0.0269487268650619	0.01537	T	0.954005	0.82493	D	0.23896591	0.46781	0.2292308	0.47989	0.26914942	0.49987	0.2292308	0.47988	-7.739	0.59278	D	.	.	0.170	0.48355	B	.;.	.;.	4.894080	0.80374	27.3	0.99957884476905234	0.99986	0.98961	0.89215	D	AEFI	0.842250	0.75937	D	0.597831235242187	0.73040	5.901428	0.703204526677779	0.82624	7.812802	0.999986469490647	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	9.128000	0.93719	11.632000	0.93711	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.459	0.90681	976	0.04745	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	702.33	33	chr3	1321796	.	G	A	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.714;DP=700;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.298;SOR=1.247	GT:AD:DP:GQ:PL	0/1:40,29:69:99:716,0,1018	18	0	1	0
chr3	3147456	3147456	-	TAAACT	exonic	TRNT1	.	nonframeshift insertion	TRNT1:NM_001302946:exon7:c.749_750insTAAACT:p.P250_A251insKL,TRNT1:NM_001367321:exon7:c.809_810insTAAACT:p.P270_A271insKL,TRNT1:NM_001367322:exon7:c.809_810insTAAACT:p.P270_A271insKL,TRNT1:NM_001367323:exon7:c.809_810insTAAACT:p.P270_A271insKL,TRNT1:NM_182916:exon7:c.809_810insTAAACT:p.P270_A271insKL	Retinitis pigmentosa and erythrocytic microcytosis, Autosomal recessive;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, Autosomal recessive	462	1059	1	0	0	1	0.000471921	.	.	.	452316	not_provided|not_specified|Congenital_sideroblastic_anemia-B-cell_immunodeficiency-periodic_fever-developmental_delay_syndrome|Retinal_dystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014487,MedGen:C4015172,OMIM:616084,Orphanet:369861|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/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00519169	0.0014	0	8.657e-05	0.0147	0	3.016e-05	0	0.0025	0.0003074	8	26028	rs527331900	0.0005	0.0005	0.0005	0.0006	0.0118	0.0005	0.0005	0.0109	0.0106	0	2.238e-05	0	0.0118	0	0	7.197e-06	0.0011	0.0027	0.0007	0.0007	0.0006	0.0007	0.0160	0.0006	0.0005	0.0132	0.0122	0	0	6.539e-05	0	0.0160	0	0	0	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	705.29	33	chr3	3147456	.	C	CTAAACT	705.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-1.391;SOR=0.704	GT:AD:DP:GQ:PL	0/1:23,19:42:99:719,0,909	18	0	1	0
chr3	9944565	9944565	A	G	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374320:exon9:c.A1165G:p.I389V,CRELD1:NM_001374319:exon10:c.A1165G:p.I389V,CRELD1:NM_015513:exon10:c.A1249G:p.I417V,CRELD1:NM_001077415:exon11:c.A1249G:p.I417V,CRELD1:NM_001374316:exon11:c.A1249G:p.I417V	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	2	1496	24	0	0	24	0.00795756	.	.	.	1275042	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0282874559487	0.0019	0.00179712	0.0027	0.0003	0.0006	0.0001	0.0021	0.0030	0.0039	0.0054	0.0022703	351	154602	rs115361983	0.0023	0.0023	0.0021	0.0024	0.0050	0.0022	0.0022	0.0046	0.0044	0.0004	0.0010	0.0042	5.04e-05	0.0021	0.0043	0.0022	0.0027	0.0050	0.0016	0.0016	0.0016	0.0015	0.0046	0.0014	0.0013	0.0031	0.0026	0.0007	0	0.0010	0.0055	0	0.0008	0	0.0021	0.0014	0.0046	0.027	0.46513	D	0.044	0.49663	D	0.493	0.37004	P	0.155	0.34417	B	.	.	.	.	0.612953	0.81001	D	0.55	0.14455	N	0.17	0.60485	T	-0.09	0.08340	N	0.202	0.24634	-1.0016	0.29459	T	0.106	0.38611	T	8	0.008063853	0.00183	T	0.028287	0.50986	D	0.086	0.25016	.	.	0.498387242485	0.49473	.	.	.	.	.	.	.	0.002587	0.01974	T	-0.426495	0.01557	T	-0.384178	0.35232	T	0.0145331668245755	0.00297	T	0.831917	0.49916	T	0.07659884	0.17335	0.11151908	0.26901	0.08927661	0.20853	0.1245708	0.30023	-3.794	0.20715	T	.	.	0.148	0.32613	B	.;.;.	.;.;.	3.794293	0.54638	23.5	0.99730122280845368	0.82690	0.94990	0.63039	D	AEFDBHCI	0.690326	0.65069	D	0.0620998676865274	0.44702	2.739383	0.225965104077771	0.51292	3.313078	0.99999999880878	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	5.305000	0.65541	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.052	0.64267	628	0.65206	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05263	1222.83	34	chr3	9944565	.	A	G	1222.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=698;ExcessHet=0.119;FS=4.73;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.045;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,27:46:99:.:.:779,0,585:.	17	0	2	0
chr3	11298777	11298777	C	T	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001136031:exon2:c.C82T:p.H28Y,ATG7:NM_001144912:exon2:c.C82T:p.H28Y,ATG7:NM_001349236:exon2:c.C82T:p.H28Y,ATG7:NM_001349237:exon2:c.C82T:p.H28Y,ATG7:NM_006395:exon2:c.C82T:p.H28Y,ATG7:NM_001349233:exon3:c.C82T:p.H28Y,ATG7:NM_001349234:exon3:c.C82T:p.H28Y,ATG7:NM_001349235:exon3:c.C82T:p.H28Y,ATG7:NM_001349232:exon4:c.C82T:p.H28Y	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.00790857879451	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400707538	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	6.572e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.58	0.75369	M	0.79	0.49068	T	-4.96	0.83557	D	0.861	0.87917	-0.4344	0.70919	T	0.358	0.71998	T	10	0.8127272	0.80541	D	0.007909	0.20981	T	0.416	0.72631	0.504	0.59770	0.794174676061	0.79225	0.8221237066898556	0.82169	0.683117949677	0.60146	0.762381136417	0.76285	T	0.286429	0.87761	T	0.0282254	0.55487	T	-0.0157047	0.69311	D	0.992834568023682	0.83423	D	0.962104	0.87848	D	0.80308133	0.84103	0.88198686	0.93701	0.80308133	0.84104	0.88198686	0.93701	-7.8	0.59699	D	.	.	0.291	0.57355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.059414	0.60236	24.2	0.99842794792709455	0.92316	0.98398	0.82369	D	AEFGBI	0.890512	0.82562	D	0.924046529384758	0.92887	11.68929	0.916025701882504	0.96232	14.45373	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.432000	0.79528	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.474	0.99171	655	0.62421	Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;.;.;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal;Ubiquitin-like modifier-activating enzyme Atg7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1075.33	33	chr3	11298777	.	C	T	1075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.753;DP=706;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.128;SOR=0.544	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1089,0,878	18	0	1	0
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L,FBLN2:NM_001165035:exon2:c.C1226T:p.P409L,FBLN2:NM_001998:exon2:c.C1226T:p.P409L	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.005051	0.012228	0.008772	0.050000	0.034483	0.030488	0.030303	0.07895	4932.79	34	chr3	13571581	.	C	T	4932.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.21;DP=1003;ExcessHet=0.3672;FS=3.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.752;SOR=0.544	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1503,0,1229	16	0	3	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,46:194:99:0|1:15003967_C_G:275,0,4576:15003967	8	0	11	0
chr3	16302680	16302680	T	C	exonic	OXNAD1	.	nonsynonymous SNV	OXNAD1:NM_001330670:exon8:c.T770C:p.I257T,OXNAD1:NM_001330671:exon8:c.T770C:p.I257T,OXNAD1:NM_001352977:exon8:c.T716C:p.I239T,OXNAD1:NM_001352978:exon8:c.T716C:p.I239T,OXNAD1:NM_138381:exon8:c.T716C:p.I239T,OXNAD1:NM_001352980:exon9:c.T635C:p.I212T,OXNAD1:NM_001352981:exon9:c.T635C:p.I212T,OXNAD1:NM_001352982:exon9:c.T635C:p.I212T,OXNAD1:NM_001352983:exon9:c.T635C:p.I212T	.	.	.	.	.	.	.	.	.	.	.	2424863	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.00618456942732	0.0002	.	8e-05	0.0004	9.126e-05	0	0	4.86e-05	0	6.677e-05	5.82e-05	9	154602	rs144054197	3.353e-05	3.42e-05	3.405e-05	3.302e-05	0.0006	2.567e-05	2.313e-05	0.0004	0.0003	0.0006	0.0001	0	0	0	0.0002	1.439e-05	4.97e-05	4.641e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0.0003	0	0	0	0	0	0.0005	0	0.004	0.65419	D	0.064	0.44905	T	0.959	0.55135	D	0.696	0.54017	P	0.000004	0.62929	D	0.140101	0.999971	0.53665	D	2.43	0.70455	M	2.2	0.18570	T	-2.07	0.47344	N	0.745	0.75101	-1.0275	0.21266	T	0.125	0.42945	T	10	0.5855292	0.66088	D	0.006185	0.16200	T	0.240	0.54500	.	.	0.350088858571	0.34617	0.8042388786433923	0.80377	0.179236820395	0.20168	0.63987827301	0.58547	T	0.288236	0.66102	T	-0.19374	0.21710	T	-0.107418	0.62816	T	0.118139966837619	0.14247	T	0.904909	0.66542	D	0.35801238	0.57684	0.32677743	0.58582	0.35801238	0.57684	0.32677743	0.58581	-8.789	0.66329	D	.	.	0.381	0.61290	A	.;.;.;.;.	.;.;.;.;.	4.182338	0.62975	24.5	0.99860429977390852	0.93911	0.94709	0.62060	D	AEFDBHCIJ	0.620907	0.60579	D	0.623039573657516	0.74634	6.166138	0.6356912107024	0.77551	6.70089	0.999999999999953	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658105	0.52812	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.043000	0.64012	4.767000	0.44750	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.154	0.81460	714	0.56256	Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	792.33	33	chr3	16302680	.	T	C	792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.217;DP=706;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.142;SOR=0.738	GT:AD:DP:GQ:PL	0/1:40,32:72:99:806,0,1047	18	0	1	0
chr3	23967897	23967897	G	A	exonic	NR1D2	.	nonsynonymous SNV	NR1D2:NM_001145425:exon7:c.G1192A:p.D398N,NR1D2:NM_005126:exon7:c.G1417A:p.D473N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0417383593559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.43	0.13713	T	.	.	.	.	.	.	0.001654	0.38382	N	0.308537	0.983574	0.40032	D	.	.	.	-4.09	0.96627	D	-0.31	0.12099	N	0.592	0.61172	0.280	0.87228	D	0.759	0.91784	D	10	0.4581454	0.59118	T	0.041738	0.60088	D	0.330	0.65226	0.437	0.48993	0.660364553915	0.65752	0.30832656234520495	0.30745	0.200394867274	0.22444	0.689833581448	0.65682	T	.	.	.	0.0356233	0.56469	T	-0.186606	0.55907	T	0.736513614654541	0.42551	D	0.833317	0.50212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.08997	B	.	.	3.745977	0.53668	23.4	0.99770295654834584	0.85834	0.96493	0.69413	D	AEFBI	0.541382	0.55756	D	-0.0513332134552327	0.39544	2.333598	0.193287952045334	0.49479	3.150519	0.999999997283264	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	5.673000	0.67781	11.850000	0.98050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.352	0.98816	541	0.72942	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	636.33	33	chr3	23967897	.	G	A	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.632;DP=671;ExcessHet=0;FS=2.39;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.36;SOR=1.15	GT:AD:DP:GQ:PL	0/1:30,24:54:99:650,0,778	18	0	1	0
chr3	33114165	33114165	C	A	exonic	CRTAP	.	nonsynonymous SNV	CRTAP:NM_006371:exon1:c.C88A:p.R30S	Osteogenesis imperfecta, type VII, Autosomal recessive	1	1513	6	0	2	8	0.00197889	.	.	.	561384	Osteogenesis_imperfecta_type_7|not_provided	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.514404021768	.	.	0.0003	0	0	0	0	0.0002	0.0020	0.0012	0.0001552	24	154602	rs553076085	0.0001	0.0001	7.899e-05	0.0002	0.0013	0.0001	9.512e-05	0.0008	0.0007	0	2.285e-05	0	0	0	0.0013	6.323e-05	0.0002	0.0009	7.885e-05	7.875e-05	9e-05	6.72e-05	0.0008	4.497e-05	3.512e-05	0.0003	0.0002	0	0	0	0	0	0	0.0034	0.0001	0	0.0008	0.017	0.56456	D	0.322	0.19016	T	0.626	0.40074	P	0.3	0.43538	B	0.000003	0.62929	D	0.059868	0.99978	0.49076	D	2.25	0.63811	M	-0.96	0.75553	T	-0.9	0.24244	N	0.478	0.54234	-0.3022	0.74924	T	0.364	0.72498	T	10	0.14050329	0.26707	T	0.514404	0.95351	D	0.316	0.63799	0.369	0.37850	0.860281486465	0.85893	0.5639539647538084	0.56322	0.165905707828	0.18718	0.881907701492	0.94216	D	0.126983	0.45372	T	-0.227726	0.16951	T	-0.159081	0.58434	T	0.0846753445083178	0.10574	T	0.847215	0.52823	T	0.54783183	0.69835	0.37500122	0.62654	0.54783183	0.69836	0.37500122	0.62653	-4.084	0.25054	T	.	.	0.314	0.56363	B	.;.	.;.	4.851022	0.79284	27.1	0.99439033048274961	0.64670	0.77304	0.37993	D	ALL	0.499010	0.53288	N	0.135563686963298	0.48128	3.029165	0.164224251106483	0.47899	3.013452	0.999999999999996	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.28	4.28	0.50183	2.222000	0.42568	7.248000	0.57921	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	16.904	0.85990	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001535	0.000000	0.001359	0.000000	0.000000	0.008621	0.003125	0.003788	0.05263	1945.83	34	chr3	33114165	.	C	A	1945.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.66;DP=777;ExcessHet=0.119;FS=3.477;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.046;SOR=0.674	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1053,0,1621	17	0	2	0
chr3	38579461	38579461	G	A	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon18:c.C3260T:p.A1087V,SCN5A:NM_001099404:exon18:c.C3263T:p.A1088V,SCN5A:NM_001099405:exon18:c.C3263T:p.A1088V,SCN5A:NM_001160160:exon18:c.C3260T:p.A1087V,SCN5A:NM_001354701:exon18:c.C3260T:p.A1087V,SCN5A:NM_198056:exon18:c.C3263T:p.A1088V	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	.	.	.	.	.	.	.	.	YES	909492	Cardiac_arrhythmia|not_provided	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.106854158	.	.	9.018e-06	0	0	0	0	0	0	6.59e-05	6.5e-06	1	154602	rs778016632	2.055e-06	2.736e-06	1.363e-06	2.754e-06	3.481e-05	5.5e-07	1.5e-07	9.25e-06	4.56e-06	0	0	0	0	0	0	0	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15984	T	0.612	0.16280	T	0.025	0.21781	B	0.038	0.23986	B	0.202723	0.03331	N	1.543990	0.619802	0.32695	D	0.46	0.12951	N	-3.7	0.95663	D	-0.38	0.13418	N	0.156	0.26837	-0.0295	0.81641	T	0.788	0.92815	D	10	0.09685749	0.17404	T	0.106854	0.78266	D	0.232	0.53354	0.307	0.27806	0.617229050736	0.61413	0.4526584610213486	0.45183	0.0327901517294	0.03426	.	.	.	0.381184	0.74356	T	0.0602657	0.59646	T	-0.151209	0.59137	T	0.117385654064531	0.14171	T	0.873813	0.58316	D	0.034759693	0.03961	0.057418093	0.10434	0.034759693	0.03961	0.057418093	0.10433	-4.483	0.30784	T	0.11432342206569455	0.10104	0.073	0.04517	B	.;.;.;.;.;.	.;.;.;.;.;.	1.585523	0.20285	14.68	0.79674545966602095	0.12849	0.47174	0.27924	N	AEFDBHCIJ	0.240115	0.36196	N	-0.526067770702512	0.21241	1.12576	-0.513117213337492	0.21796	1.180826	0.999999999727493	0.74766	0.554377	0.28877	0	0.491513	0.07743	0	0.584781	0.30282	0	0.567892	0.33627	0	.	.	4.42	2.55	0.29757	1.190000	0.31735	3.046000	0.36101	0.672000	0.70159	0.387000	0.26063	1.000000	0.68203	0.340000	0.25432	0.0:0.2153:0.5987:0.186	7.034	0.24160	543	0.72751	Sodium ion transport-associated;.;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated;Sodium ion transport-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1275.83	33	chr3	38579461	.	G	A	1275.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.296;DP=692;ExcessHet=0.119;FS=0.882;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.834;SOR=0.58	GT:AD:DP:GQ:PL	0/1:31,29:60:99:831,0,924	17	0	2	0
chr3	39129193	39129193	T	C	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon14:c.T1895C:p.L632P,TTC21A:NM_001366899:exon15:c.T2042C:p.L681P,TTC21A:NM_001366900:exon15:c.T2018C:p.L673P,TTC21A:NM_145755:exon15:c.T2039C:p.L680P	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.106374452102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.998	0.90584	D	0.921	0.76113	D	0.061825	0.22142	N	0.318910	1	0.81001	D	3.3	0.90472	M	-0.3	0.79761	T	-6.37	0.91184	D	0.923	0.92667	0.424	0.89452	D	0.664	0.88351	D	10	0.91583085	0.90944	D	0.106374	0.78195	D	0.673	0.87917	0.616	0.75000	0.815279306624	0.81353	0.8899980095346787	0.88969	0.74807911618	0.63619	0.556256532669	0.46739	T	0.17826	0.52885	T	0.355799	0.86925	D	0.273304	0.86754	D	0.98775988817215	0.78191	D	0.839616	0.51418	T	0.7615444	0.81545	0.7066331	0.82703	0.7615444	0.81546	0.7066331	0.82704	-14.777	0.95441	D	.	.	0.905	0.85584	P	.;.	.;.	4.011450	0.59186	24.1	0.99856865473304501	0.93548	0.95309	0.64221	D	AEFBI	0.850211	0.76704	D	0.613725205889292	0.74042	6.065947	0.523358486576801	0.69566	5.378599	0.999999271246721	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.85	4.65	0.57626	6.076000	0.70901	6.111000	0.53665	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:0.0:0.1408:0.8592	12.336	0.54390	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2303.33	35	chr3	39129193	.	T	C	2303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.412;DP=838;ExcessHet=0;FS=2.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=2.03;SOR=0.495	GT:AD:DP:GQ:PL	0/1:74,94:168:99:2317,0,2198	18	0	1	0
chr3	41907856	41907856	G	A	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon11:c.C265T:p.P89S,ULK4:NM_001322500:exon12:c.C1171T:p.P391S,ULK4:NM_017886:exon12:c.C1171T:p.P391S	.	438	1063	21	0	0	21	0.00978109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0052	0.00199681	0.0036	0.0010	0.0020	0.0001	0.0011	0.0056	0.0057	0.0010	0.0037645	582	154602	rs184541140	0.0048	0.0048	0.0048	0.0047	0.0056	0.0047	0.0046	0.0055	0.0055	0.0007	0.0026	0.0010	0	0.0017	0.0041	0.0056	0.0045	0.0010	0.0041	0.0041	0.0047	0.0034	0.0069	0.0038	0.0037	0.0064	0.0062	0.0013	0	0.0035	0.0009	0	0.0025	0.0170	0.0069	0.0028	0.0010	0.582	0.05954	T	0.739	0.05000	T	0.013	0.16609	B	0.007	0.12992	B	0.180798	0.17108	N	0.637398	0.526933	0.31943	D	1.8	0.47472	L	0.66	0.64630	T	-0.55	0.20576	N	0.109	0.18512	-1.0464	0.15418	T	0.081	0.32031	T	10	0.0039798915	0.00077	T	.	.	.	0.061	0.17616	.	.	0.429091045357	0.42525	0.35750256836678257	0.35664	0.0361349943124	0.03815	0.299195349216	0.10281	T	0.002107	0.12263	T	-0.517535	0.00455	T	-0.511053	0.21208	T	0.00483710736998527	0.00052	T	0.693931	0.30359	T	0.047248695	0.08045	0.060743336	0.11619	0.04473377	0.07202	0.053627197	0.09068	-2.664	0.07006	T	.	.	0.072	0.04198	B	.;.	.;.	1.862649	0.23660	16.10	0.96882864762041909	0.31465	0.41737	0.26723	N	ALL	0.095910	0.19371	N	-0.369413803255449	0.26565	1.450765	-0.155766020014808	0.33188	1.895802	0.999954336430192	0.48110	0.615465	0.37627	0	0.593476	0.48661	0	0.658983	0.55881	0	0.649648	0.60094	0	.	.	5.68	3.79	0.42757	0.361000	0.20003	1.656000	0.27872	0.676000	0.76740	0.937000	0.32526	1.000000	0.68203	0.974000	0.55675	0.0808:0.1443:0.7748:0.0	9.692	0.39299	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	517.33	34	chr3	41907856	.	G	A	517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.885;DP=689;ExcessHet=0;FS=1.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.63;SOR=0.859	GT:AD:DP:GQ:PL	0/1:31,22:53:99:531,0,769	18	0	1	0
chr3	44500301	44500301	T	C	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.A476G:p.Y159C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0120677420276	.	.	2.511e-05	0	0	0	0	4.565e-05	0	0	1.94e-05	3	154602	rs775843252	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0024	8.31e-06	6.7e-06	0.0015	0.0012	2.987e-05	0	0	0	0	0.0024	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.37230	T	-6.13	0.90100	D	0.238	0.26837	-1.0085	0.27385	T	0.070	0.28609	T	8	0.15161651	0.28655	T	0.012068	0.30309	T	0.044	0.11924	.	.	0.345405024496	0.34151	0.02116559798389852	0.02069	0.0267389081646	0.02732	0.406017869711	0.25905	T	0.132882	0.46324	T	-0.219896	0.18007	T	-0.553642	0.16978	T	0.111309299021064	0.13559	T	.	.	.	0.18092687	0.39238	0.2509347	0.50695	0.18092687	0.39237	0.2509347	0.50694	-7.601	0.58318	D	.	.	0.304	0.53293	B	.;.	.;.	1.587123	0.20305	14.69	0.87476883987597753	0.17255	0.05361	0.11221	N	AEFBCI	0.135076	0.25530	N	-0.628381854553684	0.18095	0.9367146	-0.754098515412646	0.15622	0.8225097	0.00287857700595568	0.09767	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.27	2.08	0.26079	-0.712000	0.05116	-0.315000	0.10009	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.1898:0.1138:0.0:0.6964	3.741	0.08055	323	0.86843	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2575.33	41	chr3	44500301	.	T	C	2575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=915;ExcessHet=0;FS=8.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.316;SOR=0.466	GT:AD:DP:GQ:PL	0/1:94,99:193:99:2589,0,2610	18	0	1	0
chr3	44594390	44594390	C	T	exonic	ZNF660	.	nonsynonymous SNV	ZNF660:NM_173658:exon3:c.C197T:p.T66I	.	355	1165	2	0	0	2	0.000857633	.	.	.	3927900	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00369807080297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245055182	6.156e-06	6.156e-06	8.167e-06	4.125e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	1.656e-05	4.637e-05	0	6.581e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.985	0.02393	T	0.004	0.12183	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	3.17	0.07599	T	0.66	0.02297	N	0.096	0.07673	-0.9222	0.45252	T	0.013	0.04938	T	8	0.03369856	0.01553	T	0.003698	0.08558	T	0.064	0.18567	0.339	0.32979	0.0297737177859	0.01360	0.023939676479290718	0.02344	0.0536122395253	0.05918	0.416641622782	0.27375	T	0.010096	0.09146	T	-0.268975	0.11871	T	-0.624141	0.10863	T	0.025038990184468	0.01278	T	.	.	.	0.03706288	0.04679	0.048624445	0.07261	0.03706288	0.04679	0.048624445	0.07261	-3.206	0.12554	T	.	.	0.198	0.41992	B	.	.	0.609669	0.09781	6.547	0.80057114386106787	0.13025	0.10583	0.16049	N	AEFBCI	0.080661	0.16313	N	-0.871349618923551	0.11528	0.5567928	-0.839742314023742	0.13534	0.7026316	0.00273332911239554	0.09669	0.638212	0.43195	0	0.670034	0.63936	0	0.575934	0.27490	0	0.620846	0.47308	0	.	.	4.46	0.665	0.17066	-0.739000	0.04971	-0.078000	0.12213	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.0:0.5701:0.0:0.4299	8.111	0.30078	326	0.86709	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1587.33	33	chr3	44594390	.	C	T	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.139;DP=749;ExcessHet=0;FS=2.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.255;SOR=0.818	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1601,0,1481	18	0	1	0
chr3	44901672	44901672	G	A	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon7:c.G806A:p.W269X	.	428	1034	59	1	0	61	0.0286519	.	.	YES	1174741	Essential_tremor	MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0084	0.0008	0.0054	0.0001	0.0114	0.0096	0.0177	0.0129	0.0079365	1227	154602	rs139860990	0.0078	0.0079	0.0074	0.0083	0.0359	0.0077	0.0077	0.0319	0.0303	0.0016	0.0072	0.0216	5.038e-05	0.0114	0.0359	0.0070	0.0100	0.0148	0.0079	0.0079	0.0074	0.0084	0.0138	0.0075	0.0074	0.0123	0.0117	0.0013	0.0647	0.0138	0.0213	0.0002	0.0119	0.0408	0.0087	0.0085	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000516	0.43753	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26044	0.79570	D	0.613004	0.97331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.758159	0.95693	35	0.98430627671716242	0.41397	0.94692	0.62003	D	AEFDBI	0.051856	0.09201	N	0.265486187549569	0.54408	3.606505	-0.0550447570393013	0.37272	2.180135	0.999722947169698	0.42220	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.83	1.91	0.24841	5.428000	0.66226	2.333000	0.32207	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1757:0.8243:0.0	12.091	0.53024	314	0.87270	Transglutaminase-like|Transglutaminase-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.035354	0.029891	0.023392	0.000000	0.043103	0.018293	0.011364	0.05263	2102.83	34	chr3	44901672	.	G	A	2102.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.378;DP=1094;ExcessHet=0.119;FS=1.136;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.03;SOR=0.578	GT:AD:DP:GQ:PL	0/1:48,29:77:99:762,0,1399	17	0	2	0
chr3	45547438	45547438	G	A	exonic	LARS2	.	nonsynonymous SNV	LARS2:NM_001368263:exon21:c.G2620A:p.E874K,LARS2:NM_015340:exon22:c.G2620A:p.E874K	Perrault syndrome 4, Autosomal recessive	431	1089	2	0	0	2	0.000917431	.	.	.	229092	Perrault_syndrome_4|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014126,MedGen:C3809105,OMIM:615300,Orphanet:2855|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00922629034206	7.7e-05	0.000399361	0.0003	0.0002	0.0002	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs142215302	0.0002	0.0002	0.0002	0.0002	0.0059	0.0002	0.0002	0.0043	0.0038	5.976e-05	0.0003	0	0	0	0.0059	0.0001	0.0004	0.0007	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	4.816e-05	0	0.0005	0	0	0	0	0.0002	0	0.0015	0.031	0.47320	D	0.054	0.48594	T	0.913	0.50474	P	0.121	0.32300	B	0.008166	0.30981	N	0.371923	0.587627	0.31047	N	1.87	0.49600	L	1.82	0.25018	T	-2.25	0.54702	N	0.332	0.56919	-0.9255	0.44786	T	0.050	0.21417	T	10	0.06568867	0.08898	T	0.009226	0.24249	T	0.095	0.27398	.	.	0.517158968016	0.51359	.	.	0.435120579737	0.43627	0.516972899437	0.41200	T	0.501504	0.82168	D	-0.346595	0.04945	T	-0.371473	0.36718	T	0.0744486916420353	0.09262	T	0.857914	0.54791	D	0.12538211	0.29394	0.15082322	0.35555	0.12538211	0.29394	0.15082322	0.35554	-7.983	0.60954	D	0.16135672937486548	0.19748	0.119	0.24430	B	.;.;.;.;.	.;.;.;.;.	3.791108	0.54572	23.5	0.99843258243071575	0.92316	0.87344	0.46855	D	AEFDBHCI	0.532583	0.55239	D	0.392459568396383	0.61014	4.296894	0.459788798870106	0.65347	4.812427	0.999999859613735	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.6	5.6	0.84997	4.809000	0.62282	7.425000	0.58746	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0743:0.0:0.9257:0.0	12.897	0.57498	563	0.71062	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.014620	0.000000	0.008621	0.000000	0.000000	0.02632	1258.33	33	chr3	45547438	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.66;DP=694;ExcessHet=0;FS=3.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.5;ReadPosRankSum=-0.462;SOR=0.886	GT:AD:DP:GQ:PL	0/1:24,44:68:99:1272,0,599	18	0	1	0
chr3	45901395	45901395	C	T	exonic	CCR9	.	nonsynonymous SNV	CCR9:NM_006641:exon2:c.C571T:p.P191S,CCR9:NM_031200:exon3:c.C607T:p.P203S,CCR9:NM_001256369:exon4:c.C571T:p.P191S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0144950872134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	0.02052	T	0.983	0.02405	T	0.035	0.20614	B	0.099	0.30579	B	0.001796	0.37998	U	0.000000	1	0.81001	D	1.385	0.34509	L	1.16	0.38073	T	-3.74	0.71042	D	0.136	0.14338	-1.0745	0.08452	T	0.072	0.29227	T	10	0.11446488	0.21537	T	0.014495	0.34657	T	0.082	0.23913	0.65	0.78753	0.418964662724	0.41514	0.3779897638799152	0.37713	0.524358026389	0.50121	0.341315895319	0.16635	T	0.302854	0.67523	T	-0.151438	0.28086	T	-0.455306	0.27111	T	0.206686899065971	0.20779	T	0.674133	0.28269	T	0.22794214	0.45505	0.28275362	0.54265	0.22794214	0.45505	0.28275362	0.54264	-6.387	0.49408	T	.	.	0.182	0.39528	B	.;.;.	.;.;.	1.997835	0.25383	16.74	0.61755238450143668	0.06789	0.86239	0.45481	D	AEFBI	0.285298	0.39796	N	-0.695045740181566	0.16162	0.8210003	-0.659402101277974	0.17979	0.9584587	0.999899738297811	0.45129	0.634777	0.41761	0	0.643519	0.57511	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.51	1.73	0.23565	3.245000	0.51106	0.218000	0.16040	-0.257000	0.07002	1.000000	0.71638	0.833000	0.27230	0.655000	0.32830	0.0:0.7688:0.0:0.2312	9.512	0.38249	484	0.77165	.;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	34	chr3	45901395	.	C	T	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.342;DP=877;ExcessHet=0;FS=149.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.128;SOR=7.743	GT:AD:DP:GQ:PL	0/1:199,47:246:53:53,0,5282	18	0	1	0
chr3	46998748	46998748	G	T	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon22:c.G3151T:p.D1051Y,NBEAL2:NM_015175:exon23:c.G3253T:p.D1085Y	Gray platelet syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0363089984163	.	.	2.966e-05	0	0	0	0	5.755e-05	0	0	1.29e-05	2	154602	rs772177163	8.425e-06	1.231e-05	6.941e-06	9.942e-06	1.1e-05	4.49e-06	3.55e-06	5.86e-06	4.63e-06	0	0	0	0	0	0	1.1e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.998	0.73220	D	0.921	0.65636	D	0.007977	0.01188	N	2.433060	0.759519	0.81001	D	2.365	0.68172	M	1.22	0.37052	T	-6.47	0.91479	D	0.732	0.73285	-0.9443	0.41927	T	0.217	0.57889	T	10	0.7884839	0.78453	D	0.036309	0.56907	D	0.308	0.62947	0.491	0.57732	0.405336283486	0.40149	0.567451490773696	0.56673	0.83129568198	0.67629	0.554537296295	0.46497	T	0.158767	0.50192	T	0.0957348	0.63828	D	-0.10026	0.63378	T	0.996840834617615	0.90201	D	0.908909	0.67748	D	0.4924744	0.66650	0.51576996	0.72022	0.4924744	0.66651	0.51576996	0.72022	-12.175	0.85693	D	0.535564732384791	0.60588	0.521	0.65528	A	.	.	5.080172	0.84782	28.4	0.99493696257778308	0.67630	0.90548	0.51815	D	ALL	0.507795	0.53794	D	0.661516960083434	0.77114	6.613165	0.643162305290491	0.78103	6.809303	0.999999999999999	0.74766	0.839682	0.99964	0	0.827368	0.99789	0	0.736553	0.94036	0	0.636	0.56748	0	.	.	5.05	5.05	0.67566	5.160000	0.64774	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.694000	0.33958	0.0872:0.0:0.9128:0.0	10.748	0.45393	26	0.98304	Domain of unknown function DUF4704	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1415.83	33	chr3	46998748	.	G	T	1415.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.57;DP=716;ExcessHet=0.119;FS=1.494;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:24,24:48:99:690,0,606	17	0	2	0
chr3	51989026	51989026	G	A	exonic	ABHD14A-ACY1;ACY1	.	nonsynonymous SNV	ACY1:NM_001198896:exon13:c.G962A:p.R321H,ACY1:NM_001198897:exon13:c.G983A:p.R328H,ACY1:NM_001198898:exon14:c.G1073A:p.R358H,ACY1:NM_000666:exon15:c.G1178A:p.R393H,ACY1:NM_001198895:exon15:c.G1178A:p.R393H,ABHD14A-ACY1:NM_001316331:exon17:c.G1448A:p.R483H	.	0	1519	3	0	0	3	0.000986518	.	.	.	33153	not_specified|not_provided|Aminoacylase_1_deficiency|ACY1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012368,MedGen:C1835922,OMIM:609924,Orphanet:137754|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.322	0.0221070693253	0.0046	0.00279553	0.0040	0.0006	0.0012	0.0003	0.0065	0.0061	0.0033	0.0004	0.0040556	627	154602	rs121912701	0.0042	0.0042	0.0044	0.0040	0.0047	0.0041	0.0041	0.0046	0.0046	0.0007	0.0015	0.0075	7.557e-05	0.0056	0.0016	0.0047	0.0039	0.0003	0.0034	0.0034	0.0036	0.0031	0.0056	0.0031	0.0030	0.0051	0.0049	0.0009	0	0.0014	0.0078	0	0.0040	0.0034	0.0056	0.0019	0.0004	0.271	0.47320	T	0.183	0.45110	T	0.987	0.61912	D	0.79	0.57710	P	0.127522	0.18764	N	0.555850	1.63594e-06	0.08975	A	0.47	0.13106	N	0.58	0.54149	T	-1.37	0.42957	N	0.706	0.70966	-0.7520	0.57830	T	0.122	0.42441	T	9	0.06689611	0.09244	T	0.022107	0.44964	T	0.322	0.64420	.	.	0.411265580357	0.40742	0.5421054336288056	0.54135	0.623418994379	0.63515	0.280049979687	0.07499	T	0.216745	0.57900	T	-0.357922	0.04248	T	-0.276518	0.47161	T	0.0429165743705527	0.04221	T	0.79972	0.46506	T	0.17550808	0.38413	0.090769485	0.21305	0.17550808	0.38413	0.090769485	0.21304	-5.584	0.46514	T	0.13250981941009074	0.14135	0.071	0.13690	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.546571	0.19829	14.46	0.99407731860301507	0.63122	0.13376	0.17820	N	AEFDBHCI	0.519045	0.54448	D	-0.662005241832962	0.17111	0.877753	-0.796424197371175	0.14583	0.7626883	0.999998325056083	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.37	-0.979	0.09751	0.093000	0.14925	-2.115000	0.04190	-1.796000	0.00631	0.000000	0.06391	0.000000	0.08366	0.447000	0.27828	0.5807:0.0:0.4193:0.0	11.480	0.49568	173	0.93306	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.05263	3036.83	44	chr3	51989026	.	G	A	3036.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.004;DP=932;ExcessHet=0.119;FS=2.15;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.467;SOR=0.56	GT:AD:DP:GQ:PL	0/1:84,62:146:99:1550,0,2317	17	0	2	0
chr3	58130751	58130751	C	G	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon25:c.C4233G:p.F1411L,FLNB:NM_001164318:exon25:c.C4233G:p.F1411L,FLNB:NM_001164319:exon25:c.C4233G:p.F1411L,FLNB:NM_001457:exon25:c.C4233G:p.F1411L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	367365	not_provided|FLNB-Related_Spectrum_Disorders|FLNB-related_disorder	MedGen:C3661900|MedGen:CN239400|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.820	0.332673060182	0.0004	0.000199681	0.0007	0	0.0005	0	0	0.0011	0	0.0002	0.000608	94	154602	rs143831841	0.0006	0.0006	0.0005	0.0006	0.0045	0.0005	0.0005	0.0032	0.0027	8.965e-05	0.0004	0.0005	0	0	0.0045	0.0006	0.0009	0.0001	0.0006	0.0006	0.0005	0.0007	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0004	0.0012	0	0	0.0034	0.0011	0.0028	0.0004	0.003	0.78490	D	0.002	0.79402	D	0.995	0.67487	D	0.982	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.5	0.92762	M	-2.32	0.87830	D	-5.75	0.88224	D	0.868	0.90476	0.935	0.96181	D	0.857	0.95231	D	10	0.6121359	0.67503	D	0.332673	0.91795	D	0.820	0.94238	0.835	0.94294	0.951054475844	0.95053	0.8061838995509899	0.80573	0.975079256264	0.73533	0.809175550938	0.83366	D	0.844054	0.96389	D	0.105612	0.64894	D	0.338395	0.89852	D	0.115772243935204	0.14012	T	0.983368	0.94382	D	0.7385407	0.80209	0.77409256	0.86669	0.83847	0.86501	0.75830936	0.85719	-10.551	0.77139	D	0.7519093213558078	0.83397	0.987	0.93037	P	.;.;.;.;.	.;.;.;.;.	4.243811	0.64366	24.7	0.99904909905401584	0.97576	0.94613	0.61738	D	AEFBCI	0.643741	0.62025	D	0.849379135431809	0.89074	9.824005	0.775540825754157	0.88046	9.437694	0.999999999999914	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.51	5.51	0.81769	2.747000	0.47151	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.431	0.94764	424	0.81215	.;.;.;.;.	.	.	.	.	.	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	0.005556	0.000000	0.009537	0.000000	0.000000	0.008621	0.012195	0.003817	0.05263	1576.83	34	chr3	58130751	.	C	G	1576.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=737;ExcessHet=0.119;FS=0.706;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.395;SOR=0.811	GT:AD:DP:GQ:PL	0/1:24,28:52:99:692,0,631	17	0	2	0
chr3	58508985	58508985	C	G	exonic	ACOX2	.	nonsynonymous SNV	ACOX2:NM_003500:exon14:c.G1891C:p.D631H	Bile acid synthesis defect, congenital, 6, Autosomal recessive	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.176084945929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383456151	4.104e-06	4.104e-06	5.445e-06	2.75e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	2.698e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000007	0.62929	D	0.000000	1	0.81001	D	3.745	0.94976	H	-1.92	0.84773	D	-6.53	0.91741	D	0.971	0.98167	0.873	0.95317	D	0.829	0.94260	D	10	0.9927707	0.99812	D	0.176085	0.85196	D	0.869	0.96059	0.964	0.99641	0.971999218585	0.97169	0.8208016460682747	0.82037	0.77212903692	0.64820	0.610770046711	0.54425	T	0.508316	0.82566	D	0.305527	0.83403	D	0.38262	0.91523	D	0.994656324386597	0.86077	D	0.933407	0.75038	D	0.88854957	0.90383	0.80887896	0.88829	0.88854957	0.90384	0.80887896	0.88830	-10.578	0.77294	D	0.7498283870452334	0.83191	0.918	0.84037	P	.;.	.;.	5.036345	0.83793	28.1	0.99546469917897762	0.70836	0.94398	0.61038	D	AEFBI	0.851880	0.76876	D	0.88083942576396	0.90790	10.56703	0.796853253063265	0.89574	10.031	0.999998726744868	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	5.370000	0.65897	7.562000	0.60503	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	19.289	0.94076	646	0.63441	Acyl-CoA oxidase, C-terminal;Acyl-CoA oxidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2021.83	37	chr3	58508985	.	C	G	2021.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=794;ExcessHet=0.119;FS=3.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.429;SOR=0.978	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1064,0,871	17	0	2	0
chr3	62273767	62273767	A	C	exonic	PTPRG	.	nonsynonymous SNV	PTPRG:NM_001375471:exon22:c.A3301C:p.N1101H,PTPRG:NM_002841:exon23:c.A3388C:p.N1130H	.	429	1088	4	1	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00512190765296	0.0002	.	0.0002	9.61e-05	0	0	0	0.0002	0	0.0005	0.0001552	24	154602	rs141205324	0.0001	0.0001	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	8.947e-05	0	0	0	0.0047	8.725e-05	0.0003	0.0005	6.564e-05	6.561e-05	6.423e-05	6.711e-05	0.0004	3.513e-05	2.614e-05	7.304e-05	3.034e-05	0	0	0.0001	0	0	0	0.0068	4.41e-05	0.0005	0.0004	0.04	0.42199	D	0.064	0.44905	T	0.001	0.09854	B	0.009	0.14300	B	0.053615	0.22793	N	0.542921	1	0.08975	N	1.24	0.30952	L	2.75	0.11622	T	-1.33	0.33197	N	0.348	0.39760	-1.0169	0.24722	T	0.025	0.10464	T	10	0.08548468	0.14435	T	0.005122	0.13001	T	0.048	0.13305	.	.	0.388970301349	0.38507	0.273502990090942	0.27263	0.199183699879	0.22318	0.308757036924	0.11719	T	0.240672	0.60904	T	-0.515515	0.00467	T	-0.650318	0.08931	T	0.0499970242381096	0.05499	T	0.637136	0.26451	T	0.18822324	0.40311	0.08977211	0.21013	0.18822324	0.40311	0.08977211	0.21012	-7.404	0.56933	T	.	.	0.067	0.04041	B	.;.	.;.	2.198271	0.28035	17.66	0.99048042539665548	0.51185	0.73815	0.36105	D	AEFBI	0.139940	0.26170	N	-0.100292580412695	0.37380	2.173892	0.108062009420303	0.44959	2.767822	0.924089082630977	0.26767	0.706298	0.61202	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	3.442000	0.52663	4.591000	0.43958	0.756000	0.94297	0.990000	0.36992	0.169000	0.23327	0.997000	0.79791	1.0:0.0:0.0:0.0	16.613	0.84745	585	0.69300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.014620	0.000000	0.000000	0.003049	0.000000	0.02632	1225.33	33	chr3	62273767	.	A	C	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.044;DP=733;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.131;SOR=1.17	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1239,0,1257	18	0	1	0
chr3	66383098	66383098	G	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon8:c.C1373T:p.T458M,LRIG1:NM_001377348:exon8:c.C1346T:p.T449M,LRIG1:NM_001377349:exon8:c.C1091T:p.T364M,LRIG1:NM_001377344:exon14:c.C2300T:p.T767M,LRIG1:NM_001377345:exon15:c.C1595T:p.T532M,LRIG1:NM_001377346:exon15:c.C1595T:p.T532M,LRIG1:NM_015541:exon15:c.C2375T:p.T792M	.	434	1087	1	0	0	1	0.00045977	.	.	.	2395016	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.455	0.041822158842	.	0.000399361	9.891e-05	0	8.642e-05	0	0	8.998e-05	0	0.0003	9.7e-05	15	154602	rs202007714	0.0001	0.0001	8.848e-05	0.0001	0.0019	9.091e-05	8.598e-05	0.0011	0.0008	0.0002	0	0	0.0001	1.872e-05	0.0019	7.104e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.709e-05	9.535e-05	6.941e-05	0.0002	0	0.0003	0	0	0	0	0.0001	0.0005	0	0.055	0.39334	T	0.0	0.92824	D	0.517	0.57185	P	0.136	0.54270	B	0.000000	0.84330	D	0.049363	0.999988	0.81001	D	2.8	0.81625	M	-0.32	0.69413	T	-4.99	0.83027	D	0.666	0.71498	-0.2276	0.76950	T	0.377	0.73468	T	10	0.33841413	0.50946	T	0.041822	0.60137	D	0.455	0.75415	.	.	0.512013392622	0.50841	0.45738412920777743	0.45656	0.133136074667	0.14996	0.535939097404	0.43872	T	0.392377	0.75206	T	-0.00885143	0.50426	T	0.0600276	0.74246	D	0.429542064666748	0.30043	T	.	.	.	0.37753168	0.59137	0.30251586	0.56283	0.37753168	0.59137	0.30251586	0.56282	-5.203	0.44224	T	.	.	0.161	0.44643	B	.;.	.;.	3.543155	0.49775	22.8	0.99867200004572965	0.94547	0.95845	0.66400	D	AEFDGBHCI	0.895289	0.83514	D	0.393818302857874	0.61088	4.305173	0.404868599595514	0.61868	4.393026	0.999999999999797	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.88	5.01	0.66477	8.039000	0.89191	8.449000	0.77214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.1447:0.8552:0.0	16.501	0.84101	801	0.44448	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2451.33	35	chr3	66383098	.	G	A	2451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=814;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.094;SOR=0.62	GT:AD:DP:GQ:PL	0/1:96,92:188:99:2465,0,2210	18	0	1	0
chr3	73383966	73383966	G	A	exonic	PDZRN3	.	nonsynonymous SNV	PDZRN3:NM_001303139:exon8:c.C1694T:p.P565L,PDZRN3:NM_001303140:exon8:c.C1571T:p.P524L,PDZRN3:NM_001303141:exon8:c.C1766T:p.P589L,PDZRN3:NM_001303142:exon8:c.C1751T:p.P584L,PDZRN3:NM_015009:exon10:c.C2600T:p.P867L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.146180323085	.	0.000199681	0.0002	0	0	0	0	0	0	0.0016	0.0001617	25	154602	rs570021330	9.618e-05	9.85e-05	4.947e-05	0.0001	0.0014	8.296e-05	7.806e-05	0.0012	0.0011	0	4.569e-05	0	0	0	0.0007	9.051e-06	8.381e-05	0.0014	4.597e-05	4.594e-05	3.854e-05	5.374e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.002	0.72154	D	0.022	0.57587	D	1.0	0.90584	D	0.999	0.92359	D	0.183806	0.17031	N	0.633028	1	0.81001	D	2.84	0.82582	M	-1.56	0.81815	D	-3.54	0.74348	D	0.642	0.67564	0.504	0.90601	D	0.733	0.90862	D	10	0.06531763	0.08793	T	0.14618	0.82832	D	0.490	0.77720	0.21	0.12781	0.819461315173	0.81775	0.38738101722940943	0.38653	0.526887597323	0.50308	0.738758385181	0.72790	T	0.236913	0.60448	T	-0.0373527	0.46340	T	0.14349	0.79770	D	0.222085810509812	0.21567	T	0.894311	0.63503	D	0.17058924	0.37642	0.2173348	0.46395	0.17058924	0.37642	0.2173348	0.46394	-4.861	0.35294	T	0.6523394318825	0.72467	0.172	0.48593	B	.;.;.;.	.;.;.;.	2.969450	0.39573	21.0	0.99848054244582563	0.92750	0.95887	0.66581	D	AEFDBI	0.737893	0.68294	D	0.610657484214588	0.73848	6.033606	0.604381299166341	0.75257	6.278787	0.999999994103415	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.4	5.4	0.77957	4.513000	0.60194	9.762000	0.81515	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.537000	0.29868	0.0:0.0:1.0:0.0	18.795	0.91956	969	0.06854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2379.33	34	chr3	73383966	.	G	A	2379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.009;DP=786;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=-1.722;SOR=0.634	GT:AD:DP:GQ:PL	0/1:58,82:140:99:2393,0,1633	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,81:137:99:0|1:75730450_C_T:3227,0,2108:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,14:89:99:.:.:314,0,3071:.	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,48:147:99:.:.:929,0,3863:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,57:148:99:.:.:2111,0,3620:.	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,46:143:99:0|1:75736920_C_A:1640,0,3929:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,47:148:99:0|1:75736920_C_A:1661,0,4074:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:105,55:160:99:1166,0,3082	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:100,64:164:99:1624,0,3093	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:118,90:208:99:.:.:2085,0,3631:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,86:206:99:0|1:75737092_C_T:3230,0,4780:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,86:206:99:0|1:75737092_C_T:3230,0,4780:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,87:209:99:0|1:75737092_C_T:3286,0,4861:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,80:192:99:0|1:75737092_C_T:3022,0,4462:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,56:158:99:0|1:75737092_C_T:2044,0,4095:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,14:107:99:0|1:75737228_T_C:287,0,3838:75737228	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,163:244:99:.:.:6315,0,2507:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,153:252:99:0|1:75737590_A_G:6004,0,3669:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,158:264:99:0|1:75737590_A_G:6315,0,3975:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,161:269:99:0|1:75737590_A_G:6435,0,4050:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,161:269:99:0|1:75737590_A_G:6435,0,4050:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,159:267:99:0|1:75737590_A_G:6351,0,4056:75737590	0	0	19	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,81:251:99:0|1:75737881_T_C:2574,0,6813:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,69:240:99:0|1:75737881_T_C:2256,0,6932:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,64:232:99:0|1:75737881_T_C:2146,0,6829:75737881	1	0	18	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4037.35	240	chr3	75737947	.	CCT	C	4037.35	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.249;DP=3312;ExcessHet=2.0135;FS=24.339;InbreedingCoeff=-0.1874;MLEAC=6;MLEAF=0.158;MQ=57.02;MQRankSum=-11;QD=4.19;ReadPosRankSum=0.508;SOR=2.248	GT:AD:DP:GQ:PL	0/1:187,14:201:25:25,0,7631	13	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,30:201:99:0|1:75737994_T_C:733,0,7046:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,23:181:99:0|1:75737994_T_C:490,0,6565:75737994	8	0	10	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	1843.57	302	chr3	75738071	.	A	G	1843.57	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.893;DP=3659;ExcessHet=2.9153;FS=8.947;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.194;MQ=57.68;MQRankSum=-9.963;QD=1.29;ReadPosRankSum=-1.839;SOR=1.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,19:165:99:0|1:75737994_T_C:358,0,6073:75737994	11	0	7	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-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	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	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	.	.	.	.	.	.	.	.	0.1111	1194.93	268	chr3	75738074	.	G	A	1194.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.911;DP=3462;ExcessHet=0.7564;FS=13.466;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.6;MQRankSum=-9.806;QD=1.67;ReadPosRankSum=-2.295;SOR=2.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,16:155:99:0|1:75737994_T_C:253,0,5788:75737994	14	0	4	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	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	.	.	.	.	.	.	.	.	0.1111	969.93	268	chr3	75738077	.	A	C	969.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.037;DP=3428;ExcessHet=0.7564;FS=15.621;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.63;MQRankSum=-9.456;QD=1.39;ReadPosRankSum=-2.301;SOR=2.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,14:152:99:0|1:75737994_T_C:172,0,5752:75737994	14	0	4	1
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G,ZNF717:NM_001290208:exon5:c.A1523G:p.E508G,ZNF717:NM_001290209:exon5:c.A1373G:p.E458G,ZNF717:NM_001324027:exon5:c.A1523G:p.E508G	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	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	.	.	.	.	.	.	.	.	0.05263	264.83	249	chr3	75738100	.	T	C	264.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.181;DP=3200;ExcessHet=0.119;FS=21.392;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-10.54;QD=1;ReadPosRankSum=-3.038;SOR=3.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,12:143:99:0|1:75737994_T_C:110,0,5465:75737994	17	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:101,42:143:99:789,0,2838	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1129,0,1404	1	0	18	0
chr3	98354007	98354007	G	A	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.G154A:p.E52K	.	428	1092	2	0	0	2	0.000914913	.	.	.	2375524	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00146450042141	0.0005	.	0.0008	0	0.0002	0	0.0012	0.0010	0.0022	0.0011	0.0006598	102	154602	rs139874815	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	8.961e-05	8.944e-05	0	0	0.0016	0.0007	0.0007	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0003	0.0005	0.0004	0.0001	0	0.0001	0	0	0.0012	0	0.0006	0.0005	0.0010	0.023	0.48186	D	0.003	0.76473	D	0.01	0.15535	B	0.021	0.19346	B	0.005811	0.32491	U	0.000000	1	0.08975	N	1.36	0.34107	L	5.31	0.01086	T	-3.03	0.62747	D	0.103	0.08646	-0.9694	0.37324	T	0.005	0.01797	T	10	0.022303313	0.00554	T	0.001465	0.02215	T	0.095	0.27398	.	.	0.143124449307	0.13826	0.28674312363362076	0.28587	0.00840729258209	0.00763	0.262499809265	0.05191	T	0.010234	0.09261	T	-0.551468	0.00286	T	-0.610474	0.11947	T	0.0227498983911667	0.00994	T	0.108289	0.00809	T	0.14042582	0.32399	0.16351962	0.37929	0.14042582	0.32399	0.16351962	0.37928	-6.532	0.50533	T	.	.	0.255	0.48968	B	.	.	1.733287	0.22059	15.46	0.97654391117581552	0.35155	0.08655	0.14553	N	AEFI	0.067537	0.13282	N	-0.756312512921483	0.14461	0.720604	-0.780418058395976	0.14975	0.7852814	1.67985311817997E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	3.9	0.44240	0.427000	0.21098	.	.	-0.888000	0.02403	0.001000	0.13787	0.785000	0.26813	0.000000	0.00833	0.1889:0.0:0.8111:0.0	7.681	0.27680	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3056.33	37	chr3	98354007	.	G	A	3056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=857;ExcessHet=0;FS=3.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=13.17;ReadPosRankSum=0.84;SOR=0.954	GT:AD:DP:GQ:PL	0/1:120,112:232:99:3070,0,3173	18	0	1	0
chr3	100320904	100320904	C	G	exonic	TBC1D23	.	nonsynonymous SNV	TBC1D23:NM_018309:exon17:c.C1906G:p.P636A,TBC1D23:NM_001199198:exon18:c.C1951G:p.P651A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.037891471475	.	.	4.145e-05	0	0	0	0	1.508e-05	0.0011	0.0002	3.88e-05	6	154602	rs766251210	3.423e-05	3.42e-05	2.452e-05	4.404e-05	0.0005	2.634e-05	2.377e-05	0.0002	0.0002	0	2.239e-05	0	0	0	0.0005	1.26e-05	6.629e-05	0.0003	1.972e-05	1.969e-05	1.286e-05	2.688e-05	0.0002	5.24e-06	2.45e-06	.	.	2.41e-05	0	0	0	0.0002	0	0	1.471e-05	0	0	0.144	0.26629	T	0.174	0.30045	T	0.99	0.63424	D	0.857	0.61067	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.545	0.39105	L	1.11	0.39781	T	-5.17	0.85397	D	0.924	0.92784	-0.7784	0.56392	T	0.221	0.58421	T	9	0.7353759	0.74583	D	0.037891	0.57891	D	0.283	0.60100	0.328	0.31196	0.543165868402	0.53969	0.6300774595900699	0.62941	0.863152698956	0.69054	0.772356033325	0.77778	T	0.296151	0.66879	T	-0.107345	0.35206	T	-0.0859934	0.64462	T	0.472842514514923	0.31635	T	0.970803	0.89999	D	0.40703183	0.61217	0.33247527	0.59095	0.47094637	0.65349	0.36346325	0.61732	-11.101	0.80209	D	.	.	0.870	0.81952	P	.;.;.	.;.;.	4.759487	0.76940	26.6	0.99621499664899071	0.75473	0.99015	0.89987	D	AEFDBHI	0.844695	0.76164	D	0.695733208976983	0.79352	7.059743	0.703713649240825	0.82661	7.822541	0.999999999834125	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.25	5.25	0.73169	7.452000	0.79743	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.208	0.93728	504	0.75712	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	623.33	27	chr3	100320904	.	C	G	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=695;ExcessHet=0;FS=6.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.601;SOR=1.341	GT:AD:DP:GQ:PL	0/1:44,28:72:99:637,0,1071	18	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,16:35:99:.:.:135,0,194:.	7	0	11	1
chr3	101849911	101849911	C	A	exonic	NFKBIZ	.	nonsynonymous SNV	NFKBIZ:NM_031419:exon1:c.C283A:p.Q95K	.	438	1082	2	0	0	2	0.000923361	.	.	.	3214670	NFKBIZ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.111454458825	.	.	0.0011	0	0	0	.	0.0031	0	0.0007	0.0002652	41	154602	rs779117101	0.0039	0.0036	0.0040	0.0038	0.0046	0.0038	0.0038	0.0045	0.0044	0.0005	0.0006	0.0004	0	0.0016	0.0025	0.0046	0.0022	0.0010	0.0024	0.0024	0.0025	0.0023	0.0037	0.0022	0.0021	0.0033	0.0032	0.0007	0.0363	0.0010	0.0006	0	0.0024	0	0.0037	0.0005	0.0010	1.0	0.17881	T	0.302	0.32891	T	0.002	0.09854	B	0.003	0.08700	B	0.464394	0.04888	N	1.442940	1	0.18878	N	0	0.06538	N	0.7	0.51474	T	-1.11	0.28703	N	0.05	0.02366	-1.0180	0.24366	T	0.071	0.29001	T	10	0.0035072267	0.00063	T	0.111454	0.78924	D	0.050	0.13987	.	.	0.271610670623	0.26767	0.041503845988275945	0.04095	0.296176561892	0.32004	0.714493870735	0.69245	T	0.021547	0.44778	T	-0.438671	0.01317	T	-0.402493	0.33096	T	0.0268270086750162	0.01519	T	0.640436	0.25296	T	0.15036616	0.34235	0.0959983	0.22791	0.15036616	0.34235	0.0959983	0.22790	-3.516	0.16657	T	.	.	0.138	0.30049	B	.;.;.	.;.;.	1.598825	0.20445	14.75	0.92025055095039776	0.21364	0.10914	0.16280	N	ALL	0.042434	0.06585	N	-0.78864551197682	0.13605	0.6714519	-0.705969767649621	0.16812	0.8911254	0.999999999983678	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.33	1.19	0.20120	0.785000	0.26491	0.894000	0.22496	0.448000	0.21234	0.070000	0.22072	0.002000	0.18203	0.756000	0.36000	0.0:0.5751:0.3285:0.0964	7.234	0.25234	875	0.30485	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	211.34	7	chr3	101849911	.	C	A	211.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.467;DP=285;ExcessHet=0;FS=2.158;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.493;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,8:15:99:225,0,196	18	0	1	0
chr3	105524427	105524427	A	C	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon3:c.A313C:p.I105L,ALCAM:NM_001243281:exon3:c.A313C:p.I105L,ALCAM:NM_001243283:exon3:c.A313C:p.I105L,ALCAM:NM_001627:exon3:c.A313C:p.I105L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0188285542578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.894	0.02459	T	0.288	0.92824	T	0.993	0.65571	D	0.987	0.77487	D	0.000000	0.84330	D	0.050313	0.99993	0.51612	D	0.83	0.20963	L	0.04	0.62051	T	-0.04	0.07590	N	0.561	0.58543	-0.7717	0.56764	T	0.253	0.62269	T	10	0.31940135	0.49327	T	0.018829	0.41019	T	0.220	0.51569	0.422	0.46529	0.516939936371	0.51336	0.7567292228760127	0.75620	0.252438216393	0.27810	0.613391876221	0.54796	T	0.106294	0.41752	T	0.0498217	0.58320	T	-0.166211	0.57788	T	0.581144273281097	0.35663	D	0.918208	0.70605	D	0.3584692	0.57718	0.2214508	0.46955	0.3584692	0.57719	0.2214508	0.46954	-3.115	0.11867	T	.	.	0.146	0.32709	B	.;.;.	.;.;.	3.333471	0.45896	22.2	0.89635341741724328	0.18968	0.92984	0.57033	D	AEFBI	0.733335	0.67980	D	0.333997140088821	0.57900	3.95944	0.408636410053289	0.62101	4.420119	0.999999998284012	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	4.696000	0.61460	11.245000	0.90552	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.134	0.81276	636	0.64483	Immunoglobulin V-set domain|Immunoglobulin subtype;.;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1008.33	34	chr3	105524427	.	A	C	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.035;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-0.784;SOR=0.735	GT:AD:DP:GQ:PL	0/1:76,47:123:99:1022,0,1888	18	0	1	0
chr3	120335948	120335948	T	C	exonic	LRRC58	.	nonsynonymous SNV	LRRC58:NM_001099678:exon2:c.A506G:p.E169G	.	.	.	.	.	.	.	.	.	.	.	2824844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.409	0.0770612567251	0.0049	0.00159744	0.0035	0.0018	0.0012	0	0.0024	0.0056	0.0075	6.594e-05	0.0032794	507	154602	rs140152656	0.0046	0.0048	0.0048	0.0044	0.0057	0.0045	0.0045	0.0055	0.0055	0.0007	0.0013	0.0003	0	0.0024	0.0002	0.0057	0.0037	4.768e-05	0.0031	0.0032	0.0034	0.0029	0.0056	0.0029	0.0028	0.0051	0.0050	0.0013	0	0.0011	0.0003	0	0.0021	0	0.0056	0.0019	0.0002	0.006	0.61437	D	0.083	0.41405	T	0.948	0.53620	P	0.82	0.59072	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.92	0.51302	L	0.26	0.59314	T	-4.78	0.80510	D	0.84	0.83576	-0.5475	0.66881	T	0.244	0.61225	T	10	0.05185336	0.05129	T	0.077061	0.72681	D	0.409	0.72099	.	.	0.852457279734	0.85104	0.7024748587043665	0.70188	2.08303156752	0.94650	0.512126088142	0.40520	T	0.119172	0.44050	T	-0.0414089	0.45739	T	0.17414	0.81653	D	0.0322589908715296	0.02349	T	0.946905	0.79612	D	0.4775878	0.65754	0.41157064	0.65384	0.4775878	0.65755	0.41157064	0.65384	-6.358	0.49180	T	.	.	0.467	0.63023	A	.	.	4.872015	0.79818	27.2	0.99902879289048874	0.97426	0.97887	0.77878	D	AEFBI	0.779062	0.71137	D	0.638542219768947	0.75629	6.339894	0.629284189008744	0.77077	6.610283	0.999993081195845	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.32	5.32	0.75377	7.097000	0.76621	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	13.011	0.58139	781	0.47532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	759.33	36	chr3	120335948	.	T	C	759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.78;DP=677;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.73;SOR=0.926	GT:AD:DP:GQ:PL	0/1:26,27:53:99:773,0,728	18	0	1	0
chr3	129464694	129464694	G	-	exonic	IFT122	.	frameshift deletion	IFT122:NM_052990:exon5:c.320delG:p.N108Tfs*8,IFT122:NM_001280546:exon6:c.26delG:p.N10Tfs*8,IFT122:NM_018262:exon7:c.476delG:p.N160Tfs*8,IFT122:NM_052989:exon7:c.476delG:p.N160Tfs*8,IFT122:NM_001280541:exon8:c.629delG:p.N211Tfs*8,IFT122:NM_001280545:exon8:c.26delG:p.N10Tfs*8,IFT122:NM_052985:exon8:c.629delG:p.N211Tfs*8	Cranioectodermal dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2091.29	37	chr3	129464693	.	CG	C	2091.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.36;ReadPosRankSum=-1.403;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,54:108:99:0|1:129464693_CG_C:2105,0,2084:129464693	18	0	1	0
chr3	129464697	129464698	AC	-	exonic	IFT122	.	frameshift deletion	IFT122:NM_052990:exon5:c.323_324del:p.N108Kfs*32,IFT122:NM_001280546:exon6:c.29_30del:p.N10Kfs*32,IFT122:NM_018262:exon7:c.479_480del:p.N160Kfs*32,IFT122:NM_052989:exon7:c.479_480del:p.N160Kfs*40,IFT122:NM_001280541:exon8:c.632_633del:p.N211Kfs*32,IFT122:NM_001280545:exon8:c.29_30del:p.N10Kfs*40,IFT122:NM_052985:exon8:c.632_633del:p.N211Kfs*40	Cranioectodermal dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2088.29	37	chr3	129464696	.	AAC	A	2088.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.518;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-1.381;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,54:109:99:0|1:129464693_CG_C:2102,0,2119:129464693	18	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	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	.	.	.	.	.	.	.	.	0.1875	5712.42	63	chr3	130421335	.	G	A	5712.42	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,22:69:99:0|1:130421335_G_A:421,0,1295:130421335	10	0	6	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,13:66:98:0|1:130421335_G_A:98,0,1535:130421335	3	0	13	3
chr3	143989719	143989719	A	G	exonic	DIPK2A	.	nonsynonymous SNV	DIPK2A:NM_001134470:exon3:c.A544G:p.K182E,DIPK2A:NM_001363944:exon3:c.A457G:p.K153E,DIPK2A:NM_173552:exon3:c.A1171G:p.K391E	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0115960158139	0.0002	0.000199681	0.0005	0	0.0003	0	0	0.0008	0.0022	0.0005	0.0004722	73	154602	rs151253605	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	5.974e-05	0.0004	0.0091	0	0	0.0007	0.0001	0.0011	0.0007	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	8.992e-05	0	0	6.532e-05	0.0089	0	0	0	0.0001	0.0005	0.0006	0.106	0.30515	T	0.313	0.57104	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	.	.	.	1.44	0.32722	T	-0.57	0.22727	N	0.493	0.54234	-1.0651	0.10526	T	0.098	0.36728	T	10	0.0083890855	0.00190	T	0.011596	0.29387	T	0.122	0.33800	.	.	0.50557994651	0.50197	0.6903090311022394	0.68970	1.06356656184	0.76555	.	.	.	.	.	.	-0.186769	0.22734	T	-0.145263	0.59660	T	0.0398063630384064	0.03654	T	0.872913	0.58047	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.19438	B	.;.;.;.	.;.;.;.	3.191302	0.43364	21.7	0.99632317616514421	0.76142	0.94733	0.62143	D	AEFDBCIJ	0.859690	0.77741	D	0.31162719972725	0.56745	3.839729	0.429427229917585	0.63405	4.573684	0.999999999932966	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.001000	0.76051	9.341000	0.80216	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.348	0.83004	934	0.15400	FAM69, protein-kinase domain;.;FAM69, protein-kinase domain;FAM69, protein-kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1468.33	37	chr3	143989719	.	A	G	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=738;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.747;SOR=0.794	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1482,0,1480	18	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,36:166:6:.:.:6,0,3641:.	8	0	10	1
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A,SMC4:NM_001002800:exon5:c.T530C:p.V177A,SMC4:NM_001288753:exon5:c.T455C:p.V152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, 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	.	.	.	.	.	.	.	.	0.1053	225.45	46	chr3	160404347	.	T	C	225.45	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.497;DP=1041;ExcessHet=0.7564;FS=160.418;InbreedingCoeff=-0.1181;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.42;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,10:50:58:0|1:160404346_G_C:58,0,1335:160404346	15	0	4	0
chr3	161503133	161503133	G	A	exonic	OTOL1	.	nonsynonymous SNV	OTOL1:NM_001080440:exon4:c.G625A:p.G209R	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.943	0.602019184131	0.0007	0.000199681	0.0012	0.0011	0	0	0	0.0020	0	0	0.0003752	58	154602	rs199985412	0.0014	0.0013	0.0014	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	0.0001	5.039e-05	5.144e-05	0	0.0007	0.0006	0.0016	0.0012	0.0009	0.0008	0.0008	0.0009	0.0008	0.0016	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0003	0	0	0.0002	0	0.0016	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999002	0.45857	D	3.96	0.96509	H	-6.11	0.99530	D	-5.2	0.83695	D	0.93	0.93487	1.025	0.97621	D	0.987	0.99602	D	10	0.710117	0.72990	D	0.602019	0.96499	D	0.943	0.98816	0.948	0.99368	0.601576847986	0.59839	0.8355351794433269	0.83513	0.0223282141052	0.02243	0.762776136398	0.76343	T	0.424669	0.77503	T	0.233523	0.77051	D	0.558672	0.95814	D	0.141914642215613	0.16439	T	0.995467	0.98429	D	0.767931	0.81924	0.7667565	0.86224	0.767931	0.81926	0.7667565	0.86225	-12.72	0.88176	D	.	.	0.779	0.76326	P	.	.	4.324563	0.66219	24.9	0.99922751731550785	0.98852	0.99462	0.96329	D	AEFI	0.842896	0.75997	D	0.777662999592875	0.84690	8.358903	0.679013683780137	0.80789	7.377468	0.168234363307228	0.17696	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	9.232000	0.94431	11.470000	0.92855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.0:0.0:1.0:0.0	17.137	0.86621	861	0.33516	.	.	.	.	.	.	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	0.001556	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003937	0.02632	2159.33	35	chr3	161503133	.	G	A	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=774;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.944;SOR=1.03	GT:AD:DP:GQ:PL	0/1:63,76:139:99:2173,0,1609	18	0	1	0
chr3	165188532	165188532	A	T	exonic	SLITRK3	.	nonsynonymous SNV	SLITRK3:NM_001318810:exon2:c.T2299A:p.S767T,SLITRK3:NM_001318811:exon2:c.T2299A:p.S767T,SLITRK3:NM_014926:exon2:c.T2299A:p.S767T	.	432	1064	25	1	0	27	0.012529	.	.	.	2825046	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.00500885179933	0.0075	0.00459265	0.0050	0.0079	0.0050	0	0.0011	0.0066	0.0055	0.0010	0.0050387	779	154602	rs114564937	0.0057	0.0057	0.0058	0.0057	0.0234	0.0056	0.0056	0.0202	0.0190	0.0076	0.0069	0.0127	2.519e-05	0.0013	0.0234	0.0060	0.0082	0.0010	0.0066	0.0066	0.0068	0.0065	0.0113	0.0063	0.0062	0.0099	0.0094	0.0068	0	0.0113	0.0104	0	0.0011	0.0510	0.0067	0.0123	0.0013	0.593	0.05755	T	0.766	0.04539	T	0.0	0.02946	B	0.003	0.08700	B	0.109454	0.19484	N	0.274210	1	0.08975	N	0	0.06538	N	0.69	0.51714	T	-0.28	0.11547	N	0.099	0.10911	-1.0681	0.09836	T	0.029	0.12497	T	10	0.0052300096	0.00114	T	0.005009	0.12660	T	0.008	0.00669	.	.	0.289831133145	0.28582	0.3365773162473722	0.33570	0.182540845117	0.20516	0.445128530264	0.31278	T	0.015192	0.12791	T	-0.631665	0.00093	T	-0.670725	0.07562	T	0.00067123491512401	0.00006	T	0.410359	0.10588	T	0.049547575	0.08816	0.029576747	0.01311	0.049547575	0.08815	0.029576747	0.01311	-4.119	0.25569	T	.	.	0.067	0.02548	B	.;.	.;.	-0.315846	0.02550	0.307	0.22275419563544599	0.00888	0.14836	0.18610	N	AEFDBI	0.191038	0.31825	N	-1.47198114430266	0.02050	0.0901026	-1.51161872813398	0.02254	0.1034005	0.593698443047895	0.21668	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.4	-5.98	0.02034	-0.270000	0.08614	0.563000	0.19530	-0.065000	0.16512	0.000000	0.06391	0.003000	0.18671	0.033000	0.13494	0.2122:0.5141:0.1569:0.1168	4.042	0.09239	901	0.24189	.;.	.	.	.	.	.	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	0.022155	0.045455	0.036685	0.011696	0.000000	0.025862	0.012195	0.007576	0.05263	5722.83	35	chr3	165188532	.	A	T	5722.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.16;DP=1098;ExcessHet=0.119;FS=0.516;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.72;SOR=0.75	GT:AD:DP:GQ:PL	0/1:113,106:219:99:2811,0,3348	17	0	2	0
chr3	179250780	179250780	A	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_171830:exon1:c.T211G:p.L71V,KCNMB3:NM_001163677:exon2:c.T217G:p.L73V,KCNMB3:NM_014407:exon2:c.T223G:p.L75V,KCNMB3:NM_171828:exon2:c.T217G:p.L73V,KCNMB3:NM_171829:exon2:c.T157G:p.L53V	.	429	1039	54	0	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0019	0.0223642	0.0146	0.0008	0.0032	0.0395	0	0.0034	0.0077	0.0700	0.0129817	2007	154602	rs2276802	0.0072	0.0072	0.0051	0.0092	0.0684	0.0070	0.0070	0.0670	0.0664	0.0010	0.0031	0.0127	0.0326	9.36e-05	0.0218	0.0019	0.0093	0.0684	0.0053	0.0053	0.0040	0.0067	0.0642	0.0050	0.0049	0.0584	0.0561	0.0005	0	0.0055	0.0144	0.0357	0.0002	0.0102	0.0022	0.0038	0.0642	0.439	0.09291	T	0.738	0.08161	T	0.096	0.26519	B	0.038	0.31143	B	0.004138	0.34080	N	0.282759	0.617331	0.33807	D	1.295	0.32453	L	2.99	0.09262	T	-0.14	0.11366	N	0.059	0.07398	-0.9656	0.38092	T	0.004	0.01400	T	10	0.0046563745	0.00097	T	.	.	.	0.017	0.02790	.	.	.	.	0.4353581307616459	0.43452	0.226695250779	0.25215	0.263702362776	0.05340	T	0.001194	0.00692	T	-0.628976	0.00097	T	-0.625206	0.10781	T	0.00568234835327469	0.00062	T	0.693531	0.30321	T	0.03342323	0.03559	0.027471302	0.00903	0.03342323	0.03558	0.027471302	0.00903	-5.274	0.54223	T	.	.	0.122	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.193052	0.15847	12.14	0.95592976965032206	0.27316	0.52621	0.29175	D	AEFBCI	0.095312	0.19259	N	-0.470201504834976	0.23062	1.235759	-0.326274033879087	0.27252	1.51095	0.999465146575166	0.39843	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.94	0.942	0.18648	0.476000	0.21890	0.513000	0.19097	0.658000	0.54486	0.997000	0.40164	0.896000	0.27899	0.989000	0.64315	0.6203:0.1436:0.2361:0.0	5.147	0.14320	808	0.43318	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.020202	0.014946	0.011696	0.000000	0.008621	0.018293	0.037879	0.05263	4400.83	37	chr3	179250780	.	A	C	4400.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.125;DP=970;ExcessHet=0.119;FS=1.799;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.246;SOR=0.814	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2095,0,2118	17	0	2	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R,PEX5L:NM_001349401:exon3:c.A14G:p.K5R,PEX5L:NM_001256753:exon4:c.A413G:p.K138R,PEX5L:NM_001349397:exon4:c.A362G:p.K121R,PEX5L:NM_001349398:exon4:c.A323G:p.K108R,PEX5L:NM_001349399:exon4:c.A14G:p.K5R,PEX5L:NM_001349410:exon4:c.A14G:p.K5R,PEX5L:NM_001256751:exon5:c.A518G:p.K173R,PEX5L:NM_001256752:exon5:c.A485G:p.K162R,PEX5L:NM_001256755:exon5:c.A266G:p.K89R,PEX5L:NM_001256756:exon5:c.A14G:p.K5R,PEX5L:NM_001349392:exon5:c.A557G:p.K186R,PEX5L:NM_001349396:exon5:c.A389G:p.K130R,PEX5L:NM_001349406:exon5:c.A14G:p.K5R,PEX5L:NM_001349409:exon5:c.A14G:p.K5R,PEX5L:NM_001256750:exon6:c.A584G:p.K195R,PEX5L:NM_001256754:exon6:c.A461G:p.K154R,PEX5L:NM_001349388:exon6:c.A662G:p.K221R,PEX5L:NM_001349390:exon6:c.A650G:p.K217R,PEX5L:NM_001349391:exon6:c.A560G:p.K187R,PEX5L:NM_001349393:exon6:c.A557G:p.K186R,PEX5L:NM_001349394:exon6:c.A467G:p.K156R,PEX5L:NM_001349395:exon6:c.A461G:p.K154R,PEX5L:NM_001349408:exon6:c.A14G:p.K5R,PEX5L:NM_016559:exon6:c.A590G:p.K197R,PEX5L:NM_001349386:exon7:c.A755G:p.K252R,PEX5L:NM_001349387:exon7:c.A662G:p.K221R,PEX5L:NM_001349389:exon7:c.A656G:p.K219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	282.38	45	chr3	179875393	.	T	C	282.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-4.704;DP=2013;ExcessHet=1.3;FS=118.802;InbreedingCoeff=-0.1516;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.7;SOR=10.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,26:165:99:.:.:105,0,3426:.	14	0	5	0
chr3	183772434	183772434	G	T	exonic	YEATS2	.	nonsynonymous SNV	YEATS2:NM_001351369:exon16:c.G2077T:p.V693L,YEATS2:NM_001351370:exon16:c.G2080T:p.V694L,YEATS2:NM_001351371:exon16:c.G2077T:p.V693L,YEATS2:NM_018023:exon16:c.G2077T:p.V693L	.	424	1084	13	1	0	15	0.00687128	.	.	.	2825083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00662662918082	0.0065	0.00319489	0.0061	0.0015	0.0022	0.0001	0.0073	0.0080	0.0033	0.0070	0.0061772	955	154602	rs116616592	0.0073	0.0073	0.0073	0.0073	0.0083	0.0072	0.0071	0.0081	0.0081	0.0010	0.0022	0.0048	2.519e-05	0.0079	0.0035	0.0083	0.0050	0.0057	0.0054	0.0054	0.0053	0.0054	0.0085	0.0050	0.0049	0.0079	0.0077	0.0011	0	0.0033	0.0043	0	0.0086	0	0.0085	0.0047	0.0048	0.189	0.21224	T	0.433	0.13595	T	0.003	0.11197	B	0.001	0.04355	B	0.001582	0.38554	N	0.177257	0.991977	0.41522	D	0.805	0.20218	L	1.47	0.31987	T	-1.03	0.27052	N	0.189	0.20660	-1.1090	0.03157	T	0.036	0.15683	T	10	0.005942464	0.00133	T	0.006627	0.17501	T	0.019	0.03383	0.256	0.19689	0.043077524339	0.03247	0.1722589919553197	0.17145	0.101044409469	0.11422	0.486510664225	0.36956	T	0.034294	0.23262	T	-0.544993	0.00313	T	-0.547659	0.17551	T	0.00699830324474287	0.00080	T	0.888611	0.61875	D	0.083659455	0.19330	0.07778828	0.17362	0.083659455	0.19329	0.07778828	0.17362	-4.836	0.35008	T	.	.	0.191	0.40984	B	.	.	2.279837	0.29148	18.03	0.98546538949757334	0.42795	0.93470	0.58304	D	AEFDBI	0.227762	0.35152	N	-0.308814744371015	0.28811	1.59236	-0.113364895508075	0.34850	2.009394	0.86066448640555	0.25219	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.48	4.61	0.56724	2.013000	0.40561	3.842000	0.40046	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0727:0.0:0.9273:0.0	14.043	0.64210	698	0.58074	.	.	.	.	.	.	Likely benign	0	0	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	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	2117.33	42	chr3	183772434	.	G	T	2117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=760;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-1.013;SOR=0.614	GT:AD:DP:GQ:PL	0/1:58,71:129:99:2131,0,1449	18	0	1	0
chr3	183829630	183829630	T	G	exonic	PARL	.	nonsynonymous SNV	PARL:NM_001324437:exon8:c.A856C:p.N286H,PARL:NM_001037639:exon9:c.A958C:p.N320H,PARL:NM_001324436:exon9:c.A1006C:p.N336H,PARL:NM_018622:exon10:c.A1108C:p.N370H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.013024486116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.133	0.37730	T	0.241	0.37004	B	0.081	0.39112	B	0.003633	0.34687	N	0.283385	0.999638	0.21303	N	1.245	0.31408	L	0.52	0.55266	T	-1.67	0.39887	N	0.14	0.19995	-1.0248	0.22148	T	0.048	0.20632	T	10	0.055667162	0.06121	T	0.013024	0.32090	T	0.054	0.15330	0.172	0.07774	0.708053928561	0.70550	0.4552739247417924	0.45445	0.19268807253	0.21596	0.300830245018	0.10524	T	0.040247	0.25463	T	-0.16949	0.25313	T	-0.481237	0.24315	T	0.228731870651245	0.21891	T	0.843516	0.52087	T	0.03424236	0.03804	0.04952984	0.07589	0.03424236	0.03803	0.04952984	0.07589	-5.438	0.41284	T	.	.	0.074	0.09191	B	.;.;.;.	.;.;.;.	1.596025	0.20407	14.73	0.97929191533734383	0.36942	0.02220	0.06460	N	AEFBI	0.048961	0.08410	N	-0.567914745534952	0.19924	1.046609	-0.566135833155013	0.20379	1.097673	0.804660857360517	0.24248	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.7	1.93	0.24985	0.298000	0.18874	0.495000	0.18939	-0.137000	0.12594	0.014000	0.18986	0.767000	0.26670	0.997000	0.79791	0.1292:0.2134:0.1344:0.523	1.479	0.02286	612	0.66786	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	988.33	35	chr3	183829630	.	T	G	988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=718;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.87;SOR=0.798	GT:AD:DP:GQ:PL	0/1:62,38:100:99:1002,0,1551	18	0	1	0
chr3	184241313	184241313	G	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon16:c.G2435A:p.R812Q,VWA5B2:NM_138345:exon18:c.G3089A:p.R1030Q	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00462073205793	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943003452	2.931e-05	2.805e-05	3.244e-05	2.609e-05	0.0004	2.18e-05	1.962e-05	0.0003	0.0002	3.165e-05	0.0001	0	0.0004	2.047e-05	0	1.854e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.40832	D	0.203	0.27325	T	0.922	0.51142	P	0.163	0.34892	B	0.038948	0.24226	N	0.286637	0.999756	0.20482	N	.	.	.	2.88	0.17923	T	-1.29	0.32387	N	0.122	0.11340	-1.0224	0.22932	T	0.033	0.14247	T	10	0.04551524	0.03632	T	0.004621	0.11440	T	0.027	0.05988	.	.	0.0551355673512	0.04727	0.5145790085973394	0.51379	0.732076528421	0.62769	0.372174859047	0.21143	T	0.084718	0.37341	T	-0.455243	0.01051	T	-0.512206	0.21088	T	0.0981554687023163	0.12153	T	0.841416	0.51702	T	0.10129113	0.23925	0.14559361	0.34524	0.10129113	0.23925	0.14559361	0.34523	-4.97	0.36512	T	.	.	0.086	0.14979	B	.;.	.;.	2.085054	0.26522	17.15	0.99075467870944367	0.51834	0.01948	0.05923	N	AEFBCI	0.155735	0.28097	N	-0.678056457258939	0.16648	0.8500624	-0.782644045725467	0.14921	0.7821408	0.99984066191042	0.43971	0.437478	0.07067	0	0.514364	0.08380	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	4.51	1.75	0.23707	1.747000	0.37925	3.632000	0.39319	0.676000	0.76740	0.198000	0.24285	1.000000	0.68203	0.027000	0.12703	0.302:0.0:0.698:0.0	6.576	0.21764	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	35	chr3	184241313	.	G	A	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=717;ExcessHet=0;FS=3.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.915;SOR=1.142	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1296,0,966	18	0	1	0
chr3	184326895	184326895	C	T	exonic	EIF4G1	.	nonsynonymous SNV	EIF4G1:NM_004953:exon16:c.C2755T:p.R919C,EIF4G1:NM_198242:exon19:c.C2848T:p.R950C,EIF4G1:NM_198244:exon20:c.C3079T:p.R1027C,EIF4G1:NM_182917:exon22:c.C3343T:p.R1115C,EIF4G1:NM_001194947:exon23:c.C3361T:p.R1121C,EIF4G1:NM_001291157:exon23:c.C3220T:p.R1074C,EIF4G1:NM_198241:exon23:c.C3340T:p.R1114C,EIF4G1:NM_001194946:exon24:c.C3361T:p.R1121C	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.019439800465	7.7e-05	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs150054202	4.104e-06	4.104e-06	1.361e-06	6.875e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	0	0	0	0	0	3.597e-06	1.656e-05	0	6.57e-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	0.002	0.72154	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.055180	1	0.81001	D	2.545	0.74286	M	3.74	0.04905	T	-4.9	0.81514	D	0.895	0.91391	-1.1758	0.00435	T	0.070	0.28445	T	10	0.7888348	0.78482	D	0.01944	0.41802	T	0.277	0.59375	.	.	0.557128652785	0.55373	0.7068249356968431	0.70624	1.38216369645	0.84803	0.646243214607	0.59452	T	0.572792	0.85883	D	0.0754097	0.61500	D	0.0520723	0.73721	D	0.989951074123383	0.80172	D	0.993092	0.97891	D	0.5286567	0.68754	0.36647794	0.61976	0.5286567	0.68755	0.36647794	0.61976	-9.175	0.70392	D	.	.	0.528	0.65833	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.683778	0.93016	33	0.99945719546262513	0.99901	0.99020	0.90058	D	AEFBCI	0.919451	0.88999	D	0.791869276743714	0.85595	8.622962	0.761645240016221	0.87026	9.081573	0.999999999999985	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	5.72	0.89380	4.991000	0.63616	5.863000	0.50453	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:1.0:0.0:0.0	18.077	0.89360	912	0.21483	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1423.33	35	chr3	184326895	.	C	T	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=724;ExcessHet=0;FS=1.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=-2.013;SOR=0.985	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1437,0,831	18	0	1	0
chr3	184373063	184373063	A	C	exonic	THPO	.	nonsynonymous SNV	THPO:NM_000460:exon6:c.T512G:p.L171R,THPO:NM_001177597:exon6:c.T500G:p.L167R,THPO:NM_001290028:exon6:c.T512G:p.L171R,THPO:NM_001289998:exon7:c.T512G:p.L171R,THPO:NM_001290003:exon7:c.T932G:p.L311R,THPO:NM_001290022:exon7:c.T500G:p.L167R	Thrombocythemia 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.105047595066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.998	0.73220	D	0.892	0.63276	P	0.000823	0.41547	D	0.000000	1	0.81001	D	2.24	0.63355	M	-0.13	0.64818	T	-1.67	0.50012	N	0.853	0.85343	-0.6020	0.64735	T	0.245	0.61389	T	10	0.42954317	0.57399	T	0.105048	0.77995	D	0.364	0.68407	0.386	0.40624	0.819232285153	0.81752	0.33267852982529267	0.33180	0.973302796414	0.73459	0.431510597467	0.29415	T	0.544861	0.84482	D	0.152337	0.69486	D	-0.0189546	0.69097	D	0.953813433647156	0.64116	D	0.573243	0.20505	T	0.5103882	0.67702	0.35186973	0.60773	0.5103882	0.67703	0.35186973	0.60773	-3.756	0.20149	T	0.13995634362985418	0.15620	0.249	0.52937	B	.;.;.;.;.	.;.;.;.;.	3.934172	0.57522	23.9	0.99734355869644953	0.82975	0.87011	0.46425	D	AEFDBCI	0.446755	0.50268	N	0.287783890755577	0.55530	3.71691	0.268412058480272	0.53705	3.538081	0.999997897798877	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	4.32	4.32	0.50899	3.147000	0.50335	9.303000	0.79891	0.662000	0.56354	0.999000	0.42656	1.000000	0.68203	0.330000	0.25202	1.0:0.0:0.0:0.0	9.810	0.39985	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4040.33	92	chr3	184373063	.	A	C	4040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.064;DP=1658;ExcessHet=0;FS=2.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.693;SOR=0.56	GT:AD:DP:GQ:PL	0/1:188,173:361:99:4054,0,5370	18	0	1	0
chr3	195725664	195725664	T	C	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.T1061C:p.L354P	.	1209	279	4	0	30	34	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0256055254813	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1380180343	0.0152	0.0017	0.0153	0.0151	0.0420	0.0142	0.0139	0.0355	0.0331	0.0297	0.0137	0.0186	0.0420	0.0129	0.0115	0.0134	0.0205	0.0102	0.0034	0.0052	0.0025	0.0046	0.0060	0.0013	0.0009	.	.	0	0	0.0060	0	0	0.0405	0	0.0012	0	0	0.349	0.15823	T	0.347	0.21947	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0	0.06538	N	2.88	0.14907	T	0.38	0.11366	N	0.019	0.01004	-0.9800	0.35002	T	0.012	0.04558	T	3	0.003928691	0.00075	T	0.025606	0.48570	D	0.056	0.15993	0.344	0.33788	.	.	0.015491436027774854	0.01505	.	.	.	.	.	0.001288	0.04008	T	-0.783148	0.00010	T	-0.830907	0.01246	T	0.00181852192895544	0.00019	T	.	.	.	0.06442869	0.13669	0.16039895	0.37361	0.06442869	0.13668	0.16039895	0.37360	4.303	0.00008	T	.	.	0.036	0.00005	B	.;.;.	.;.;.	0.474922	0.08445	5.202	0.15675441487521538	0.00392	0.00023	0.00238	N	AEFI	0.041883	0.06426	N	-1.57874941594194	0.01374	0.05988492	-1.79679866405169	0.00769	0.034314	2.48845846791929E-4	0.06141	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	.	.	.	-0.966000	0.03935	-0.877000	0.07079	-1.065000	0.01608	0.024000	0.20007	0.000000	0.08366	0.022000	0.11911	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1111.39	29	chr3	195725664	.	T	C	1111.39	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.337;DP=581;ExcessHet=1.7609;FS=9.149;InbreedingCoeff=0.0852;MLEAC=6;MLEAF=1;MQ=36.16;MQRankSum=0.621;QD=11.95;ReadPosRankSum=-0.803;SOR=0.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,12:26:99:.:.:317,0,348:.	1	0	2	16
chr3	195778978	195778978	G	0	exonic	MUC4	.	.	.	.	430	961	15	0	116	131	0.00774393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	253.72	626	chr3	195778978	.	G	*	253.72	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-0.682;DP=7656;ExcessHet=3.6146;FS=2.774;InbreedingCoeff=-0.1186;MLEAC=7;MLEAF=0.233;MQ=53.86;MQRankSum=-4.516;QD=0.06;ReadPosRankSum=2.17;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:457,220:677:99:0|1:195778940_TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC_T:6176,0,17779:195778940	9	0	6	4
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.226733	0.414474	0.162338	0.192857	0.500000	0.192308	0.260417	0.166667	0.125	4903.95	250	chr3	195779374	.	C	A	4903.95	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-3.516;DP=2853;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.2295;MLEAC=4;MLEAF=0.167;MQ=54.1;MQRankSum=-11.92;QD=8.62;ReadPosRankSum=3.98;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,18:193:99:0|1:195779325_A_G:223,0,7303:195779325	9	0	3	7
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.2083	4879.21	216	chr3	195779396	.	C	T	4879.21	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-3.05;DP=2869;ExcessHet=0.0731;FS=0.602;InbreedingCoeff=0.1684;MLEAC=7;MLEAF=0.292;MQ=54.32;MQRankSum=-11.44;QD=8.53;ReadPosRankSum=3.75;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,18:202:99:0|1:195779325_A_G:202,0,7644:195779325	8	1	3	7
chr3	195779966	195779966	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3732.43	268	chr3	195779966	.	G	*	3732.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.006;DP=4033;ExcessHet=0.119;FS=1.74;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=54.49;MQRankSum=0.225;QD=7.73;ReadPosRankSum=-0.853;SOR=0.646	GT:AD:DP:GQ:PL	0/1:132,95:227:99:3554,0,5174	18	0	1	0
chr3	195780016	195780112	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	0	exonic	MUC4	.	.	.	.	474	577	408	37	26	508	0.294621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	25634.0	268	chr3	195780016	.	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	*	25634.0	.	AC=1;AF=0.029;AN=34;BaseQRankSum=5.3;DP=4863;ExcessHet=0.0568;FS=7.231;InbreedingCoeff=0.2861;MLEAC=1;MLEAF=0.029;MQ=53.79;MQRankSum=5.44;QD=18.39;ReadPosRankSum=-0.59;SOR=0.753	GT:AD:DP:GQ:PL	0/1:12,192:307:99:10808,3956,4142	16	0	1	2
chr3	195780062	195780062	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	4631.74	396	chr3	195780062	.	G	*	4631.74	.	AC=5;AF=0.147;AN=34;BaseQRankSum=1.81;DP=4944;ExcessHet=0.0107;FS=4.271;InbreedingCoeff=0.3667;MLEAC=5;MLEAF=0.147;MQ=56.06;MQRankSum=1.96;QD=3.14;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:6,224:230:99:1|1:195779968_GTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA_*:9641,599,0:195779968	13	1	3	2
chr3	195780103	195780103	G	0	exonic	MUC4	.	.	.	.	460	608	62	9	383	463	0.0617284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6505.95	396	chr3	195780103	.	G	*	6505.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.79;DP=4985;ExcessHet=0.0101;FS=13.569;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.25;MQ=51.06;MQRankSum=1.46;QD=8.97;ReadPosRankSum=-1.24;SOR=0.586	GT:AD:DP:GQ:PL	0/1:12,103:298:99:10494,6518,8033	7	0	3	9
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	45874.5	680	chr3	195780499	.	G	*	45874.5	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.721;DP=7497;ExcessHet=0.0925;FS=0;InbreedingCoeff=0.2762;MLEAC=5;MLEAF=0.147;MQ=54.24;MQRankSum=1.72;QD=9.76;ReadPosRankSum=-1.183;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,349:377:99:.:.:16177,1720,752:.	12	0	5	2
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	60340.5	679	chr3	195780501	.	C	*	60340.5	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-0.813;DP=7450;ExcessHet=0.6568;FS=0;InbreedingCoeff=0.0695;MLEAC=6;MLEAF=0.176;MQ=54.57;MQRankSum=-0.334;QD=10.7;ReadPosRankSum=-3.277;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,349:375:99:.:.:16093,1636,668:.	11	0	6	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	23279.0	579	chr3	195780510	.	G	*	23279.0	.	AC=6;AF=0.176;AN=34;BaseQRankSum=0.143;DP=7106;ExcessHet=0.0393;FS=0.542;InbreedingCoeff=0.3968;MLEAC=7;MLEAF=0.206;MQ=53.57;MQRankSum=2.52;QD=5.85;ReadPosRankSum=0.034;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,364:382:99:.:.:16321,1247,277:.	11	0	6	2
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	22646.6	579	chr3	195780514	.	G	*	22646.6	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.885;DP=7531;ExcessHet=0.061;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.219;MQ=54.02;MQRankSum=1.88;QD=5.61;ReadPosRankSum=-1.292;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,364:377:99:.:.:16383,1184,116:.	10	0	6	3
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5023.55	579	chr3	195780525	.	GTC	*	5023.55	.	AC=8;AF=0.308;AN=26;BaseQRankSum=-0.824;DP=7018;ExcessHet=0;FS=1.575;InbreedingCoeff=0.6608;MLEAC=11;MLEAF=0.423;MQ=53.01;MQRankSum=3.61;QD=2.26;ReadPosRankSum=0.247;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,364:368:99:.:.:16208,1024,0:.	8	3	2	6
chr3	195780528	195780528	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	946.81	579	chr3	195780528	.	C	*	946.81	.	AC=11;AF=0.5;AN=22;BaseQRankSum=2.37;DP=6994;ExcessHet=0.0015;FS=0.606;InbreedingCoeff=0.4909;MLEAC=16;MLEAF=0.727;MQ=53.39;MQRankSum=3.61;QD=0.39;ReadPosRankSum=0.587;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,364:368:99:.:.:16208,1024,0:.	4	4	3	8
chr3	195780541	195780541	C	0	exonic	MUC4	.	.	.	.	810	420	40	3	249	295	0.0519187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	949.18	579	chr3	195780541	.	C	*	949.18	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.261;DP=6540;ExcessHet=0;FS=0;InbreedingCoeff=0.5074;MLEAC=13;MLEAF=0.722;MQ=52.42;MQRankSum=5.65;QD=0.46;ReadPosRankSum=1.99;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:8,364:372:99:.:.:15893,797,0:.	4	3	2	10
chr3	195780551	195780551	C	0	exonic	MUC4	.	.	.	.	581	671	22	0	248	270	0.016129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	948.16	579	chr3	195780551	.	C	*	948.16	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-1;DP=6344;ExcessHet=0;FS=0;InbreedingCoeff=0.5634;MLEAC=12;MLEAF=0.545;MQ=52.17;MQRankSum=6.12;QD=0.45;ReadPosRankSum=2.54;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:14,364:378:99:.:.:15535,506,0:.	6	3	2	8
chr3	195780557	195780557	T	0	exonic	MUC4	.	.	.	.	578	675	22	0	247	269	0.016035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	948.49	579	chr3	195780557	.	T	*	948.49	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.826;DP=6338;ExcessHet=0;FS=0.682;InbreedingCoeff=0.518;MLEAC=12;MLEAF=0.6;MQ=52.04;MQRankSum=6.88;QD=0.45;ReadPosRankSum=2.14;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:18,364:382:99:.:.:15355,338,0:.	5	3	2	9
chr3	195780563	195780563	C	0	exonic	MUC4	.	.	.	.	632	621	22	0	247	269	0.0174051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	942.2	579	chr3	195780563	.	C	*	942.2	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.968;DP=6348;ExcessHet=0.0029;FS=0.656;InbreedingCoeff=0.4242;MLEAC=11;MLEAF=0.55;MQ=51.75;MQRankSum=8.81;QD=0.44;ReadPosRankSum=3.83;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:25,364:389:44:.:.:15040,44,0:.	5	2	3	9
chr3	195780572	195780572	T	0	exonic	MUC4	.	.	.	.	812	434	22	0	254	276	0.0247191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	69.59	579	chr3	195780572	.	T	*	69.59	.	AC=5;AF=0.278;AN=18;BaseQRankSum=1.13;DP=6411;ExcessHet=0.4981;FS=0;InbreedingCoeff=0.1556;MLEAC=8;MLEAF=0.444;MQ=51.42;MQRankSum=9.47;QD=0.03;ReadPosRankSum=4.84;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,364:406:99:.:.:14945,0,670:.	4	0	5	10
chr3	195780590	195780590	G	0	exonic	MUC4	.	.	.	.	755	498	22	0	247	269	0.021611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	301.13	579	chr3	195780590	.	G	*	301.13	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.87;DP=6561;ExcessHet=2.5072;FS=1.283;InbreedingCoeff=0.0198;MLEAC=7;MLEAF=0.389;MQ=50.81;MQRankSum=11.14;QD=0.13;ReadPosRankSum=2.14;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,361:419:99:.:.:14826,0,1342:.	5	0	4	10
chr3	195781292	195781292	T	0	exonic	MUC4	.	.	.	.	432	934	41	0	115	156	0.0214772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	18047.4	839	chr3	195781292	.	T	*	18047.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.323;DP=9717;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=58.26;MQRankSum=-4.562;QD=4.59;ReadPosRankSum=1.07;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:507,209:722:99:.:.:6088,0,26296:.	17	0	2	0
chr3	195781317	195781317	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	20244.4	887	chr3	195781317	.	G	*	20244.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.945;DP=9881;ExcessHet=1.3;FS=0.572;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=58.7;MQRankSum=-5.349;QD=5.09;ReadPosRankSum=0.036;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,203:742:99:0|1:195781314_G_*:6516,0,17154:195781314	17	0	2	0
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:467,56:523:99:.:.:889,0,19058:.	7	0	10	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,176:329:99:0|1:195781628_C_*:13305,6000,5573:195781628	5	5	8	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5142.35	626	chr3	195781639	.	A	*	5142.35	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.999;DP=5165;ExcessHet=0.0045;FS=0.658;InbreedingCoeff=0.4524;MLEAC=11;MLEAF=0.55;MQ=54.5;MQRankSum=-1.273;QD=3.6;ReadPosRankSum=2.35;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,176:315:99:0|1:195781628_C_*:13774,5625,5145:195781628	5	2	3	9
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	4726.44	626	chr3	195781647	.	A	*	4726.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.821;DP=4938;ExcessHet=0.0072;FS=3.612;InbreedingCoeff=0.475;MLEAC=11;MLEAF=0.55;MQ=54.6;MQRankSum=-3.859;QD=4.23;ReadPosRankSum=-5.711;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,176:302:99:0|1:195781628_C_*:14212,5344,4729:195781628	5	2	3	9
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	3832.91	626	chr3	195781666	.	A	*	3832.91	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.147;DP=4792;ExcessHet=0.0045;FS=1.45;InbreedingCoeff=0.5048;MLEAC=11;MLEAF=0.5;MQ=53.13;MQRankSum=-8.387;QD=2.81;ReadPosRankSum=-3.179;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,176:282:99:0|1:195781628_C_*:14286,4578,3836:195781628	6	2	3	8
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:24,97:167:99:.:.:3311,673,1853:.	7	1	10	1
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	92777.8	319	chr3	195783084	.	A	*	92777.8	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.675;DP=7548;ExcessHet=0.007;FS=2.736;InbreedingCoeff=0.437;MLEAC=4;MLEAF=0.125;MQ=57.31;MQRankSum=7.15;QD=22.91;ReadPosRankSum=3.08;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,209:415:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:14380,7859,7378:195783071	12	0	4	3
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6977.18	326	chr3	195783086	.	A	*	6977.18	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.104;DP=7530;ExcessHet=3.5988;FS=4.05;InbreedingCoeff=-0.2453;MLEAC=7;MLEAF=0.25;MQ=57.15;MQRankSum=-9.801;QD=1.64;ReadPosRankSum=-1.832;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:195,209:412:99:.:.:5450,0,7528:.	8	0	6	5
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	108773.0	320	chr3	195783093	.	A	*	108773.0	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.349;DP=7624;ExcessHet=0.0275;FS=3.375;InbreedingCoeff=0.3644;MLEAC=5;MLEAF=0.179;MQ=57.42;MQRankSum=4.92;QD=23.07;ReadPosRankSum=3.47;SOR=0.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,209:439:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:14973,8570,8834:195783071	10	0	4	5
chr3	195787051	195787051	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4529T:p.P1510L,MUC4:NM_001322468:exon5:c.C4529T:p.P1510L	.	454	1058	9	0	1	10	0.00423529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000872298701567	.	.	0.0004	0	0	0	0	0.0002	0	0.0007	1.29e-05	2	154602	rs199664463	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0001	0.0005	0.0005	0.0002	0.0001	0	2.83e-05	0	0.0013	0.0001	0.0003	0.0007	0.0001	0.0002	0.0001	0.0001	0.0006	6.73e-05	5.404e-05	9.854e-05	4.106e-05	3.391e-05	0.0050	0	0	0	0	0	0.0001	0	0.0006	0.057	0.37966	T	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.63	0.28002	T	-0.33	0.12472	N	0.056	0.02861	-1.0085	0.27385	T	0.036	0.15509	T	8	0.015502483	0.00325	T	8.72E-4	0.00777	T	0.013	0.01715	.	.	0.0297737177859	0.01360	9.818747572338761E-6	0.00000	.	.	0.483713299036	0.36568	T	.	.	.	-0.297818	0.08867	T	-0.665572	0.07895	T	0.00419578833352175	0.00045	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18580	B	.;.	.;.	1.926325	0.24464	16.41	0.80183866171444929	0.13083	0.00290	0.01555	N	AEFBI	0.048533	0.08291	N	-1.17930422346206	0.05313	0.2419222	-1.28156003227526	0.04679	0.2213052	1.17065881968259E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	0.312	0.15082	2.090000	0.41306	-2.348000	0.03868	0.170000	0.17755	0.031000	0.20493	0.000000	0.08366	0.002000	0.04165	0.4067:0.0:0.5933:0.0	2.826	0.05148	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	.	.	.	.	.	.	.	.	0.02632	2006.33	51	chr3	195787051	.	G	A	2006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=879;ExcessHet=0;FS=13.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.3;MQRankSum=-2.228;QD=20.06;ReadPosRankSum=1.11;SOR=0.032	GT:AD:DP:GQ:PL	0/1:38,62:100:99:2020,0,1181	18	0	1	0
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,7:18:25:.:.:285,0,25:.	11	0	8	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	4036.31	14	chr3	195787238	.	C	*	4036.31	.	AC=6;AF=0.188;AN=32;BaseQRankSum=2.39;DP=325;ExcessHet=0.0134;FS=2.32;InbreedingCoeff=0.4331;MLEAC=7;MLEAF=0.219;MQ=38.26;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.449;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,7:17:99:0|1:195787238_C_*:705,417,399:195787238	10	0	6	3
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3290.32	7	chr3	195787273	.	T	*	3290.32	.	AC=7;AF=0.25;AN=28;BaseQRankSum=0.089;DP=300;ExcessHet=0.0073;FS=10.133;InbreedingCoeff=0.4493;MLEAC=9;MLEAF=0.321;MQ=37.73;MQRankSum=-0.235;QD=18.7;ReadPosRankSum=-0.328;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,7:16:99:0|1:195787238_C_*:657,373,399:195787238	7	0	7	5
chr3	195787599	195787599	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3981C:p.M1327I,MUC4:NM_001322468:exon4:c.G3981C:p.M1327I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00238630808805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200851738	0.0041	0.0072	0.0040	0.0041	0.0286	0.0039	0.0038	0.0216	0.0191	0.0286	0.0099	0.0084	0.0185	0.0016	0.0024	0.0030	0.0063	0.0067	0.0007	0.0031	0.0007	0.0007	0.0010	0.0002	0.0001	9.869e-05	4.111e-05	0	0	0.0010	0	0	0.0021	0	0.0006	0	0	0.533	0.09572	T	0.429	0.13792	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	-0.13	0.08971	N	0.099	0.08088	-1.0200	0.23715	T	0.026	0.11131	T	7	0.0068490505	0.00156	T	0.002386	0.04646	T	0.025	0.05312	0.078	0.00601	0.0138822411134	0.00435	0.001284383071289368	0.00118	.	.	0.525663435459	0.42424	T	.	.	.	-0.402096	0.02243	T	-0.815359	0.01549	T	0.0010036658985378	0.00010	T	0.646135	0.25753	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.48355	B	.;.	.;.	-0.318243	0.02538	0.305	0.35878869987664419	0.02277	0.00238	0.01325	N	AEFI	0.033709	0.04050	N	-1.81618439156033	0.00507	0.02180808	-1.89498516261218	0.00501	0.02219431	6.01015288416931E-5	0.04171	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.078000	0.03524	-6.241000	0.01455	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.3292:0.3453:0.3255	2.135	0.03531	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	.	.	.	.	.	.	.	.	0.07692	31.65	4	chr3	195787599	.	C	G	31.65	.	AC=2;AF=0.077;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=1;MLEAF=0.038;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:195787508_T_C:45,3,0:195787508	12	1	0	6
chr3	195787858	195787858	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3722T:p.A1241V,MUC4:NM_001322468:exon4:c.C3722T:p.A1241V	.	754	726	24	4	14	46	0.0215633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00310099407166	.	.	0.0027	0.0060	0	0	0	0.0019	0	0.0043	2.59e-05	4	154602	rs200470030	0.0005	0.0029	0.0005	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0005	0.0007	0.0004	0.0012	0.0004	0.0006	0.0004	0.0003	0.0014	0.0004	0.0002	0.0015	7.729e-05	4.082e-05	0.0003	0.0001	0	0	0.0015	0	0	0	0	0.0002	0	0	0.011	0.55530	D	0.075	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	1.56	0.29866	T	-0.13	0.08971	N	0.1	0.08227	-1.0627	0.11093	T	0.045	0.19152	T	7	0.004917234	0.00105	T	0.003101	0.06726	T	0.057	0.16321	0.128	0.03331	0.0138822411134	0.00435	5.679174612668311E-5	0.00004	.	.	0.449930310249	0.31934	T	.	.	.	-0.280489	0.10615	T	-0.64068	0.09619	T	0.0155058956420158	0.00350	T	0.634936	0.24909	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16099	B	.;.	.;.	-0.403259	0.02200	0.219	0.97017531814541358	0.32010	0.00104	0.00666	N	AEFI	0.027497	0.02257	N	-1.45731490531687	0.02160	0.09506899	-1.67235334149452	0.01265	0.05701407	1.15719927465646E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-1.222000	0.03074	-10.294000	0.00717	-1.958000	0.00478	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2757:0.0:0.7243:0.0	5.179	0.14479	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	0.025000	0.111111	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05556	69.43	9	chr3	195787858	.	G	A	69.43	.	AC=2;AF=0.056;AN=36;DP=292;ExcessHet=0.0101;FS=12.075;InbreedingCoeff=0.3028;MLEAC=1;MLEAF=0.028;MQ=38.14;QD=5.79;SOR=3.502	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:195787858_G_A:88,6,0:195787858	17	1	0	1
chr3	195788180	195788180	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3400A:p.A1134T,MUC4:NM_001322468:exon4:c.G3400A:p.A1134T	.	470	951	19	0	82	101	0.00989068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	.	.	0.000998403	0.0111	0.0095	0.0213	0.0462	0.0024	0.0159	0	0.0060	0.0014295	221	154602	rs79645763	0.0003	0.0059	0.0003	0.0003	0.0027	0.0003	0.0003	0.0021	0.0019	0.0006	0.0004	0.0007	0.0027	0.0011	0.0005	0.0002	0.0006	8.487e-05	0.0038	0.0092	0.0037	0.0038	0.0071	0.0034	0.0033	0.0044	0.0035	0.0032	0.0082	0.0020	0.0037	0.0071	0.0066	0	0.0040	0.0042	0.0024	0.788	0.03218	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.049	0.05670	-1.0145	0.25497	T	0.033	0.14203	T	8	0.00656271	0.00149	T	.	.	.	0.000	0.00003	.	.	0.0138822411134	0.00435	0.003076283846689497	0.00286	.	.	0.321211725473	0.13606	T	.	.	.	-0.369551	0.03617	T	-0.768611	0.02814	T	0.00730006613025309	0.00084	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06114	B	.;.	.;.	0.065437	0.04751	1.376	0.90268847605123925	0.19538	0.00053	0.00405	N	AEFBI	0.030727	0.03149	N	-1.33967753435907	0.03233	0.1440755	-1.46984832069324	0.02595	0.1196181	1.98884394019904E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.814	-1.63	0.07900	-4.258000	0.00301	-0.347000	0.09772	-1.291000	0.01255	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.2638:0.3161:0.0:0.4201	1.939	0.03140	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	0.004065	0.010989	0.005597	0.000000	0.000000	0.000000	0.003968	0.000000	0.03333	277.07	521	chr3	195788180	.	C	T	277.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=2.97;DP=5493;ExcessHet=0;FS=32.612;InbreedingCoeff=0.2549;MLEAC=1;MLEAF=0.033;MQ=54.82;MQRankSum=-6.676;QD=2.29;ReadPosRankSum=-3.532;SOR=4.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,15:121:99:0|1:195788077_G_A:289,0,4406:195788077	14	0	1	4
chr3	195788183	195788183	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3397G:p.H1133D,MUC4:NM_001322468:exon4:c.C3397G:p.H1133D	.	458	976	6	0	82	88	0.00306435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0072	0.0052	0.0132	0.0269	0.0018	0.0104	0	0.0043	0.000925	143	154602	rs755264800	0.0001	0.0050	0.0001	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0003	0.0001	0.0002	0.0011	0.0005	0.0003	0.0001	0.0002	1.356e-05	0.0015	0.0045	0.0014	0.0015	0.0025	0.0013	0.0012	0.0015	0.0014	0.0007	0.0028	0.0010	0.0014	0.0025	0.0027	0	0.0018	0.0034	0.0008	1.0	0.00964	T	0.488	0.11691	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29085	T	-0.3	0.11913	N	0.172	0.27197	-1.0240	0.22410	T	0.035	0.14987	T	8	0.004650831	0.00097	T	.	.	.	0.027	0.05988	0.212	0.13066	0.0138822411134	0.00435	0.012443506741045308	0.01203	.	.	0.346953630447	0.17472	T	.	.	.	-0.378935	0.03164	T	-0.782091	0.02391	T	0.0449845124125565	0.04599	T	0.531447	0.17660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14797	B	.;.	.;.	1.334099	0.17395	13.14	0.75021871002754792	0.10915	0.00019	0.00214	N	AEFBI	0.020795	0.00858	N	-1.2886627646921	0.03810	0.1709067	-1.45455562657595	0.02729	0.1260527	1.89401554455299E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.706	-1.41	0.08473	-1.345000	0.02744	0.000000	0.13247	-1.834000	0.00587	0.000000	0.06391	0.003000	0.18671	0.006000	0.07323	0.2873:0.4226:0.2901:0.0	2.842	0.05193	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	.	.	.	.	.	.	.	.	0.03125	213.57	521	chr3	195788183	.	G	C	213.57	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.09;DP=5639;ExcessHet=0;FS=29.394;InbreedingCoeff=0.3182;MLEAC=1;MLEAF=0.031;MQ=55.15;MQRankSum=-6.67;QD=1.68;ReadPosRankSum=-3.048;SOR=3.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,14:127:99:0|1:195788077_G_A:226,0,4703:195788077	15	0	1	3
chr3	195788852	195788852	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A2728G:p.T910A,MUC4:NM_001322468:exon3:c.A2728G:p.T910A	.	415	1065	42	0	0	42	0.019337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0075	0.0155751	0.0096	0.0194	0.0042	0.0001	0.0002	0.0040	0.0102	0.0390	0.0090232	1395	154602	rs56943541	0.0062	0.0062	0.0051	0.0073	0.0404	0.0061	0.0060	0.0393	0.0388	0.0192	0.0040	0.0082	0.0002	0.0004	0.0156	0.0035	0.0080	0.0404	0.0092	0.0093	0.0089	0.0096	0.0391	0.0088	0.0087	0.0346	0.0328	0.0191	0.0011	0.0060	0.0075	0.0008	0.0003	0.0238	0.0039	0.0128	0.0391	0.0	0.91255	D	0.321	0.19073	T	.	.	.	.	.	.	0.277752	0.15003	N	0.551928	1	0.18198	N	.	.	.	0.96	0.42888	T	-0.5	0.15782	N	0.187	0.41853	-1.1053	0.03507	T	0.018	0.07565	T	10	0.0030997694	0.00051	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.005676888620947402	0.00537	.	.	0.379200518131	0.22144	T	.	.	.	-0.610085	0.00126	T	-0.619845	0.11197	T	0.0369301723646151	0.03144	T	0.491951	0.15143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22208	B	.;.	.;.	1.041610	0.14225	10.80	0.46889329741341601	0.03791	0.01682	0.05369	N	AEFBI	0.057494	0.10715	N	-0.773186617132331	0.14011	0.6945784	-0.859506745960561	0.13059	0.6753832	5.42944761998302E-5	0.04171	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.78	2.78	0.31702	1.293000	0.32959	-0.008000	0.13101	0.588000	0.31329	0.010000	0.18352	0.000000	0.08366	0.004000	0.06068	0.0:0.145:0.0:0.855	4.692	0.12168	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008152	0.011696	0.000000	0.000000	0.021341	0.030303	0.02632	2842.33	73	chr3	195788852	.	T	C	2842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=1443;ExcessHet=0;FS=7.464;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=-0.507;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,74:141:99:0|1:195788852_T_C:2856,0,2583:195788852	18	0	1	0
chr4	295462	295462	G	A	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon3:c.C202T:p.H68Y	.	480	1013	25	4	0	33	0.0160272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0015	0.00239617	0.0050	0.0007	0.0024	0.0002	0.0009	0.0031	0.0063	0.0196	0.0030983	479	154602	rs138314261	0.0027	0.0027	0.0023	0.0031	0.0147	0.0026	0.0026	0.0140	0.0137	0.0004	0.0021	0.0018	2.525e-05	0.0004	0.0109	0.0020	0.0032	0.0147	0.0019	0.0019	0.0018	0.0020	0.0137	0.0017	0.0016	0.0110	0.0101	0.0004	0	0.0020	0.0012	0.0002	0.0003	0.0068	0.0023	0.0024	0.0137	0.019	0.50132	D	0.259	0.23097	T	0.867	0.47667	P	0.337	0.42281	B	.	.	.	.	1	0.08975	N	1.595	0.40691	L	3.41	0.05574	T	-4.3	0.76496	D	0.283	0.32037	-0.9661	0.37994	T	0.015	0.05946	T	8	0.004892677	0.00104	T	.	.	.	0.037	0.09474	.	.	0.0297737177859	0.01360	0.008887082006758107	0.00851	0.00617594443748	0.00540	0.462571084499	0.33664	T	0.028374	0.20569	T	-0.583913	0.00182	T	-0.598554	0.12934	T	0.0382727865918116	0.03381	T	0.00488285	0.00016	T	0.18124768	0.39286	0.25665975	0.51369	0.18124768	0.39286	0.25665975	0.51368	-7.339	0.56473	T	.	.	0.083	0.11701	B	.;.	.;.	0.778245	0.11484	8.086	0.83627085447851301	0.14830	0.00662	0.02865	N	AEFBI	0.037922	0.05288	N	-0.641975677530967	0.17694	0.9126882	-0.849602537774039	0.13297	0.6890182	0.0801743627968419	0.15838	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	0.225	0.225	0.14598	0.919000	0.28312	.	.	0.373000	0.20310	0.005000	0.17040	0.000000	0.08366	0.031000	0.13245	.	.	.	958	0.09170	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	0.005550	0.000000	0.002717	0.005848	0.000000	0.000000	0.012270	0.011364	0.02632	1180.33	37	chr4	295462	.	G	A	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.486;DP=717;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.893;SOR=0.823	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1194,0,919	18	0	1	0
chr4	2932709	2932709	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon4:c.C422T:p.A141V,MFSD10:NM_001146069:exon5:c.C422T:p.A141V,MFSD10:NM_001363679:exon5:c.C422T:p.A141V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.022539371501	.	.	2.644e-05	9.968e-05	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs754994254	1.035e-05	1.368e-05	1.235e-05	8.326e-06	0.0003	6.21e-06	4.93e-06	6.133e-05	2.536e-05	0	2.315e-05	0	5.043e-05	0	0.0003	1.807e-06	3.342e-05	7.122e-05	6.573e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.104	0.29959	T	0.165	0.30926	T	0.437	0.35811	B	0.163	0.35019	B	0.013306	0.28882	N	0.403070	0.999947	0.19238	N	1.39	0.34934	L	-1.45	0.80899	T	-1.5	0.39887	N	0.445	0.51940	-0.9384	0.42869	T	0.209	0.56826	T	10	0.11511102	0.21678	T	0.022539	0.45438	T	0.130	0.35528	.	.	0.376216005999	0.37235	0.43753453259029607	0.43670	0.0265829955864	0.02714	0.328746020794	0.14745	T	0.164284	0.54966	T	-0.168803	0.25415	T	-0.294978	0.45252	T	0.0368688552349653	0.03133	T	0.940506	0.77585	D	0.08562965	0.19871	0.06408031	0.12789	0.08562965	0.19870	0.06408031	0.12788	-10.407	0.76311	D	.	.	0.118	0.23986	B	.;.;.;.;.	.;.;.;.;.	2.286312	0.29238	18.06	0.99523778476790425	0.69407	0.15106	0.18747	N	AEFDBCIJ	0.314989	0.41969	N	-0.687225187867526	0.16385	0.8343098	-0.657210151278053	0.18034	0.9616542	0.999966334829895	0.48965	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.73	1.87	0.24559	1.670000	0.37118	2.542000	0.33220	-0.117000	0.14459	0.405000	0.26210	0.070000	0.22201	0.883000	0.42306	0.1021:0.2977:0.3421:0.2581	2.158	0.03585	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1493.33	41	chr4	2932709	.	G	A	1493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.701;DP=818;ExcessHet=0;FS=0.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.656;SOR=0.54	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1507,0,1236	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:111,51:162:99:535,0,2614	1	0	18	0
chr4	8228326	8228326	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C2404T:p.R802W,SH3TC1:NM_018986:exon12:c.C2632T:p.R878W	.	405	1069	45	3	0	51	0.0232983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0080	0.00379393	0.0085	0.0024	0.0107	0	0.0017	0.0110	0.0114	0.0079	0.008247	1275	154602	rs116515695	0.0099	0.0099	0.0099	0.0100	0.0162	0.0098	0.0097	0.0135	0.0125	0.0018	0.0120	0.0133	0.0002	0.0026	0.0162	0.0109	0.0094	0.0075	0.0083	0.0083	0.0085	0.0081	0.0155	0.0079	0.0077	0.0139	0.0132	0.0023	0.0022	0.0155	0.0156	0	0.0028	0.0102	0.0116	0.0104	0.0064	0.018	0.50676	D	0.062	0.45318	T	0.864	0.47514	P	0.263	0.39594	B	0.005741	0.32538	N	0.326308	1	0.08975	N	2.885	0.83555	M	-0.26	0.67187	T	-5.73	0.87611	D	0.505	0.53708	-0.8657	0.50849	T	0.112	0.40006	T	10	0.009637147	0.00217	T	.	.	.	0.278	0.59497	.	.	0.484913652648	0.48122	0.46698923295145245	0.46617	0.218053028388	0.24340	0.481912225485	0.36321	T	0.240283	0.60858	T	-0.428911	0.01505	T	-0.375252	0.36277	T	0.1097481939629	0.13398	T	0.847115	0.52772	T	0.059006594	0.11940	0.089378275	0.20897	0.059006594	0.11940	0.089378275	0.20896	-8.491	0.64370	D	.	.	0.108	0.20430	B	.	.	1.805067	0.22940	15.82	0.93402194401286565	0.23161	0.03711	0.08995	N	AEFDBHCI	0.344076	0.43968	N	-1.09239725191294	0.06782	0.3132109	-1.29245337101502	0.04532	0.2139726	0.999999999899822	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.603688	0.36954	0	0.683672	0.66515	0	.	.	4.54	-9.07	0.00619	-0.033000	0.12196	0.036000	0.13800	-0.316000	0.05924	0.001000	0.13787	0.096000	0.22607	0.002000	0.04165	0.2556:0.442:0.0:0.3024	8.168	0.30395	988	0.01987	.	.	.	.	.	rs116515695	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012614	0.015152	0.010870	0.000000	0.000000	0.000000	0.024540	0.015152	0.05263	1530.83	89	chr4	8228326	.	C	T	1530.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.94;DP=1263;ExcessHet=0.119;FS=7.808;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.295;SOR=1.174	GT:AD:DP:GQ:PL	0/1:41,27:68:99:650,0,1088	17	0	2	0
chr4	8612077	8612077	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1245A:p.M415I,CPZ:NM_001014447:exon8:c.G1278A:p.M426I,CPZ:NM_001014448:exon8:c.G867A:p.M289I	.	.	.	.	.	.	.	.	.	.	.	3245848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.00621327799994	7.7e-05	.	8.391e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs372498180	4.721e-05	4.72e-05	4.629e-05	4.814e-05	6.957e-05	3.794e-05	3.476e-05	4.092e-05	3.742e-05	0	6.711e-05	0	0	1.878e-05	0	5.216e-05	1.656e-05	6.957e-05	3.289e-05	3.283e-05	3.857e-05	2.693e-05	5.882e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	2.417e-05	0	0	0	0	0	0	5.882e-05	0	0	0.375	0.17584	T	0.363	0.29540	T	0.797	0.49920	P	0.495	0.47504	P	0.000260	0.46924	U	0.186485	0.970054	0.26478	N	1.355	0.33814	L	4.03	0.03149	T	-1.41	0.34795	N	0.523	0.56662	-1.0368	0.18295	T	0.019	0.07893	T	10	0.22585219	0.39426	T	0.006213	0.16288	T	0.093	0.26882	0.566	0.68768	0.126345400529	0.12197	0.6772398649524226	0.67662	0.0058838960761	0.00512	0.638489961624	0.58349	T	0.031535	0.22084	T	-0.317133	0.07136	T	-0.488765	0.23519	T	0.112010814249516	0.13630	T	0.868913	0.59601	D	0.3028536	0.53159	0.27214602	0.53122	0.3028536	0.53159	0.27214602	0.53121	-7.344	0.58917	T	0.1422246703628874	0.16066	0.312	0.53951	B	.;.;.	.;.;.	3.781369	0.54376	23.5	0.97640193863092029	0.35074	0.42783	0.26954	N	AEFBCI	0.177074	0.30430	N	-0.0484090459784448	0.39673	2.343442	-0.0287955153054137	0.38419	2.263285	0.675291197919005	0.22419	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.19	4.19	0.48645	0.413000	0.20869	6.027000	0.52873	0.618000	0.50648	0.994000	0.38300	1.000000	0.68203	0.991000	0.66497	0.1481:0.1646:0.6872:0.0	6.522	0.21476	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3514.33	36	chr4	8612077	.	G	A	3514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=1070;ExcessHet=0;FS=0.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-2.206;SOR=0.662	GT:AD:DP:GQ:PL	0/1:150,155:305:99:3528,0,2742	18	0	1	0
chr4	15003723	15003723	-	GGC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.1050_1051insGGC:p.P361_G682delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.1050_1051insGGC:p.G360_P361insG,CPEB2:NM_001177383:exon1:c.1050_1051insGGC:p.P361_G679delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.1050_1051insGGC:p.P361_G682delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.1050_1051insGGC:p.P361_G709delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.1050_1051insGGC:p.P361_G679delinsGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	2	223	1	0	0	1	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0047	0.0197	0	0.0403	.	0	0	0.0053	0.0002846	44	154602	rs528354251	0.0055	0.0048	0.0057	0.0053	0.0355	0.0054	0.0054	0.0336	0.0328	0.0089	0.0040	5.519e-05	0.0355	0.0002	0.0018	0.0048	0.0074	0.0063	0.0066	0.0067	0.0069	0.0064	0.0484	0.0063	0.0061	0.0434	0.0415	0.0086	0	0.0041	0	0.0484	0.0002	0	0.0042	0.0096	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1363.78	48	chr4	15003723	.	G	GGGC	1363.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.579;DP=788;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=0.578;SOR=0.771	GT:AD:DP:GQ:PL	0/1:15,21:36:99:752,0,545	18	0	1	0
chr4	25415491	25415491	A	G	exonic	ANAPC4	.	nonsynonymous SNV	ANAPC4:NM_001286756:exon26:c.A1855G:p.I619V,ANAPC4:NM_013367:exon26:c.A1852G:p.I618V	.	425	1095	2	0	0	2	0.000912409	.	.	.	4157008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00404674785834	.	.	3.398e-05	0	0	0	0	4.654e-05	0	6.258e-05	4.53e-05	7	154602	rs575771639	3.422e-05	3.42e-05	3.95e-05	2.889e-05	0.0002	2.633e-05	2.376e-05	2.712e-05	2.388e-05	2.991e-05	2.24e-05	0	0	0	0.0002	3.599e-05	3.314e-05	5.802e-05	5.261e-05	5.255e-05	3.857e-05	6.73e-05	0.0002	2.559e-05	1.831e-05	3.764e-05	2.576e-05	0	0	0	0	0	0	0	8.825e-05	0.0005	0.0002	0.624	0.05468	T	0.789	0.04207	T	0.0	0.02946	B	0.0	0.01387	B	0.099436	0.19934	N	0.562357	0.999948	0.19238	N	0.345	0.11182	N	1.61	0.28391	T	-0.48	0.15379	N	0.021	0.00407	-0.9896	0.32702	T	0.019	0.08079	T	10	0.040190995	0.02567	T	0.004047	0.09650	T	0.087	0.25287	0.354	0.35408	0.31411915649	0.31020	0.15699666462791093	0.15620	0.423830427067	0.42828	0.34165930748	0.16686	T	0.024864	0.18706	T	-0.483377	0.00707	T	-0.740431	0.03872	T	0.0120730320622462	0.00191	T	0.765223	0.39255	T	0.044130027	0.07000	0.045712374	0.06211	0.044130027	0.07000	0.045712374	0.06210	-2.774	0.07946	T	.	.	0.063	0.01449	B	.;.	.;.	-0.912954	0.00905	0.033	0.44291915516854591	0.03395	0.01250	0.04399	N	AEFBI	0.019120	0.00636	N	-1.48654709936383	0.01944	0.08536824	-1.46510024467648	0.02636	0.1215976	0.999976969088763	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	6.08	-10.2	0.00305	-0.847000	0.04439	-1.441000	0.05432	0.691000	0.84096	0.045000	0.21207	0.000000	0.08366	0.990000	0.65344	0.2051:0.0875:0.7074:0.0	18.625	0.91291	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2070.33	34	chr4	25415491	.	A	G	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.263;DP=814;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=2.16;SOR=0.784	GT:AD:DP:GQ:PL	0/1:71,81:152:99:2084,0,1829	18	0	1	0
chr4	39448675	39448675	G	A	exonic	KLB	.	nonsynonymous SNV	KLB:NM_175737:exon5:c.G3124A:p.V1042I	.	423	1096	3	0	0	3	0.00136674	.	.	.	720978	not_provided|KLB-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.098	0.0146064754926	0.0030	0.000599042	0.0036	0.0005	0.0010	0	0.0052	0.0057	0.0011	6.391e-05	0.0034928	540	154602	rs143809363	0.0036	0.0036	0.0037	0.0035	0.0076	0.0035	0.0035	0.0058	0.0052	0.0007	0.0018	0.0001	0	0.0055	0.0076	0.0042	0.0034	9.284e-05	0.0027	0.0027	0.0026	0.0028	0.0046	0.0025	0.0024	0.0042	0.0040	0.0007	0.0011	0.0011	0	0	0.0041	0.0034	0.0046	0.0033	0	0.035	0.43708	D	0.0	0.92824	D	0.18	0.29046	B	0.03	0.21741	B	0.442178	0.04766	N	1.335990	0.994194	0.23568	N	1.32	0.33002	L	1.67	0.27331	T	-0.16	0.09460	N	0.122	0.11340	-1.0599	0.11781	T	0.064	0.26597	T	10	0.004071802	0.00080	T	0.014606	0.34839	T	0.098	0.28162	.	.	0.464270400615	0.46053	0.2239415603568053	0.22309	0.00648413561116	0.00566	0.374598711729	0.21488	T	0.021818	0.16927	T	-0.579153	0.00195	T	-0.600964	0.12730	T	0.0163311380054414	0.00403	T	0.475352	0.14216	T	0.07787271	0.17701	0.09780823	0.23294	0.07787271	0.17701	0.09780823	0.23294	-3.559	0.17267	T	.	.	0.092	0.13409	B	.	.	2.934680	0.38996	20.9	0.9818863236017964	0.39010	0.82532	0.41746	D	AEFDBHCI	0.204380	0.33082	N	-0.224035125635601	0.32148	1.810043	-0.0808912342691369	0.36181	2.102317	0.999999995347613	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	5.68	4.83	0.61880	2.135000	0.41735	6.063000	0.53189	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.1344:0.0:0.8656:0.0	12.582	0.55750	544	0.72685	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	989.33	37	chr4	39448675	.	G	A	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=786;ExcessHet=0;FS=8.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.028;SOR=0.454	GT:AD:DP:GQ:PL	0/1:55,36:91:99:1003,0,1500	18	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	202.35	101	chr4	53145477	.	T	C	202.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.909;DP=1495;ExcessHet=1.3;FS=119.723;InbreedingCoeff=-0.1484;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.495;SOR=10.505	GT:AD:DP:GQ:PL	0/1:75,29:104:59:59,0,1504	14	0	5	0
chr4	53496267	53496267	G	T	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon5:c.C818A:p.A273D,LNX1:NM_001126328:exon6:c.C1106A:p.A369D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00914292577376	0.0003	.	0.0003	9.612e-05	0.0002	0	0	0.0004	0	0.0001	0.0002911	45	154602	rs140440998	0.0007	0.0007	0.0007	0.0007	0.0009	0.0006	0.0006	0.0008	0.0008	0.0001	0.0001	0	0	0	0	0.0009	0.0004	5.797e-05	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0001	0	0.0004	0	0	0	0	0.0008	0	0	0.05	0.39575	D	0.19	0.28482	T	0.002	0.31443	B	0.004	0.30945	B	0.424687	0.12826	N	0.767856	1	0.08975	N	1.19	0.30124	L	3.08	0.08460	T	-0.62	0.18248	N	0.322	0.36254	-0.9334	0.43636	T	0.015	0.05897	T	10	0.035460234	0.01796	T	0.009143	0.24036	T	0.008	0.00669	.	.	0.257292322809	0.25322	0.313203023359007	0.31233	0.120997686537	0.13633	0.280162423849	0.07515	T	0.081195	0.36540	T	-0.611737	0.00124	T	-0.692027	0.06272	T	0.00969887567712645	0.00127	T	0.635136	0.24942	T	0.059750494	0.12180	0.072641075	0.15695	0.059750494	0.12180	0.072641075	0.15695	-2.343	0.04795	T	.	.	0.095	0.14979	B	.;.	.;.	0.022744	0.04442	1.169	0.71728149790942675	0.09728	0.13010	0.17611	N	AEFBI	0.200865	0.32756	N	-1.08506838442882	0.06918	0.3198348	-1.07688703909197	0.08156	0.3998202	0.995860267017163	0.34373	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.29	2.65	0.30588	0.342000	0.19669	1.610000	0.27630	-0.679000	0.04243	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.1956:0.1142:0.6902:0.0	8.043	0.29692	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2886.33	44	chr4	53496267	.	G	T	2886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.16;DP=955;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.547;SOR=0.873	GT:AD:DP:GQ:PL	0/1:122,115:237:99:2900,0,3155	18	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	0.02632	2148.33	47	chr4	67754019	.	T	C	2148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.959;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-1.848;SOR=0.662	GT:AD:DP:GQ:PL	0/1:86,89:175:99:2162,0,2564	18	0	1	0
chr4	68228833	68228833	T	A	exonic	TMPRSS11B	.	nonsynonymous SNV	TMPRSS11B:NM_182502:exon9:c.A998T:p.K333I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0795971840476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	2.052e-06	1.361e-06	1.375e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.041	0.50514	D	0.602	0.39365	P	0.266	0.39732	B	0.434216	0.12710	N	0.678072	1	0.08975	N	1.655	0.42436	L	-2.48	0.89071	D	-3.64	0.69835	D	0.243	0.27435	-0.2854	0.75393	T	0.571	0.84490	D	10	0.20899269	0.37247	T	0.079597	0.73271	D	0.178	0.44724	0.516	0.61611	0.365892764245	0.36201	0.5423977651483927	0.54164	0.0386234349333	0.04107	0.337361097336	0.16042	T	0.58694	0.86560	D	-0.0542459	0.43800	T	-0.315697	0.43045	T	0.763172686100006	0.44035	D	0.240376	0.03449	T	0.29531294	0.52482	0.16183417	0.37623	0.29531294	0.52482	0.16183417	0.37622	-8.483	0.64317	D	.	.	0.232	0.46516	B	.	.	1.572116	0.20126	14.60	0.99211407674803154	0.55594	0.16361	0.19353	N	AEFI	0.070699	0.14046	N	-0.440002012607631	0.24080	1.297722	-0.540564945573529	0.21057	1.137333	3.37749308437566E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.5	3.29	0.36801	-0.488000	0.06578	.	.	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1669:0.0:0.0:0.8331	8.902	0.34656	799	0.44747	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	992.33	95	chr4	68228833	.	T	A	992.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.317;DP=1888;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.544;SOR=0.836	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1006,0,1361	18	0	1	0
chr4	75890027	75890027	C	T	exonic	PPEF2	.	nonsynonymous SNV	PPEF2:NM_006239:exon5:c.G347A:p.G116E	.	.	.	.	.	.	.	.	.	.	.	4045764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.684	0.083037107475	0.0002	.	4.942e-05	0	0	0	0	8.99e-05	0	0	4.53e-05	7	154602	rs371806117	3.489e-05	3.489e-05	2.859e-05	4.125e-05	0.0007	2.697e-05	2.438e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.227e-05	0	0	3.946e-05	3.941e-05	2.571e-05	5.386e-05	8.822e-05	1.717e-05	1.13e-05	3.763e-05	2.575e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.66	0.94269	H	0.24	0.59583	T	-7.51	0.95074	D	0.961	0.97095	0.085	0.83901	D	0.457	0.78872	T	10	0.96216685	0.95641	D	0.083037	0.74030	D	0.684	0.88443	.	.	0.915572184745	0.91472	0.911648623352375	0.91138	0.739975342488	0.63197	0.59905898571	0.52771	T	0.474212	0.80575	T	0.206503	0.74502	D	0.239147	0.85110	D	0.994751989841461	0.86243	D	0.976402	0.91778	D	0.90382457	0.91727	0.9235718	0.96648	0.90382457	0.91728	0.9235718	0.96649	-12.318	0.86366	D	.	.	0.925	0.84615	P	.;.	.;.	4.001240	0.58965	24.0	0.99761773129191555	0.85091	0.98983	0.89528	D	AEFDBI	0.926220	0.90698	D	0.717622006602248	0.80787	7.372408	0.607480537628094	0.75482	6.318328	0.999999662459822	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	7.378000	0.78957	7.154000	0.57685	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.154000	0.20445	0.0:1.0:0.0:0.0	15.361	0.74193	900	0.24599	PPP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1209.33	33	chr4	75890027	.	C	T	1209.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.809;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.103;SOR=0.706	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1223,0,1242	18	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	188.65	59	chr4	82485718	.	G	C	188.65	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-1.174;DP=787;ExcessHet=0.3672;FS=78.247;InbreedingCoeff=-0.1404;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.15;SOR=8.172	GT:AD:DP:GQ:PL	0/1:25,16:43:77:77,0,470	13	0	3	3
chr4	83284842	83284842	A	C	exonic	COQ2	.	nonsynonymous SNV	COQ2:NM_015697:exon1:c.T73G:p.L25V	Coenzyme Q10 deficiency, primary, 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	140682	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	.	0.00299521	0.0023	0	0	0.0490	0	0	0	0.0001	0.0008603	133	154602	rs150145464	0.0004	0.0005	0.0004	0.0005	0.0153	0.0004	0.0004	0.0143	0.0139	0	0	0	0.0153	0	0	1.009e-05	0.0007	0.0003	0.0006	0.0006	0.0005	0.0007	0.0168	0.0005	0.0005	0.0139	0.0129	0	0	0	0	0.0168	0	0	1.471e-05	0	0.0006	0.538	0.06847	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	-1.13	0.77719	T	0.03	0.06612	N	0.163	0.17140	-0.9778	0.35503	T	0.112	0.40099	T	5	0.00371176	0.00069	T	.	.	.	0.087	0.25287	.	.	0.301122078929	0.29733	0.06348138416413113	0.06287	0.156283666226	0.17638	0.451879024506	0.32200	T	.	.	.	-0.460058	0.00983	T	-0.418023	0.31303	T	0.0137196625417535	0.00257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03515	B	.	.	0.058350	0.04700	1.339	0.68294930767191553	0.08614	0.00584	0.02629	N	ALL	0.029555	0.02811	N	-1.16430417797728	0.05548	0.2532303	-1.41725380914691	0.03079	0.1429466	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.179345	0.04352	3	0.003489	0.00041	3	.	.	1.38	-2.76	0.05547	-1.065000	0.03569	-1.615000	0.05056	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.361:0.1924:0.227:0.2197	0.186	0.00120	606	0.67383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	795.33	43	chr4	83284842	.	A	C	795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=785;ExcessHet=0;FS=3.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.07;SOR=0.916	GT:AD:DP:GQ:PL	0/1:46,30:76:99:809,0,1082	18	0	1	0
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,18:38:99:0|1:87615730_ATAG_A:671,0,786:87615730	1	11	7	0
chr4	87615740	87615740	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,10:30:99:0|1:87615730_ATAG_A:671,0,785:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,10:30:99:0|1:87615730_ATAG_A:671,0,785:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,10:20:99:.:.:788,385,618:.	2	2	9	6
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:74,50:139:99:313,0,1342	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,48:123:99:.:.:452,0,1345:.	2	0	17	0
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	577.3	184	chr4	101196011	.	C	G	577.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.731;DP=2361;ExcessHet=0.7564;FS=238.355;InbreedingCoeff=-0.3579;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.57;SOR=10.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:134,47:181:47:.:.:47,0,2734:.	3	0	4	12
chr4	106171171	106171171	G	A	exonic	TBCK	.	nonsynonymous SNV	TBCK:NM_033115:exon21:c.C1970T:p.S657F,TBCK:NM_001163435:exon23:c.C2159T:p.S720F,TBCK:NM_001163436:exon23:c.C2159T:p.S720F,TBCK:NM_001163437:exon23:c.C2042T:p.S681F,TBCK:NM_001290768:exon24:c.C1643T:p.S548F	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive	428	1089	5	0	0	5	0.00229043	.	.	YES	903530	Hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3|not_provided	MONDO:MONDO:0014823,MedGen:C5567480,OMIM:616900,Orphanet:488632|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.0240659459662	7.7e-05	0.000199681	5.777e-05	9.61e-05	8.732e-05	0	0	1.5e-05	0	0.0002	5.17e-05	8	154602	rs370050799	2.807e-05	2.805e-05	2.18e-05	3.441e-05	0.0005	2.088e-05	1.88e-05	0.0002	0.0002	0	2.245e-05	0	0	0	0.0005	8.997e-06	4.973e-05	0.0003	4.599e-05	4.594e-05	6.429e-05	2.687e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.942e-05	0	0.0010	0.053	0.39097	T	0.158	0.31936	T	0.006	0.32870	B	0.024	0.30579	B	0.712252	0.10003	N	0.886538	1	0.08975	N	0.55	0.14455	N	-0.21	0.67011	T	-0.71	0.22294	N	0.234	0.26354	-0.9590	0.39368	T	0.139	0.45734	T	10	0.040279508	0.02584	T	0.024066	0.47052	T	0.111	0.31313	.	.	0.732106347842	0.72972	0.2166218010954197	0.21578	0.088428659937	0.09995	0.338088333607	0.16151	T	0.004825	0.04238	T	-0.3287	0.06211	T	-0.409607	0.32270	T	0.0208902675658464	0.00790	T	0.368563	0.08641	T	0.045918338	0.07598	0.07246291	0.15636	0.045918338	0.07597	0.07246291	0.15636	-6.146	0.49657	T	0.21341008423495667	0.28655	0.082	0.08802	B	.;.;.;.;.	.;.;.;.;.	2.581986	0.33479	19.35	0.95179950509414413	0.26348	0.43406	0.27091	N	AEFBI	0.170887	0.29782	N	-0.516965887911949	0.21532	1.143365	-0.440169544942217	0.23829	1.301541	0.0174988504366685	0.12957	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.99	3.16	0.35406	2.815000	0.47717	2.470000	0.32893	0.618000	0.50648	0.522000	0.27127	0.064000	0.22093	0.987000	0.62547	0.0829:0.1533:0.605:0.1588	4.683	0.12129	517	0.74620	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3004.83	33	chr4	106171171	.	G	A	3004.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=811;ExcessHet=0.119;FS=0.502;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.495;SOR=0.641	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1274,0,1084	17	0	2	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:61,17:78:49:49,0,1201	5	0	12	2
chr4	109516571	109516571	T	C	exonic	SEC24B	.	nonsynonymous SNV	SEC24B:NM_001042734:exon10:c.T1952C:p.V651A,SEC24B:NM_001318086:exon10:c.T1949C:p.V650A,SEC24B:NM_001318085:exon11:c.T2054C:p.V685A,SEC24B:NM_006323:exon11:c.T2057C:p.V686A,SEC24B:NM_001300813:exon12:c.T2147C:p.V716A	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.910	0.178018179034	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.705	0.94653	H	-1.4	0.80474	T	-3.96	0.73579	D	0.907	0.90818	0.675	0.92863	D	0.740	0.91134	D	10	0.9608872	0.95497	D	0.178018	0.85328	D	0.910	0.97587	0.858	0.95662	0.907211780275	0.90628	0.7708348246216071	0.77032	0.696526092715	0.60853	0.817401230335	0.84630	D	0.515325	0.82946	D	0.442608	0.92144	D	0.398	0.92047	D	0.99867707490921	0.94827	D	0.987501	0.95747	D	0.77940047	0.82617	0.709509	0.82867	0.77940047	0.82619	0.709509	0.82868	-12.861	0.88997	D	.	.	0.620	0.77167	P	.;.;.	.;.;.	5.240790	0.87984	29.4	0.99909768690898237	0.97949	0.98805	0.87082	D	AEFGBI	0.885629	0.81632	D	0.956823638070828	0.94252	12.616	0.91276474594133	0.96106	14.30831	0.999994136540294	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	8.017000	0.88732	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.232	0.82169	858	0.34001	.;.;Sec23/Sec24, trunk domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	612.33	36	chr4	109516571	.	T	C	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.371;DP=709;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=0.396;SOR=0.786	GT:AD:DP:GQ:PL	0/1:41,30:71:99:626,0,982	18	0	1	0
chr4	113369602	113369602	A	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon21:c.A2680T:p.T894S,ANK2:NM_001354280:exon21:c.A2701T:p.T901S,ANK2:NM_001354281:exon21:c.A2680T:p.T894S,ANK2:NM_001354279:exon22:c.A2716T:p.T906S,ANK2:NM_001354282:exon22:c.A2716T:p.T906S,ANK2:NM_001354277:exon39:c.A4768T:p.T1590S,ANK2:NM_001354260:exon40:c.A4867T:p.T1623S,ANK2:NM_001354268:exon40:c.A4954T:p.T1652S,ANK2:NM_001354271:exon40:c.A4867T:p.T1623S,ANK2:NM_001354273:exon40:c.A4852T:p.T1618S,ANK2:NM_001354274:exon40:c.A4918T:p.T1640S,ANK2:NM_001354228:exon41:c.A5053T:p.T1685S,ANK2:NM_001354245:exon41:c.A4990T:p.T1664S,ANK2:NM_001354249:exon41:c.A4966T:p.T1656S,ANK2:NM_001354257:exon41:c.A4891T:p.T1631S,ANK2:NM_001354258:exon41:c.A5053T:p.T1685S,ANK2:NM_001354264:exon41:c.A4987T:p.T1663S,ANK2:NM_001354266:exon41:c.A4966T:p.T1656S,ANK2:NM_001354267:exon41:c.A4966T:p.T1656S,ANK2:NM_001354269:exon41:c.A4939T:p.T1647S,ANK2:NM_001354276:exon41:c.A4966T:p.T1656S,ANK2:NM_001354236:exon42:c.A5050T:p.T1684S,ANK2:NM_001354240:exon42:c.A5197T:p.T1733S,ANK2:NM_001354253:exon42:c.A4927T:p.T1643S,ANK2:NM_001354261:exon42:c.A5011T:p.T1671S,ANK2:NM_001354262:exon42:c.A4990T:p.T1664S,ANK2:NM_001354270:exon42:c.A4927T:p.T1643S,ANK2:NM_001354275:exon42:c.A4990T:p.T1664S,ANK2:NM_020977:exon42:c.A5152T:p.T1718S,ANK2:NM_001148:exon43:c.A11407T:p.T3803S,ANK2:NM_001354225:exon43:c.A5164T:p.T1722S,ANK2:NM_001354230:exon43:c.A5131T:p.T1711S,ANK2:NM_001354231:exon43:c.A5194T:p.T1732S,ANK2:NM_001354232:exon43:c.A5188T:p.T1730S,ANK2:NM_001354235:exon43:c.A5149T:p.T1717S,ANK2:NM_001354241:exon43:c.A5197T:p.T1733S,ANK2:NM_001354242:exon43:c.A5194T:p.T1732S,ANK2:NM_001354243:exon43:c.A5089T:p.T1697S,ANK2:NM_001354246:exon43:c.A5149T:p.T1717S,ANK2:NM_001354255:exon43:c.A5089T:p.T1697S,ANK2:NM_001354265:exon43:c.A5149T:p.T1717S,ANK2:NM_001127493:exon44:c.A5125T:p.T1709S,ANK2:NM_001354237:exon44:c.A5230T:p.T1744S,ANK2:NM_001354244:exon44:c.A5086T:p.T1696S,ANK2:NM_001354254:exon44:c.A5101T:p.T1701S,ANK2:NM_001354256:exon44:c.A5086T:p.T1696S,ANK2:NM_001354272:exon44:c.A5023T:p.T1675S,ANK2:NM_001354239:exon45:c.A5122T:p.T1708S,ANK2:NM_001354252:exon45:c.A5122T:p.T1708S	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0445853029146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.58626	T	0.796	0.50514	T	0.001	0.23866	B	0.012	0.17295	B	0.011832	0.29386	N	0.233115	1	0.08975	N	1.79	0.46772	L	-0.17	0.95859	T	0.22	0.30964	N	0.094	0.17691	-0.1169	0.79707	T	0.698	0.89591	D	10	0.07384136	0.11210	T	0.044585	0.61562	D	0.095	0.27398	0.3	0.26683	0.726479719631	0.72405	0.10578488658162245	0.10508	0.16739683595	0.18886	0.235181301832	0.02374	T	0.264873	0.63669	T	0.0569978	0.59235	T	-0.155903	0.58719	T	0.0678694231388304	0.08350	T	0.786621	0.43084	T	0.026736442	0.01768	0.041211408	0.04634	0.026736442	0.01768	0.041211408	0.04634	-2.444	0.06097	T	0.11845656821371332	0.10931	0.097	0.16626	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.666486	0.10347	7.077	0.80079254978924563	0.13035	0.07557	0.13570	N	AEFBI	0.098350	0.19820	N	-0.840533603768073	0.12284	0.5978067	-0.893120106068429	0.12256	0.6293966	0.764500340720774	0.23565	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.66	0.059	0.13642	0.540000	0.22900	0.970000	0.23052	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.531000	0.29730	0.4008:0.1473:0.3082:0.1437	1.207	0.01781	605	0.67457	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1478.33	33	chr4	113369602	.	A	T	1478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=737;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.219;SOR=0.611	GT:AD:DP:GQ:PL	0/1:75,52:127:99:1492,0,2148	18	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1471	332.36	30	chr4	127704251	.	G	C	332.36	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-2.31;DP=979;ExcessHet=1.3;FS=250.412;InbreedingCoeff=-0.1783;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.241;SOR=10.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,13:52:2:0|1:127704250_G_T:2,0,1096:127704250	12	0	5	2
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	488.94	75	chr4	134199956	.	C	T	488.94	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-1.052;DP=1203;ExcessHet=2.0135;FS=205.961;InbreedingCoeff=-0.2737;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0;SOR=7.589	GT:AD:DP:GQ:PL	0/1:36,22:60:99:141,0,546	9	0	6	4
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,38:101:99:.:.:570,0,1598:.	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,44:102:99:.:.:616,0,1596:.	1	0	18	0
chr4	153622988	153622988	G	A	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon29:c.G3950A:p.R1317H,TMEM131L:NM_015196:exon29:c.G3947A:p.R1316H	.	420	1101	1	0	0	1	0.000453926	.	.	.	3339608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0588208891696	.	.	3.3e-05	0	0	0.0001	0	3.004e-05	0	6.062e-05	3.88e-05	6	154602	rs765879905	5.678e-05	5.746e-05	4.628e-05	6.738e-05	0.0003	4.676e-05	4.301e-05	0.0002	0.0001	5.975e-05	0	0	0.0003	0	0.0002	5.306e-05	8.279e-05	4.637e-05	9.855e-05	9.85e-05	0.0001	8.07e-05	0.0004	6.006e-05	4.879e-05	6.813e-05	5.087e-05	7.239e-05	0	6.543e-05	0	0.0004	0	0	0.0001	0	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.31	0.66127	M	1.08	0.48460	T	-1.98	0.45769	N	0.48	0.59648	-0.5380	0.67239	T	0.294	0.66555	T	10	0.22894502	0.39811	T	0.058821	0.67452	D	0.166	0.42578	.	.	0.0934897674506	0.08844	0.4525255567677432	0.45170	0.578139230769	0.53719	0.598208725452	0.52651	T	0.054134	0.35771	T	-0.16341	0.26236	T	-0.208075	0.53879	T	0.389598418939545	0.28549	T	0.940406	0.82399	D	0.21981362	0.44522	0.25214794	0.50839	0.21981362	0.44522	0.25214794	0.50838	-5.222	0.39165	T	.	.	0.523	0.67882	A	.;.;.	.;.;.	5.288587	0.88792	29.7	0.99956775018562016	0.99981	0.90962	0.52592	D	AEFDBHCI	0.733048	0.67961	D	0.756461057280435	0.83326	7.988082	0.745165911305851	0.85797	8.688615	0.999999999995656	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.662433	0.64102	0	.	.	5.69	5.69	0.88346	6.072000	0.70870	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	19.821	0.96589	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1916.33	34	chr4	153622988	.	G	A	1916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=786;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-2.184;SOR=0.812	GT:AD:DP:GQ:PL	0/1:73,73:146:99:1930,0,1763	18	0	1	0
chr4	158861409	158861409	G	A	exonic	FNIP2	.	nonsynonymous SNV	FNIP2:NM_001346043:exon10:c.G154A:p.G52S,FNIP2:NM_001323916:exon11:c.G1285A:p.G429S,FNIP2:NM_020840:exon11:c.G1216A:p.G406S,FNIP2:NM_001366843:exon12:c.G1375A:p.G459S	.	.	.	.	.	.	.	.	.	.	.	3973620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00875149602764	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273551648	1.916e-05	1.915e-05	1.77e-05	2.063e-05	3.478e-05	1.328e-05	1.144e-05	1.295e-05	1.106e-05	0	0	3.826e-05	2.519e-05	0	0	1.979e-05	1.656e-05	3.478e-05	3.287e-05	3.284e-05	2.571e-05	4.037e-05	0.0002	1.261e-05	7.98e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	2.94e-05	0	0	0.757	0.03512	T	0.797	0.04168	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	0.995839	0.23188	N	0.205	0.09354	N	1.69	0.27032	T	-0.65	0.22078	N	0.048	0.01999	-1.0144	0.25529	T	0.041	0.17530	T	8	0.043851376	0.03279	T	0.008751	0.23099	T	0.026	0.05648	0.337	0.32654	0.043077524339	0.03247	0.10788507950555266	0.10717	0.13947928721	0.15718	0.317339420319	0.13017	T	0.005851	0.05296	T	-0.329764	0.06130	T	-0.71146	0.05221	T	0.0209625502829323	0.00797	T	0.814918	0.46941	T	0.07083844	0.15635	0.07260419	0.15682	0.07083844	0.15634	0.07260419	0.15682	-6.672	0.51599	T	.	.	0.051	0.00216	B	.;.	.;.	1.648125	0.21029	15.02	0.71855397676441624	0.09771	0.12745	0.17454	N	AEFDGBHCI	0.052574	0.09396	N	-0.762683123614129	0.14291	0.7106869	-0.639583065373432	0.18479	0.9873925	0.999998332201394	0.74766	0.615465	0.37627	0	0.518115	0.08659	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.95	3.63	0.40741	1.558000	0.35917	5.371000	0.48428	-0.194000	0.09177	0.298000	0.25306	1.000000	0.68203	0.986000	0.61781	0.8439:0.0:0.1561:0.0	8.867	0.34452	869	0.31655	Folliculin-interacting protein, middle domain|Tripartite DENN domain, FNIP1/2-type;Folliculin-interacting protein, middle domain|Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1611.33	35	chr4	158861409	.	G	A	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.907;SOR=0.672	GT:AD:DP:GQ:PL	0/1:77,62:139:99:1625,0,1815	18	0	1	0
chr4	163325337	163325337	T	G	exonic	NPY1R	.	nonsynonymous SNV	NPY1R:NM_000909:exon3:c.A1121C:p.K374T	.	424	1086	10	2	0	14	0.00640439	.	.	.	698417	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.223	0.0188386388825	0.0051	0.00299521	0.0047	0.0013	0.0031	0	0.0021	0.0067	0.0033	0.0032	0.0047735	738	154602	rs5578	0.0064	0.0064	0.0065	0.0063	0.0078	0.0063	0.0063	0.0070	0.0070	0.0008	0.0051	0.0128	0	0.0025	0.0078	0.0071	0.0062	0.0032	0.0048	0.0048	0.0050	0.0046	0.0073	0.0045	0.0044	0.0067	0.0065	0.0014	0	0.0058	0.0135	0	0.0010	0.0102	0.0073	0.0066	0.0029	0.017	0.51248	D	0.211	0.92824	T	0.421	0.35387	B	0.081	0.28987	B	0.000012	0.62929	D	0.000000	0.786954	0.35487	D	1.245	0.31408	L	-0.54	0.70950	T	0.29	0.06026	N	0.327	0.36779	-0.9014	0.47846	T	0.109	0.39462	T	10	0.005621642	0.00125	T	0.018839	0.41032	T	0.223	0.52023	.	.	0.706192701395	0.70363	0.48329671293945403	0.48249	0.985083026492	0.73871	0.593032479286	0.51922	T	0.088526	0.38178	T	-0.321392	0.06785	T	-0.230568	0.51717	T	0.0236821244618137	0.01106	T	0.580842	0.21027	T	0.1348517	0.31318	0.14441551	0.34287	0.1348517	0.31318	0.14441551	0.34286	-3.308	0.13841	T	.	.	0.094	0.14293	B	.;.	.;.	2.603127	0.33792	19.44	0.9957849644518042	0.72861	0.93919	0.59572	D	AEI	0.435174	0.49592	N	-0.124202815787353	0.36340	2.099252	0.0353182802795358	0.41368	2.484112	4.52874083037046E-4	0.07036	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.69	3.13	0.35090	2.421000	0.44343	4.006000	0.41118	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0681:0.1265:0.8054	9.071	0.35654	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.015152	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1293.33	33	chr4	163325337	.	T	G	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.265;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.49;SOR=0.732	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1307,0,1455	18	0	1	0
chr5	1057585	1057585	G	A	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon22:c.C2912T:p.P971L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0517262187236	0.0002	.	6.625e-05	0.0003	8.652e-05	0.0001	0	3.021e-05	0	6.062e-05	5.17e-05	8	154602	rs373266073	2.262e-05	2.257e-05	1.637e-05	2.893e-05	0.0002	1.613e-05	1.419e-05	0.0001	8.675e-05	0.0002	4.474e-05	0	5.039e-05	0	0.0002	1.439e-05	4.97e-05	1.159e-05	0.0001	0.0001	0.0001	8.068e-05	0.0004	7.09e-05	5.747e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	1.47e-05	0.0005	0	0.135	0.26192	T	0.13	0.34716	T	0.053	0.22573	B	0.018	0.18489	B	0.786654	0.09429	N	0.886185	1	0.08975	N	1.87	0.49600	L	-1.07	0.76948	T	-3.08	0.63323	D	0.099	0.08088	-0.8784	0.49888	T	0.274	0.64556	T	10	0.07410991	0.11286	T	0.051726	0.64779	D	0.092	0.26621	.	.	0.454798141022	0.45104	0.19739115739292615	0.19656	0.315350389916	0.33813	0.44849050045	0.31738	T	0.700391	0.91368	D	-0.343998	0.05117	T	-0.401904	0.33163	T	0.0139767489734208	0.00268	T	0.668933	0.27772	T	0.03524199	0.04110	0.04031469	0.04329	0.03524199	0.04110	0.04031469	0.04329	-4.895	0.35678	T	.	.	0.063	0.01491	B	.	.	1.023024	0.14027	10.59	0.6491276636249792	0.07625	0.05639	0.11550	N	AEFDGBI	0.085784	0.17391	N	-1.12339171129501	0.06229	0.2861805	-1.18381708599833	0.06179	0.2966466	0.693632316236433	0.22617	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.39	1.5	0.22029	-0.620000	0.05661	-0.071000	0.12298	-1.758000	0.00680	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2147:0.0:0.611:0.1743	4.597	0.11726	976	0.04745	SLC12A transporter, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2061.33	45	chr5	1057585	.	G	A	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1094;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.052;SOR=0.714	GT:AD:DP:GQ:PL	0/1:60,77:137:99:2075,0,1389	18	0	1	0
chr5	7873442	7873442	G	A	exonic	MTRR	.	nonsynonymous SNV	MTRR:NM_001364440:exon3:c.G199A:p.D67N,MTRR:NM_001364441:exon3:c.G199A:p.D67N,MTRR:NM_001364442:exon3:c.G199A:p.D67N,MTRR:NM_002454:exon3:c.G199A:p.D67N,MTRR:NM_024010:exon3:c.G199A:p.D67N	Homocystinuria-megaloblastic anemia, cbl E type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.0424712301691	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs761784045	1.3e-05	1.3e-05	1.361e-05	1.238e-05	1.619e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	1.159e-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	0.004	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.046413	1	0.81001	D	3.435	0.92070	M	-0.05	0.63403	T	-3.69	0.78135	D	0.664	0.67304	0.135	0.84794	D	0.518	0.81975	D	10	0.70421314	0.72634	D	0.042471	0.60483	D	0.452	0.75211	0.56	0.67958	0.865406547505	0.86410	0.7834604532934296	0.78297	0.311889514168	0.33491	0.556776165962	0.46812	T	.	.	.	0.00443075	0.52264	T	-0.231412	0.51636	T	0.974632637438591	0.70591	D	0.962304	0.86183	D	0.5303346	0.68849	0.44441906	0.67624	0.5303346	0.68850	0.44441906	0.67624	-8.98	0.67903	D	0.6542797482986111	0.72688	0.118	0.48469	B	.;.;.;.	.;.;.;.	5.405288	0.90499	31	0.99925795888838642	0.99042	0.98369	0.82077	D	AEFDGBIJ	0.890464	0.82553	D	0.949003593191699	0.93946	12.38899	0.902348182254986	0.95674	13.85265	0.999999999999997	0.74766	0.706298	0.61202	0	0.516746	0.08562	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	8.080000	0.89319	11.661000	0.93987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.773	0.96375	740	0.53092	Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1396.33	33	chr5	7873442	.	G	A	1396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.87;DP=766;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.612;SOR=0.622	GT:AD:DP:GQ:PL	0/1:74,61:135:99:1410,0,1678	18	0	1	0
chr5	14751196	14751196	C	T	exonic	ANKH	.	nonsynonymous SNV	ANKH:NM_054027:exon5:c.G560A:p.R187Q	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant	0	1513	8	1	0	10	0.00329381	.	.	.	301621	ANKH-related_disorder|not_provided|Chondrocalcinosis_2|not_specified|Craniometaphyseal_dysplasia,_autosomal_dominant	.|MedGen:C3661900|MONDO:MONDO:0007319,MedGen:C0856830,OMIM:118600,Orphanet:1416|MedGen:CN169374|MONDO:MONDO:0007397,MedGen:C1852502,OMIM:123000,Orphanet:1522	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.308	0.108883188274	0.0056	0.00179712	0.0031	0.0009	0.0007	0	0.0005	0.0048	0.0044	0.0022	0.0033958	525	154602	rs146886108	0.0054	0.0054	0.0055	0.0053	0.0065	0.0053	0.0052	0.0064	0.0064	0.0008	0.0013	7.652e-05	7.557e-05	0.0005	0.0028	0.0065	0.0047	0.0021	0.0033	0.0033	0.0037	0.0029	0.0059	0.0031	0.0030	0.0054	0.0052	0.0011	0.0022	0.0028	0	0	0.0002	0	0.0059	0.0019	0.0019	0.796	0.03150	T	0.627	0.07267	T	0.811	0.45403	P	0.238	0.38539	B	0.000033	0.55875	D	0.159419	0.938045	0.81001	D	0	0.06538	N	-3.45	0.94469	D	0.38	0.03579	N	0.335	0.37613	-0.0804	0.80545	T	0.421	0.76603	T	10	0.013764143	0.00291	T	0.108883	0.78561	D	0.308	0.62947	.	.	0.852315435993	0.85089	0.2346333226589455	0.23378	1.02054565552	0.75098	0.462013542652	0.33587	T	0.40559	0.76172	T	-0.284642	0.10181	T	-0.173683	0.57105	T	0.0222127914652502	0.00933	T	0.857914	0.54791	D	0.047855694	0.08248	0.04917899	0.07460	0.047855694	0.08247	0.04917899	0.07460	-3.772	0.20387	T	0.08777392143704406	0.05193	0.071	0.04002	B	.	.	2.796443	0.36774	20.3	0.92613854909939697	0.22080	0.77807	0.38300	D	AEFDBI	0.159931	0.28580	N	-0.354397850382536	0.27111	1.484849	-0.196141527609113	0.31677	1.795026	0.999990766592323	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	4.65	0.57626	2.163000	0.42004	4.798000	0.44948	-0.172000	0.11096	0.888000	0.31154	1.000000	0.68203	0.989000	0.64315	0.0:0.9266:0.0:0.0734	13.739	0.62322	883	0.28872	.	.	.	.	.	.	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	0.002022	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	3067.83	33	chr5	14751196	.	C	T	3067.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.91;DP=840;ExcessHet=0.119;FS=5.31;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.746;SOR=0.759	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1664,0,1546	17	0	2	0
chr5	23527321	23527321	G	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.G2233A:p.E745K,PRDM9:NM_001376900:exon11:c.G2233A:p.E745K,PRDM9:NM_020227:exon11:c.G2233A:p.E745K	.	456	1043	21	2	0	25	0.0118427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.00977339509489	0.0017	0.00159744	0.0029	0.0003	0.0011	0	0.0015	0.0034	0.0078	0.0058	0.0024644	381	154602	rs200775234	0.0011	0.0011	0.0009	0.0013	0.0043	0.0010	0.0010	0.0029	0.0026	0.0003	0.0009	0.0012	0	0.0022	0.0043	0.0009	0.0016	0.0030	0.0014	0.0012	0.0013	0.0015	0.0026	0.0012	0.0011	0.0019	0.0017	0.0004	0	0.0003	0.0015	0	0.0008	0	0.0022	0	0.0026	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.998	0.44873	D	1.33	0.33268	L	1.86	0.24285	T	-2.95	0.61580	D	0.26	0.29429	-0.9912	0.32295	T	0.109	0.39486	T	9	0.0102799535	0.00229	T	0.009773	0.25495	T	0.147	0.38986	.	.	0.343101102393	0.33919	0.032077077140900793	0.03155	0.612812136112	0.55868	0.547179818153	0.45459	T	0.318052	0.68946	T	-0.429581	0.01491	T	-0.458662	0.26745	T	0.0573300883913925	0.06742	T	0.721828	0.33531	T	0.55868036	0.70436	0.5460424	0.73759	0.55868036	0.70437	0.5460424	0.73759	-9.071	0.68152	D	.	.	0.690	0.72532	P	.	.	3.400971	0.47136	22.4	0.99897617663845151	0.97048	0.88135	0.47931	D	AEFGBI	0.319231	0.42269	N	0.279155056986675	0.55093	3.673641	0.167347014552524	0.48069	3.02787	0.999764070348671	0.42728	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.0	3.0	0.33773	3.324000	0.51734	0.521000	0.19165	0.593000	0.32247	1.000000	0.71638	0.003000	0.18671	0.448000	0.27851	0.0:0.0:1.0:0.0	12.163	0.53420	984	0.02857	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	0.006878	0.000000	0.002717	0.008197	0.000000	0.008621	0.015244	0.015152	0.02632	2563.33	162	chr5	23527321	.	G	A	2563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.458;DP=3115;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.73;MQRankSum=2.14;QD=11.1;ReadPosRankSum=-1.187;SOR=0.618	GT:AD:DP:GQ:PL	0/1:121,110:231:99:2577,0,3082	18	0	1	0
chr5	37213580	37213580	G	A	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon16:c.C2899T:p.P967S,CPLANE1:NM_023073:exon16:c.C2899T:p.P967S	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.0468746484885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1329332026	5.032e-06	1.163e-05	4.253e-06	5.834e-06	2.868e-05	2.09e-06	1.35e-06	2.01e-06	1.32e-06	0	2.868e-05	0	0	0	0	5.586e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.026	0.92824	D	.	.	.	.	.	.	0.000155	0.49130	U	0.082793	0.928174	0.81001	D	.	.	.	1.3	0.35590	T	-5.16	0.83422	D	0.552	0.57775	-0.8122	0.54417	T	0.170	0.51101	T	10	0.61122155	0.67455	D	0.046875	0.62662	D	0.312	0.63375	0.545	0.65873	0.575612498716	0.57230	0.4951824790137009	0.49439	0.573132785276	0.53379	.	.	.	0.290365	0.66313	T	0.110042	0.65357	D	-0.0797082	0.64925	T	0.995231688022614	0.87065	D	0.856914	0.55036	D	0.28629795	0.51646	0.43557924	0.67039	0.28629795	0.51646	0.43557924	0.67040	-4.023	0.24147	T	0.6774638901809924	0.75337	0.229	0.50287	B	.;.;.	.;.;.	4.661072	0.74398	26.2	0.99639134675391983	0.76571	0.98195	0.80430	D	AEFBI	0.783918	0.71476	D	0.713151391937804	0.80493	7.306688	0.712878242895202	0.83355	8.000369	0.999999999773213	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.090000	0.76577	9.600000	0.81064	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0749:0.0:0.9251:0.0	13.552	0.61199	151	0.94052	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1942.33	34	chr5	37213580	.	G	A	1942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=807;ExcessHet=0;FS=2.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.1;SOR=0.495	GT:AD:DP:GQ:PL	0/1:92,83:175:99:1956,0,2229	18	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,16:94:16:.:.:16,0,1564:.	9	0	10	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1942,0,1761	10	1	8	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1942,0,1761	9	1	8	1
chr5	95736964	95736964	G	A	exonic	RHOBTB3	.	nonsynonymous SNV	RHOBTB3:NM_014899:exon3:c.G304A:p.V102I	.	441	1070	10	1	0	12	0.00557621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0296762635136	0.0024	0.00179712	0.0032	0.0009	0.0009	0.0001	0.0011	0.0047	0.0033	0.0026	0.0032082	496	154602	rs139206452	0.0037	0.0037	0.0038	0.0037	0.0056	0.0036	0.0036	0.0041	0.0041	0.0007	0.0009	0.0017	0.0002	0.0014	0.0056	0.0042	0.0030	0.0039	0.0028	0.0028	0.0028	0.0028	0.0052	0.0026	0.0025	0.0048	0.0046	0.0007	0	0.0006	0.0009	0	0.0013	0.0034	0.0052	0.0024	0.0027	0.017	0.51248	D	0.0	0.92824	D	0.086	0.24919	B	0.051	0.25434	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-0.91	0.75001	T	-0.27	0.11366	N	0.681	0.68777	-0.6947	0.60689	T	0.231	0.59682	T	10	0.008789331	0.00199	T	0.029676	0.52141	D	0.315	0.63694	.	.	0.682231382889	0.67952	0.3830172242866074	0.38216	1.10607612278	0.77899	0.671263933182	0.63019	T	0.209153	0.56928	T	-0.272354	0.11496	T	-0.163316	0.58051	T	0.0198687812789206	0.00689	T	0.880812	0.59928	D	0.092037424	0.21582	0.11285335	0.27232	0.092037424	0.21581	0.11285335	0.27231	-3.776	0.20446	T	.	.	0.14	0.30686	B	.;.	.;.	4.061827	0.60284	24.2	0.99730910239121795	0.82761	0.96788	0.70942	D	AEFBCI	0.881303	0.80855	D	0.0908954905928116	0.46040	2.850536	0.304399966590835	0.55797	3.742608	0.999999999989945	0.74766	0.643511	0.44296	0	0.633656	0.55848	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	6.01	6.01	0.97420	7.755000	0.84048	11.924000	0.99849	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.121	0.97960	537	0.73184	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.017241	0.006098	0.007576	0.02632	1218.33	34	chr5	95736964	.	G	A	1218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.486;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.358;SOR=0.646	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1232,0,1321	18	0	1	0
chr5	110640969	110640969	A	T	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon4:c.T265A:p.S89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00292549856556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220763424	8.684e-06	8.209e-06	4.28e-06	1.322e-05	0.0002	4.63e-06	3.66e-06	6.201e-05	4.652e-05	0	0	0	0	0	0.0002	0	3.497e-05	0.0001	6.569e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.584	0.06106	T	0.186	0.30631	T	0.008	0.14655	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.72	0.24676	N	0.148	0.15046	-1.0179	0.24398	T	0.065	0.26878	T	7	0.029526472	0.01079	T	0.002925	0.06192	T	0.038	0.09825	0.186	0.09517	0.0138822411134	0.00435	0.02203804810128695	0.02155	.	.	0.252247542143	0.04008	T	0.005684	0.05129	T	-0.321074	0.06810	T	-0.50066	0.22280	T	0.0352388796809914	0.02849	T	0.429357	0.11628	T	0.073508196	0.16430	0.07548655	0.16623	0.073508196	0.16430	0.07548655	0.16623	-4.117	0.25540	T	.	.	0.078	0.07793	B	.;.;.;.	.;.;.;.	0.282579	0.06594	3.085	0.26746208929224174	0.01295	0.04027	0.09462	N	AEFI	0.057605	0.10746	N	-0.885740717179909	0.11181	0.5382066	-0.876815858888737	0.12644	0.6516169	1.15848290477671E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	0.014	0.13420	0.902000	0.28088	0.532000	0.19257	0.691000	0.84096	0.027000	0.20232	0.000000	0.08366	0.307000	0.24666	0.6771:0.2033:0.0:0.1196	8.972	0.35072	899	0.25060	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	981.33	36	chr5	110640969	.	A	T	981.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.688;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0;SOR=0.703	GT:AD:DP:GQ:PL	0/1:36,41:77:99:995,0,795	18	0	1	0
chr5	119148942	119148942	A	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon18:c.A3115T:p.S1039C,DMXL1:NM_001290322:exon18:c.A2596T:p.S866C,DMXL1:NM_005509:exon18:c.A3115T:p.S1039C,DMXL1:NM_001349239:exon19:c.A3115T:p.S1039C,DMXL1:NM_001349240:exon19:c.A3115T:p.S1039C	.	423	1081	18	0	0	18	0.00825688	.	.	.	3199238	DMXL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.061	0.0208012841409	0.0015	0.00159744	0.0020	0.0005	0.0009	0	0.0005	0.0022	0.0011	0.0046	0.0019599	303	154602	rs149431940	0.0021	0.0021	0.0019	0.0022	0.0056	0.0020	0.0020	0.0051	0.0050	0.0005	0.0008	0.0078	2.52e-05	0.0003	0.0052	0.0019	0.0023	0.0056	0.0017	0.0017	0.0019	0.0016	0.0052	0.0015	0.0015	0.0036	0.0031	0.0006	0	0.0007	0.0075	0	9.406e-05	0.0136	0.0024	0.0028	0.0052	0.009	0.57480	D	.	.	.	0.895	0.49247	P	0.716	0.54713	P	0.000029	0.55875	D	0.189059	0.579853	0.32365	D	0.695	0.17993	N	1.38	0.34050	T	-1.23	0.31170	N	0.363	0.40465	-0.8849	0.49365	T	0.089	0.34188	T	10	0.0051154494	0.00111	T	0.020801	0.43464	T	0.061	0.17616	.	.	0.151262610727	0.14761	0.45893462374903576	0.45811	0.235143820594	0.26041	0.435257196426	0.29929	T	0.024995	0.21180	T	-0.444269	0.01221	T	-0.409847	0.32243	T	0.0382965835248343	0.03384	T	0.857714	0.54741	D	0.09775555	0.23047	0.098359466	0.23446	0.09775555	0.23047	0.098359466	0.23445	-6.176	0.47728	T	.	.	0.072	0.04238	B	.;.	.;.	4.114259	0.61441	24.3	0.99038541941784364	0.50962	0.91893	0.54491	D	AEFBI	0.271313	0.38719	N	0.333491220154494	0.57874	3.956687	0.389902152134229	0.60942	4.287613	0.828160635944893	0.24645	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.5	4.2	0.48814	2.484000	0.44900	8.081000	0.76481	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.6798:0.0:0.3202:0.0	3.541	0.07368	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05263	5329.83	36	chr5	119148942	.	A	T	5329.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.399;DP=993;ExcessHet=0.119;FS=0.757;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.26;SOR=0.742	GT:AD:DP:GQ:PL	0/1:100,93:193:99:2378,0,2567	17	0	2	0
chr5	122020682	122020682	A	G	exonic	SRFBP1	.	nonsynonymous SNV	SRFBP1:NM_152546:exon6:c.A947G:p.K316R	.	427	1094	1	0	0	1	0.00045683	.	.	.	3330546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0050722624373	8.4e-05	.	9.199e-05	0	8.682e-05	0	0	0.0002	0	0	7.12e-05	11	154602	rs371416189	5.2e-05	5.199e-05	4.901e-05	5.501e-05	0.0003	4.259e-05	3.889e-05	6.092e-05	3.658e-05	0	2.237e-05	0	2.52e-05	0	0.0003	5.127e-05	0.0001	9.279e-05	9.847e-05	9.843e-05	0.0001	5.37e-05	0.0002	6.001e-05	4.875e-05	0.0001	7.894e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.135	0.26192	T	0.33	0.18560	T	0.001	0.07471	B	0.002	0.06944	B	0.001140	0.40136	N	0.290858	1	0.08975	N	1.21	0.30464	L	.	.	.	-0.81	0.22294	N	0.083	0.05929	-1.0520	0.13845	T	0.058	0.24279	T	9	0.056292832	0.06286	T	0.005072	0.12846	T	0.019	0.03383	.	.	0.110078149338	0.10416	0.032443386657624786	0.03192	0.00578835925109	0.00504	0.196809589863	0.00370	T	0.080278	0.36325	T	-0.387002	0.02812	T	-0.601995	0.12643	T	0.0249620897678173	0.01268	T	0.407359	0.10471	T	0.037836257	0.04926	0.04783227	0.06976	0.037836257	0.04925	0.04783227	0.06976	-4.953	0.36325	T	.	.	0.073	0.04764	B	.	.	0.348416	0.07216	3.810	0.93223990533780343	0.22902	0.61612	0.31536	D	AEFDGBI	0.090412	0.18320	N	-0.793985775409907	0.13466	0.6635571	-0.770632434786595	0.15217	0.7991507	0.998194597088223	0.36560	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	2.61	0.30255	1.559000	0.35928	1.427000	0.26414	0.752000	0.88150	0.157000	0.23755	0.994000	0.32194	0.069000	0.16583	0.6635:0.1619:0.1746:0.0	4.660	0.12023	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05263	3896.83	34	chr5	122020682	.	A	G	3896.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.346;DP=917;ExcessHet=0.119;FS=3.89;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.246;SOR=0.933	GT:AD:DP:GQ:PL	0/1:73,74:147:99:2002,0,2043	17	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	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,25:105:69:0|1:139887481_C_T:69,0,2531:139887481	10	0	7	2
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	.	.	.	.	.	.	.	.	0.2059	1237.29	191	chr5	139887483	.	C	G	1237.29	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.683;DP=1976;ExcessHet=5.3738;FS=248.454;InbreedingCoeff=-0.3809;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.756;SOR=11.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,25:105:69:0|1:139887481_C_T:69,0,2531:139887481	10	0	7	2
chr5	141095628	141095628	T	C	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.T838C:p.S280P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0015	0.00239617	0.0005	0.0054	0	0	0	0	0	0	0.0004592	71	154602	rs141503134	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0055	0.0053	0.0062	0.0002	0	0	0	0	7.194e-06	0.0003	1.159e-05	0.0016	0.0016	0.0017	0.0016	0.0057	0.0015	0.0014	0.0051	0.0049	0.0057	0	0.0006	0	0	0	0	1.47e-05	0.0019	0	0.004	0.65419	D	0.011	0.64786	D	0.992	0.64738	D	0.905	0.64260	P	.	.	.	.	0.996198	0.23088	N	2.695	0.78878	M	0.56	0.54540	T	-3.89	0.72820	D	0.455	0.49237	-0.6877	0.61015	T	0.361	0.72231	T	9	0.0117914975	0.00256	T	.	.	.	0.207	0.49555	.	.	0.438701194649	0.43488	0.35442614680974843	0.35356	.	.	0.329510092735	0.14859	T	0.071646	0.34258	T	-0.375825	0.03309	T	-0.310981	0.43552	T	0.0857660051821816	0.10707	T	0.0857914	0.00629	T	0.62185293	0.73862	0.7516595	0.85321	0.62185293	0.73864	0.7516595	0.85322	-13.202	0.90177	D	.	.	0.500	0.64577	A	.	.	2.229305	0.28453	17.80	0.99805651365011072	0.88995	0.18389	0.20240	N	AEFDBCI	0.353873	0.44615	N	0.135301682316245	0.48115	3.028082	-0.0578000188132546	0.37154	2.17166	0.991837927928191	0.32625	0.766844	0.99359	0	0.573888	0.26702	0	0.851219	0.99655	0	0.616125	0.45549	0	.	.	5.42	1.54	0.22290	-2.144000	0.01383	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.5236:0.0:0.1164:0.36	7.147	0.24767	460	0.78750	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2497.33	33	chr5	141095628	.	T	C	2497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.264;DP=1082;ExcessHet=0;FS=1.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.158;SOR=0.561	GT:AD:DP:GQ:PL	0/1:84,88:172:99:2511,0,2271	18	0	1	0
chr5	141180333	141180333	C	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C2299A:p.L767I	.	433	126	416	533	14	1496	0.854671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0157502002775	.	0.00139776	0.0021	0.0002	0.0035	0	0	0.0028	0.0022	0.0012	0.0019793	306	154602	rs2740583	0.0024	0.0024	0.0023	0.0024	0.0044	0.0023	0.0023	0.0031	0.0029	0.0002	0.0036	0.0037	0	0.0002	0.0044	0.0026	0.0024	0.0015	0.0017	0.0017	0.0016	0.0017	0.0042	0.0015	0.0014	0.0034	0.0031	0.0003	0	0.0042	0.0014	0.0002	9.484e-05	0.0136	0.0022	0.0019	0.0021	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	0.08658171	0.14730	T	.	.	.	.	.	.	.	.	.	0.04216645308251248	0.04161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01960	B	.	.	1.975943	0.25099	16.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.368000	0.43875	.	.	-0.108000	0.15293	0.359000	0.25834	0.992000	0.31684	0.001000	0.02609	.	.	.	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	42270.7	106	chr5	141180333	.	C	A	42270.7	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.159;DP=2074;ExcessHet=2.8258;FS=0.614;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=-0.017;SOR=0.752	GT:AD:DP:GQ:PL	0/1:0,55:125:99:3545,2044,1879	17	0	2	0
chr5	141184048	141184048	C	T	exonic	PCDHB16	.	nonsynonymous SNV	PCDHB16:NM_020957:exon1:c.C1489T:p.H497Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00222974185896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	6.841e-07	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	0.542504	0.05322	N	1.350290	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.14	0.13911	-0.9468	0.41515	T	0.012	0.04700	T	10	0.1919395	0.34902	T	0.00223	0.04233	T	.	.	0.392	0.41606	0.505826522194	0.50221	0.10545202690760982	0.10475	.	.	0.448893845081	0.31792	T	.	.	.	-0.239155	0.15456	T	-0.581306	0.14428	T	0.185378936607737	0.19568	T	0.808919	0.45897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.15430	B	.;.	.;.	1.691096	0.21548	15.25	0.96649310382928078	0.30585	0.36805	0.25618	N	AEFBI	0.110316	0.21880	N	-0.237490499398201	0.31607	1.773912	-0.419985883339092	0.24411	1.336593	0.00269442952609593	0.09639	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	2.34	0.28071	0.030000	0.13576	.	.	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1422:0.544:0.2088:0.105	3.786	0.08217	650	0.62973	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000544	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1219.33	54	chr5	141184048	.	C	T	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.162;DP=1165;ExcessHet=0;FS=3.424;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.29;MQRankSum=-0.218;QD=13.86;ReadPosRankSum=-1.174;SOR=0.154	GT:AD:DP:GQ:PL	0/1:48,40:88:99:1233,0,1682	18	0	1	0
chr5	141209662	141209662	T	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.T755G:p.L252R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00440904900943	0.0014	0.00159744	0.0004	0.0032	0.0009	0	0	0.0001	0	0	0.0003816	59	154602	rs144462785	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0037	0.0035	0.0043	0.0004	0	2.519e-05	0	0.0009	5.396e-05	0.0005	8.115e-05	0.0012	0.0012	0.0012	0.0012	0.0035	0.0011	0.0010	0.0030	0.0028	0.0035	0	0.0020	0	0	0	0	0.0001	0.0019	0.0004	0.119	0.28026	T	0.257	0.23231	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.56	0.15190	N	4.65	0.01779	T	0.21	0.04776	N	0.092	0.07125	-0.8957	0.48418	T	0.005	0.01506	T	9	0.009988278	0.00224	T	0.004409	0.10781	T	0.011	0.01250	.	.	0.0611884634855	0.05136	0.04597660912678614	0.04541	0.286669972311	0.31060	0.264499992132	0.05438	T	0.001739	0.01167	T	-0.643863	0.00079	T	-0.698161	0.05926	T	0.00177542081647231	0.00018	T	0.0637936	0.00464	T	0.07739511	0.17565	0.087317914	0.20287	0.07739511	0.17564	0.087317914	0.20286	-5.575	0.42563	T	.	.	0.067	0.02399	B	.	.	1.096239	0.14803	11.34	0.54465595835437197	0.05143	0.05121	0.10926	N	AEFDBI	0.111076	0.22003	N	-1.41997483026141	0.02463	0.108816	-1.43740452797072	0.02886	0.1336096	0.00185977683978748	0.08948	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.16	1.33	0.20958	-1.789000	0.01857	.	.	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.1269:0.3889:0.2254:0.2588	1.453	0.02236	692	0.58729	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2405.33	33	chr5	141209662	.	T	G	2405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.987;DP=825;ExcessHet=0;FS=0.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.286;SOR=0.653	GT:AD:DP:GQ:PL	0/1:100,104:204:99:2419,0,2690	18	0	1	0
chr5	141224354	141224354	T	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.T849A:p.H283Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00438423606058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.481e-06	5.472e-06	4.089e-06	6.888e-06	0.0002	2.36e-06	1.7e-06	4.097e-05	2.383e-05	0.0001	0	0	0	0	0.0002	1.8e-06	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.14	0.04484	N	0.84	0.47477	T	-1.14	0.29323	N	0.111	0.26957	-0.9978	0.30535	T	0.034	0.14596	T	9	0.04085371	0.02690	T	0.004384	0.10687	T	0.071	0.20720	0.209	0.12639	0.341934017632	0.33809	0.06792090402544688	0.06730	0.545865346481	0.51599	0.351763188839	0.18181	T	8.58E-4	0.00427	T	-0.270778	0.11670	T	-0.62673	0.10663	T	0.0655093816127192	0.08007	T	0.559944	0.21248	T	0.051222015	0.09374	0.08190087	0.18649	0.051222015	0.09373	0.08190087	0.18649	-5.055	0.37431	T	.	.	0.147	0.32396	B	.;.	.;.	0.282214	0.06588	3.081	0.29803052225880339	0.01599	0.09238	0.15034	N	AEFBI	0.149099	0.27313	N	-1.17874245565841	0.05321	0.2423335	-1.07008810479523	0.08293	0.407158	7.94347136004398E-5	0.04552	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.61	2.2	0.26966	-1.166000	0.03239	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.677000	0.33454	0.2425:0.163:0.1334:0.4611	0.603	0.00700	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1998.33	66	chr5	141224354	.	T	A	1998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=864;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.281;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,54:116:99:0|1:141224354_T_A:2012,0,2348:141224354	18	0	1	0
chr5	141224364	141224364	G	-	exonic	PCDHB14	.	frameshift deletion	PCDHB14:NM_018934:exon1:c.859delG:p.D287Ifs*17	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.00419329	0.0013	0.0134	8.648e-05	0	0	0.0002	0	6.463e-05	0.0002305	6	26028	rs77544263	0.0005	0.0005	0.0005	0.0004	0.0137	0.0005	0.0004	0.0127	0.0123	0.0137	0.0003	0.0031	0	0	0.0037	4.682e-05	0.0013	2.352e-05	0.0037	0.0037	0.0040	0.0034	0.0126	0.0035	0.0034	0.0118	0.0114	0.0126	0	0.0007	0.0020	0	0	0.0136	0.0001	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007049	0.000000	0.013587	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1953.29	66	chr5	141224363	.	AG	A	1953.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=865;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=1.49;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,53:117:99:0|1:141224354_T_A:1967,0,2439:141224354	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,53:202:99:.:.:248,0,4445:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,77:205:99:.:.:1543,0,2974:.	1	0	18	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:204,64:268:68:68,0,4495	8	0	11	0
chr5	141490981	141490981	C	T	exonic	PCDHGC5	.	nonsynonymous SNV	PCDHGC5:NM_018929:exon1:c.C1741T:p.R581C,PCDHGC5:NM_032407:exon1:c.C1741T:p.R581C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.032263979169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3e-05	1.368e-05	1.906e-05	6.876e-06	1.619e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.002	0.79402	D	0.997	0.90584	D	0.917	0.65306	D	0.000033	0.55875	D	0.000000	1	0.81001	D	3.39	0.91563	M	0.7	0.51474	T	-5.55	0.86222	D	0.356	0.39760	-0.2633	0.75997	T	0.337	0.70379	T	10	0.48610663	0.60717	T	0.032264	0.54139	D	0.272	0.58758	0.635	0.77142	0.78846018172	0.78650	0.43016415100622335	0.42933	1.20945217804	0.80786	0.630709171295	0.57246	T	0.322179	0.69321	T	0.0828118	0.62368	D	-0.118823	0.61899	T	0.977789759635925	0.72009	D	0.859714	0.71494	D	0.3264657	0.55180	0.4777061	0.69742	0.3264657	0.55180	0.4777061	0.69743	-8.837	0.66642	D	.	.	0.231	0.46619	B	.;.	.;.	5.146238	0.86174	28.8	0.999202350520911	0.98721	0.47184	0.27926	N	AEFGBCI	0.462715	0.51193	N	0.550199815949778	0.70095	5.451332	0.4514214383909	0.64806	4.744711	0.999999984648982	0.74766	0.59774	0.34471	0	0.550933	0.16991	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.45	5.45	0.79688	0.626000	0.24185	.	.	0.599000	0.40250	0.013000	0.18845	1.000000	0.68203	1.000000	0.97212	0.1516:0.8484:0.0:0.0	13.978	0.63795	727	0.54702	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	.	.	.	.	.	.	.	.	0.05263	3723.83	33	chr5	141490981	.	C	T	3723.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.63;DP=1126;ExcessHet=0.119;FS=0.447;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:69,73:142:99:2181,0,1712	17	0	2	0
chr5	142315084	142315084	C	T	exonic	SPRY4	.	nonsynonymous SNV	SPRY4:NM_001127496:exon2:c.G25A:p.A9T,SPRY4:NM_001293290:exon2:c.G25A:p.A9T,SPRY4:NM_001293289:exon3:c.G25A:p.A9T,SPRY4:NM_030964:exon3:c.G94A:p.A32T	Hypogonadotropic hypogonadism 17 with or without anosmia, Autosomal dominant	421	1088	11	2	0	15	0.00684619	.	.	.	734890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0182715778717	0.0004	0.00159744	0.0015	0.0003	8.859e-05	0	0	0.0004	0.0048	0.0083	0.0012096	187	154602	rs77566564	0.0007	0.0007	0.0004	0.0009	0.0072	0.0006	0.0006	0.0067	0.0066	0.0001	0.0001	0	0	0	0.0042	0.0003	0.0007	0.0072	0.0004	0.0004	0.0004	0.0005	0.0053	0.0004	0.0003	0.0037	0.0031	0.0001	0	0.0003	0	0.0002	9.595e-05	0.0102	0.0004	0.0010	0.0053	0.205	0.41364	T	0.464	0.12456	T	0.012	0.16265	B	0.004	0.10090	B	0.000977	0.40836	D	0.237265	0.999806	0.20292	N	0	0.06538	N	-0.04	0.63240	T	-0.39	0.25118	N	0.017	0.01658	-1.0677	0.09926	T	0.085	0.33043	T	10	0.005420089	0.00119	T	0.018272	0.40277	T	0.105	0.29889	.	.	0.449860987313	0.44609	0.23363481249207993	0.23278	0.333227569698	0.35360	0.317415773869	0.13029	T	0.007488	0.37643	T	-0.487173	0.00673	T	-0.467158	0.25823	T	0.00975373414029486	0.00128	T	0.522448	0.17034	T	0.052368324	0.09758	0.043977812	0.05596	0.05321057	0.10034	0.04214595	0.04952	-3.54	0.16996	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	1.920549	0.24395	16.38	0.75652680651852433	0.11158	0.67658	0.33513	D	AEFDBCI	0.140622	0.26257	N	-0.840794360252147	0.12277	0.5974489	-0.652796878832132	0.18146	0.9680756	0.999963679529259	0.48965	0.722319	0.85440	0	0.54472	0.11627	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.5	1.03	0.19161	1.882000	0.39283	0.275000	0.16702	-1.025000	0.01715	1.000000	0.71638	0.000000	0.08366	0.959000	0.51448	0.0:0.2663:0.3201:0.4135	4.234	0.10070	793	0.45818	.;.;.	.	.	.	.	.	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	0.006048	0.000000	0.004076	0.011696	0.000000	0.008621	0.006098	0.007576	0.05263	3648.83	35	chr5	142315084	.	C	T	3648.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=884;ExcessHet=0.119;FS=5.711;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.449;SOR=0.909	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1741,0,1412	17	0	2	0
chr5	151030643	151030643	T	C	exonic	TNIP1	.	stoploss	TNIP1:NM_001364486:exon17:c.A1748G:p.X583W,TNIP1:NM_001252392:exon18:c.A1907G:p.X636W,TNIP1:NM_001252393:exon18:c.A1907G:p.X636W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.26e-05	0	0	0	0	0	0	8.147e-05	6.5e-06	1	154602	rs755178311	1.37e-06	1.368e-06	0	2.755e-06	2.33e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.33e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.25750	N	.	.	.	.	.	.	.	.	.	0.092	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.43722	0.01343	T	-0.765182	0.02929	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.730934	0.11002	7.661	0.73832945076873802	0.10472	0.17490	0.19860	N	AEFDBCIJ	.	.	.	-0.514185192026367	0.21620	1.148755	-0.623761908656701	0.18883	1.010739	0.981168104466304	0.30226	0.295142	0.05270	0	0.271743	0.05004	0	0.292756	0.05521	0	0.322829	0.05601	0	0.203978	0.30641	5.62	3.09	0.34677	0.059000	0.14199	-0.114000	0.11796	-0.169000	0.11342	0.015000	0.19116	0.028000	0.21151	0.006000	0.07323	0.1748:0.0882:0.0:0.7369	4.962	0.13421	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	885.83	34	chr5	151030643	.	T	C	885.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.526;DP=696;ExcessHet=0.119;FS=0.851;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=2.38;SOR=0.804	GT:AD:DP:GQ:PL	0/1:29,15:44:99:388,0,821	17	0	2	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:78,36:125:93:93,0,1401	4	0	14	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,207:445:99:.:.:19109,9772,9077:.	5	7	6	1
chr5	159161427	159161427	T	C	exonic	RNF145	.	nonsynonymous SNV	RNF145:NM_001199380:exon10:c.A1555G:p.I519V,RNF145:NM_001199381:exon10:c.A1516G:p.I506V,RNF145:NM_001199382:exon10:c.A1507G:p.I503V,RNF145:NM_001199383:exon10:c.A1465G:p.I489V,RNF145:NM_144726:exon10:c.A1549G:p.I517V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0321084093921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.53172	T	1.0	0.01155	T	0.069	0.26116	B	0.057	0.30390	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.6	0.02229	N	-1.04	0.78427	T	-0.02	0.19085	N	0.487	0.54671	-0.7862	0.55950	T	0.155	0.48687	T	10	0.22028938	0.38722	T	0.032108	0.54021	D	0.348	0.66956	0.381	0.39807	0.848737276254	0.84728	0.5429635205572487	0.54221	1.5713921237	0.88187	0.809239268303	0.83376	D	0.025021	0.18789	T	0.0879092	0.62953	D	-0.111501	0.62491	T	0.599808037281036	0.36392	D	0.910909	0.68443	D	0.08185151	0.18826	0.14571664	0.34550	0.08185151	0.18826	0.14571664	0.34549	-4.068	0.29557	T	.	.	0.428	0.63300	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.659358	0.34646	19.68	0.97983499804003948	0.37341	0.94498	0.61359	D	AEFDBHCI	0.933662	0.92588	D	-0.253708838070544	0.30955	1.731042	0.0519839670437108	0.42167	2.54587	0.999999999999995	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.908000	0.86831	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.109	0.81055	893	0.26510	.;TRC8 N-terminal domain;TRC8 N-terminal domain;TRC8 N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	104.67	91	chr5	159161427	.	T	C	104.67	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.939;DP=1225;ExcessHet=0.3672;FS=123.785;InbreedingCoeff=-0.0973;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.61;SOR=9.022	GT:AD:DP:GQ:PL	0/1:61,22:83:56:56,0,1204	15	0	3	1
chr5	160093184	160093184	G	C	exonic	PWWP2A	.	nonsynonymous SNV	PWWP2A:NM_001130864:exon2:c.C1466G:p.S489C,PWWP2A:NM_001267035:exon2:c.C1466G:p.S489C,PWWP2A:NM_052927:exon2:c.C1466G:p.S489C,PWWP2A:NM_001349733:exon3:c.C815G:p.S272C,PWWP2A:NM_001349735:exon3:c.C815G:p.S272C,PWWP2A:NM_001349732:exon4:c.C815G:p.S272C,PWWP2A:NM_001349734:exon4:c.C815G:p.S272C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0202613134518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.1	0.28011	L	1.21	0.37230	T	-1.28	0.32185	N	0.63	0.66615	-0.9094	0.46928	T	0.147	0.47165	T	10	0.22601551	0.39446	T	0.020261	0.42817	T	0.221	0.51721	0.205	0.12076	0.043077524339	0.03247	0.3677792166060608	0.36691	1.73204827152	0.90747	0.634203970432	0.57742	T	0.022956	0.17609	T	-0.011813	0.50013	T	-0.254745	0.49348	T	0.86379998922348	0.51401	D	0.918208	0.70605	D	0.16488823	0.36725	0.13418183	0.32159	0.16488823	0.36725	0.13418183	0.32158	-5.806	0.46993	T	.	.	0.18	0.39185	B	.;.;.	.;.;.	4.219175	0.63804	24.6	0.97832746737678811	0.36272	0.96023	0.67184	D	ALL	0.543422	0.55876	D	0.329341403318956	0.57659	3.934199	0.3619452724718	0.59231	4.099169	0.999999999859803	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	4.99	0.65942	7.187000	0.77268	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0701:0.0:0.9299:0.0	14.662	0.68482	838	0.37812	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1296.33	33	chr5	160093184	.	G	C	1296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.333;DP=744;ExcessHet=0;FS=6.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.405;SOR=1.06	GT:AD:DP:GQ:PL	0/1:75,52:127:99:1310,0,2194	18	0	1	0
chr5	168666468	168666468	G	A	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon36:c.C4579T:p.L1527F,SLIT3:NM_003062:exon36:c.C4558T:p.L1520F	.	416	1105	1	0	0	1	0.000452284	.	.	.	2294529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0187034121596	.	.	1.065e-05	0	0	0	0	1.813e-05	0	0	6.5e-06	1	154602	rs779367410	5.62e-06	6.156e-06	2.774e-06	8.54e-06	3.685e-05	2.42e-06	1.75e-06	9.79e-06	4.71e-06	0	0	0	0	0	0	3.671e-06	1.707e-05	3.685e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.219	0.25987	T	0.041	0.21357	B	0.048	0.24975	B	0.214438	0.16287	N	0.639603	1	0.08975	N	-0.345	0.03330	N	-0.95	0.75438	T	-1.02	0.26843	N	0.069	0.05037	-0.9443	0.41927	T	0.161	0.49631	T	10	0.060890943	0.07549	T	0.018703	0.40848	T	0.091	0.26358	0.315	0.29096	0.295975759948	0.29207	0.09535033966118793	0.09467	0.304616228059	0.32772	0.307071268559	0.11464	T	0.096177	0.39771	T	-0.197448	0.21174	T	-0.496217	0.22739	T	0.0604235041864079	0.07235	T	0.711029	0.32195	T	0.060859248	0.12538	0.082194135	0.18740	0.060859248	0.12538	0.082194135	0.18740	-5.038	0.37622	T	.	.	0.088	0.11558	B	.;.;.	.;.;.	1.712891	0.21810	15.36	0.9082012858951316	0.20069	0.16944	0.19619	N	AEFDBI	0.266361	0.38329	N	-0.800007280578038	0.13311	0.6547879	-0.753698465948628	0.15632	0.8230696	0.780396086225879	0.23831	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.42	3.58	0.40133	0.518000	0.22554	4.309000	0.42963	0.676000	0.76740	0.010000	0.18352	1.000000	0.68203	0.042000	0.14466	0.137:0.1517:0.3993:0.3121	1.908	0.03082	966	0.07191	Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, 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	0.001512	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	486.33	37	chr5	168666468	.	G	A	486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.166;DP=632;ExcessHet=0;FS=4.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.79;SOR=0.197	GT:AD:DP:GQ:PL	0/1:20,18:38:99:500,0,607	18	0	1	0
chr5	171213672	171213672	G	A	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon21:c.G2273A:p.R758Q	.	429	1079	12	2	0	16	0.00735971	.	.	.	2369136	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0098204521216	0.0004	.	0.0004	9.61e-05	0.0003	0	0	0.0006	0.0011	0.0005	0.0003687	57	154602	rs149025321	0.0003	0.0003	0.0003	0.0004	0.0066	0.0003	0.0003	0.0049	0.0044	5.976e-05	0.0005	0.0024	0	0	0.0066	0.0002	0.0006	0.0008	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	9.628e-05	0	0	0.0012	0	0	0	0.0003	0.0009	0.0008	0.13	0.26740	T	0.072	0.43344	T	0.0	0.02946	B	0.0	0.01387	B	0.637151	0.10632	N	0.799987	0.990767	0.24128	N	-0.345	0.03330	N	2.02	0.21119	T	0.14	0.05405	N	0.152	0.15609	-0.9541	0.40256	T	0.015	0.05897	T	10	0.02451995	0.00677	T	0.00982	0.25608	T	0.099	0.28413	.	.	0.126345400529	0.12197	0.13364611300296053	0.13288	0.0279603020715	0.02869	0.216464608908	0.01116	T	7.46E-4	0.00347	T	-0.533499	0.00366	T	-0.639948	0.09672	T	0.0174840296417108	0.00484	T	0.883312	0.60567	D	0.03452753	0.03891	0.054152768	0.09262	0.03452753	0.03891	0.054152768	0.09261	-2.928	0.09426	T	.	.	0.072	0.04119	B	.	.	1.573953	0.20145	14.61	0.96033299091175039	0.28512	0.57085	0.30284	D	AEFI	0.054403	0.09890	N	-1.14368436205557	0.05884	0.2694427	-1.08440829511652	0.08007	0.3918414	0.00229460366478043	0.09302	0.706298	0.61202	0	0.624306	0.53593	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.97	-5.26	0.02559	0.545000	0.22976	0.990000	0.23186	0.676000	0.76740	0.998000	0.41325	0.662000	0.26021	0.314000	0.24830	0.5104:0.0:0.1902:0.2994	6.269	0.20155	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	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.009146	0.000000	0.02632	1000.33	34	chr5	171213672	.	G	A	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.609;DP=701;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.272;SOR=0.54	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1014,0,1060	18	0	1	0
chr5	179345261	179345261	A	0	exonic	ADAMTS2	.	.	.	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	52	1338	108	2	22	134	0.0401722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	140.54	17	chr5	179345261	.	A	*	140.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.77;DP=399;ExcessHet=0.3672;FS=2.644;InbreedingCoeff=-0.087;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.452;SOR=0.648	GT:AD:DP:GQ:PL	0/1:14,3:17:84:84,0,547	17	0	2	0
chr5	179651628	179651628	C	T	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.C397T:p.R133C,C5orf60:NM_001305388:exon4:c.C397T:p.R133C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.000399361	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs529065363	7.812e-05	7.46e-05	8.306e-05	7.306e-05	0.0012	6.586e-05	6.14e-05	0.0005	0.0003	6.497e-05	0	0	0	0.0012	0.0012	2.583e-05	0.0001	0.0001	0.0001	0.0001	5.142e-05	0.0002	0.0002	6.511e-05	5.323e-05	3.245e-05	1.912e-05	9.632e-05	0	0	0	0	0.0008	0	1.471e-05	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	190.33	21	chr5	179651628	.	C	T	190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=467;ExcessHet=0;FS=2.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.86;MQRankSum=1.61;QD=5.6;ReadPosRankSum=-0.183;SOR=1.574	GT:AD:DP:GQ:PL	0/1:26,8:34:99:204,0,737	18	0	1	0
chr5	179679101	179679101	G	A	exonic	CBY3	.	nonsynonymous SNV	CBY3:NM_001164444:exon2:c.C211T:p.R71C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0311613547257	.	.	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs187808595	0.0001	0.0001	0.0002	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0.0002	0.0003	0	0	0	0.0016	0.0001	0.0003	1.263e-05	7.224e-05	7.223e-05	0.0001	4.033e-05	0.0002	3.969e-05	3.126e-05	5.284e-05	2.834e-05	4.823e-05	0	0.0002	0	0	0	0	7.348e-05	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	-1.91	0.44471	N	0.357	0.39861	-0.9972	0.30701	T	0.058	0.24465	T	6	0.13916847	0.26463	T	0.031161	0.53307	D	0.061	0.17616	.	.	0.136095386433	0.13204	0.2728368713829173	0.27196	.	.	0.427026212215	0.28802	T	0.005857	0.05306	T	-0.167324	0.25641	T	-0.183291	0.56217	T	0.250089973211288	0.22877	T	.	.	.	0.13403359	0.31155	0.15656205	0.36649	0.13403359	0.31154	0.15656205	0.36648	-4.355	0.28941	T	.	.	0.131	0.28319	B	.	.	2.230025	0.28468	17.81	0.99749269435412413	0.84152	0.06821	0.12845	N	AEFDBHCIJ	0.057941	0.10832	N	-0.676128887495452	0.16704	0.8533286	-0.733633092019609	0.16126	0.8515571	0.999999999772013	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.64	0.345	0.15249	0.018000	0.13315	0.318000	0.17154	-1.166000	0.01406	0.001000	0.13787	0.967000	0.29559	0.029000	0.12982	0.0:0.2928:0.4396:0.2676	7.855	0.28640	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006112	0.005556	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1579.33	40	chr5	179679101	.	G	A	1579.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=771;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.964;SOR=0.835	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1593,0,1479	18	0	1	0
chr5	179774225	179774225	A	C	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.A2399C:p.N800T	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00954882993131	0.0024	0.00179712	0.0039	0.0006	0.0011	0	0.0089	0.0059	0.0034	0.0002	0.003771	583	154602	rs148053500	0.0033	0.0033	0.0034	0.0033	0.0189	0.0033	0.0032	0.0160	0.0149	0.0007	0.0010	0.0007	0	0.0096	0.0189	0.0035	0.0037	0.0004	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0030	0.0007	0	0.0019	0.0006	0	0.0082	0.0102	0.0036	0.0047	0	0.016	0.51853	D	0.083	0.41405	T	0.997	0.70673	D	0.851	0.60700	P	0.000351	0.45440	D	0.192835	0.999241	0.46434	D	2.56	0.74772	M	1.78	0.25678	T	-2.18	0.49187	N	0.441	0.47949	-1.0699	0.09436	T	0.064	0.26385	T	10	0.00633952	0.00143	T	0.009549	0.24993	T	0.089	0.25827	.	.	0.410118878471	0.40628	0.30126345385311204	0.30039	0.235098826708	0.26036	0.500824689865	0.38943	T	0.453294	0.79329	T	-0.471734	0.00829	T	-0.446664	0.28067	T	0.0375471707245701	0.03251	T	.	.	.	0.072530955	0.16142	0.08631832	0.19989	0.072530955	0.16141	0.08631832	0.19988	-3.538	0.16968	T	.	.	0.106	0.19598	B	.	.	3.185760	0.43259	21.7	0.99566440947170098	0.72136	0.95499	0.64964	D	AEFDBI	0.272015	0.38775	N	0.153565667690466	0.48981	3.103735	0.103583713508954	0.44732	2.749256	0.999944281848669	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	1.31	0.20837	2.109000	0.41487	2.577000	0.33395	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.6881:0.0:0.3119:0.0	8.387	0.31666	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015625	0.010101	0.016349	0.032164	0.000000	0.017241	0.009146	0.007576	0.02632	1727.33	33	chr5	179774225	.	A	C	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=792;ExcessHet=0;FS=4.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.634;SOR=0.765	GT:AD:DP:GQ:PL	0/1:85,66:151:99:1741,0,2273	18	0	1	0
chr5	179853392	179853392	G	A	exonic	MRNIP	.	stopgain	MRNIP:NM_001017987:exon2:c.C112T:p.Q38X,MRNIP:NM_016175:exon2:c.C112T:p.Q38X	.	437	1067	16	2	0	20	0.00928505	.	.	.	2825632	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.205	.	0.0034	0.00339457	0.0026	0.0057	0.0020	0.0002	0.0003	0.0033	0.0022	0.0003	0.0027167	420	154602	rs112867427	0.0030	0.0030	0.0030	0.0030	0.0106	0.0029	0.0029	0.0085	0.0077	0.0055	0.0027	0.0048	0.0002	0.0005	0.0106	0.0032	0.0033	0.0006	0.0040	0.0040	0.0038	0.0042	0.0058	0.0037	0.0036	0.0050	0.0048	0.0056	0	0.0058	0.0052	0	0.0008	0.0136	0.0033	0.0090	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000015	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.206	0.23758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190297	0.72990	D	0.503462	0.94693	D	0.0714765072717897	0.08856	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Tolerant;.	.;.;.;.;High;.	10.086868	0.99559	45	0.99787027092574287	0.87308	0.81009	0.40506	D	AEFDBCI	0.699072	0.65654	D	0.982233530796849	0.95172	13.374	0.798350469101079	0.89677	10.07522	0.999999999946364	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.03	4.03	0.46115	4.194000	0.58190	10.653000	0.83529	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	13.980	0.63815	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.013595	0.040404	0.017663	0.002924	0.050000	0.008621	0.006098	0.000000	0.05263	2299.83	39	chr5	179853392	.	G	A	2299.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.523;DP=839;ExcessHet=0.119;FS=0.557;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.657;SOR=0.756	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1120,0,1045	17	0	2	0
chr6	1313006	1313006	G	A	exonic	FOXQ1	.	nonsynonymous SNV	FOXQ1:NM_033260:exon1:c.G302A:p.G101D	.	314	1191	17	0	0	17	0.00708629	.	.	.	2825663	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	.	0.0039	0.00119808	0.0205	0.0095	0.0072	0.0008	0.0083	0.0285	0.0116	0.0163	0.0035963	556	154602	rs199626291	0.0088	0.0080	0.0089	0.0086	0.0099	0.0086	0.0086	0.0097	0.0097	0.0014	0.0023	0.0103	0.0001	0.0030	0.0022	0.0099	0.0066	0.0042	0.0051	0.0051	0.0056	0.0045	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0014	0.0095	0	0.0033	0	0.0087	0.0043	0.0043	0.181	0.21884	T	0.199	0.27679	T	0.561	0.38362	P	0.166	0.35067	B	0.939196	0.08366	N	0.949192	0.99999	0.08975	N	0.695	0.17993	N	0.37	0.57729	T	-0.39	0.13611	N	0.194	0.21319	-1.0414	0.16890	T	0.042	0.17952	T	10	0.004980266	0.00107	T	.	.	.	0.055	0.15663	.	.	0.300784259202	0.29686	0.26413867288485793	0.26326	.	.	0.856463909149	0.90585	D	0.08505	0.37416	T	-0.490179	0.00648	T	-0.47232	0.25267	T	0.00629917079943835	0.00070	T	0.279272	0.04852	T	0.041404124	0.06089	0.10650694	0.25625	0.041404124	0.06089	0.10650694	0.25624	-7.799	0.59692	D	.	.	0.128	0.27373	B	.	.	2.417411	0.31083	18.63	0.99637282409545935	0.76449	0.19537	0.20699	N	AEFBCI	0.044780	0.07248	N	-0.801798800985491	0.13264	0.6522096	-0.873670911872064	0.12720	0.655933	0.999999922865585	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.38	2.5	0.29355	2.253000	0.42859	2.496000	0.33006	-0.439000	0.05178	0.021000	0.19753	0.973000	0.29867	0.018000	0.11154	0.1253:0.0:0.8747:0.0	8.375	0.31598	966	0.07191	.	.	.	.	.	.	Likely benign	0	0	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	0.003568	0.000000	0.005450	0.005917	0.000000	0.000000	0.000000	0.003817	0.05263	2893.83	43	chr6	1313006	.	G	A	2893.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.05;DP=874;ExcessHet=0.119;FS=2.789;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.687;SOR=1.003	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1265,0,1285	17	0	2	0
chr6	16327634	16327642	TGCTGCTGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.669_677del:p.Q223_Q225del,ATXN1:NM_000332:exon8:c.669_677del:p.Q223_Q225del	Spinocerebellar ataxia 1, Autosomal dominant	7	754	43	2	716	763	0.0302251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487970262	0.0012	0.0018	0.0012	0.0012	0.0219	0.0011	0.0011	0.0206	0.0201	0.0003	0.0002	0.0002	0.0219	0.0001	0.0012	0.0006	0.0009	0.0020	0.0011	0.0012	0.0012	0.0011	0.0141	0.0010	0.0009	0.0113	0.0103	0.0005	0	0.0003	0.0006	0.0141	0	0	0.0009	0.0005	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13389.7	35	chr6	16327633	.	GTGCTGCTGC	G	13389.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.14;DP=1723;ExcessHet=0.0038;FS=0;InbreedingCoeff=0.5476;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.61;ReadPosRankSum=0.385;SOR=0.682	GT:AD:DP:GQ:PL	0/1:41,39:82:99:1450,0,1543	18	0	1	0
chr6	16327642	16327642	C	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	862.15	41	chr6	16327642	.	C	*	862.15	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.64;DP=1503;ExcessHet=0.119;FS=0.572;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=59.77;MQRankSum=-2.786;QD=5.79;ReadPosRankSum=-0.241;SOR=0.624	GT:AD:DP:GQ:PL	0/1:41,39:82:99:1450,0,1543	17	0	1	1
chr6	16327684	16327687	ATGC	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	13328.5	41	chr6	16327684	.	ATGC	*	13328.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=1396;ExcessHet=6.1876;FS=1.778;InbreedingCoeff=-0.2955;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=20.63;ReadPosRankSum=0.467;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,50:96:99:.:.:1823,0,1733:.	18	0	1	0
chr6	17637748	17637748	A	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon15:c.T1743G:p.D581E,NUP153:NM_005124:exon16:c.T1869G:p.D623E,NUP153:NM_001278209:exon17:c.T1962G:p.D654E	.	430	1081	11	0	0	11	0.00506213	.	.	.	699467	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0065042790654	0.0045	0.00299521	0.0048	0.0011	0.0014	0	0.0047	0.0064	0.0045	0.0060	0.0048576	751	154602	rs61748574	0.0058	0.0057	0.0058	0.0058	0.0176	0.0057	0.0056	0.0148	0.0137	0.0009	0.0017	0.0008	0	0.0039	0.0176	0.0064	0.0056	0.0055	0.0040	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0010	0	0.0034	0.0014	0	0.0032	0.0340	0.0065	0.0028	0.0039	0.399	0.10517	T	0.551	0.09393	T	0.102	0.25827	B	0.048	0.24975	B	0.059073	0.22352	N	0.379952	1	0.08975	N	2.4	0.69460	M	1.59	0.28836	T	-0.5	0.15782	N	0.064	0.03613	-0.9679	0.37632	T	0.017	0.06950	T	10	0.008774191	0.00199	T	0.006504	0.17129	T	0.051	0.14325	0.549	0.66436	0.583783962782	0.58051	0.15777850133853077	0.15698	0.0448611855857	0.04851	0.320056021214	0.13429	T	0.009123	0.08323	T	-0.579136	0.00195	T	-0.599819	0.12826	T	0.00686507471851824	0.00078	T	0.859414	0.55137	D	0.016476626	0.00200	0.022436127	0.00268	0.016476626	0.00200	0.022436127	0.00268	-3.121	0.11539	T	.	.	0.121	0.31658	B	.;.;.	.;.;.	1.238146	0.16335	12.47	0.74435273872029661	0.10694	0.80698	0.40269	D	AEFBI	0.124234	0.24020	N	-0.816928905228238	0.12878	0.6306189	-0.783641183062532	0.14896	0.7807172	0.0878242586402551	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	0.7	0.17258	1.228000	0.32190	1.101000	0.24069	-0.050000	0.17177	0.943000	0.32764	0.991000	0.31484	0.432000	0.27494	0.4051:0.1801:0.4148:0.0	4.687	0.12144	482	0.77288	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008073	0.005051	0.004076	0.017751	0.000000	0.000000	0.003049	0.011364	0.05263	4789.83	33	chr6	17637748	.	A	C	4789.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.224;DP=951;ExcessHet=0.119;FS=2.289;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.832;SOR=0.573	GT:AD:DP:GQ:PL	0/1:86,97:183:99:2535,0,2460	17	0	2	0
chr6	25761998	25761998	-	T	exonic	SLC17A4	.	stopgain	SLC17A4:NM_005495:exon2:c.36_37insT:p.D13*	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0005	9.638e-05	0.0013	0	0.0002	0.0006	0.0022	6.113e-05	0.0004463	69	154602	rs754805517	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.000000	0.004076	0.005848	0.000000	0.017241	0.000000	0.003788	0.02632	1288.29	34	chr6	25761998	.	G	GT	1288.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.214;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.822;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,36:99:99:0|1:25761998_G_GT:1302,0,2537:25761998	18	0	1	0
chr6	25761999	25761999	G	T	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.G37T:p.D13Y	.	433	1080	9	0	0	9	0.00414938	.	.	.	2340078	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0156294671014	.	.	0.0005	9.641e-05	0.0013	0	0.0002	0.0006	0.0022	6.116e-05	0.0004075	63	154602	rs143424660	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.406e-05	0	0.0016	0.0040	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.008	0.58626	D	0.016	0.60972	D	0.958	0.54977	D	0.438	0.45631	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.31	0.68030	T	-2.9	0.60827	D	0.206	0.22870	-0.8428	0.52460	T	0.176	0.52037	T	10	0.01386109	0.00293	T	0.015629	0.36469	T	0.229	0.52916	.	.	0.37568098594	0.37176	0.42803958335129305	0.42720	0.135075783952	0.15223	0.268635213375	0.05964	T	0.149937	0.48918	T	-0.428246	0.01519	T	-0.469706	0.25548	T	0.0681280327577997	0.08387	T	0.493751	0.15260	T	0.09663421	0.22764	0.11942261	0.28824	0.09663421	0.22764	0.11942261	0.28824	-6.022	0.46464	T	.	.	0.082	0.08899	B	.	.	1.895600	0.24075	16.26	0.82494463703240095	0.14222	0.04367	0.09940	N	AEFBI	0.091053	0.18447	N	-0.635765753794114	0.17878	0.9236793	-0.804943136868292	0.14376	0.7508268	6.23045122054681E-4	0.07482	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-0.913	0.09966	0.480000	0.21954	1.514000	0.27045	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.017000	0.10941	0.1887:0.4711:0.3402:0.0	5.993	0.18706	606	0.67383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.004076	0.005848	0.000000	0.017241	0.003049	0.003788	0.02632	1331.33	34	chr6	25761999	.	G	T	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.493;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,38:101:99:0|1:25761998_G_GT:1345,0,2531:25761998	18	0	1	0
chr6	25762001	25762001	C	A	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon2:c.C39A:p.D13E	.	432	1081	9	0	0	9	0.00414556	.	.	.	2340079	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0047206888041	.	.	0.0005	9.639e-05	0.0013	0	0.0002	0.0006	0.0022	6.118e-05	0.0004075	63	154602	rs150942022	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0028	0	5.617e-05	0.0023	0.0005	0.0008	0.0002	0.0006	0.0006	0.0006	0.0005	0.0016	0.0005	0.0004	0.0011	0.0010	2.407e-05	0	0.0016	0.0041	0.0002	0	0.0034	0.0006	0.0019	0.0002	0.703	0.04134	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.001490	0.00791	N	3.473650	1	0.08975	N	0.345	0.11182	N	-0.16	0.65378	T	-0.13	0.08971	N	0.108	0.09349	-1.0368	0.18295	T	0.042	0.18118	T	10	0.006346971	0.00143	T	0.004721	0.11753	T	0.041	0.10877	0.305	0.27485	0.137902524267	0.13322	0.05126253807932022	0.05068	0.0685600842673	0.07678	0.259500771761	0.04832	T	0.015135	0.12752	T	-0.602972	0.00140	T	-0.720688	0.04762	T	0.00904730794126588	0.00113	T	0.29617	0.05481	T	0.026142983	0.01635	0.022645758	0.00285	0.026142983	0.01635	0.022645758	0.00285	-3.348	0.14364	T	.	.	0.098	0.16275	B	.	.	-1.117574	0.00620	0.016	0.28101542504643928	0.01427	0.00787	0.03223	N	AEFBI	0.061203	0.11685	N	-2.06775497969595	0.00151	0.006451039	-2.13961945000669	0.00153	0.006711604	0.986420855573553	0.31061	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.23	-8.46	0.00822	-1.308000	0.02839	-3.557000	0.02697	-1.555000	0.00957	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1351:0.5029:0.1022:0.2597	4.559	0.11548	606	0.67383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.004076	0.005848	0.000000	0.017241	0.000000	0.003788	0.02632	1309.33	34	chr6	25762001	.	C	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=724;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.948;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,37:100:99:0|1:25761998_G_GT:1323,0,2534:25761998	18	0	1	0
chr6	26108071	26108071	G	A	exonic	H1-6	.	nonsynonymous SNV	H1-6:NM_005323:exon1:c.C23T:p.A8V	.	429	1087	6	0	0	6	0.00275229	.	.	.	3273252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.00307608869733	0.0002	.	0.0002	0	0.0003	0.0001	0	0.0002	0	0.0004	0.000194	30	154602	rs375287545	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	0.0001	0.0022	0.0018	0.0001	0.0004	0	0	1.872e-05	0.0033	8.903e-05	0.0004	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	8.161e-05	6.718e-05	0.0002	0.0001	4.813e-05	0	0.0004	0	0.0002	0	0	0.0001	0	0.0004	0.101	0.30375	T	0.095	0.39492	T	0.051	0.22415	B	0.01	0.14941	B	0.122586	0.18950	N	0.371629	1	0.08975	N	0	0.06538	N	2.86	0.10482	T	-1.94	0.45042	N	0.136	0.13341	-0.9393	0.42727	T	0.004	0.01125	T	10	0.026951075	0.00851	T	0.003076	0.06636	T	0.092	0.26621	.	.	0.0482279557977	0.04254	0.5516159165946831	0.55087	.	.	0.275006175041	0.06806	T	0.176248	0.52612	T	-0.481025	0.00729	T	-0.618217	0.11324	T	0.0233574884094234	0.01065	T	0.340666	0.07366	T	0.04103882	0.05971	0.038455956	0.03719	0.04103882	0.05971	0.038455956	0.03719	-4.17	0.26316	T	.	.	0.092	0.13690	B	.	.	0.238820	0.06193	2.642	0.98150615864813973	0.38688	0.29246	0.23771	N	AEFBHI	0.137749	0.25883	N	-1.05405934216212	0.07508	0.3490085	-1.07420564124523	0.08211	0.4026964	0.376307866395745	0.19918	0.487112	0.14033	0	0.573888	0.26702	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.35	-1.94	0.07158	2.043000	0.40854	0.142000	0.15184	0.676000	0.76740	0.053000	0.21524	0.000000	0.08366	0.001000	0.02609	0.3403:0.1143:0.4281:0.1174	2.232	0.03753	498	0.76166	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.008772	0.000000	0.000000	0.003049	0.000000	0.05263	2673.83	41	chr6	26108071	.	G	A	2673.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.424;DP=886;ExcessHet=0.119;FS=7.323;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.269;SOR=1.271	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1303,0,1114	17	0	2	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L,BTN2A1:NM_007049:exon8:c.G1237C:p.V413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	562.16	40	chr6	26468202	.	G	C	562.16	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-4.473;DP=2850;ExcessHet=0.119;FS=174.636;InbreedingCoeff=-0.1351;MLEAC=2;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=2.08;SOR=9.883	GT:AD:DP:GQ:PL	0/1:159,31:201:56:56,0,3710	12	0	2	5
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	164.05	60	chr6	27310582	.	G	A	164.05	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-3.088;DP=1407;ExcessHet=0.3672;FS=321.847;InbreedingCoeff=-0.157;MLEAC=4;MLEAF=0.133;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=-0.608;SOR=9.065	GT:AD:DP:GQ:PL	0/1:72,34:106:55:55,0,1235	12	0	3	4
chr6	28272748	28272748	C	T	exonic	ZSCAN26	.	nonsynonymous SNV	ZSCAN26:NM_001023560:exon3:c.C499T:p.R167W,ZSCAN26:NM_001111039:exon3:c.C496T:p.R166W,ZSCAN26:NM_001287421:exon3:c.C94T:p.R32W,ZSCAN26:NM_152736:exon3:c.C94T:p.R32W	.	423	1062	35	2	0	39	0.0180305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00439297	0.0063	0.0001	0.0005	0.0010	0.0002	0.0022	0.0063	0.0377	0.005097	788	154602	rs187327081	0.0037	0.0037	0.0029	0.0046	0.0317	0.0036	0.0036	0.0307	0.0303	0.0002	0.0008	0.0031	0.0003	0.0007	0.0083	0.0021	0.0031	0.0317	0.0021	0.0021	0.0016	0.0026	0.0263	0.0019	0.0018	0.0226	0.0212	0.0003	0	0.0010	0.0023	0.0008	0.0004	0	0.0020	0.0024	0.0263	.	.	.	0.012	0.69154	D	0.733	0.42736	P	0.12	0.32230	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24385	.	.	.	.	.	.	.	0.0033355355	0.00058	T	.	.	.	.	.	.	.	0.176091768786	0.17195	0.1230217323724493	0.12228	.	.	0.178530722857	0.00081	T	0.031673	0.22488	T	-0.357918	0.04248	T	-0.263216	0.48501	T	.	.	.	0.663034	0.31953	T	0.1252649	0.29369	0.122121446	0.29459	0.1252649	0.29369	0.122121446	0.29459	-4.383	0.29326	T	.	.	0.090	0.34449	B	.;.;.;.;.;.	.;.;.;.;.;.	2.663748	0.34712	19.70	0.78118967839709064	0.12163	0.31810	0.24431	N	AEFBI	.	.	.	.	.	.	.	.	.	0.382626342035467	0.19974	0.322412	0.05557	0	0.156173	0.03658	0	0.331037	0.05861	0	0.221052	0.04502	0	0.0967074	0.21669	4.04	3.17	0.35510	3.580000	0.53652	0.371000	0.17677	-0.202000	0.08738	0.018000	0.19461	0.000000	0.08366	0.477000	0.28498	0.0:0.8847:0.0:0.1153	7.767	0.28149	509	0.75304	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.004076	0.000000	0.000000	0.008621	0.003067	0.007576	0.07895	1438.79	33	chr6	28272748	.	C	T	1438.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.245;DP=739;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.14;SOR=0.716	GT:AD:DP:GQ:PL	0/1:31,19:50:99:485,0,818	16	0	3	0
chr6	28329502	28329502	C	T	exonic	ZSCAN31	.	nonsynonymous SNV	ZSCAN31:NM_001135216:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001243241:exon2:c.G182A:p.R61Q,ZSCAN31:NM_030899:exon2:c.G182A:p.R61Q,ZSCAN31:NM_001135215:exon6:c.G182A:p.R61Q,ZSCAN31:NM_145909:exon6:c.G182A:p.R61Q	.	427	1062	31	2	0	35	0.0162112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0025	0.00419329	0.0057	0.0002	0.0011	0.0012	0.0015	0.0030	0.0066	0.0274	0.0051616	798	154602	rs148156232	0.0043	0.0043	0.0035	0.0050	0.0273	0.0042	0.0042	0.0264	0.0260	0.0004	0.0017	0.0031	0.0004	0.0017	0.0087	0.0030	0.0034	0.0273	0.0028	0.0028	0.0025	0.0031	0.0220	0.0026	0.0025	0.0186	0.0174	0.0006	0	0.0014	0.0023	0.0010	0.0012	0.0034	0.0035	0.0033	0.0220	0.521	0.20988	T	0.194	0.28120	T	0.05	0.22331	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.455	0.36767	L	3.51	0.04959	T	-1.73	0.60188	N	0.141	0.15328	-0.9214	0.45362	T	0.005	0.01725	T	9	0.005136043	0.00111	T	.	.	.	0.066	0.19193	.	.	0.0297737177859	0.01360	0.1074141927531143	0.10670	0.521147091014	0.49897	0.332464814186	0.15307	T	0.001524	0.18905	T	-0.601051	0.00144	T	-0.615873	0.11513	T	0.0278578650942649	0.01668	T	0.372463	0.12997	T	0.03518133	0.04092	0.046788376	0.06597	0.03518133	0.04092	0.046788376	0.06597	-5.33	0.40239	T	.	.	0.142	0.33435	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.916082	0.12909	9.417	0.99814016910868308	0.89797	0.03359	0.08450	N	AEFBHCI	0.098848	0.19910	N	-0.859570190243696	0.11815	0.5722949	-0.925333904878234	0.11497	0.5860615	8.10275566706425E-4	0.07842	0.706298	0.61202	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.62	-1.16	0.09181	-0.221000	0.09208	-2.684000	0.03470	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.716000	0.34643	0.1307:0.2942:0.2577:0.3174	1.156	0.01685	576	0.70006	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.07895	4780.79	33	chr6	28329502	.	C	T	4780.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.2;DP=999;ExcessHet=0.3672;FS=0.523;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.557;SOR=0.633	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1583,0,1469	16	0	3	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.124220	0.116162	0.138587	0.075000	0.250000	0.077586	0.158537	0.140152	0.07895	1369.79	130	chr6	29942795	.	C	T	1369.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.338;DP=2200;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.14;MQRankSum=-3.245;QD=3.32;ReadPosRankSum=3.5;SOR=0.618	GT:AD:DP:GQ:PL	0/1:115,16:131:36:36,0,3002	16	0	3	0
chr6	30647826	30647826	A	G	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.A595G:p.R199G	.	421	1021	74	6	0	86	0.0404135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.0171725	0.0293	0.0054	0.0290	0.0278	0	0.0178	0.0541	0.0388	0.003357	519	154602	rs117903822	0.0077	0.0074	0.0070	0.0084	0.0797	0.0076	0.0075	0.0772	0.0762	0.0052	0.0085	0.0167	0.0797	0.0052	0.0338	0.0038	0.0101	0.0258	0.0078	0.0078	0.0069	0.0088	0.0437	0.0075	0.0073	0.0390	0.0372	0.0039	0.0088	0.0118	0.0176	0.0437	0.0058	0.0374	0.0052	0.0123	0.0207	1.0	0.00964	T	0.332	0.18732	T	.	.	.	.	.	.	.	.	.	.	1	0.22124	N	.	.	.	.	.	.	-0.65	0.18877	N	0.01	0.00095	-0.9772	0.35638	T	0.014	0.05657	T	8	0.0018902421	0.00026	T	.	.	.	0.075	0.21907	.	.	.	.	0.06098385558283108	0.06038	1.24459615627	0.81633	.	.	.	0.01798	0.14575	T	-0.709725	0.00032	T	-0.729716	0.04340	T	0.00730309167067027	0.00084	T	0.329067	0.06866	T	.	.	.	.	.	.	.	.	-3.444	0.15656	T	.	.	0.046	0.00059	B	.;.	.;.	1.312319	0.17156	12.99	0.62416210181127441	0.06957	0.00276	0.01495	N	ALL	0.031049	0.03242	N	-1.38486048576254	0.02779	0.123214	-1.38930339050936	0.03365	0.1568165	0.999999999949627	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.38	-1.41	0.08473	0.813000	0.26883	.	.	-0.121000	0.13915	0.014000	0.18986	0.926000	0.28431	0.943000	0.48514	0.4582:0.0:0.3434:0.1985	3.037	0.05757	851	0.35303	.;.	.	.	.	.	rs117903822	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018692	0.005882	0.021739	0.035714	0.083333	0.093750	0.025316	0.000000	0.05263	817.83	33	chr6	30647826	.	A	G	817.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.587;DP=711;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.046;SOR=0.753	GT:AD:DP:GQ:PL	0/1:22,15:37:99:329,0,568	17	0	2	0
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L,PPP1R18:NM_001134870:exon2:c.G655C:p.V219L	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0023	0.0061901	0.0061	0.0007	0.0036	0.0014	0.0020	0.0045	0.0069	0.0212	0.0054204	838	154602	rs143519393	0.0042	0.0042	0.0034	0.0049	0.0217	0.0041	0.0041	0.0209	0.0205	0.0005	0.0040	0.0052	0.0004	0.0018	0.0153	0.0031	0.0052	0.0217	0.0038	0.0038	0.0033	0.0042	0.0180	0.0035	0.0034	0.0150	0.0139	0.0006	0	0.0079	0.0046	0.0015	0.0025	0.0272	0.0040	0.0052	0.0180	0.082	0.33254	T	0.255	0.23365	T	0.008	0.14655	B	0.002	0.06944	B	0.700478	0.10098	N	0.818239	1	0.08975	N	2.32	0.66415	M	1.88	0.23884	T	-0.35	0.12847	N	0.132	0.12770	-0.9456	0.41715	T	0.014	0.05705	T	10	0.001848489	0.00025	T	.	.	.	0.021	0.04004	0.264	0.20946	0.0611884634855	0.05136	0.027450092187436007	0.02695	0.448885401441	0.44700	0.363796293736	0.19938	T	0.002987	0.02381	T	-0.614717	0.00119	T	-0.638855	0.09753	T	0.00821828713281253	0.00098	T	.	.	.	0.030433146	0.02707	0.08462599	0.19481	0.030433146	0.02706	0.08462599	0.19481	-3.728	0.19732	T	.	.	0.126	0.26886	B	.;.;.	.;.;.	1.542826	0.19785	14.43	0.89823851812728572	0.19134	0.09276	0.15065	N	AEFDGBHCI	0.099578	0.20041	N	-1.0622982690646	0.07348	0.3410551	-0.975248394405998	0.10343	0.5203191	0.999999959912266	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.26897	0.05253	2	0.657601	0.63696	0	.	.	5.66	1.39	0.21325	0.790000	0.26562	.	.	-0.773000	0.03420	0.429000	0.26401	0.000000	0.08366	0.955000	0.50612	0.0:0.6904:0.0:0.3096	11.106	0.47423	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	0.014161	0.010101	0.006793	0.015957	0.000000	0.052632	0.027439	0.015152	0.05263	4428.83	37	chr6	30685364	.	C	G	4428.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.22;DP=979;ExcessHet=0.119;FS=1.338;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.794;SOR=0.779	GT:AD:DP:GQ:PL	0/1:82,83:165:99:2292,0,2168	17	0	2	0
chr6	30703983	30703983	C	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.G5200A:p.A1734T	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0044	0.0165735	0.0110	0.0030	0.0063	0.0409	0.0048	0.0063	0.0132	0.0247	0.0104074	1609	154602	rs75355880	0.0079	0.0079	0.0072	0.0086	0.0759	0.0078	0.0077	0.0737	0.0728	0.0035	0.0078	0.0167	0.0759	0.0053	0.0338	0.0039	0.0100	0.0256	0.0075	0.0075	0.0067	0.0084	0.0438	0.0071	0.0070	0.0391	0.0373	0.0029	0.0088	0.0112	0.0176	0.0438	0.0058	0.0374	0.0053	0.0123	0.0199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.672941	0.10325	N	0.808128	1	0.08975	N	-1.78	0.00307	N	3.55	0.04746	T	0.94	0.01529	N	0.013	0.00142	-0.9339	0.43560	T	0.001	0.00348	T	10	0.0020232499	0.00028	T	.	.	.	0.018	0.03083	.	.	.	.	0.06377326123958094	0.06316	0.189930224763	0.21315	0.234251990914	0.02297	T	0.016035	0.13332	T	-0.791146	0.00009	T	-0.844117	0.01039	T	0.0050463368276341	0.00054	T	.	.	.	0.014551189	0.00098	0.03780534	0.03512	0.014551189	0.00098	0.03780534	0.03512	-3.401	0.15070	T	.	.	0.074	0.05188	B	.	.	-0.522186	0.01798	0.139	0.65426518840499925	0.07769	0.00870	0.03447	N	AEFDGBCI	0.012979	0.00158	N	-1.56879976541179	0.01427	0.06226877	-1.55244441102163	0.01959	0.08944971	0.999923987511578	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-4.12	0.03650	-0.676000	0.05321	.	.	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.289:0.2635:0.1486:0.299	0.290	0.00239	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.028867	0.010101	0.035326	0.031915	0.150000	0.068966	0.030488	0.018939	0.05263	4592.83	39	chr6	30703983	.	C	T	4592.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.21;DP=1435;ExcessHet=0.119;FS=1.198;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.278;SOR=0.758	GT:AD:DP:GQ:PL	0/1:98,84:182:99:2133,0,2607	17	0	2	0
chr6	30704192	30704192	G	C	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C4991G:p.T1664S	.	422	1019	74	7	0	88	0.0413923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0043	0.0167732	0.0112	0.0030	0.0063	0.0421	0.0048	0.0063	0.0166	0.0258	0.0105885	1637	154602	rs80087328	0.0080	0.0080	0.0073	0.0087	0.0768	0.0079	0.0079	0.0745	0.0736	0.0034	0.0078	0.0167	0.0768	0.0053	0.0337	0.0039	0.0121	0.0263	0.0076	0.0077	0.0068	0.0085	0.0442	0.0073	0.0071	0.0395	0.0377	0.0029	0.0088	0.0114	0.0176	0.0442	0.0058	0.0374	0.0053	0.0180	0.0205	0.347	0.12428	T	0.529	0.10138	T	0.021	0.18474	B	0.018	0.18489	B	0.675874	0.10301	N	0.785142	1	0.08975	N	0.785	0.19527	N	2.67	0.12473	T	-0.85	0.23156	N	0.023	0.00407	-0.9176	0.45877	T	0.005	0.01833	T	10	0.0025712848	0.00039	T	.	.	.	0.006	0.00375	0.132	0.03662	.	.	0.052971124096217334	0.05239	0.176861744951	0.19898	0.229384556413	0.01923	T	0.022529	0.17353	T	-0.755738	0.00016	T	-0.796654	0.01987	T	0.00466072554484341	0.00050	T	.	.	.	0.021209378	0.00712	0.022170952	0.00247	0.021209378	0.00712	0.022170952	0.00247	-5.545	0.42287	T	.	.	0.094	0.14293	B	.	.	-0.958933	0.00831	0.028	0.77038592157196695	0.11711	0.12720	0.17439	N	AEFBCI	0.041463	0.06306	N	-1.47856639275995	0.02002	0.08794544	-1.55226613946532	0.01960	0.08950758	0.999416663980499	0.39577	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	-4.79	0.02966	-1.465000	0.02463	.	.	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0832:0.239:0.1956:0.4822	3.408	0.06922	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027778	0.015152	0.035326	0.031915	0.100000	0.051724	0.027439	0.018939	0.05263	5334.83	39	chr6	30704192	.	G	C	5334.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=1493;ExcessHet=0.119;FS=1.757;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.31;SOR=0.848	GT:AD:DP:GQ:PL	0/1:126,97:223:99:2645,0,3586	17	0	2	0
chr6	31029723	31029723	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4292_4293insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST,MUC22:NM_001318484:exon3:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1463_S1464insAGSETTTASTAGSETTTAST,MUC22:NM_001322469:exon4:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.S1474_G1777delinsAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0039	0.0019	0.0019	0.0048	0.0018	0.0018	0.0035	0.0033	0.0009	0.0031	0.0051	0.0041	0.0091	0.0048	0.0016	0.0028	0.0011	0.0002	0.0025	0.0002	0.0001	0.0009	0.0001	8.245e-05	0.0002	6.649e-05	0	0	0.0001	0.0006	0.0003	0.0005	0	0.0002	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	11439.2	539	chr6	31029723	.	A	AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	11439.2	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.076;DP=12410;ExcessHet=0.119;FS=0.551;InbreedingCoeff=-0.1014;MLEAC=2;MLEAF=0.063;MQ=59.33;MQRankSum=-3.73;QD=14.33;ReadPosRankSum=-5.701;SOR=0.661	GT:AD:DP:GQ:PL	0/1:435,100:538:99:5558,0,7183	14	0	2	3
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	13885.3	539	chr6	31029812	.	T	*	13885.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.639;DP=12766;ExcessHet=3.116;FS=0;InbreedingCoeff=-0.1611;MLEAC=3;MLEAF=0.083;MQ=59.61;MQRankSum=-5.406;QD=2.42;ReadPosRankSum=-4.882;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,402:868:99:0|1:31029784_AGGCTCT_*:9352,0,16170:31029784	15	0	3	1
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,64:148:99:.:.:2408,0,3298:.	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,28:70:99:0|1:31270188_G_C:970,0,1634:31270188	10	0	9	0
chr6	31271295	31271295	G	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C397T:p.L133F,HLA-C:NM_002117:exon3:c.C397T:p.L133F	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00217142621672	.	.	0.0017	0	0.0010	0	0.0003	0.0020	0.0047	0.0033	3.84e-05	1	26028	rs201232509	4.189e-05	0.0006	3.548e-05	4.826e-05	0.0008	3.193e-05	2.85e-05	0.0005	0.0004	0	0.0008	5.85e-05	0	5.905e-05	0	1.691e-05	0	7.077e-05	1.456e-05	0.0002	0	3.043e-05	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.129	0.26852	T	0.261	0.22962	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999994	0.08975	N	.	.	.	9.43	0.00008	T	-2.12	0.49187	N	0.103	0.09490	-0.9700	0.37200	T	0.039	0.16892	T	9	0.053365707	0.05516	T	0.002171	0.04071	T	0.149	0.39377	.	.	0.15556083564	0.15200	0.05197114042866421	0.05139	1.46494527933	0.86431	0.243654131889	0.03128	T	0.03788	0.24637	T	-0.190747	0.22149	T	-0.511772	0.21132	T	0.0786905586719513	0.09819	T	0.244676	0.09330	T	.	.	.	.	.	.	.	.	-5.97	0.46028	T	.	.	0.142	0.31177	B	.;.;.	.;.;.	1.437331	0.18565	13.80	0.97521242843416844	0.34405	0.01752	0.05517	N	ALL	0.145460	0.26868	N	-0.848663386786969	0.12082	0.5868329	-1.0804277795709	0.08086	0.3960589	0.999999936443293	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	2.81	-2.84	0.05408	-3.523000	0.00493	.	.	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4266:0.0:0.2662:0.3072	3.235	0.06360	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	0.004334	0.010101	0.004076	0.005000	0.000000	0.008621	0.003067	0.000000	0.02632	807.33	190	chr6	31271295	.	G	A	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=2355;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.57;MQRankSum=-5.61;QD=6.16;ReadPosRankSum=0.905;SOR=1.378	GT:AD:DP:GQ:PL	0/1:104,27:131:99:821,0,4245	18	0	1	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:159,17:176:77:.:.:77,0,5221:.	11	0	8	0
chr6	31356389	31356389	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.C397T:p.L133F	.	10	1431	80	1	0	82	0.0278533	.	.	.	2822865	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.140	.	0.0041	0.00638978	0.0074	0.0006	0.0080	0.0003	0.0012	0.0095	0.0134	0.0078	0.0062548	967	154602	rs41558819	0.0010	0.0030	0.0010	0.0011	0.0076	0.0010	0.0009	0.0048	0.0039	0.0030	0.0019	0.0214	0	0.0002	0.0076	0.0005	0.0021	0.0018	0.0001	0.0027	3.967e-05	0.0002	0.0005	4.008e-05	2.601e-05	9.181e-05	3.756e-05	0	0	0.0005	0.0022	0	0	0	7.945e-05	0	0	0.122	0.54683	T	0.293	0.29945	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	.	.	.	9.43	0.00008	T	-2.31	0.51319	N	0.173	0.18512	-0.9694	0.37324	T	0.001	0.00438	T	9	0.008583397	0.00194	T	.	.	.	0.140	0.37593	.	.	0.0138822411134	0.00435	0.027354080535157824	0.02685	0.241525953006	0.26679	.	.	.	0.024715	0.18622	T	-0.504179	0.00542	T	-0.484671	0.23951	T	0.0032787161966323	0.00035	T	0.359464	0.10645	T	0.25326553	0.48348	0.1667133	0.38500	0.25326553	0.48348	0.1667133	0.38499	-6.628	0.51267	T	.	.	0.112	0.31253	B	.;.;.	.;.;.	0.971080	0.13483	9.992	0.93170873193506787	0.22827	0.01842	0.05707	N	ALL	0.081868	0.16572	N	-1.25342463206928	0.04255	0.1916679	-1.32756566347898	0.04078	0.1915775	0.999999866091929	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-2.16	0.06684	-0.457000	0.06821	.	.	-1.964000	0.00474	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3627:0.0:0.4948:0.1425	5.008	0.13642	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	1	0	0.019707	0.005435	0.039326	0.000000	0.100000	0.008772	0.019231	0.000000	0.02632	441.33	49	chr6	31356389	.	G	A	441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=1386;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.07;MQRankSum=-2.03;QD=7.61;ReadPosRankSum=-2.382;SOR=0.67	GT:AD:DP:GQ:PL	0/1:44,14:58:99:455,0,1805	18	0	1	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,77:77:99:1|1:31356739_C_A:3465,232,0:31356739	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,143:143:99:1|1:31356818_C_G:6401,430,0:31356818	3	7	9	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,35:64:99:1|0:31412380_TGCTG_T:2661,1052,1090:31412380	12	0	7	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,35:64:38:1|0:31412380_TGCTG_T:1609,0,38:31412380	7	1	11	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,32:114:99:0|1:31625601_T_C:491,0,2628:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,32:114:99:0|1:31625601_T_C:491,0,2628:31625601	1	0	16	2
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107961	0.272727	0.058424	0.026596	0.250000	0.051724	0.138037	0.094697	0.05263	5178.79	38	chr6	31954625	.	TCGATCC	T	5178.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=1081;ExcessHet=0.119;FS=0.424;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=0.756;SOR=0.645	GT:AD:DP:GQ:PL	0/1:71,71:142:99:2693,0,2675	17	0	2	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,105:258:99:0|1:32521957_G_A:3938,0,6108:32521957	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,98:253:99:0|1:32521957_G_A:3648,0,6213:32521957	5	0	11	3
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	4391.26	169	chr6	32522104	.	G	*	4391.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.87;DP=2472;ExcessHet=5.3738;FS=13.689;InbreedingCoeff=-0.3098;MLEAC=7;MLEAF=0.184;MQ=44.54;MQRankSum=5.13;QD=5.09;ReadPosRankSum=5.61;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,18:47:99:0|1:32522086_T_C:669,0,1132:32522086	12	0	7	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,26:65:99:0|1:32522156_T_*:2729,1638,1559:32522156	11	0	8	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10272.1	171	chr6	32522157	.	C	*	10272.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.368;DP=2422;ExcessHet=1.0106;FS=0.579;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.84;MQRankSum=-11.54;QD=6.02;ReadPosRankSum=1.85;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,26:65:99:0|1:32522156_T_*:2729,1638,1559:32522156	12	0	7	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10338.1	171	chr6	32522159	.	T	*	10338.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.296;DP=2407;ExcessHet=1.0106;FS=1.216;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.76;MQRankSum=-11.38;QD=6.16;ReadPosRankSum=2.19;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,26:65:99:0|1:32522156_T_*:2729,1638,1559:32522156	12	0	7	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42:42:99:1|1:32530183_CTT_C:1849,126,0:32530183	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42:42:99:1|1:32530183_CTT_C:1849,126,0:32530183	2	5	11	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,84:84:99:1|1:32584176_CCG_C:3775,253,0:32584176	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,84:84:99:1|1:32584176_CCG_C:3775,253,0:32584176	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,172:335:99:0|1:32584366_C_T:14292,6856,6322:32584366	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,108:108:99:1|1:32641430_C_T:4860,325,0:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,108:108:99:1|1:32641430_C_T:4860,325,0:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,102:102:99:1|1:32641430_C_T:4586,307,0:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,102:102:99:1|1:32641430_C_T:4586,307,0:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,75:75:99:1|1:32641476_G_A:3375,226,0:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:32641476_G_A:3540,244,0:32641476	4	4	11	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2816.55	208	chr6	32976813	.	G	C	2816.55	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.205;DP=2575;ExcessHet=11.1788;FS=157.461;InbreedingCoeff=-0.4982;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.4;SOR=11.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,39:150:99:0|1:32976813_G_C:311,0,3425:32976813	12	0	6	1
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,10:47:9:.:.:9,0,589:.	3	0	11	5
chr6	36720510	36720510	G	A	exonic	RAB44	.	nonsynonymous SNV	RAB44:NM_001257357:exon8:c.G976A:p.A326T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.387e-05	1.847e-05	8.76e-06	1.959e-05	1.521e-05	8.33e-06	6.6e-06	8.83e-06	6.91e-06	0	0	0	0	0	0	1.521e-05	2.284e-05	0	6.572e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.112	0.37037	T	.	.	.	.	.	.	.	.	.	.	0.969832	0.25734	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	.	.	.	.	.	.	.	0.11046749	0.20648	T	.	.	.	.	.	.	.	0.187945064343	0.18414	0.15856884854844897	0.15777	.	.	0.372674047947	0.21215	T	.	.	.	0.0297115	0.55684	T	-0.195098	0.55110	T	.	.	.	0.517648	0.16760	T	0.024089802	0.01207	0.13137104	0.31548	0.024089802	0.01207	0.13137104	0.31547	-6.578	0.50885	T	.	.	0.12	0.24767	B	.	.	1.637894	0.20906	14.96	0.76495778269658532	0.11491	0.09533	0.15268	N	AEFDGBHCI	0.034362	0.04242	N	.	.	.	.	.	.	0.912604029818351	0.26400	0.077194	0.01811	0	0.071152	0.01849	0	0.060301	0.00762	0	0.083433	0.02327	0	.	.	4.53	2.67	0.30756	0.462000	0.21667	0.039000	0.13841	0.614000	0.49286	0.035000	0.20724	0.000000	0.08366	0.311000	0.24761	0.0:0.1859:0.6216:0.1925	7.405	0.26156	810	0.42761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	625.33	35	chr6	36720510	.	G	A	625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.473;DP=699;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.44;SOR=0.841	GT:AD:DP:GQ:PL	0/1:32,25:57:99:639,0,798	18	0	1	0
chr6	41228834	41228834	C	T	exonic	TREML4	.	nonsynonymous SNV	TREML4:NM_198153:exon2:c.C184T:p.R62W	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0191583809234	.	0.000599042	0.0005	0	8.637e-05	0	0	7.493e-05	0	0.0033	0.0004269	66	154602	rs200638061	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	6.708e-05	0.0003	0	0	0.0023	3.237e-05	0.0004	0.0030	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.235e-05	0.0018	0.0014	0	0	6.533e-05	0.0003	0	0	0	0.0001	0.0005	0.0029	0.039	0.42487	D	0.059	0.45961	T	0.169	0.28678	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	2.715	0.79425	M	-0.19	0.65931	T	-2.32	0.51478	N	0.081	0.05799	-1.0807	0.07214	T	0.065	0.26948	T	9	0.010712922	0.00237	T	0.019158	0.41446	T	0.125	0.34456	.	.	0.0482279557977	0.04254	0.20330204343147407	0.20247	0.0322088536778	0.03353	0.185254722834	0.00152	T	0.016713	0.13762	T	-0.542186	0.00325	T	-0.555892	0.16765	T	0.0276946511148524	0.01644	T	0.349165	0.07749	T	0.040865477	0.05912	0.050622743	0.07982	0.040865477	0.05912	0.050622743	0.07981	-4.719	0.33634	T	.	.	0.126	0.26825	B	.;.	.;.	-1.411991	0.00352	0.006	0.75796612860227541	0.11214	0.01918	0.05863	N	ALL	0.035849	0.04681	N	-1.92640391321009	0.00303	0.01300183	-2.09913866290265	0.00187	0.00824067	0.999999999997308	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.542086	0.14980	0	.	.	4.35	-8.7	0.00738	-2.214000	0.01307	-14.148000	0.00419	-3.462000	0.00083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1329:0.4011:0.1694:0.2967	2.413	0.04159	911	0.21964	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2109.83	40	chr6	41228834	.	C	T	2109.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.397;DP=863;ExcessHet=0.119;FS=1.266;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.349;SOR=0.559	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1074,0,1006	17	0	2	0
chr6	42142395	42142395	T	C	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon1:c.A50G:p.K17R	.	391	1081	48	2	0	52	0.0234869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0061	0.00898562	0.0146	0.0009	0.0099	0.0016	0.0433	0.0091	0.0260	0.0245	0.0035511	549	154602	rs138013556	0.0092	0.0089	0.0088	0.0097	0.0242	0.0091	0.0091	0.0233	0.0230	0.0010	0.0038	0.0034	5.597e-05	0.0180	0.0136	0.0087	0.0080	0.0242	0.0081	0.0081	0.0078	0.0084	0.0238	0.0077	0.0076	0.0203	0.0190	0.0012	0	0.0033	0.0032	0	0.0181	0.0068	0.0118	0.0038	0.0238	0.033	0.44358	D	0.046	0.49120	D	.	.	.	.	.	.	0.025124	0.26142	N	0.263134	0.992795	0.23824	N	1.43	0.35840	L	0.08	0.61559	T	-1.83	0.55821	N	0.094	0.07398	-1.0601	0.11731	T	0.066	0.27087	T	8	0.0038990676	0.00074	T	.	.	.	0.052	0.14661	.	.	.	.	0.1582670425571511	0.15747	.	.	.	.	.	0.026122	0.19398	T	-0.490269	0.00647	T	-0.458761	0.26736	T	0.0113426682460786	0.00168	T	0.630137	0.26349	T	0.08512834	0.19732	0.17037952	0.39143	0.08512834	0.19732	0.17037952	0.39142	-7.258	0.55896	T	.	.	0.112	0.21803	B	.;.	.;.	2.579607	0.33447	19.34	0.99408907045625905	0.63169	0.74913	0.36659	D	AEFDBCI	0.280787	0.39452	N	0.0307429045213938	0.43257	2.622233	0.103904128617391	0.44748	2.750582	0.999999972454606	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	5.66	3.28	0.36691	2.066000	0.41078	2.670000	0.33941	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.1742:0.0:0.8258	7.218	0.25145	797	0.45241	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012121	0.005435	0.019231	0.012605	0.000000	0.000000	0.015306	0.026786	0.07895	3818.77	33	chr6	42142395	.	T	C	3818.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.757;DP=792;ExcessHet=0;FS=1.98;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.48;ReadPosRankSum=0.373;SOR=0.546	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1188,0,1343	17	1	1	0
chr6	42745569	42745569	G	A	exonic	TBCC	.	nonsynonymous SNV	TBCC:NM_003192:exon1:c.C505T:p.P169S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0006	0.0101837	0.0059	0.0018	0.0004	0.0490	0.0085	0.0017	0.0052	0.0048	0.0047541	735	154602	rs2234027	0.0025	0.0025	0.0024	0.0026	0.0465	0.0024	0.0024	0.0447	0.0440	0.0016	0.0003	0.0009	0.0465	0.0090	0.0010	0.0004	0.0043	0.0063	0.0037	0.0037	0.0035	0.0039	0.0480	0.0034	0.0033	0.0431	0.0412	0.0020	0	0.0020	0.0012	0.0480	0.0094	0	0.0006	0.0033	0.0099	0.375	0.11370	T	0.272	0.22223	T	0.004	0.12183	B	0.002	0.06944	B	0.000405	0.44736	D	0.189655	1	0.08975	N	1.055	0.26876	L	-0.91	0.75001	T	-0.49	0.15578	N	0.024	0.00445	-0.9806	0.34863	T	0.108	0.39270	T	10	0.002331376	0.00034	T	.	.	.	0.141	0.37795	.	.	0.301122078929	0.29733	0.40310114882651643	0.40226	.	.	0.26483091712	0.05480	T	0.02042	0.16081	T	-0.592881	0.00161	T	-0.586424	0.13976	T	0.00255495377341722	0.00027	T	0.455954	0.13062	T	0.04081184	0.05896	0.08117244	0.18424	0.04081184	0.05895	0.08117244	0.18424	-2.995	0.10127	T	.	.	0.070	0.03443	B	.	.	0.548081	0.09168	5.949	0.84720956909588874	0.15458	0.08350	0.14290	N	ALL	0.088528	0.17946	N	-0.948168287605445	0.09733	0.4619788	-0.982048075392835	0.10189	0.511572	0.99999974383507	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.99	1.09	0.19517	-0.558000	0.06069	0.178000	0.15598	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.1477:0.4191:0.4332:0.0	7.438	0.26338	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002528	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.011450	0.02632	879.33	35	chr6	42745569	.	G	A	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.241;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.099;SOR=0.607	GT:AD:DP:GQ:PL	0/1:27,32:59:99:893,0,747	18	0	1	0
chr6	44276274	44276274	G	A	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon3:c.G1448A:p.R483Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.579273161958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.281e-06	1.094e-05	3.212e-06	1.368e-05	3.773e-05	4.19e-06	3.05e-06	6.26e-06	2.34e-06	0	0	0	0	0	0	7.077e-06	2.02e-05	3.773e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.089	0.40426	T	0.669	0.41149	P	0.036	0.22909	B	0.000448	0.44317	U	0.145378	0.986101	0.81001	D	1.6	0.40776	L	.	.	.	-1.16	0.29727	N	0.188	0.20528	-1.0257	0.21853	T	0.059	0.24723	T	9	0.28771186	0.46354	T	0.579273	0.96224	D	0.135	0.36572	0.254	0.19378	0.110078149338	0.10416	0.5237042331030716	0.52294	.	.	0.884602308273	0.94572	D	0.010225	0.09253	T	-0.0215371	0.48634	T	-0.268713	0.47950	T	0.952814042568207	0.63880	D	0.917308	0.70348	D	0.21569856	0.44010	0.19510849	0.43170	0.21569856	0.44010	0.19510849	0.43169	-5.434	0.41245	T	.	.	0.178	0.38853	B	.	.	3.933310	0.57511	23.9	0.99801367845013023	0.88639	0.91360	0.53377	D	AEFDBHCIJ	0.692566	0.65218	D	0.107769570853805	0.46826	2.917019	0.181312961699331	0.48825	3.093194	0.999999999997634	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	3.66	3.66	0.41111	5.975000	0.70167	11.481000	0.92892	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.610	0.76452	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	473.33	33	chr6	44276274	.	G	A	473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.354;DP=662;ExcessHet=0;FS=1.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.96;SOR=0.43	GT:AD:DP:GQ:PL	0/1:13,19:32:99:487,0,311	18	0	1	0
chr6	49848287	49848287	C	T	exonic	CRISP1	.	nonsynonymous SNV	CRISP1:NM_001131:exon4:c.G208A:p.E70K,CRISP1:NM_001205220:exon4:c.G208A:p.E70K,CRISP1:NM_170609:exon4:c.G208A:p.E70K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00256716953776	.	.	1.661e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs752317042	5.519e-06	6.841e-06	4.12e-06	6.932e-06	0.0002	2.37e-06	1.72e-06	4.944e-05	3.19e-05	0	0	0	0.0001	0	0.0002	1.809e-06	0	0	6.601e-06	6.576e-06	0	1.353e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.106	0.32769	T	0.223	0.33219	T	0.408	0.35000	B	0.066	0.29270	B	0.043086	0.23774	N	0.452325	0.999004	0.21718	N	1.43	0.35840	L	3.03	0.08898	T	-1.87	0.43717	N	0.205	0.23380	-0.9667	0.37874	T	0.007	0.02598	T	9	0.14009175	0.26631	T	0.002567	0.05178	T	0.027	0.05988	0.447	0.50629	0.298056030225	0.29408	0.41560062105162066	0.41476	0.0246665095138	0.02506	0.345405757427	0.17243	T	0.066799	0.33036	T	-0.466916	0.00889	T	-0.639169	0.09729	T	0.0973339230997829	0.12060	T	0.777722	0.41106	T	0.047565464	0.08151	0.07192713	0.15459	0.047565464	0.08151	0.07192713	0.15459	-6.074	0.47866	T	.	.	0.148	0.32637	B	.;.;.;.	.;.;.;.	1.561227	0.19999	14.54	0.98977525652259335	0.49660	0.03604	0.08833	N	AEFBI	0.053840	0.09736	N	-0.448852767840664	0.23778	1.279374	-0.480950975421705	0.22678	1.23301	4.01472536688507E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	2.77	0.31614	0.398000	0.20624	0.763000	0.21331	0.596000	0.33519	0.005000	0.17040	0.005000	0.19230	0.417000	0.27162	0.0:0.6639:0.2176:0.1185	5.069	0.13935	815	0.41851	.;CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain;.;CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	40	chr6	49848287	.	C	T	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.472;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=-0.39;SOR=0.678	GT:AD:DP:GQ:PL	0/1:16,27:43:99:740,0,398	18	0	1	0
chr6	56609241	56609241	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.G4754A:p.R1585K,DST:NM_001374722:exon40:c.G5387A:p.R1796K,DST:NM_001374734:exon40:c.G5414A:p.R1805K,DST:NM_001374736:exon40:c.G5387A:p.R1796K	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0184331270983	.	.	5.799e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs199965129	5.542e-05	5.541e-05	3.132e-05	7.978e-05	0.0009	4.544e-05	4.156e-05	0.0007	0.0006	0	0	0	0	0	0.0002	1.799e-06	6.626e-05	0.0009	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.51	0.43393	T	0.02	0.58613	D	0.699	0.41837	P	0.306	0.41250	B	0.000032	0.55875	D	0.000000	.	.	.	.	.	.	-1.2	0.78537	T	-0.7	0.32791	N	0.499	0.53181	-0.8553	0.51599	T	0.186	0.53511	T	8	0.111664504	0.20918	T	0.018433	0.40491	T	0.298	0.61843	.	.	0.661817716864	0.65898	.	.	.	.	.	.	.	0.038932	0.25016	T	-0.239277	0.15442	T	-0.198265	0.54810	T	0.0828739429402372	0.10350	T	0.837416	0.52967	T	.	.	.	.	.	.	.	.	-4.79	0.34475	T	.	.	.	.	.	.;.	.;.	3.153925	0.42703	21.6	0.9894734224699433	0.49055	0.93546	0.58512	D	AEFGBI	0.354898	0.44682	N	0.0967808855583251	0.46312	2.873529	0.154609491042607	0.47388	2.969665	0.701839186375844	0.22709	0.706548	0.73137	0	0.546412	0.12157	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.6	3.8	0.42887	1.986000	0.40299	4.063000	0.41603	0.599000	0.40250	0.937000	0.32526	1.000000	0.68203	0.984000	0.60418	0.0:0.732:0.1285:0.1395	8.437	0.31956	256	0.89942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1363.33	40	chr6	56609241	.	C	T	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.51;DP=858;ExcessHet=0;FS=4.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.123;SOR=1.181	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1377,0,1842	18	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,21:57:99:0|1:80007990_G_C:547,0,1272:80007990	4	0	10	5
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,21:52:99:1|0:80007990_G_C:757,0,1241:80007990	1	0	11	7
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	TCCCC	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,21:52:99:.:.:764,0,1175:.	6	0	4	9
chr6	83044450	83044450	G	T	exonic	UBE3D	.	nonsynonymous SNV	UBE3D:NM_001350603:exon3:c.C14A:p.S5Y,UBE3D:NM_001304437:exon4:c.C479A:p.S160Y,UBE3D:NM_198920:exon4:c.C575A:p.S192Y,UBE3D:NM_001350602:exon5:c.C479A:p.S160Y,UBE3D:NM_001350604:exon5:c.C14A:p.S5Y	.	425	1070	21	6	0	33	0.0151864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0169660531318	0.0013	0.00139776	0.0019	0.0003	0.0009	0	0	0.0025	0.0011	0.0028	0.0002781	43	154602	rs142920762	0.0015	0.0015	0.0014	0.0016	0.0109	0.0015	0.0014	0.0088	0.0080	5.974e-05	0.0012	0.0047	2.519e-05	0	0.0109	0.0014	0.0023	0.0029	0.0011	0.0011	0.0010	0.0011	0.0018	0.0009	0.0009	0.0015	0.0014	0.0002	0	0.0011	0.0014	0	9.418e-05	0.0102	0.0018	0.0014	0.0012	0.012	0.54683	D	0.334	0.18340	T	0.551	0.38139	P	0.202	0.36942	B	0.470169	0.12287	N	0.718775	0.999956	0.19072	N	1.795	0.47270	L	1.36	0.34452	T	-2.62	0.56301	D	0.273	0.30914	-1.0839	0.06609	T	0.045	0.19234	T	10	0.011587679	0.00253	T	0.016966	0.38471	T	0.042	0.11227	.	.	0.334659703779	0.33074	0.3617755826504025	0.36091	0.879427020932	0.69712	0.325996041298	0.14328	T	0.081403	0.36589	T	-0.477369	0.00766	T	-0.464032	0.26163	T	0.0256460664550448	0.01358	T	0.622538	0.23960	T	0.13779564	0.31892	0.19621018	0.43340	0.13779564	0.31892	0.19621018	0.43339	-6.868	0.53063	T	.	.	0.107	0.20078	B	.	.	2.183899	0.27838	17.60	0.95444514876275222	0.26955	0.67987	0.33633	D	AEFDBHCI	0.132553	0.25190	N	-0.247992029548998	0.31184	1.746012	-0.291952657994726	0.28362	1.580881	0.969250586910865	0.29114	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.91	2.75	0.31439	2.089000	0.41297	3.659000	0.39401	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.029000	0.12982	0.2886:0.0:0.7114:0.0	8.611	0.32961	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.006793	0.002924	0.000000	0.017241	0.015244	0.015152	0.02632	1312.33	35	chr6	83044450	.	G	T	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=751;ExcessHet=0;FS=2.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.97;SOR=1.061	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1326,0,1061	18	0	1	0
chr6	83352101	83352101	G	C	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon4:c.C401G:p.A134G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0174298839709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0039	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0007	4.803e-05	0.0001	0.0001	4.058e-05	0.0008	0.0009	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.421	0.14075	T	0.121	0.26708	B	0.092	0.30031	B	0.020936	0.26936	N	0.457490	0.999111	0.81001	D	1.465	0.36909	L	0.93	0.44065	T	-1.58	0.38151	N	0.549	0.57518	-1.0932	0.05020	T	0.052	0.22114	T	10	0.39324778	0.55043	T	0.01743	0.39125	T	0.071	0.20720	0.433	0.48336	0.590228304998	0.58699	0.7456373293965067	0.74509	0.0422964412412	0.04561	0.445081591606	0.31272	T	0.185202	0.53810	T	-0.145968	0.28945	T	-0.44745	0.27978	T	0.611459136009216	0.36859	D	0.89921	0.64678	D	0.2825711	0.51294	0.16329293	0.37888	0.2825711	0.51294	0.16329293	0.37887	-6.758	0.52246	T	.	.	0.112	0.22061	B	.	.	2.730338	0.35734	19.98	0.96542643590327337	0.30193	0.96966	0.71921	D	AEFI	0.728759	0.67668	D	-0.180866953640128	0.33931	1.930802	-0.064166871410528	0.36883	2.152253	0.974719722080506	0.29567	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.76	4.88	0.63131	3.794000	0.55196	7.350000	0.58291	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.194000	0.21720	0.0:0.1371:0.8629:0.0	15.707	0.77352	746	0.52331	Malic enzyme, N-terminal domain|Malic enzyme, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	54.35	16	chr6	83352101	.	G	C	54.35	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.283;DP=657;ExcessHet=0.8031;FS=445.697;InbreedingCoeff=-0.1432;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.51;SOR=9.149	GT:AD:DP:GQ:PL	0/1:26,9:35:11:11,0,369	13	0	4	2
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	996.02	46	chr6	87418396	.	G	C	996.02	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.179;DP=1225;ExcessHet=5.3738;FS=245.846;InbreedingCoeff=-0.41;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.97;SOR=11.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,27:70:99:.:.:173,0,591:.	6	0	9	4
chr6	109379644	109379644	T	C	exonic	CD164	.	nonsynonymous SNV	CD164:NM_001142401:exon2:c.A194G:p.N65S,CD164:NM_001142402:exon2:c.A194G:p.N65S,CD164:NM_001142403:exon2:c.A194G:p.N65S,CD164:NM_001142404:exon2:c.A194G:p.N65S,CD164:NM_001346500:exon2:c.A92G:p.N31S,CD164:NM_006016:exon2:c.A194G:p.N65S	.	437	1082	3	0	0	3	0.0013844	.	.	.	443845	CD164-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.096	0.00956801323734	0.0009	0.000599042	0.0010	0	0.0003	0	0.0042	0.0011	0.0077	0.0008	0.0008991	139	154602	rs145357332	0.0009	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0007	8.964e-05	0.0006	0	0	0.0042	0.0007	0.0008	0.0006	0.0008	0.0008	0.0008	0.0007	0.0010	0.0010	0.0007	0.0007	0.0008	0.0007	9.62e-05	0	0.0003	0	0	0.0040	0	0.0010	0.0019	0.0010	0.328	0.33418	T	0.525	0.40426	T	0.042	0.44688	B	0.015	0.39840	B	0.790252	0.06707	N	1.110990	1	0.08975	N	1.69	0.43327	L	0.62	0.53302	T	-1.5	0.63323	N	0.23	0.25867	-1.0590	0.12007	T	0.038	0.16462	T	10	0.014536887	0.00306	T	0.009568	0.25039	T	0.096	0.27654	.	.	0.442567846599	0.43878	0.15859677620634055	0.15780	0.273319521446	0.29833	0.302754878998	0.10813	T	0.028504	0.20633	T	-0.525109	0.00411	T	-0.567593	0.15671	T	0.0223659163062489	0.00950	T	0.759324	0.38541	T	0.068990335	0.15076	0.04915929	0.07453	0.043061264	0.06642	0.045344025	0.06080	-2.474	0.05607	T	.	.	0.083	0.27762	B	.;.;.;.;.;.	.;.;.;.;.;.	2.059561	0.26183	17.03	0.97200080320011728	0.32806	0.09867	0.15524	N	AEFDBCI	0.093120	0.18845	N	-0.680040399550166	0.16591	0.8466785	-0.760642078673624	0.15461	0.8132705	0.999954639314584	0.48110	0.722319	0.85440	0	0.672317	0.65289	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	3.8	1.15	0.19876	0.380000	0.20331	-0.723000	0.07696	0.609000	0.47794	0.244000	0.24789	0.000000	0.08366	0.840000	0.39645	0.0:0.1213:0.2955:0.5832	4.128	0.09603	551	0.72115	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1338.33	34	chr6	109379644	.	T	C	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.556;DP=748;ExcessHet=0;FS=2.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.876;SOR=0.504	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1352,0,1524	18	0	1	0
chr6	116433436	116433436	G	A	exonic	DSE	.	nonsynonymous SNV	DSE:NM_001080976:exon5:c.G1004A:p.R335H,DSE:NM_001322939:exon5:c.G1061A:p.R354H,DSE:NM_001322941:exon5:c.G443A:p.R148H,DSE:NM_013352:exon5:c.G1004A:p.R335H,DSE:NM_001322937:exon6:c.G1004A:p.R335H,DSE:NM_001322938:exon6:c.G1004A:p.R335H,DSE:NM_001322940:exon6:c.G443A:p.R148H,DSE:NM_001374520:exon6:c.G5A:p.R2H	.	426	1094	2	0	0	2	0.000913242	.	.	.	368680	Ehlers-Danlos_syndrome,_musculocontractural_type_2|not_provided	MONDO:MONDO:0014236,MedGen:C3809845,OMIM:615539,Orphanet:2953|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0250169210345	7.8e-05	.	9.493e-05	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs371480627	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0003	0.0003	3.16e-05	0.0005	0	0.0005	0.0020	0	7.228e-05	0.0003	2.524e-05	0.0001	0.0001	0.0001	0.0001	0.0001	9.152e-05	7.707e-05	2.262e-05	1.124e-05	4.826e-05	0	0.0001	0	0	0.0012	0	5.88e-05	0	0	0.007	0.59928	D	0.006	0.70582	D	0.998	0.73220	D	0.882	0.62632	P	0.000000	0.84330	D	0.050989	1	0.81001	D	2.255	0.64187	M	1.96	0.22270	T	-2.5	0.54382	D	0.438	0.47672	-1.1168	0.02545	T	0.093	0.35417	T	10	0.13954371	0.26531	T	0.025017	0.48002	D	0.203	0.48915	.	.	0.640367608718	0.63740	0.8588925201882677	0.85852	0.958394088486	0.72909	0.716882109642	0.69593	T	0.520194	0.83206	D	-0.208357	0.19612	T	-0.175156	0.56970	T	0.107315687374201	0.13142	T	0.90181	0.65830	D	0.32153904	0.54770	0.19317672	0.42873	0.32153904	0.54770	0.19317672	0.42872	-8.246	0.62734	D	0.7113737887207967	0.79164	0.134	0.29311	B	.;.;.	.;.;.	5.427018	0.90767	31	0.99937808080715218	0.99698	0.96626	0.70088	D	AEFDBI	0.684926	0.64710	D	0.718130831784899	0.80820	7.380004	0.731561244568897	0.84775	8.386955	0.999999987755721	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.76	5.76	0.90726	3.574000	0.53608	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	20.332	0.98722	534	0.73357	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	527.33	40	chr6	116433436	.	G	A	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.372;DP=725;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-2.852;SOR=0.89	GT:AD:DP:GQ:PL	0/1:31,23:54:99:541,0,757	18	0	1	0
chr6	125759206	125759206	G	A	exonic	HEY2	.	nonsynonymous SNV	HEY2:NM_012259:exon5:c.G418A:p.V140M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.018932143346	.	0.00119808	0.0004	0	0	0.0052	0	1.502e-05	0	0	0.0003428	53	154602	rs3734638	0.0004	0.0004	0.0004	0.0004	0.0133	0.0004	0.0003	0.0123	0.0120	0	0	0	0.0133	0	0	1.529e-05	0.0002	3.478e-05	0.0003	0.0003	0.0003	0.0002	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0.0068	9.42e-05	0	2.94e-05	0	0.0002	0.136	0.39820	T	0.283	0.38016	T	0.809	0.45342	P	0.33	0.42079	B	0.000200	0.48115	D	0.083458	1	0.81001	D	0.78	0.19475	N	0.87	0.46412	T	-1.17	0.31375	N	0.575	0.62188	-1.1044	0.03598	T	0.042	0.17952	T	10	0.010656804	0.00236	T	0.018932	0.41149	T	0.108	0.30607	.	.	0.465633601861	0.46191	0.6674087234490669	0.66678	0.572036723989	0.53309	0.711754322052	0.68847	T	0.216837	0.57911	T	-0.308591	0.07873	T	-0.215642	0.53155	T	0.0710703666010735	0.08800	T	0.936106	0.76057	D	0.06753746	0.14634	0.12424834	0.29951	0.06753746	0.14633	0.12424834	0.29951	-8.281	0.62969	D	.	.	0.208	0.43489	B	.;.	.;.	4.006843	0.59081	24.1	0.99707937219264109	0.81143	0.90236	0.51253	D	ALL	0.840636	0.75790	D	0.232386196061189	0.52774	3.449545	0.373387274957633	0.59928	4.175135	1.0	0.98316	0.77792	0.99625	0	0.61073	0.52368	0	0.854111	0.99894	0	0.638833	0.57524	0	.	.	5.54	5.54	0.82907	5.769000	0.68518	9.860000	0.82050	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.467	0.94938	932	0.16191	Orange domain|Orange domain|Orange domain;Orange domain|Orange domain|Orange domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1694.33	34	chr6	125759206	.	G	A	1694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=752;ExcessHet=0;FS=3.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.279;SOR=1.013	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1708,0,1440	18	0	1	0
chr6	129353339	129353339	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon32:c.G4699A:p.E1567K,LAMA2:NM_001079823:exon32:c.G4699A:p.E1567K	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	560580	not_provided|LAMA2-related_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0145008288196	7.7e-05	.	1.649e-05	0	0	0	0	1.5e-05	0	6.057e-05	1.29e-05	2	154602	rs371388948	8.894e-06	8.893e-06	9.53e-06	8.251e-06	0.0003	4.96e-06	3.82e-06	6.105e-05	2.526e-05	2.988e-05	0	0	0	0	0.0003	5.396e-06	1.656e-05	3.479e-05	1.315e-05	1.313e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.902	0.02412	T	.	.	.	0.157	0.28234	B	0.056	0.26147	B	0.000878	0.41335	D	0.246336	0.532734	0.31477	N	1.25	0.31749	L	0.59	0.53943	T	-0.74	0.20791	N	0.424	0.46368	-1.0316	0.19937	T	0.045	0.19356	T	10	0.22528094	0.39353	T	0.014501	0.34657	T	0.130	0.35528	.	.	0.608018665328	0.60488	0.6217874070114341	0.62111	0.16675056428	0.18812	0.429192513227	0.29097	T	0.01559	0.29113	T	-0.276252	0.11069	T	-0.43194	0.29715	T	0.547737836837769	0.34392	D	0.880112	0.59716	D	0.08493717	0.19680	0.09694158	0.23055	0.08493717	0.19680	0.09694158	0.23055	-3.74	0.19910	T	0.5526393236223425	0.62108	0.102	0.18206	B	.;.;.	.;.;.	3.370401	0.46573	22.3	0.98118589316405924	0.38416	0.93652	0.58806	D	ALL	0.673837	0.63976	D	-0.114731305110144	0.36751	2.128547	0.0127322940641709	0.40305	2.403272	0.999999999999936	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.75	3.93	0.44666	5.596000	0.67261	6.600000	0.56053	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2375:0.6393:0.1232	12.505	0.55317	839	0.37672	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002523	0.000000	0.001362	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2506.33	39	chr6	129353339	.	G	A	2506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=789;ExcessHet=0;FS=4.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.067;SOR=0.454	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2520,0,2009	18	0	1	0
chr6	132461845	132461845	T	C	exonic	STX7	.	nonsynonymous SNV	STX7:NM_001326580:exon10:c.A709G:p.M237V	.	465	1055	2	0	0	2	0.00094697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00406283414238	.	.	0.0004	0	0	0	0	0.0004	0	0.0005	3.88e-05	6	154602	rs779199584	8.487e-05	8.414e-05	7.513e-05	9.491e-05	0.0050	7.221e-05	6.751e-05	0.0035	0.0030	6.358e-05	8.494e-05	0.0007	0	0	0.0050	3.165e-05	0.0002	0.0003	6.564e-05	6.561e-05	7.708e-05	5.369e-05	0.0002	3.513e-05	2.614e-05	1.972e-05	1.124e-05	0	0	0	0.0006	0	0	0.0102	5.879e-05	0	0.0002	0.051	0.39334	T	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	0.999996	0.58761	D	.	.	.	1.57	0.29342	T	0.84	0.01761	N	0.174	0.18649	-0.9915	0.32218	T	0.013	0.04890	T	6	0.045912325	0.03719	T	0.004063	0.09681	T	0.032	0.07718	0.341	0.33302	0.101711395817	0.09552	.	.	.	.	.	.	.	.	.	.	-0.572118	0.00215	T	-0.755037	0.03293	T	0.0204851030999364	0.00748	T	0.277772	0.04791	T	.	.	.	.	.	.	.	.	-2.544	0.06089	T	.	.	0.079	0.07083	B	.	.	0.877826	0.12511	9.040	0.34617805201853169	0.02127	0.55990	0.30003	D	AEFBI	0.055836	0.10272	N	-0.972287001596444	0.09199	0.4343823	-1.10141024778881	0.07674	0.3741794	0.992168796931262	0.32742	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.83	-7.47	0.01221	-0.606000	0.05750	-2.831000	0.03316	-0.802000	0.03151	0.934000	0.32416	0.000000	0.08366	0.069000	0.16583	0.1238:0.2392:0.3804:0.2566	2.065	0.03383	820	0.40914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1830.83	66	chr6	132461845	.	T	C	1830.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.195;DP=759;ExcessHet=0.119;FS=1.247;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=2.51;SOR=0.7	GT:AD:DP:GQ:PL	0/1:50,42:92:99:997,0,1362	17	0	2	0
chr6	148543952	148543952	C	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.C1765T:p.P589S,SASH1:NM_001346508:exon11:c.C2254T:p.P752S,SASH1:NM_001346509:exon11:c.C2131T:p.P711S,SASH1:NM_001346505:exon18:c.C2347T:p.P783S,SASH1:NM_015278:exon18:c.C2482T:p.P828S,SASH1:NM_001346506:exon19:c.C2110T:p.P704S	.	419	1087	16	0	0	16	0.00730594	.	.	.	3214557	SASH1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.0125042895155	0.0007	.	0.0012	0.0006	0.0012	0	0	0.0009	0.0022	0.0037	0.0010867	168	154602	rs147972493	0.0015	0.0015	0.0015	0.0016	0.0038	0.0015	0.0014	0.0035	0.0034	0.0002	0.0011	0	0	0	0.0021	0.0015	0.0015	0.0038	0.0007	0.0008	0.0009	0.0006	0.0025	0.0006	0.0006	0.0014	0.0011	0.0001	0.0077	0.0010	0	0	0	0.0068	0.0010	0	0.0025	0.035	0.43708	D	0.042	0.51421	D	0.001	0.07471	B	0.007	0.12992	B	0.000840	0.41547	N	0.278725	0.945397	0.37486	D	2.075	0.57047	M	1.2	0.37405	T	-1.86	0.43524	N	0.117	0.14054	-1.0922	0.05175	T	0.038	0.16462	T	10	0.0067847073	0.00154	T	0.012504	0.31128	T	0.030	0.07022	.	.	0.464528537357	0.46081	0.2787007431098075	0.27783	0.150520771333	0.16976	0.327679634094	0.14585	T	0.018183	0.19141	T	-0.54191	0.00326	T	-0.552983	0.17040	T	0.0204157287892247	0.00741	T	0.792821	0.43457	T	0.062609516	0.13096	0.065189876	0.13178	0.062609516	0.13096	0.065189876	0.13178	-4.022	0.24132	T	0.1412241834957998	0.15870	0.090	0.25817	B	.;.	.;.	2.563731	0.33207	19.27	0.97584639444950949	0.34758	0.82930	0.42094	D	AEFBI	0.160861	0.28685	N	-0.488446891105905	0.22458	1.199377	-0.40516096959555	0.24844	1.362845	0.995062197012738	0.33934	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	2.14	0.26518	1.111000	0.30773	1.100000	0.24060	-0.214000	0.08267	0.998000	0.41325	0.999000	0.35428	0.813000	0.38311	0.1949:0.6203:0.1084:0.0765	6.203	0.19801	957	0.09725	.;.	.	.	.	.	.	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	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	2873.33	37	chr6	148543952	.	C	T	2873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.84;DP=937;ExcessHet=0;FS=4.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=-1.173;SOR=0.823	GT:AD:DP:GQ:PL	0/1:82,95:177:99:2887,0,2216	18	0	1	0
chr6	149853077	149853077	C	T	exonic	LRP11	.	nonsynonymous SNV	LRP11:NM_032832:exon2:c.G697A:p.E233K	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0150557161445	7.7e-05	.	4.124e-05	0	0	0	0	4.503e-05	0	0.0001	3.23e-05	5	154602	rs11278	1.507e-05	1.505e-05	2.726e-06	2.753e-05	0.0002	9.86e-06	8.42e-06	0.0001	9.47e-05	3e-05	0	0	2.532e-05	0	0	3.6e-06	0	0.0002	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.142	0.25457	T	0.311	0.23845	T	0.933	0.52105	P	0.187	0.37572	B	0.001547	0.38671	N	0.311029	0.891038	0.81001	D	1.725	0.44537	L	3.66	0.09635	T	-2.82	0.61580	D	0.511	0.54234	-0.8810	0.49681	T	0.008	0.02884	T	10	0.33903348	0.50997	T	0.015056	0.35570	T	0.153	0.40148	.	.	0.458554320643	0.45480	0.411404270116858	0.41056	0.49164195058	0.47847	0.504627108574	0.39473	T	0.066278	0.32904	T	-0.303028	0.08377	T	-0.469455	0.25574	T	0.90947812795639	0.56439	D	0.938506	0.76886	D	0.23159006	0.45933	0.1935273	0.42927	0.23159006	0.45933	0.1935273	0.42926	-10.342	0.75934	D	.	.	0.168	0.47005	B	.;.	.;.	3.924798	0.57328	23.8	0.99811494419340019	0.89531	0.87219	0.46693	D	AEFBHCI	0.670236	0.63739	D	0.0903716326070991	0.46014	2.848476	0.125327165765524	0.45847	2.840821	0.999999014865989	0.74766	0.675385	0.55134	0	0.596491	0.49125	0	0.693117	0.63056	0	0.56214	0.19341	0	.	.	5.54	3.77	0.42499	7.413000	0.79318	0.997000	0.23233	0.597000	0.34315	1.000000	0.71638	0.456000	0.24978	0.922000	0.45779	0.0:0.8341:0.0:0.1659	9.514	0.38260	440	0.80101	PKD domain|PKD/Chitinase domain;PKD domain|PKD/Chitinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1537.83	34	chr6	149853077	.	C	T	1537.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.23;DP=762;ExcessHet=0.119;FS=1.3;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.04;SOR=0.822	GT:AD:DP:GQ:PL	0/1:42,29:71:99:666,0,980	17	0	2	0
chr6	152098916	152098916	C	T	exonic	ESR1	.	stopgain	ESR1:NM_000125:exon8:c.C1738T:p.Q580X,ESR1:NM_001122740:exon9:c.C1738T:p.Q580X,ESR1:NM_001122741:exon9:c.C1738T:p.Q580X,ESR1:NM_001291230:exon9:c.C1744T:p.Q582X,ESR1:NM_001291241:exon9:c.C1735T:p.Q579X,ESR1:NM_001385569:exon9:c.C1738T:p.Q580X,ESR1:NM_001122742:exon10:c.C1738T:p.Q580X,ESR1:NM_001385568:exon10:c.C1738T:p.Q580X	Estrogen resistance, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	1.361e-06	5.5e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031854	0.25111	N	0.395551	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.755	0.83473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;Dominant;Dominant;Dominant;.	High;High;High;High;.	9.566973	0.99080	42	0.99705007922783739	0.80936	0.92247	0.55274	D	AEFDBHCI	0.058628	0.11012	N	1.08957487492215	0.97936	17.06782	0.943874420378452	0.97215	15.76794	0.999999999999994	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	4.079000	0.57335	5.872000	0.50545	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.538	0.95253	922	0.19044	Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal domain;Oestrogen-type nuclear receptor final C-terminal 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	.	.	.	.	.	.	.	.	0.05263	2119.83	34	chr6	152098916	.	C	T	2119.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.897;DP=762;ExcessHet=0.119;FS=10.124;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.247;SOR=1.424	GT:AD:DP:GQ:PL	0/1:35,35:70:99:962,0,991	17	0	2	0
chr6	158503496	158503496	C	G	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C3833G:p.T1278S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0130161994096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921610162	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	3.828e-05	0	0	0.0002	5.396e-06	1.656e-05	0	2.629e-05	2.627e-05	3.855e-05	1.346e-05	7.246e-05	8.14e-06	5.14e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	1.47e-05	0	0	0.201	0.20306	T	0.506	0.10967	T	0.0	0.02946	B	0.002	0.06944	B	0.000059	0.53742	D	0.171063	1	0.81001	D	0.55	0.14455	N	0.15	0.60734	T	-1.14	0.29323	N	0.311	0.35088	-0.9917	0.32167	T	0.124	0.42841	T	10	0.11100438	0.20770	T	0.013016	0.32090	T	0.138	0.37187	0.133	0.03747	0.21174354426	0.20776	0.08603178360262545	0.08537	0.217586072924	0.24282	0.357842445374	0.19071	T	0.018553	0.14935	T	-0.270901	0.11657	T	-0.445379	0.28208	T	0.0612994655966759	0.07372	T	0.724828	0.33863	T	0.14030653	0.32377	0.11612683	0.28035	0.14030653	0.32377	0.11612683	0.28034	-3.136	0.11714	T	.	.	0.084	0.09917	B	.	.	1.899125	0.24122	16.28	0.73004702761358387	0.10173	0.97999	0.78758	D	AEFDBI	0.474027	0.51846	N	-0.161493671081776	0.34746	1.987121	-0.0749962012994723	0.36427	2.119785	0.999999999953758	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.18	5.18	0.71140	5.512000	0.66748	5.869000	0.50514	0.599000	0.40250	1.000000	0.71638	0.927000	0.28453	0.127000	0.19450	0.0:1.0:0.0:0.0	18.869	0.92277	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	.	.	.	.	.	.	.	.	0.02632	1823.33	127	chr6	158503496	.	C	G	1823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.006;DP=1213;ExcessHet=0;FS=2.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.577;SOR=0.473	GT:AD:DP:GQ:PL	0/1:41,72:113:99:1837,0,1040	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,50:53:78:1|1:170561949_GCAA_G:1886,78,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,48:99:99:1|0:170561949_GCAA_G:1739,0,1825:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,25:75:99:.:.:1621,0,1830:.	6	5	8	0
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	35.99	37	chr7	290724	.	A	G	35.99	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.313;DP=593;ExcessHet=0.119;FS=70.283;InbreedingCoeff=-0.0593;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=-0.271;SOR=6.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,3:27:17:0|1:290724_A_G:17,0,624:290724	17	0	2	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,3:27:17:0|1:290724_A_G:17,0,624:290724	2	0	16	1
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	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	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.07895	5149.79	35	chr7	1434651	.	T	G	5149.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=1028;ExcessHet=0.3672;FS=0.526;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.364;SOR=0.764	GT:AD:DP:GQ:PL	0/1:70,80:150:99:1859,0,1808	16	0	3	0
chr7	1478782	1478782	C	T	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon32:c.G4433A:p.R1478Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.019796892649	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318813769	6.893e-07	6.84e-07	1.37e-06	0	9.026e-07	0	0	.	.	0	0	0	0	0	0	9.026e-07	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.758	0.03502	T	0.624	0.07342	T	0.001	0.07471	B	0.001	0.04355	B	0.420578	0.12876	N	0.757929	0.999994	0.08975	N	-0.55	0.02420	N	0.92	0.44461	T	0.3	0.04091	N	0.061	0.03283	-0.9873	0.33273	T	0.034	0.14596	T	10	0.037836432	0.02163	T	0.019797	0.42253	T	0.025	0.05312	0.25	0.18757	0.112648838833	0.10856	0.07448366952238444	0.07384	.	.	0.285554051399	0.08279	T	0.059004	0.30997	T	-0.360032	0.04128	T	-0.754937	0.03297	T	0.0149205431515714	0.00318	T	0.685131	0.29365	T	0.028371183	0.02164	0.030504001	0.01515	0.028371183	0.02164	0.030504001	0.01514	-3.123	0.11563	T	.	.	0.068	0.02733	B	.	.	0.178959	0.05669	2.116	0.73543334598543642	0.10366	0.22514	0.21772	N	AEFBCI	0.049468	0.08550	N	-1.60105261247483	0.01259	0.05479057	-1.54819720292841	0.01988	0.09083218	0.359721886896701	0.19765	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.68	-3.81	0.04013	0.275000	0.18461	0.134000	0.15084	-0.892000	0.02379	0.926000	0.32145	0.983000	0.30585	0.023000	0.12082	0.1438:0.5319:0.0:0.3242	7.035	0.24164	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1115.33	36	chr7	1478782	.	C	T	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=727;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.59;ReadPosRankSum=-0.436;SOR=0.746	GT:AD:DP:GQ:PL	0/1:18,42:60:99:1129,0,340	18	0	1	0
chr7	4787700	4787700	G	A	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon10:c.G910A:p.A304T,AP5Z1:NM_014855:exon11:c.G1378A:p.A460T	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	636187	Retinal_dystrophy|Hereditary_spastic_paraplegia_48	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0240474937202	8e-05	.	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs371881628	6.86e-05	7.456e-05	4.234e-05	9.553e-05	0.0008	5.74e-05	5.335e-05	0.0007	0.0006	3.148e-05	2.764e-05	3.967e-05	2.778e-05	2.158e-05	0.0004	1.665e-05	0.0001	0.0008	3.287e-05	3.283e-05	2.571e-05	4.038e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.882e-05	0	0.0002	0.567	0.06243	T	0.066	0.44501	T	0.018	0.17786	B	0.015	0.17295	B	0.012942	0.29001	N	0.349470	0.999934	0.19363	N	2.205	0.62170	M	-0.23	0.66652	T	-1.22	0.30964	N	0.156	0.16168	-0.9060	0.47332	T	0.221	0.58421	T	10	0.018387556	0.00400	T	0.024047	0.47032	T	0.088	0.25558	.	.	0.0138822411134	0.00435	0.30292103195835707	0.30205	.	.	0.332862943411	0.15366	T	0.028976	0.20865	T	-0.516609	0.00460	T	-0.576843	0.14828	T	0.0412508559938513	0.03918	T	0.732927	0.34859	T	0.015107531	0.00122	0.031636685	0.01780	0.015107531	0.00122	0.031636685	0.01780	-5.751	0.44145	T	0.3063594133485708	0.40402	0.074	0.05274	B	.;.	.;.	0.140981	0.05347	1.834	0.92326604523907618	0.21722	0.30012	0.23972	N	AEFDGBCI	0.126013	0.24277	N	-1.17371638257916	0.05400	0.2460866	-1.22933193691014	0.05444	0.2594115	0.014761543703223	0.12635	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	1.87	0.24559	0.113000	0.15333	-0.734000	0.07648	-0.851000	0.02709	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.079:0.1398:0.4928:0.2883	4.01	0.09106	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	971.83	33	chr7	4787700	.	G	A	971.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.275;DP=651;ExcessHet=0.119;FS=10.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=2.26;SOR=0.796	GT:AD:DP:GQ:PL	0/1:23,19:42:99:464,0,600	17	0	2	0
chr7	5313185	5313187	CTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7704_7706del:p.S2577del	.	330	1123	67	0	2	69	0.0289667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0010	0.0032	0	0	0.0071	0.0064	0.0226	3.84e-05	1	26028	rs771326389	0.0008	0.0019	0.0004	0.0012	0.0011	0.0008	0.0007	0.0008	0.0008	9.554e-05	0.0004	0.0002	2.803e-05	0.0003	0.0011	0.0009	0.0007	0.0009	1.319e-05	0.0004	1.29e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.566e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	653.4	35	chr7	5313184	.	GCTA	G	653.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.764;DP=879;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1179;MLEAC=4;MLEAF=0.105;MQ=58.79;MQRankSum=-7.241;QD=2.43;ReadPosRankSum=2.53;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,15:106:99:0|1:5313184_GCTA_G:318,0,3640:5313184	15	0	4	0
chr7	5313191	5313199	CTGCCACTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7692_7700del:p.G2566_S2568del	.	329	1130	62	0	1	63	0.0267011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0124	0.0010	0.0031	0	0	0.0063	0.0065	0.0200	3.84e-05	1	26028	rs770288182	0.0007	0.0015	0.0004	0.0011	0.0008	0.0007	0.0007	0.0008	0.0008	9.519e-05	0.0003	0.0002	2.799e-05	0.0002	0.0002	0.0008	0.0007	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	618.39	35	chr7	5313190	.	GCTGCCACTA	G	618.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.811;DP=885;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.81;MQRankSum=-8.028;QD=2.21;ReadPosRankSum=2.35;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:99:0|1:5313184_GCTA_G:314,0,3682:5313184	15	0	4	0
chr7	6410163	6410163	A	G	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon12:c.T1400C:p.I467T,DAGLB:NM_139179:exon14:c.T1787C:p.I596T	.	423	1093	6	0	0	6	0.00273723	.	.	.	700170	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.476	.	0.0056	0.00279553	0.0083	0.0017	0.0031	0	0.0220	0.0109	0.0126	0.0028	0.0063324	979	154602	rs139753251	0.0082	0.0082	0.0082	0.0081	0.0090	0.0080	0.0080	0.0089	0.0088	0.0012	0.0042	0.0046	2.565e-05	0.0166	0.0018	0.0090	0.0078	0.0020	0.0070	0.0070	0.0071	0.0070	0.0105	0.0067	0.0065	0.0099	0.0096	0.0016	0	0.0056	0.0026	0.0002	0.0156	0	0.0105	0.0071	0.0023	0.001	0.78490	D	0.003	0.76473	D	0.996	0.68779	D	0.905	0.64260	P	0.000119	0.50451	D	0.177195	0.999872	0.81001	D	2.82	0.82106	M	0.22	0.59851	T	-4.0	0.78388	D	0.863	0.87157	-0.1922	0.77873	T	0.335	0.70231	T	10	0.011635125	0.00253	T	.	.	.	0.476	0.76816	.	.	0.79656958128	0.79467	0.898214125429281	0.89792	0.245692011296	0.27094	0.663747370243	0.61944	T	0.434721	0.78171	T	-0.147411	0.28719	T	0.0284516	0.72176	D	0.0176097797541296	0.00494	T	0.909009	0.67793	D	0.4210317	0.62160	0.62813973	0.78315	0.4210317	0.62161	0.62813973	0.78316	-10.963	0.79861	D	.	.	0.88	0.82514	P	.;.;.	.;.;.	4.506991	0.70541	25.5	0.99798917298060397	0.88372	0.90149	0.51101	D	AEFDGBCI	0.493900	0.52992	N	0.64336317586796	0.75940	6.395606	0.648535370185396	0.78503	6.889119	0.999999999979296	0.74766	0.78354	0.99714	0	0.577304	0.33150	0	0.827368	0.99476	0	0.636168	0.56350	0	.	.	5.94	5.94	0.96165	7.111000	0.76717	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	1.0:0.0:0.0:0.0	16.407	0.83529	824	0.40336	.;.;.	.	.	.	.	rs139753251	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001517	0.010204	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	1516.33	44	chr7	6410163	.	A	G	1516.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.048;DP=798;ExcessHet=0;FS=3.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.585;SOR=0.679	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1530,0,1243	18	0	1	0
chr7	6763947	6763947	T	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon6:c.T419A:p.V140D,RSPH10B:NM_173565:exon6:c.T419A:p.V140D	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0148804231871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331379936	1.379e-06	2.057e-06	1.372e-06	1.386e-06	1.814e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.814e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.10311	T	0.054	0.47097	T	0.695	0.41722	P	0.223	0.37929	B	0.342443	0.13941	N	0.666605	1	0.81001	D	1.255	0.31814	L	0.51	0.55439	T	-2.28	0.50830	N	0.314	0.38950	-0.9842	0.34022	T	0.128	0.43585	T	10	0.22885117	0.39799	T	0.01488	0.35280	T	0.128	0.35103	0.614	0.74768	0.490074841992	0.48640	0.4847905534449303	0.48399	.	.	0.541220664978	0.44618	T	0.012946	0.11287	T	-0.135321	0.30639	T	-0.432155	0.29690	T	0.207142606377602	0.20803	T	0.466753	0.13720	T	0.15721653	0.35438	0.21708432	0.46360	0.15721653	0.35437	0.21708432	0.46359	-11.005	0.79686	D	.	.	0.576	0.67865	P	.;.;.	.;.;.	1.969401	0.25016	16.61	0.91372449066111516	0.20637	0.32347	0.24563	N	AEFGI	0.297208	0.40685	N	-0.330221732508259	0.28004	1.541142	-0.411638638418449	0.24655	1.351368	0.0284723936198051	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.61	3.61	0.40494	3.220000	0.50909	.	.	-0.662000	0.04349	0.169000	0.23921	0.001000	0.17328	0.130000	0.19568	0.0:0.0:0.0:1.0	10.367	0.43213	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	.	.	.	.	.	.	.	.	0.05263	2276.83	34	chr7	6763947	.	T	A	2276.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.495;DP=1079;ExcessHet=0.119;FS=1.245;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=35.97;MQRankSum=0.284;QD=4.85;ReadPosRankSum=2.28;SOR=0.642	GT:AD:DP:GQ:PL	0/1:111,69:180:99:1414,0,2568	17	0	2	0
chr7	12367495	12367495	T	G	splicing	VWDE	NM_001135924:exon13:c.2762-2A>C;NM_001346973:exon11:c.1952-2A>C;NM_001346972:exon11:c.2417-2A>C	.	.	.	464	1056	2	0	0	2	0.000946074	0.9999	0.84	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0015	0	0	0	0	0	0	0.0040	0.0002135	33	154602	rs565218786	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0032	0.0031	7.11e-05	4.213e-05	0	0	0	0.0006	8.533e-06	0.0004	0.0036	0.0002	0.0002	7.715e-05	0.0002	0.0039	0.0001	8.723e-05	0.0026	0.0021	0	0	0	0	0	0	0	5.889e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.403936	0.02181	T	-0.353841	0.38765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.727017	0.76090	26.4	0.74720909660307411	0.10802	0.91112	0.52884	D	AEFBI	.	.	.	0.478678511546545	0.65846	4.874166	0.152462455703665	0.47272	2.959976	0.0930989537064585	0.16174	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.73089	0.43805	3.71	2.51	0.29435	3.583000	0.53673	4.120000	0.41968	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.231000	0.22761	0.1554:0.0:0.0:0.8446	9.663	0.39129	833	0.38804	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	680.33	43	chr7	12367495	.	T	G	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.494;DP=749;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.45;SOR=1.329	GT:AD:DP:GQ:PL	0/1:31,24:55:99:694,0,797	18	0	1	0
chr7	19708955	19708955	C	T	exonic	POLR1F	.	nonsynonymous SNV	POLR1F:NM_001002926:exon1:c.G62A:p.G21E	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0189225416184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1478587636	3.425e-06	3.42e-06	2.726e-06	4.131e-06	2.988e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.988e-05	2.236e-05	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.032	0.53426	D	0.995	0.67487	D	0.795	0.57940	P	0.130962	0.18639	N	0.495656	1	0.08975	N	2.3	0.65703	M	.	.	.	-0.67	0.19297	N	0.26	0.29429	-1.0487	0.14761	T	0.077	0.30828	T	9	0.1816032	0.33399	T	0.018923	0.41136	T	0.096	0.27654	0.409	0.44395	0.427368086475	0.42351	0.37704136650746156	0.37619	0.560863490715	0.52604	0.650803565979	0.60099	T	0.030444	0.21578	T	-0.173059	0.24774	T	-0.403498	0.32978	T	0.48279470205307	0.32000	T	0.552145	0.19060	T	0.04633614	0.07737	0.10128874	0.24245	0.04633614	0.07737	0.10128874	0.24244	-3.874	0.21913	T	.	.	0.116	0.23360	B	.	.	2.261791	0.28903	17.95	0.98574559992128763	0.43154	0.07753	0.13753	N	ALL	0.052203	0.09295	N	-0.531011995072891	0.21083	1.116281	-0.702932356322393	0.16887	0.8954774	0.999999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.67	1.6	0.22686	-0.111000	0.10778	-0.056000	0.12484	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.1552:0.5398:0.305:0.0	8.226	0.30728	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1453.33	37	chr7	19708955	.	C	T	1453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=730;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.098;SOR=0.531	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1467,0,1451	18	0	1	0
chr7	21789251	21789251	A	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon61:c.A9935T:p.D3312V	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	174072	Primary_ciliary_dyskinesia_7|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.538	.	0.0028	0.00259585	0.0056	0.0007	0.0249	0	0.0126	0.0068	0.0141	0.0026	0.002542	393	154602	rs72657389	0.0033	0.0033	0.0033	0.0033	0.0040	0.0032	0.0032	0.0035	0.0033	0.0005	0.0040	0.0004	0	0.0082	0.0038	0.0034	0.0032	0.0026	0.0031	0.0031	0.0028	0.0034	0.0041	0.0029	0.0028	0.0037	0.0036	0.0007	0	0.0037	0	0	0.0083	0.0068	0.0041	0.0038	0.0021	0.286	0.15201	T	.	.	.	.	.	.	.	.	.	0.000030	0.55875	D	0.187557	1	0.81001	D	.	.	.	-1.49	0.81235	T	-7.36	0.94647	D	0.526	0.57092	-0.2683	0.75857	T	0.430	0.77206	T	9	0.0102032125	0.00228	T	.	.	.	0.538	0.80664	.	.	0.799945450273	0.79807	0.48658905054583834	0.48578	.	.	0.455615311861	0.32711	T	0.501034	0.82140	D	-0.231305	0.16476	T	-0.105311	0.62983	T	0.0820514539010045	0.10248	T	0.949755	0.80719	D	0.5751885	0.71345	0.59625596	0.76557	0.6391338	0.74786	0.59921443	0.76721	-8.376	0.63605	D	0.3817097476684083	0.47606	0.1	0.17146	B	.;.;.	.;.;.	3.680988	0.52392	23.2	0.9458051893176187	0.25122	0.99249	0.93429	D	AEFBI	0.908300	0.86343	D	0.567287641523483	0.71141	5.605981	0.647639627601258	0.78435	6.875711	0.999974926614925	0.50053	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	8.697000	0.91034	8.003000	0.76158	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.496	0.84087	757	0.50970	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.004076	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	866.33	36	chr7	21789251	.	A	T	866.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.912;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.292;SOR=0.602	GT:AD:DP:GQ:PL	0/1:42,35:77:99:880,0,1018	18	0	1	0
chr7	37096657	37096657	G	A	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001206480:exon15:c.C1262T:p.T421I,ELMO1:NM_001206482:exon15:c.C1262T:p.T421I,ELMO1:NM_014800:exon15:c.C1262T:p.T421I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	0.0500175576138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.995	0.67487	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	0.35	0.58029	T	-3.07	0.63207	D	0.966	0.97643	-0.2523	0.76297	T	0.363	0.72407	T	10	0.95647556	0.95013	D	0.050018	0.64061	D	0.594	0.83857	0.858	0.95662	0.861314050654	0.85997	0.879973935838492	0.87965	1.91311269366	0.92925	0.924149334431	0.98622	D	0.552149	0.84855	D	0.32092	0.84538	D	0.223203	0.84336	D	0.974983751773834	0.70738	D	0.987726	0.95813	D	0.76238734	0.81594	0.5543455	0.74226	0.76238734	0.81596	0.5543455	0.74226	-7.747	0.59334	D	.	.	0.973	0.89905	P	.;.;.	.;.;.	5.330489	0.89453	30	0.99918740689281882	0.98586	0.95997	0.67068	D	AEFGBHCI	0.874031	0.79670	D	0.87587735203708	0.90527	10.44525	0.836904163290546	0.92227	11.30715	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	4.96	4.96	0.65153	10.003000	0.99689	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.614	0.91252	853	0.34956	ELMO domain|ELMO domain;ELMO domain|ELMO domain;ELMO domain|ELMO domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1362.33	35	chr7	37096657	.	G	A	1362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.395;DP=751;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.395;SOR=0.768	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1376,0,1622	18	0	1	0
chr7	40459197	40459197	C	T	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon10:c.C841T:p.R281W,SUGCT:NM_001193311:exon11:c.C985T:p.R329W,SUGCT:NM_001193313:exon11:c.C985T:p.R329W,SUGCT:NM_024728:exon11:c.C874T:p.R292W	Glutaric aciduria III, Autosomal recessive	.	.	.	.	.	.	.	0.0003	0.032	YES	16888	not_provided|Glutaryl-CoA_oxidase_deficiency|SUGCT-related_disorder	MedGen:C3661900|MONDO:MONDO:0009283,MedGen:C0342873,OMIM:231690,Orphanet:35706|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.588	0.128627862391	0.0055	0.000599042	0.0056	0.0016	0.0003	0.0001	0.0041	0.0093	0.0035	0.0006	0.005388	833	154602	rs137852860	0.0057	0.0060	0.0058	0.0056	0.0068	0.0056	0.0056	0.0067	0.0067	0.0011	0.0004	0.0013	0.0002	0.0060	0.0005	0.0068	0.0049	0.0005	0.0046	0.0046	0.0048	0.0044	0.0075	0.0043	0.0042	0.0070	0.0067	0.0015	0.0559	0.0005	0.0009	0	0.0060	0	0.0075	0.0019	0.0002	0.013	0.53900	D	0.022	0.58613	D	1.0	0.90584	D	0.937	0.67262	D	0.000000	0.84330	D	0.000000	0.150671	0.28519	A	2.29	0.65257	M	-1.05	0.76690	T	-3.57	0.72240	D	0.675	0.69474	-0.1555	0.78781	T	0.402	0.75317	T	9	0.057564437	0.06632	T	0.128628	0.81058	D	0.588	0.83526	.	.	0.635881898256	0.63289	0.6653704313250492	0.66474	.	.	.	.	.	0.163129	0.50806	T	-0.111548	0.34512	T	0.0812723	0.75664	D	0.0313816112250323	0.02207	T	0.929907	0.75597	D	0.73196846	0.79834	0.60874367	0.77246	0.781963	0.82776	0.6628725	0.80241	-12.377	0.87223	D	.	.	0.261	0.65968	B	.;.;.	.;.;.	3.618693	0.51202	23.1	0.99831769539613868	0.91370	0.57044	0.30273	D	AEFGBI	0.480887	0.52241	N	0.00680388542339002	0.42164	2.535376	-0.0902777117131462	0.35790	2.074906	0.992051895063501	0.32703	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.33	2.46	0.29032	0.756000	0.26084	-0.792000	0.07410	-0.180000	0.10397	0.677000	0.28411	0.003000	0.18671	0.767000	0.36405	0.313:0.6033:0.0:0.0837	6.68	0.22304	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	768.33	37	chr7	40459197	.	C	T	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.26;DP=728;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-0.317;SOR=0.793	GT:AD:DP:GQ:PL	0/1:61,36:97:99:782,0,1422	18	0	1	0
chr7	42937503	42937503	C	T	exonic	MRPL32	.	nonsynonymous SNV	MRPL32:NM_031903:exon3:c.C494T:p.P165L	.	430	1084	7	1	0	9	0.00413413	.	.	.	2197957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0198994314707	.	0.000399361	0.0002	0	8.7e-05	0	0	6.002e-05	0	0.0014	0.000194	30	154602	rs549081927	0.0001	0.0001	7.759e-05	0.0002	0.0019	0.0001	0.0001	0.0011	0.0010	5.974e-05	4.473e-05	0	0	0	0.0019	3.327e-05	0.0002	0.0013	8.542e-05	8.532e-05	0.0001	6.721e-05	0.0010	4.957e-05	3.963e-05	0.0004	0.0003	9.637e-05	0	0	0	0	0	0	5.88e-05	0	0.0010	0.004	0.65419	D	0.129	0.34837	T	0.874	0.48047	P	0.075	0.28327	B	0.000131	0.49741	N	0.243352	1	0.81001	D	2.915	0.84231	M	.	.	.	-4.82	0.80851	D	0.461	0.49783	-0.7249	0.59220	T	0.171	0.51277	T	9	0.042028457	0.02912	T	0.019899	0.42377	T	0.247	0.55478	.	.	0.406257615169	0.40241	0.6200606983131832	0.61939	0.0609977480483	0.06789	0.432169377804	0.29504	T	0.093305	0.39184	T	-0.224276	0.17414	T	-0.130312	0.60945	T	0.322109431028366	0.25907	T	0.821518	0.48098	T	0.22549747	0.45211	0.15345405	0.36059	0.22549747	0.45211	0.15345405	0.36059	-3.638	0.18408	T	.	.	0.089	0.12132	B	.	.	2.882995	0.38162	20.7	0.97616127666400443	0.34938	0.98325	0.81646	D	AEFGBI	0.921589	0.89531	D	0.122077126740152	0.47495	2.97436	0.0796240075223911	0.43524	2.652482	0.99999999997872	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.03	0.67015	7.251000	0.77723	2.211000	0.31368	0.596000	0.33519	0.997000	0.40164	0.924000	0.28388	0.005000	0.06747	0.0:0.9327:0.0:0.0673	15.183	0.72656	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1577.33	41	chr7	42937503	.	C	T	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=983;ExcessHet=0;FS=3.493;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.446;SOR=0.434	GT:AD:DP:GQ:PL	0/1:71,60:131:99:1591,0,1652	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:70,25:102:31:31,0,1334	10	0	9	0
chr7	45574854	45574854	C	T	exonic	ADCY1	.	nonsynonymous SNV	ADCY1:NM_021116:exon1:c.C311T:p.A104V	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.635189749398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173497805	2.741e-06	2.736e-06	0	5.51e-06	1.16e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	0	4.973e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	0.04848	T	1.0	0.01155	T	0.716	0.42206	P	0.039	0.23607	B	0.002202	0.37012	N	0.233888	0.737514	0.81001	D	1.1	0.28011	L	-1.35	0.80035	T	-0.48	0.15379	N	0.28	0.31702	-0.7448	0.58206	T	0.177	0.52162	T	10	0.34439474	0.51433	T	0.63519	0.96877	D	0.259	0.57090	0.585	0.71245	0.68486654714	0.68217	0.4780964398212817	0.47729	1.26099718481	0.82023	0.863195598125	0.91581	D	0.233071	0.59979	T	-0.119685	0.33176	T	-0.309065	0.43760	T	0.445221066474915	0.30621	T	0.920408	0.71216	D	0.07406737	0.16596	0.06533969	0.13229	0.07406737	0.16596	0.06533969	0.13229	-4.657	0.32879	T	.	.	0.109	0.20741	B	.	.	3.738726	0.53519	23.4	0.92761079827712212	0.22271	0.81499	0.40890	D	AEFDGBHCI	0.254843	0.37408	N	-0.41129060541089	0.25072	1.358378	-0.347880947018185	0.26574	1.468764	0.999999999894453	0.74766	0.685219	0.55550	0	0.609123	0.50646	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.48	2.59	0.30091	3.534000	0.53324	4.317000	0.42986	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8776:0.0:0.1224	8.220	0.30696	929	0.16858	Adenylate cyclase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2982.77	33	chr7	45574854	.	C	T	2982.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.35;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.93;ReadPosRankSum=-0.927;SOR=0.637	GT:AD:DP:GQ:PL	0/1:35,26:61:99:707,0,828	17	1	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,46:106:99:.:.:419,0,899:.	4	0	15	0
chr7	47843041	47843041	T	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon34:c.A5366G:p.E1789G	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	424	1092	5	1	0	7	0.00319489	.	.	.	3216908	PKD1L1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00350799226516	7.7e-05	.	2.475e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs368140318	6.431e-05	6.43e-05	6.126e-05	6.738e-05	0.0045	5.362e-05	4.976e-05	0.0032	0.0027	8.963e-05	0	0	0	9.36e-05	0.0045	4.137e-05	0.0001	6.957e-05	2.629e-05	2.627e-05	1.285e-05	4.038e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.136	0.26085	T	0.022	0.57587	D	0.126	0.26920	B	0.023	0.19966	B	0.511845	0.11836	N	0.755716	0.999972	0.18612	N	1.795	0.47270	L	2.18	0.18875	T	-3.74	0.71042	D	0.181	0.19593	-1.0193	0.23943	T	0.026	0.11264	T	10	0.093857825	0.16644	T	0.003508	0.07969	T	0.045	0.12272	.	.	0.679604333237	0.67688	0.54218332259973	0.54143	0.122578150867	0.13811	0.351744562387	0.18179	T	0.283162	0.65592	T	-0.391982	0.02612	T	-0.598177	0.12964	T	0.0442588396963682	0.04468	T	0.409559	0.10569	T	0.12889436	0.30121	0.18497162	0.41582	0.12889436	0.30121	0.18497162	0.41581	-4.278	0.27867	T	0.3037297570323424	0.40126	0.080	0.07745	B	.	.	0.284929	0.06614	3.110	0.99724963026634961	0.82336	0.01907	0.05839	N	AEFDBI	0.049745	0.08626	N	-0.998951837478029	0.08626	0.4051936	-1.04057781757873	0.08904	0.4401638	0.794452689743788	0.24073	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.4	-1.33	0.08693	-0.203000	0.09440	-0.001000	0.13204	0.665000	0.62972	0.008000	0.17931	0.004000	0.18990	0.068000	0.16518	0.0:0.3128:0.1341:0.5531	5.760	0.17461	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005595	0.000000	0.006812	0.008824	0.000000	0.017241	0.003125	0.000000	0.07895	2319.77	35	chr7	47843041	.	T	C	2319.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.964;DP=682;ExcessHet=0;FS=1.667;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=-0.81;SOR=0.49	GT:AD:DP:GQ:PL	0/1:35,25:60:99:663,0,976	17	1	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,25:84:99:.:.:151,0,1251:.	6	0	12	1
chr7	67279892	67279894	GAG	-	exonic	SPDYE21	.	nonframeshift deletion	SPDYE21:NM_001382715:exon2:c.235_237del:p.E81del	.	445	1072	4	1	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0028431	74	26028	rs555977902	0.0077	0.0076	0.0077	0.0078	0.0079	0.0076	0.0076	0.0078	0.0077	0.0010	0.0048	0.0547	0	0.0006	0.0038	0.0079	0.0084	0.0015	0.0059	0.0058	0.0060	0.0057	0.0076	0.0055	0.0054	0.0070	0.0068	0.0014	0	0.0072	0.0505	0.0002	9.502e-05	0.0068	0.0076	0.0087	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5856.39	36	chr7	67279891	.	TGAG	T	5856.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.472;DP=834;ExcessHet=0.7564;FS=5.489;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=49.99;MQRankSum=4.01;QD=20.77;ReadPosRankSum=-0.628;SOR=0.796	GT:AD:DP:GQ:PL	0/1:12,29:41:99:1147,0,417	15	0	4	0
chr7	77053168	77053168	T	G	exonic	SPDYE18	.	nonsynonymous SNV	SPDYE18:NM_001351348:exon5:c.A560C:p.D187A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314600040	3.832e-05	3.967e-05	3.54e-05	4.126e-05	8.117e-05	3.026e-05	2.72e-05	3.766e-05	2.671e-05	2.988e-05	0	0	0	0	0	3.957e-05	6.629e-05	8.117e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1517.33	70	chr7	77053168	.	T	G	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.464;DP=1089;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.55;MQRankSum=-4.187;QD=9.25;ReadPosRankSum=1.41;SOR=0.748	GT:AD:DP:GQ:PL	0/1:98,66:164:99:1531,0,2669	18	0	1	0
chr7	83155272	83155272	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon2:c.G1369A:p.G457R,PCLO:NM_033026:exon2:c.G1369A:p.G457R	.	428	1073	19	2	0	23	0.010604	.	.	.	700246	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.042	.	0.0023	0.00239617	0.0041	0.0003	0.0029	0	0.0003	0.0041	0.0022	0.0107	0.0038357	593	154602	rs144574814	0.0046	0.0046	0.0044	0.0048	0.0160	0.0045	0.0044	0.0133	0.0124	0.0006	0.0024	0.0185	0	0.0003	0.0160	0.0042	0.0056	0.0113	0.0031	0.0031	0.0030	0.0032	0.0139	0.0029	0.0028	0.0112	0.0103	0.0009	0	0.0019	0.0196	0	0.0002	0.0170	0.0038	0.0057	0.0139	0.433	0.09458	T	0.025	0.56192	D	0.157	0.28234	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15964	T	-1.08	0.28084	N	0.211	0.23506	-1.0117	0.26385	T	0.026	0.10998	T	9	0.0049199164	0.00105	T	.	.	.	0.042	0.11227	0.31	0.28289	0.0675242888579	0.06100	0.0882736804711831	0.08760	0.265799251449	0.29129	0.24127009511	0.02906	T	.	.	.	-0.691899	0.00041	T	-0.75868	0.03160	T	0.00888627188882829	0.00110	T	0.645335	0.25688	T	0.03834431	0.05089	0.057530824	0.10473	0.038431603	0.05118	0.06815152	0.14193	-8.652	0.65431	D	.	.	0.236	0.46927	B	.;.	.;.	1.252155	0.16489	12.57	0.89555626376048347	0.18898	0.11480	0.16662	N	AEFI	0.115531	0.22712	N	-0.914395105151028	0.10505	0.5023057	-0.99146945926259	0.09976	0.4995761	9.88023819527639E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.77	-0.0247	0.13263	0.751000	0.26013	-2.306000	0.03922	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.5446:0.0:0.4554	7.943	0.29131	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	1	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.017544	0.050000	0.008621	0.006098	0.011364	0.02632	971.33	42	chr7	83155272	.	C	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=1020;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.604;SOR=0.861	GT:AD:DP:GQ:PL	0/1:35,36:71:99:985,0,934	18	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,29:171:99:0|1:93102964_C_G:134,0,5401:93102964	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,29:171:99:0|1:93102964_C_G:134,0,5401:93102964	5	0	14	0
chr7	99929024	99929024	G	T	exonic	GJC3	.	nonsynonymous SNV	GJC3:NM_181538:exon1:c.C597A:p.S199R	.	420	1078	22	2	0	26	0.0119157	.	.	.	3207079	GJC3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.649	0.0338940112518	0.0004	0.00199681	0.0015	9.619e-05	0.0008	0	0	0.0007	0.0066	0.0073	0.0013454	208	154602	rs143828671	0.0008	0.0008	0.0006	0.0011	0.0074	0.0008	0.0008	0.0069	0.0067	0.0002	0.0007	3.826e-05	2.519e-05	1.873e-05	0.0052	0.0004	0.0013	0.0074	0.0008	0.0008	0.0006	0.0010	0.0077	0.0007	0.0006	0.0057	0.0050	9.628e-05	0	0.0026	0.0003	0	0	0.0034	0.0005	0.0024	0.0077	0.001	0.78490	D	0.004	0.74150	D	0.968	0.56581	D	0.811	0.58656	P	0.024538	0.26246	N	0.268702	0.759938	0.29550	N	3.4	0.91674	M	-4.13	0.96745	D	-4.11	0.74980	D	0.592	0.61172	0.679	0.92917	D	0.864	0.95458	D	10	0.01462695	0.00307	T	0.033894	0.55304	D	0.649	0.86736	0.75	0.88071	0.7585010053	0.75631	0.8756277835908375	0.87529	0.874496061904	0.69519	0.390606582165	0.23755	T	0.924153	0.98665	D	-0.0710802	0.41155	T	0.128429	0.78790	D	0.130437042998939	0.15423	T	0.813219	0.46599	T	0.87278634	0.89083	0.6011226	0.76826	0.87278634	0.89084	0.6011226	0.76827	-11.539	0.82533	D	.	.	0.91	0.83446	P	.	.	2.021574	0.25690	16.85	0.99572991201438088	0.72501	0.32091	0.24500	N	AEFDBCI	0.261174	0.37918	N	-0.297696488118648	0.29236	1.619588	-0.561055968315654	0.20513	1.105496	0.999931904597529	0.46732	0.65757	0.49021	0	0.596491	0.49125	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.54	-4.02	0.03764	0.016000	0.13272	-1.749000	0.04797	-0.063000	0.16611	0.002000	0.15269	0.000000	0.08366	0.319000	0.24947	0.4509:0.136:0.4131:0.0	6.696	0.22386	173	0.93306	Connexin, N-terminal|Gap junction protein, cysteine-rich 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	0.004532	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.007576	0.02632	1083.33	39	chr7	99929024	.	G	T	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=729;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=2.09;SOR=0.795	GT:AD:DP:GQ:PL	0/1:66,42:108:99:1097,0,1701	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,46:88:99:0|1:100175805_G_C:1180,0,1370:100175805	1	0	18	0
chr7	100416308	100416308	C	G	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon7:c.G628C:p.A210P,ZCWPW1:NM_017984:exon7:c.G628C:p.A210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0139127086188	.	.	1.656e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs768069661	7.53e-06	8.688e-05	6.812e-06	8.256e-06	9.899e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.899e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.017	0.64786	D	0.981	0.68779	D	0.77	0.65999	P	0.126267	0.02769	N	1.915940	1	0.08975	N	2.295	0.65404	M	0.44	0.57575	T	-1.52	0.51157	N	0.105	0.18649	-0.9651	0.38191	T	0.211	0.57134	T	9	0.07359043	0.11990	T	0.013913	0.33663	T	0.160	0.41473	0.167	0.07186	0.0846915920261	0.08053	0.2553416396724554	0.25448	0.235566991127	0.26085	0.326068282127	0.14340	T	0.032045	0.22312	T	-0.244567	0.14771	T	-0.363378	0.37660	T	0.256688277327145	0.23170	T	0.49905	0.36376	T	0.28358757	0.51390	0.2510205	0.50705	0.28358757	0.51390	0.2510205	0.50704	-4.084	0.25054	T	.	.	0.131	0.29004	B	.;.;.	.;.;.	2.654947	0.34573	19.67	0.99736852657666464	0.83192	0.04517	0.10144	N	AEFDI	0.143022	0.26562	N	-0.221500259265149	0.32253	1.816927	-0.35189881764483	0.26449	1.461059	0.00411306419695172	0.10422	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.27	2.0	0.25495	-0.453000	0.06853	-0.115000	0.11785	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.958000	0.51230	0.2112:0.5376:0.0:0.2512	3.297	0.06560	453	0.79178	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.39	63	chr7	100416308	.	C	G	40.39	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.572;DP=1385;ExcessHet=0.3672;FS=206.453;InbreedingCoeff=-0.1037;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.813;SOR=10.876	GT:AD:DP:GQ:PL	0/1:50,18:68:2:2,0,1033	15	0	3	1
chr7	100419851	100419851	G	A	exonic	ZCWPW1	.	nonsynonymous SNV	ZCWPW1:NM_001258008:exon4:c.C61T:p.P21S,ZCWPW1:NM_017984:exon4:c.C61T:p.P21S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	.	0.0030	0.00319489	0.0009	0.0100	8.657e-05	0	0	0	0	0.0008	0.0008279	128	154602	rs191203557	0.0003	0.0003	0.0003	0.0002	0.0100	0.0003	0.0002	0.0091	0.0087	0.0100	0.0002	0	0	0	0.0002	2.72e-06	0.0005	0.0005	0.0028	0.0028	0.0028	0.0028	0.0100	0.0026	0.0025	0.0092	0.0089	0.0100	0	0.0002	0	0	0	0	2.94e-05	0.0019	0.0006	0.085	0.33923	T	0.0	0.92824	D	0.921	0.51088	P	0.352	0.42883	B	0.000042	0.53742	D	0.000000	1	0.81001	D	1.765	0.45800	L	0.53	0.55439	T	-2.17	0.49018	N	0.241	0.27197	-0.7868	0.55915	T	0.187	0.53707	T	9	0.0075009167	0.00171	T	.	.	.	0.153	0.40148	.	.	0.208000267992	0.20380	0.2163298000806597	0.21548	0.439204412305	0.43942	0.291314482689	0.09113	T	0.022413	0.17282	T	-0.372053	0.03492	T	-0.300382	0.44685	T	0.0566461492171399	0.06629	T	0.716728	0.32905	T	0.09463204	0.22252	0.13422118	0.32168	0.09463204	0.22252	0.13422118	0.32167	-2.666	0.07022	T	.	.	0.23	0.57066	B	.;.	.;.	2.872072	0.37979	20.6	0.99600152658781738	0.74160	0.47617	0.28023	N	AEFBHCI	.	.	.	0.291724145357606	0.55727	3.736961	0.316250798876188	0.56495	3.812824	0.999732486589979	0.42341	0.538715	0.22204	0	0.633563	0.54681	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.94	4.06	0.46572	2.005000	0.40484	7.503000	0.59513	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.929000	0.46594	0.1016:0.0:0.8984:0.0	8.510	0.32372	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1300.33	38	chr7	100419851	.	G	A	1300.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.118;DP=748;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.621;SOR=0.449	GT:AD:DP:GQ:PL	0/1:33,47:80:99:1314,0,974	18	0	1	0
chr7	100487008	100487008	C	T	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon3:c.C256T:p.H86Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.137495214072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	6.84e-07	0	1.38e-06	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.92824	D	0.99	0.63424	D	0.871	0.61869	P	0.000055	0.53742	D	0.000000	0.99999	0.58761	D	2.62	0.76659	M	0.53	0.55090	T	-5.19	0.84105	D	0.717	0.74280	-0.5481	0.66858	T	0.266	0.63738	T	10	0.6727496	0.70810	D	0.137495	0.81998	D	0.367	0.68670	0.432	0.48171	0.403974779092	0.40011	0.8165938100907696	0.81615	0.56137818192	0.52642	0.867431998253	0.92199	D	0.39501	0.75401	T	0.29108	0.82243	D	0.18034	0.82015	D	0.9932461977005	0.83967	D	0.89941	0.68490	D	0.7715931	0.82144	0.71664244	0.83274	0.7715931	0.82145	0.71664244	0.83275	-10.544	0.77100	D	.	.	0.887	0.85955	P	.;.	.;.	4.674266	0.74729	26.2	0.99770685555418881	0.85834	0.74340	0.36366	D	AEFDBI	0.383691	0.46510	N	0.649362635320583	0.76329	6.466096	0.636984557628187	0.77643	6.719378	0.999999991798786	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	5.55	4.67	0.58089	5.173000	0.64844	7.533000	0.59948	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.913:0.0:0.087	11.433	0.49293	362	0.84826	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	899.33	33	chr7	100487008	.	C	T	899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.922;SOR=0.631	GT:AD:DP:GQ:PL	0/1:31,32:63:99:913,0,839	18	0	1	0
chr7	100489034	100489034	C	T	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon4:c.C1313T:p.A438V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136611118993	.	.	0.0002	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs771263014	3.375e-05	4.173e-05	2.131e-05	4.646e-05	0.0005	2.6e-05	2.331e-05	0.0004	0.0003	0	0	0	2.747e-05	0	0	4.621e-06	5.175e-05	0.0005	1.972e-05	1.97e-05	0	4.037e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.404	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.149723	0.18008	N	0.408893	0.998812	0.21886	N	0.345	0.11182	N	1.53	0.30937	T	-0.16	0.09627	N	0.108	0.10769	-1.0008	0.29688	T	0.034	0.14596	T	10	0.012857795	0.00275	T	0.013661	0.33231	T	0.033	0.08068	0.21	0.12781	0.043077524339	0.03247	0.24035598619844892	0.23949	0.182126464766	0.20479	0.396817594767	0.24626	T	0.02557	0.19092	T	-0.567295	0.00230	T	-0.700938	0.05775	T	0.0197515813645471	0.00677	T	0.542646	0.18460	T	0.02276013	0.00962	0.034612782	0.02560	0.02276013	0.00961	0.034612782	0.02560	-4.804	0.34638	T	.	.	0.060	0.00904	B	.;.	.;.	-1.113188	0.00625	0.017	0.86436483683019782	0.16535	0.13871	0.18098	N	AEFDGBCI	0.057922	0.10829	N	-1.07034389626619	0.07195	0.3334811	-0.973560269981724	0.10382	0.5224916	0.999889519965015	0.44867	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	-0.128	0.12847	-1.521000	0.02343	-4.035000	0.02380	-0.300000	0.06199	0.000000	0.06391	0.000000	0.08366	0.303000	0.24570	0.0:0.5308:0.0:0.4692	7.752	0.28070	365	0.84644	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003876	0.02632	1210.33	39	chr7	100489034	.	C	T	1210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=841;ExcessHet=0;FS=5.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.7;SOR=1.242	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1224,0,1146	18	0	1	0
chr7	100751208	100751208	C	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon13:c.C1548G:p.S516R,ZAN:NM_173059:exon13:c.C1548G:p.S516R	.	430	1010	80	2	0	84	0.039924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0013	0.00459265	0.0058	0.0005	0.0020	0	0.0004	0.0027	0.0268	0.0286	0.0043078	666	154602	rs201142260	0.0026	0.0027	0.0018	0.0035	0.0262	0.0026	0.0025	0.0253	0.0249	0.0004	0.0011	0.0036	5.046e-05	0.0004	0.0192	0.0010	0.0036	0.0262	0.0021	0.0021	0.0014	0.0028	0.0270	0.0019	0.0018	0.0232	0.0218	0.0002	0	0.0017	0.0040	0	0.0007	0.0274	0.0016	0.0038	0.0270	.	.	.	0.008	0.67890	D	0.005	0.12996	B	0.008	0.13708	B	0.384634	0.04441	N	1.496520	1	0.08975	N	1.8	0.47472	L	4.45	0.02121	T	-2.3	0.51157	N	0.184	0.23125	-0.9240	0.44999	T	0.009	0.03448	T	10	0.00474146	0.00100	T	.	.	.	0.040	0.10527	0.594	0.72371	0.124217242631	0.12060	0.2111362059142021	0.21029	0.206476620277	0.23073	0.291453421116	0.09133	T	0.015962	0.13288	T	-0.437129	0.01344	T	-0.381758	0.35516	T	0.00894263022229421	0.00111	T	0.441056	0.12198	T	0.052750442	0.09883	0.06545608	0.13270	0.052750442	0.09883	0.06545608	0.13270	-3.859	0.21689	T	.	.	0.124	0.26138	B	.;.;.;.	.;.;.;.	0.704592	0.10733	7.424	0.98809529819632336	0.46590	0.06952	0.12979	N	AEFBI	0.069409	0.13736	N	-0.963840597858447	0.09384	0.4439173	-1.04830437396366	0.08743	0.4313272	1.4977826586808E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	3.13	1.3	0.20778	0.784000	0.26477	0.778000	0.21455	-0.182000	0.10109	0.001000	0.13787	0.248000	0.23899	0.004000	0.06068	0.2358:0.6362:0.0:0.128	3.906	0.08682	702	0.57624	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM 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	0.015121	0.005051	0.005435	0.017544	0.000000	0.008621	0.015337	0.049242	0.07895	2389.79	34	chr7	100751208	.	C	G	2389.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.847;DP=777;ExcessHet=0.3672;FS=1.633;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.637;SOR=0.576	GT:AD:DP:GQ:PL	0/1:36,36:72:99:840,0,947	16	0	3	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,58:127:99:0|1:100773849_CCAT_C:2207,0,2673:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	0/1:71,39:110:99:1419,0,2855	2	9	8	0
chr7	100792513	100792513	-	CTGG	exonic	ZAN	.	frameshift insertion	ZAN:NM_173059:exon42:c.7821_7822insCTGG:p.R2612Lfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001294	20	154602	rs772686508	4.313e-05	4.309e-05	1.907e-05	6.744e-05	0.0006	3.445e-05	3.131e-05	0.0005	0.0005	2.988e-05	0	0	0	0	0	8.997e-07	9.947e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1443.29	44	chr7	100792513	.	C	CCTGG	1443.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.095;DP=774;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.92;ReadPosRankSum=1.26;SOR=1.094	GT:AD:DP:GQ:PL	0/1:32,37:69:99:1457,0,1212	18	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:392,139:655:99:0|1:100952942_T_G:4657,0,16042:100952942	5	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:355,123:538:99:0|1:100953098_G_C:4096,0,14536:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:348,117:521:99:.:.:3865,0,14260:.	2	0	17	0
chr7	100954855	100954855	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3076G:p.T1026A	.	807	709	4	2	0	8	0.0056101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.536e-06	5.884e-05	7.191e-06	0	.	0	0	.	.	0	0	0	0	4.431e-05	0	0	0	0	2.25e-05	0.0015	0	4.61e-05	0.0002	5.98e-06	2.66e-06	.	.	0	0	7.67e-05	0	0.0002	0.0001	0	0	0	0	.	.	.	0.088	0.40747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01825	.	.	.	.	.	.	.	0.08561024	0.14470	T	.	.	.	.	.	.	.	.	.	0.0396548642750254	0.03911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	-7.48	0.57470	T	.	.	0.126	0.26669	B	.;.	.;.	-0.093702	0.03679	0.743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.087000	0.11181	-2.695000	0.03458	-0.764000	0.03494	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	256.14	604	chr7	100954855	.	A	G	256.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=6.29;DP=8520;ExcessHet=0;FS=43.414;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=58.55;MQRankSum=-15.55;QD=0.59;ReadPosRankSum=0.228;SOR=4.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,35:434:99:0|1:100954850_G_C:269,0,16649:100954850	16	0	1	2
chr7	100954858	100954858	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A3079G:p.T1027A	.	1002	512	6	2	0	10	0.00967118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253536811	2.526e-05	0.0001	2.204e-05	2.837e-05	0.0001	1.149e-05	7.74e-06	4.5e-06	2.25e-06	0.0001	0	0	0	4.49e-05	0	1.693e-05	5.48e-05	0.0001	3.283e-05	0.0029	2.153e-05	4.451e-05	0.0003	8.72e-06	4.42e-06	.	.	0	0	0.0001	0	0.0003	0	0	2.354e-05	0	0	.	.	.	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.02559	.	.	.	.	.	.	.	0.08334914	0.13855	T	.	.	.	.	.	.	.	.	.	0.04319746289071145	0.04264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183182	0.01877	T	.	.	.	.	.	.	.	.	-7.357	0.56600	T	.	.	0.113	0.22208	B	.;.	.;.	-0.076276	0.03784	0.796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.178000	0.31590	-5.132000	0.01836	-0.764000	0.03494	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	251.12	609	chr7	100954858	.	A	G	251.12	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.41;DP=8588;ExcessHet=0;FS=43.414;InbreedingCoeff=-0.2354;MLEAC=2;MLEAF=0.143;MQ=58.56;MQRankSum=-15.62;QD=0.57;ReadPosRankSum=0.605;SOR=4.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:403,35:438:99:0|1:100954850_G_C:257,0,16817:100954850	6	0	1	12
chr7	100954873	100954873	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3094A:p.A1032T	.	771	738	8	5	0	18	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410727845	0.0001	0.0027	0.0001	0.0001	0.0007	0.0001	8.922e-05	0.0004	0.0003	0	0	0	0	0.0001	0	0.0001	0.0002	0.0007	0.0006	0.0093	0.0005	0.0008	0.0016	0.0005	0.0004	0.0006	0.0005	0.0005	0	0.0013	0.0008	0.0016	0.0005	0	0.0004	0.0013	0.0010	.	.	.	0.727	0.05238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.038853675	0.02333	T	.	.	.	.	.	.	.	.	.	0.013919596383098391	0.01348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-4.693	0.33319	T	.	.	0.093	0.14015	B	.;.	.;.	-0.940757	0.00860	0.030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.046000	0.03635	-3.144000	0.03024	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1057.89	678	chr7	100954873	.	G	A	1057.89	.	AC=1;AF=0.056;AN=18;BaseQRankSum=5.04;DP=8714;ExcessHet=0;FS=9.25;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.111;MQ=58.39;MQRankSum=-11.85;QD=2.34;ReadPosRankSum=0.013;SOR=1.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,54:453:99:0|1:100954850_G_C:1066,0,16591:100954850	8	0	1	10
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	86464.0	854	chr7	100960582	.	T	*	86464.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.881;DP=11676;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.041;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,127:560:44:0|1:100960582_T_A:6012,0,11982:100960582	14	0	5	0
chr7	100991974	100991974	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A1411G:p.S471G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0147797629134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.217e-07	6.84e-07	0	1.463e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.721e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.7	0.12268	T	-0.69	0.19720	N	0.047	0.02366	-0.9683	0.37551	T	0.015	0.05994	T	7	0.07978183	0.12873	T	0.01478	0.35118	T	0.032	0.07718	0.152	0.05544	0.0401082797425	0.02173	5.688263495414094E-4	0.00051	.	.	0.50385928154	0.39365	T	0.002984	0.02381	T	-0.354773	0.04435	T	-0.747384	0.03588	T	0.104106120132768	0.12802	T	0.335166	0.07140	T	0.079666615	0.18211	0.052018035	0.08486	0.079666615	0.18211	0.052018035	0.08486	-8.894	0.67012	D	.	.	0.262	0.49673	B	.;.	.;.	0.701240	0.10700	7.394	0.42413609012085912	0.03125	0.01396	0.04737	N	AEFDBI	0.058630	0.11015	N	-0.848877669490337	0.12077	0.5865472	-1.01103006230017	0.09542	0.4753306	8.91501781571813E-5	0.04703	0.615465	0.37627	0	0.524598	0.11158	1	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.695	0.695	0.17231	1.115000	0.30823	0.129000	0.15021	0.264000	0.18430	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.6644:0.0:0.3356:0.0	2.771	0.05005	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3187.33	384	chr7	100991974	.	A	G	3187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.593;DP=7698;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.709;SOR=0.634	GT:AD:DP:GQ:PL	0/1:256,143:399:99:3201,0,7640	18	0	1	0
chr7	100994984	100994984	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C4421T:p.T1474I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00534976568136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.707e-06	1.504e-05	3.866e-06	3.561e-06	4.153e-05	6.2e-07	2.3e-07	6.89e-06	2.58e-06	0	0	0	0	0	0	0	0	4.153e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.74	0.11730	T	-1.21	0.30762	N	0.034	0.01421	-0.9700	0.37200	T	0.019	0.07800	T	6	0.08589712	0.14548	T	0.00535	0.13710	T	0.041	0.10877	0.141	0.04462	0.0482279557977	0.04254	0.006246954363590508	0.00593	.	.	0.567522287369	0.48328	T	0.002699	0.02096	T	-0.339648	0.05412	T	-0.725658	0.04527	T	0.0504337304905048	0.05576	T	0.217778	0.03711	T	0.07268244	0.16186	0.09967598	0.23806	0.07268244	0.16186	0.09967598	0.23806	-7.643	0.60531	D	.	.	0.235	0.52622	B	.;.	.;.	0.953916	0.13303	9.804	0.88896476252633649	0.18344	0.00566	0.02572	N	AEFI	0.025849	0.01841	N	-0.856819223693405	0.11882	0.5759728	-1.02505340551202	0.09235	0.4583428	1.64293550208317E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.722	0.722	0.17379	0.004000	0.13007	-3.184000	0.02990	0.375000	0.20354	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	49.62	6	chr7	100994984	.	C	T	49.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.719;DP=171;ExcessHet=0;FS=0;InbreedingCoeff=-0.0423;MLEAC=1;MLEAF=0.026;MQ=27.12;MQRankSum=0.14;QD=5.51;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:100994984_C_T:63,0,269:100994984	18	0	1	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	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	0.015625	0.005435	0.000000	0.000000	0.083333	0.045455	0.023810	0.048780	0.07895	9769.79	60	chr7	101004493	.	C	G	9769.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.81;DP=1864;ExcessHet=0.3672;FS=0.533;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.01;MQRankSum=1.68;QD=12.97;ReadPosRankSum=-0.725;SOR=0.659	GT:AD:DP:GQ:PL	0/1:131,130:261:99:3144,0,3449	16	0	3	0
chr7	101038935	101038935	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A7519G:p.I2507V	.	427	1068	26	1	0	28	0.012939	.	.	.	2826036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00097120512408	0.0002	0.000599042	0.0012	0	0.0010	0	0	0.0005	0.0066	0.0058	0.0009961	154	154602	rs200633454	0.0007	0.0007	0.0004	0.0009	0.0068	0.0006	0.0006	0.0056	0.0055	0.0001	0.0005	0	0	1.872e-05	0.0068	0.0003	0.0007	0.0061	0.0004	0.0004	0.0003	0.0005	0.0050	0.0003	0.0003	0.0034	0.0029	2.413e-05	0	0.0003	0	0.0002	0	0.0034	0.0004	0.0019	0.0050	0.696	0.04226	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	4.41	0.02196	T	0.11	0.05706	N	0.024	0.00445	-0.9018	0.47803	T	0.004	0.01330	T	9	0.005528629	0.00122	T	9.71E-4	0.01003	T	0.010	0.01040	.	.	0.0138822411134	0.00435	4.890920599988548E-4	0.00044	.	.	0.213471114635	0.00968	T	0.018082	0.14638	T	-0.738436	0.00021	T	-0.831569	0.01235	T	0.0116830370596676	0.00179	T	0.212079	0.02586	T	0.016883628	0.00229	0.024827624	0.00509	0.016883628	0.00229	0.024827624	0.00509	-6.703	0.51833	T	.	.	0.106	0.19720	B	.	.	-0.996361	0.00776	0.025	0.3150820075649714	0.01779	0.00150	0.00907	N	AEFDGBI	0.029642	0.02836	N	-1.33509676875869	0.03282	0.1463393	-1.40984951827488	0.03153	0.1465084	4.06644817988526E-4	0.06860	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.953	-0.0922	0.12993	-1.948000	0.01624	-0.460000	0.09044	-1.182000	0.01385	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.243:0.0:0.757:0.0	5.144	0.14304	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004757	0.000000	0.008152	0.000000	0.050000	0.000000	0.003049	0.003788	0.02632	8952.33	957	chr7	101038935	.	A	G	8952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.306;DP=7292;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=1.93;QD=12.81;ReadPosRankSum=-0.331;SOR=0.701	GT:AD:DP:GQ:PL	0/1:363,336:699:99:8966,0,10318	18	0	1	0
chr7	101222766	101222766	C	T	exonic	ZNHIT1	.	nonsynonymous SNV	ZNHIT1:NM_006349:exon2:c.C185T:p.A62V	.	420	1095	6	1	0	8	0.00363967	.	.	.	2700994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00845713212277	7.7e-05	.	1.668e-05	0	0	0	0	1.52e-05	0.0011	0	1.29e-05	2	154602	rs372877953	1.985e-05	2.052e-05	1.907e-05	2.063e-05	0.0005	1.392e-05	1.204e-05	0.0001	7.55e-05	0	0	0	0	0	0.0005	2.069e-05	4.969e-05	0	1.314e-05	1.313e-05	0	2.69e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.298	0.14595	T	0.285	0.21343	T	0.203	0.29776	B	0.018	0.18489	B	0.001339	0.39379	N	0.249000	0.963707	0.38364	D	0.6	0.15550	N	.	.	.	-0.21	0.10308	N	0.274	0.31027	-0.9714	0.36904	T	0.118	0.41582	T	9	0.10276523	0.18854	T	0.008457	0.22382	T	0.039	0.10176	.	.	0.107399877778	0.10242	0.2789264228225922	0.27805	0.430058633402	0.43270	0.663012504578	0.61840	T	0.023471	0.17908	T	-0.278442	0.10833	T	-0.457443	0.26879	T	0.128225421227765	0.15216	T	0.869413	0.57379	D	0.088201754	0.20567	0.075029634	0.16476	0.088201754	0.20567	0.075029634	0.16476	-3.868	0.21824	T	.	.	0.091	0.13315	B	.	.	3.166788	0.42928	21.6	0.9890288993189752	0.48217	0.86249	0.45493	D	AEFBI	0.724554	0.67382	D	-0.132265497567216	0.35992	2.074536	0.0417993441060929	0.41677	2.507927	0.97926345411698	0.30009	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	2.705000	0.46795	7.602000	0.61596	0.513000	0.23382	0.946000	0.32893	1.000000	0.68203	0.196000	0.21779	0.0:1.0:0.0:0.0	16.122	0.81175	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1040.33	33	chr7	101222766	.	C	T	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.601;SOR=0.651	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1054,0,970	18	0	1	0
chr7	102496932	102496932	C	T	exonic	RASA4B	.	nonsynonymous SNV	RASA4B:NM_001277335:exon9:c.G770A:p.R257Q,RASA4B:NM_001367767:exon9:c.G770A:p.R257Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	.	.	0.0058	0.0329	0.0119	0	0	0	0	0	7.68e-05	2	26028	rs754196581	0.0004	0.0008	0.0004	0.0004	0.0118	0.0004	0.0003	0.0108	0.0104	0.0118	0.0009	0	0	0	0.0013	3.44e-05	0.0009	0.0004	0.0049	0.0081	0.0049	0.0049	0.0169	0.0046	0.0045	0.0159	0.0154	0.0169	0	0.0022	0	0	0	0.0035	5.972e-05	0.0024	0.0002	0.227	0.18498	T	0.046	0.49663	D	0.36	0.33860	B	0.051	0.36167	B	0.003531	0.34820	N	0.180989	0.968626	0.39712	D	1.98	0.53716	M	0.08	0.69896	T	-2.2	0.52289	N	0.256	0.30800	-0.7590	0.57460	T	0.197	0.55215	T	10	0.008849412	0.00200	T	.	.	.	0.104	0.29647	.	.	0.278932316844	0.27492	0.232338255826325	0.23148	2.13339230401	0.95189	.	.	.	0.021179	0.16539	T	-0.0808821	0.39571	T	-0.353958	0.38750	T	0.0458320752604808	0.04753	T	0.880912	0.59977	D	0.20937559	0.43203	0.12425497	0.29951	0.20937559	0.43202	0.12425497	0.29951	-7.705	0.59042	D	.	.	0.071	0.08997	B	.;.;.	.;.;.	4.340717	0.66595	25.0	0.99841467212293811	0.92229	0.96568	0.69792	D	AEFI	0.693347	0.65271	D	-0.0644218250842672	0.38962	2.29004	0.018402050194129	0.40570	2.423299	0.0289455304205575	0.13860	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.57	2.67	0.30756	3.042000	0.49504	1.741000	0.28400	0.484000	0.22197	1.000000	0.71638	0.997000	0.33255	0.950000	0.49671	0.0:0.8918:0.0:0.1082	10.330	0.43000	513	0.74941	Ras GTPase-activating domain;Ras GTPase-activating domain;Ras GTPase-activating domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	695.33	36	chr7	102496932	.	C	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=779;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.46;MQRankSum=1.52;QD=6.44;ReadPosRankSum=1.73;SOR=0.997	GT:AD:DP:GQ:PL	0/1:77,31:108:99:709,0,1907	18	0	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	.	.	.	.	.	.	.	.	0.05263	4414.83	86	chr7	105613788	.	C	T	4414.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.43;DP=1301;ExcessHet=0.119;FS=1.322;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.84;SOR=0.604	GT:AD:DP:GQ:PL	0/1:93,72:165:99:2059,0,2364	17	0	2	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	302.82	110	chr7	105614066	.	G	C	302.82	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.972;DP=2197;ExcessHet=0.7564;FS=135.624;InbreedingCoeff=-0.2184;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.08;SOR=10.318	GT:AD:DP:GQ:PL	0/1:80,22:102:21:21,0,1653	10	0	4	5
chr7	108063799	108063799	G	A	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon22:c.C3023T:p.P1008L,LAMB4:NM_001318047:exon22:c.C3023T:p.P1008L,LAMB4:NM_007356:exon22:c.C3023T:p.P1008L	.	431	1089	1	1	0	3	0.00137552	.	.	.	3456216	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0317074025902	.	.	9.884e-05	0	0	0	0	0.0001	0.0011	0.0002	7.76e-05	12	154602	rs200188661	7.319e-05	7.319e-05	6.942e-05	7.7e-05	0.0009	6.181e-05	5.741e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0009	7.194e-05	1.656e-05	0.0002	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.409e-05	0	0	0.367	0.47745	T	0.872	0.67890	T	0.51	0.37313	P	0.231	0.38266	B	0.000072	0.52346	D	0.000000	0.999999	0.58761	D	2.19	0.61577	M	-0.05	0.63403	T	-3.62	0.71882	D	0.346	0.40465	-0.8081	0.54665	T	0.215	0.57679	T	10	0.29863164	0.47419	T	0.031707	0.53723	D	0.219	0.51417	0.617	0.75116	0.197625483188	0.19356	0.5734865640010341	0.57277	0.355917941102	0.37347	0.472314745188	0.34998	T	0.281523	0.65425	T	-0.221393	0.17804	T	-0.281492	0.46650	T	0.640849232673645	0.38073	D	0.69863	0.30863	T	0.21582863	0.44026	0.25258967	0.50890	0.21582863	0.44026	0.25258967	0.50889	-6.633	0.51304	T	.	.	0.094	0.14339	B	.;.;.	.;.;.	3.994805	0.58824	24.0	0.74578258396154651	0.10748	0.69843	0.34349	D	ALL	0.434872	0.49574	N	-0.159529257713318	0.34831	1.993147	-0.174118039034668	0.32491	1.849061	0.999999999999999	0.74766	0.554377	0.28877	0	0.596394	0.48810	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.02	4.14	0.47821	3.163000	0.50462	4.393000	0.43220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.609000	0.31615	0.0755:0.0:0.9245:0.0	13.443	0.60573	720	0.55521	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	780.33	33	chr7	108063799	.	G	A	780.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=700;ExcessHet=0;FS=6.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.445;SOR=1.38	GT:AD:DP:GQ:PL	0/1:53,32:85:99:794,0,1331	18	0	1	0
chr7	108066513	108066513	C	T	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon20:c.G2534A:p.R845H,LAMB4:NM_001318047:exon20:c.G2534A:p.R845H,LAMB4:NM_007356:exon20:c.G2534A:p.R845H	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0218377442722	.	.	0.0001	0.0001	0	0	0	0.0001	0.0012	0.0004	0.0001164	18	154602	rs199518603	8.62e-05	8.756e-05	8.032e-05	9.214e-05	0.0009	7.354e-05	6.904e-05	0.0003	0.0002	5.974e-05	2.236e-05	0	0	0	0.0009	8.184e-05	6.624e-05	0.0003	5.914e-05	5.91e-05	6.423e-05	5.38e-05	0.0001	3.077e-05	2.21e-05	2.261e-05	1.032e-05	7.239e-05	0	0.0001	0	0	0	0	4.409e-05	0.0005	0	0.087	0.32453	T	0.028	0.54934	D	0.141	0.27581	B	0.029	0.21540	B	0.263535	0.15267	N	0.575580	0.569502	0.31190	N	2.505	0.72935	M	-0.04	0.63240	T	-3.32	0.66085	D	0.074	0.04913	-0.8448	0.52325	T	0.216	0.57771	T	10	0.07836059	0.12479	T	0.021838	0.44662	T	0.173	0.43840	0.589	0.71749	0.0401082797425	0.02173	0.49261044913595436	0.49182	0.094433556557	0.10659	0.187885701656	0.00190	T	0.253895	0.62448	T	-0.399098	0.02347	T	-0.510729	0.21241	T	0.0582082457840443	0.06884	T	0.89721	0.64041	D	0.09739298	0.22955	0.14829461	0.35061	0.09739298	0.22955	0.14829461	0.35060	-6.234	0.48197	T	.	.	0.071	0.04119	B	.;.	.;.	0.744507	0.11139	7.782	0.98139887597296305	0.38597	0.09447	0.15201	N	AEFDGBCI	0.076232	0.15330	N	-0.727370384151214	0.15255	0.7672038	-0.881082967882294	0.12542	0.6457763	0.999164771871028	0.38622	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	4.98	-3.3	0.04692	-1.945000	0.01628	-7.842000	0.01076	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.319000	0.24947	0.2869:0.3155:0.0983:0.2992	0.974	0.01334	717	0.55835	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1562.33	33	chr7	108066513	.	C	T	1562.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=766;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.762;SOR=0.629	GT:AD:DP:GQ:PL	0/1:78,61:139:99:1576,0,1876	18	0	1	0
chr7	110886666	110886666	T	C	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon5:c.A335G:p.K112R,IMMP2L:NM_001244606:exon6:c.A335G:p.K112R,IMMP2L:NM_001350960:exon6:c.A335G:p.K112R,IMMP2L:NM_001350959:exon7:c.A335G:p.K112R,IMMP2L:NM_001350961:exon7:c.A419G:p.K140R	.	420	1095	6	1	0	8	0.00363967	.	.	.	3208172	IMMP2L-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.088	.	.	0.00139776	0.0017	9.617e-05	0.0004	0	0	9.017e-05	0.0033	0.0114	0.0014165	219	154602	rs200836792	0.0008	0.0008	0.0005	0.0010	0.0104	0.0007	0.0007	0.0098	0.0096	3.014e-05	0.0004	0	0	0	0.0010	9.616e-05	0.0011	0.0104	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	9.625e-05	0	0.0002	0	0	0	0.0034	0.0002	0	0.0091	0.549	0.09514	T	0.749	0.23365	T	0.002	0.09854	B	0.012	0.16012	B	0.000013	0.62929	N	0.147879	0.976498	0.27063	N	0.415	0.12483	N	.	.	.	-0.22	0.10480	N	0.223	0.25006	-1.0695	0.09523	T	0.065	0.26983	T	9	0.009037107	0.00205	T	.	.	.	0.088	0.25558	.	.	0.3349148499	0.33108	0.33534223347946146	0.33447	0.11506021578	0.12980	0.315772652626	0.12780	T	0.087393	0.37932	T	-0.552624	0.00281	T	-0.557187	0.16642	T	0.0130221574993659	0.00227	T	0.788521	0.42806	T	0.05327822	0.10058	0.054215528	0.09283	0.05327822	0.10058	0.054215528	0.09283	-3.643	0.18481	T	.	.	0.083	0.09917	B	.;.;.;.	.;.;.;.	0.617529	0.09862	6.622	0.99194142721685719	0.55083	0.66508	0.33103	D	AEFI	0.160326	0.28625	N	-0.850501583370816	0.12038	0.5843677	-0.663273397227511	0.17882	0.952834	1.59830198516366E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.58	0.414	0.15624	0.668000	0.24808	0.446000	0.18474	-0.817000	0.03001	0.999000	0.42656	0.999000	0.35428	0.888000	0.42677	0.0:0.2617:0.0:0.7383	9.663	0.39132	639	0.64210	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07895	7832.79	34	chr7	110886666	.	T	C	7832.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.03;DP=1192;ExcessHet=0.3672;FS=0.519;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.316;SOR=0.736	GT:AD:DP:GQ:PL	0/1:103,111:214:99:2841,0,2503	16	0	3	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	177.33	129	chr7	124032238	.	T	C	177.33	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-4.117;DP=1728;ExcessHet=0.3672;FS=117.616;InbreedingCoeff=-0.1339;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=1.11;SOR=9.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,23:129:19:.:.:19,0,2328:.	13	0	3	3
chr7	138739614	138739614	T	C	exonic	ATP6V0A4	.	nonsynonymous SNV	ATP6V0A4:NM_130840:exon14:c.A1498G:p.S500G,ATP6V0A4:NM_130841:exon14:c.A1498G:p.S500G,ATP6V0A4:NM_020632:exon15:c.A1498G:p.S500G	Renal tubular acidosis, distal, autosomal recessive	1	1494	26	1	0	28	0.00928382	.	.	YES	309838	not_specified|not_provided|Autosomal_recessive_distal_renal_tubular_acidosis|Distal_Renal_Tubular_Acidosis,_Recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018440,MedGen:C1864498,Orphanet:402041|MedGen:CN239177	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	.	0.0002	0.00279553	0.0027	0	0.0008	0	0	0.0005	0.0066	0.0172	0.0023156	358	154602	rs142818468	0.0013	0.0013	0.0008	0.0018	0.0163	0.0013	0.0012	0.0156	0.0153	0.0002	0.0006	3.826e-05	0	1.873e-05	0.0040	0.0003	0.0012	0.0163	0.0008	0.0008	0.0007	0.0010	0.0118	0.0007	0.0007	0.0094	0.0085	7.219e-05	0	0.0012	0	0	0	0	0.0007	0.0014	0.0118	0.038	0.42783	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.101629	0.19830	N	0.526300	1	0.08975	N	0.285	0.10073	N	-2.04	0.85703	D	-1.13	0.29114	N	0.212	0.23632	-0.8450	0.52311	T	0.216	0.57732	T	10	0.0043908656	0.00089	T	.	.	.	0.351	0.67234	.	.	0.759034660513	0.75684	0.39776035607268057	0.39691	0.177074262078	0.19922	0.288669228554	0.08729	T	0.158114	0.50101	T	-0.47229	0.00823	T	-0.438214	0.29010	T	0.0199759674891632	0.00698	T	0.169783	0.01594	T	0.13728155	0.31792	0.07137801	0.15278	0.104006514	0.24584	0.06865264	0.14364	-4.465	0.30428	T	0.21579293709666367	0.29017	0.089	0.13550	B	.;.;.;.;.;.	.;.;.;.;.;.	2.459375	0.31677	18.81	0.96525507524474463	0.30133	0.75042	0.36726	D	AEFBHCI	0.422363	0.48840	N	-0.650970891474921	0.17432	0.8969671	-0.49214327649808	0.22369	1.214642	0.999778323642658	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	5.200000	0.64994	5.035000	0.46860	0.665000	0.62972	0.724000	0.28861	0.929000	0.28499	0.017000	0.10941	0.0:0.1561:0.0:0.8439	7.847	0.28594	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.003788	0.07895	2917.77	33	chr7	138739614	.	T	C	2917.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.266;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.34;ReadPosRankSum=1.55;SOR=0.675	GT:AD:DP:GQ:PL	0/1:25,39:64:99:1158,0,588	17	1	1	0
chr7	140544588	140544588	C	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318053:exon14:c.G2357A:p.R786H	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0076773258269	0.0005	.	0.0010	0.0002	0.0004	0.0001	0.0005	0.0012	0.0024	0.0019	0.0008667	134	154602	rs369271982	0.0010	0.0010	0.0009	0.0011	0.0135	0.0009	0.0009	0.0111	0.0102	0.0002	0.0007	0.0002	0.0001	0.0002	0.0135	0.0009	0.0012	0.0025	0.0007	0.0007	0.0005	0.0008	0.0015	0.0006	0.0005	0.0007	0.0007	0.0002	0	0.0009	0	0	0.0007	0.0102	0.0009	0	0.0015	0.141	0.25560	T	0.234	0.24840	T	0.798	0.44840	P	0.191	0.36391	B	.	.	.	.	1	0.08975	N	.	.	.	2.92	0.09915	T	-0.7	0.19933	N	0.092	0.07125	-1.0107	0.26698	T	0.018	0.07423	T	8	0.010175824	0.00228	T	0.007677	0.20378	T	0.042	0.11227	.	.	0.128874641272	0.12493	.	.	.	.	.	.	.	.	.	.	-0.679009	0.00049	T	-0.754602	0.03310	T	0.00580100250626566	0.00063	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.131	0.11656	T	.	.	0.106	0.19478	B	.	.	0.979020	0.13562	10.09	0.72916559753430643	0.10141	0.16515	0.19425	N	AEFDGBHCI	0.083501	0.16916	N	-0.913242395260432	0.10531	0.503709	-1.07731169119152	0.08147	0.3993666	0.999997118494914	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.87	-0.412	0.11750	0.123000	0.15536	-1.611000	0.05064	-0.860000	0.02636	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1289:0.4213:0.3723:0.0775	5.602	0.16638	620	0.66037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	39	chr7	140544588	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.952;DP=748;ExcessHet=0;FS=3.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.117;SOR=0.921	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1058,0,1400	18	0	1	0
chr7	143398373	143398373	C	T	exonic	EPHA1	.	nonsynonymous SNV	EPHA1:NM_005232:exon7:c.G1412A:p.R471Q	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0020	0.00259585	0.0029	0.0003	0.0005	0	0.0002	0.0022	0.0011	0.0122	0.0028266	437	154602	rs143535859	0.0027	0.0027	0.0023	0.0031	0.0116	0.0026	0.0026	0.0110	0.0108	0.0003	0.0010	7.652e-05	7.557e-05	1.872e-05	0.0099	0.0024	0.0025	0.0116	0.0018	0.0018	0.0016	0.0019	0.0124	0.0016	0.0015	0.0099	0.0090	0.0004	0	0.0007	0	0	0	0.0136	0.0026	0.0005	0.0124	0.595	0.05720	T	0.797	0.04104	T	0.015	0.17086	B	0.008	0.13708	B	0.228235	0.15980	N	0.562825	0.999999	0.08975	N	-0.51	0.02586	N	0.4	0.57261	T	0.39	0.03521	N	0.154	0.15888	-1.0489	0.14705	T	0.068	0.27845	T	10	0.004873246	0.00104	T	.	.	.	0.038	0.09825	.	.	0.324161360171	0.32030	0.3482857113977316	0.34742	0.163144533903	0.18410	0.267599970102	0.05830	T	0.110907	0.42597	T	-0.557582	0.00262	T	-0.564309	0.15975	T	0.0108359602405479	0.00154	T	.	.	.	0.04821828	0.08370	0.040039677	0.04236	0.04821828	0.08369	0.040039677	0.04236	-4.223	0.27083	T	.	.	0.063	0.01491	B	.	.	2.164478	0.27577	17.51	0.7814562810436716	0.12174	0.24837	0.22516	N	AEFDBCI	0.077329	0.15576	N	-0.776125819730992	0.13934	0.6901381	-0.696361390555974	0.17051	0.9049153	0.999725218714266	0.42220	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.98	3.07	0.34476	0.512000	0.22461	1.726000	0.28294	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.078000	0.17132	0.0:0.7847:0.0:0.2152	7.659	0.27561	819	0.41190	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	0.005539	0.010101	0.002717	0.005848	0.050000	0.017241	0.003049	0.011364	0.02632	1718.33	39	chr7	143398373	.	C	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.38;DP=855;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.319;SOR=0.693	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1732,0,1647	18	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,25:127:99:0|1:143478290_A_G:269,0,3733:143478290	9	0	9	1
chr7	144185419	144185419	C	T	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.C1916T:p.P639L,CTAGE4:NM_198495:exon1:c.C1916T:p.P639L	.	548	969	5	0	0	5	0.00257334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0143	0.0088	0	0	0	0.0060	0	0.0570	3.84e-05	1	26028	rs200277728	0.0017	0.0020	0.0015	0.0020	0.0090	0.0017	0.0016	0.0084	0.0082	0.0011	0.0004	0	2.716e-05	0.0034	0.0025	0.0012	0.0019	0.0090	0.0010	0.0013	0.0009	0.0012	0.0095	0.0008	0.0008	0.0061	0.0050	0.0004	0	0.0004	0	0	0.0026	0	0.0010	0.0013	0.0095	0.024	0.47745	D	0.002	0.79402	D	0.999	0.77913	D	0.969	0.72001	D	.	.	.	.	0.999995	0.08975	N	2.8	0.81625	M	1.03	0.40469	T	-5.79	0.88065	D	0.14	0.13911	-0.8814	0.49650	T	0.246	0.61495	T	7	0.009071469	0.00205	T	.	.	.	0.088	0.25558	.	.	0.339555952218	0.33569	0.3269047482058614	0.32603	.	.	0.51393532753	0.40773	T	0.171029	0.51900	T	-0.255278	0.13458	T	-0.604466	0.12438	T	0.065502862962194	0.08005	T	0.957404	0.83962	D	0.082335584	0.18962	0.1524629	0.35868	0.082335584	0.18961	0.1524629	0.35868	-5.27	0.39645	T	.	.	0.114	0.22500	B	.	.	2.254335	0.28799	17.92	0.97048378785617362	0.32142	0.10809	0.16207	N	AEFI	0.038142	0.05353	N	-0.13491343742514	0.35880	2.06652	-0.469214264353895	0.23007	1.252492	7.78365322721045E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.534000	0.35656	-0.675000	0.07915	0.228000	0.18124	1.000000	0.71638	0.000000	0.08366	0.017000	0.10941	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	251.0	12	chr7	144185419	.	C	T	251.0	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.72;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0404;MLEAC=1;MLEAF=0.028;MQ=26.55;MQRankSum=2.27;QD=6.44;ReadPosRankSum=-2.04;SOR=0.195	GT:AD:DP:GQ:PL	0/1:27,12:39:99:264,0,722	17	0	1	1
chr7	144187825	144187825	C	G	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.G559C:p.E187Q,ARHGEF35:NM_001368318:exon2:c.G559C:p.E187Q	.	612	876	28	3	3	37	0.019037	.	.	.	2337684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00169180372267	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs201944335	0.0064	0.0077	0.0062	0.0067	0.0139	0.0063	0.0062	0.0106	0.0094	0.0013	0.0022	0.0056	2.667e-05	0.0096	0.0139	0.0072	0.0067	0.0056	0.0051	0.0057	0.0047	0.0055	0.0070	0.0047	0.0045	0.0063	0.0061	0.0013	0.0031	0.0014	0.0081	0	0.0116	0.0165	0.0070	0.0068	0.0041	0.119	0.28026	T	0.0	0.92824	D	0.979	0.59044	D	0.569	0.49832	P	.	.	.	.	1	0.08975	N	0.115	0.08564	N	.	.	.	-1.12	0.28906	N	0.056	0.02759	-1.0508	0.14175	T	0.050	0.21143	T	8	0.0052297115	0.00114	T	0.001692	0.02805	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.012538113747808237	0.01212	1.20996141533	0.80807	.	.	.	0.027401	0.20077	T	-0.324106	0.06567	T	-0.703332	0.05646	T	0.0263475960612305	0.01452	T	0.441056	0.12198	T	0.04931713	0.08737	0.02897034	0.01186	0.04931713	0.08736	0.02897034	0.01186	-3.608	0.17973	T	.	.	0.142	0.31253	B	.	.	0.000811	0.04287	1.074	0.82756175661562648	0.14358	0.02487	0.06962	N	AEFI	0.047717	0.08064	N	-0.732376235384541	0.15117	0.7590086	-0.930539775724398	0.11375	0.5791232	1.16699438665459E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.63	-0.617	0.10999	-0.845000	0.04448	-0.671000	0.07934	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.5001:0.0:0.4999	5.246	0.14812	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	287.33	38	chr7	144187825	.	C	G	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25;MQRankSum=0;QD=8.21;ReadPosRankSum=1.15;SOR=0.521	GT:AD:DP:GQ:PL	0/1:21,14:35:99:301,0,519	18	0	1	0
chr7	151017076	151017076	G	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon9:c.C2249T:p.P750L	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0252743394265	0.0007	0.000599042	0.0012	0.0004	0.0010	0	0.0004	0.0020	0	0	0.0006145	95	154602	rs202120062	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0011	0.0011	5.995e-05	0.0006	0.0002	0	0.0003	0	0.0012	0.0012	0	0.0008	0.0008	0.0008	0.0008	0.0018	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0018	0.0003	0	0.0002	0	0.0013	0.0009	0	.	.	.	0.22	0.25907	T	0.138	0.27452	B	0.063	0.27082	B	0.000315	0.45977	D	0.154623	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.54409	-0.8221	0.53802	T	0.156	0.48824	T	7	0.011399955	0.00249	T	0.025274	0.48255	D	.	.	.	.	0.51792882206	0.51437	0.5629619132021062	0.56223	.	.	0.44734993577	0.31582	T	0.034306	0.23270	T	-0.251123	0.13960	T	-0.163576	0.58028	T	0.139106437563896	0.16197	T	0.686231	0.29475	T	0.23084469	0.45846	0.26256487	0.52050	0.23084469	0.45847	0.26256487	0.52049	-4.31	0.28316	T	.	.	0.078	0.09288	B	.;.	.;.	3.219604	0.43859	21.8	0.56828862306277128	0.05637	0.91597	0.53861	D	AEFBHCI	0.560071	0.56862	D	-0.25370148816896	0.30957	1.731061	-0.19820022009112	0.31603	1.790042	0.999999999964186	0.74766	0.095506	0.02484	0	0.096583	0.02683	0	0.104817	0.03109	0	0.078985	0.02075	0	.	.	5.33	5.33	0.75683	4.910000	0.63017	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	16.511	0.84132	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001523	0.000000	0.001366	0.000000	0.000000	0.000000	0.003125	0.000000	0.02632	538.33	42	chr7	151017076	.	G	A	538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.289;DP=684;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.899;SOR=0.902	GT:AD:DP:GQ:PL	0/1:24,21:45:99:552,0,693	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:228,49:277:99:563,0,8335	1	0	18	0
chr7	157216930	157216930	A	G	exonic	UBE3C	.	nonsynonymous SNV	UBE3C:NM_014671:exon14:c.A1873G:p.N625D	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00632943881195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.544e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.332	0.18449	T	0.017	0.17573	B	0.004	0.10090	B	0.000005	0.62929	D	0.106423	0.898588	0.36116	D	0.12	0.08593	N	1.0	0.41392	T	-1.54	0.37375	N	0.229	0.25745	-1.0845	0.06498	T	0.080	0.31735	T	10	0.15503111	0.29229	T	0.006329	0.16639	T	0.053	0.14996	0.413	0.45052	0.15499578495	0.15088	0.33734717215800897	0.33647	1.015795043	0.74944	0.64892667532	0.59833	T	0.163841	0.50907	T	-0.246816	0.14492	T	-0.592311	0.13467	T	0.941684007644653	0.61517	D	0.833117	0.50161	T	0.16953287	0.37475	0.15699512	0.36730	0.16953287	0.37475	0.15699512	0.36729	-2.514	0.05877	T	.	.	0.061	0.01109	B	.	.	2.503900	0.32326	19.01	0.99268276866948424	0.57457	0.89819	0.50534	D	AEFBI	0.320136	0.42333	N	-0.150405190863965	0.35218	2.020055	0.0122383457109657	0.40282	2.401533	0.998051379255196	0.36367	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.36	4.22	0.49153	6.190000	0.71980	2.602000	0.33527	0.691000	0.84096	1.000000	0.71638	0.342000	0.24428	0.998000	0.85391	0.9259:0.0:0.0741:0.0	10.784	0.45595	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	.	.	.	.	.	.	.	.	0.02632	544.33	33	chr7	157216930	.	A	G	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=676;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-1.541;SOR=0.904	GT:AD:DP:GQ:PL	0/1:32,24:56:99:558,0,777	18	0	1	0
chr8	7482710	7482710	C	G	exonic	DEFB106A;DEFB106B	.	nonsynonymous SNV	DEFB106B:NM_001040704:exon2:c.G92C:p.G31A,DEFB106A:NM_152251:exon2:c.G92C:p.G31A	.	503	1018	1	0	0	1	0.000490918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0252906856732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.225	0.25514	T	.	.	.	.	.	.	0.000227	0.47286	D	0.000000	1	0.08975	N	.	.	.	0.03	0.62183	T	-6.0	0.89534	D	0.715	0.71765	-0.6674	0.61946	T	0.372	0.73076	T	9	0.73233545	0.74384	D	0.025291	0.48264	D	0.205	0.49236	0.397	0.42426	0.594874987132	0.59165	0.7415104533306115	0.74097	.	.	0.58139193058	0.50282	T	.	.	.	0.0454031	0.57748	T	-0.172558	0.57210	T	0.978051602840424	0.72138	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.56882	A	.	.	3.095569	0.41698	21.4	0.99285270063725062	0.58043	0.33830	0.24923	N	AEFI	0.066860	0.13115	N	0.0737501000505284	0.45239	2.783936	-0.120630025707348	0.34558	1.989295	4.03640174806796E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.0	3.0	0.33773	1.682000	0.37245	4.760000	0.44710	0.519000	0.23678	0.778000	0.29449	0.999000	0.35428	0.005000	0.06747	0.0:1.0:0.0:0.0	9.647	0.39037	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	1327.8	33	chr8	7482710	.	C	G	1327.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.92;DP=822;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.086;MLEAC=3;MLEAF=0.079;MQ=33;MQRankSum=0.17;QD=5.38;ReadPosRankSum=-1.514;SOR=0.653	GT:AD:DP:GQ:PL	0/1:43,25:68:99:526,0,1109	16	0	3	0
chr8	8703108	8703108	-	CAAGCC	exonic	CLDN23	.	nonframeshift insertion	CLDN23:NM_194284:exon1:c.710_711insCAAGCC:p.K244_V245insPK	.	0	222	4	0	0	4	0.00892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	.	0.0064	0.026	0.0037	0	0	0.0020	0.0130	0.0135	0.001191	31	26028	rs57083604	0.0030	0.0031	0.0027	0.0032	0.0260	0.0029	0.0029	0.0245	0.0239	0.0260	0.0023	0.0049	2.809e-05	0.0003	0.0064	0.0016	0.0047	0.0138	0.0091	0.0092	0.0092	0.0090	0.0272	0.0087	0.0086	0.0259	0.0254	0.0272	0	0.0039	0.0058	0.0002	0.0002	0.0034	0.0017	0.0052	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2396.79	38	chr8	8703108	.	G	GCAAGCC	2396.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.316;DP=843;ExcessHet=0.119;FS=7.293;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=1.03;SOR=0.816	GT:AD:DP:GQ:PL	0/1:36,31:67:99:1183,0,1399	17	0	2	0
chr8	8891367	8891367	G	C	exonic	MFHAS1	.	nonsynonymous SNV	MFHAS1:NM_004225:exon1:c.C1692G:p.H564Q	Malignant fibrous histiocytoma	425	1094	3	0	0	3	0.00136924	.	.	.	2345267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00184350341393	0.0004	0.000199681	0.0003	0.0001	0	0	0	0.0003	0.0011	0.0010	0.0002717	42	154602	rs141836174	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0	4.474e-05	0.0052	0	0	0.0005	8.363e-05	0.0006	0.0011	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	7.287e-05	5.087e-05	2.404e-05	0	0	0.0066	0	0	0.0034	0.0001	0.0005	0.0004	0.573	0.06125	T	0.242	0.24264	T	0.002	0.09854	B	0.001	0.04355	B	0.031917	0.25103	N	0.384296	0.994859	0.23428	N	0	0.06538	N	1.43	0.32958	T	0.26	0.04380	N	0.107	0.09207	-1.0155	0.25175	T	0.022	0.09238	T	10	0.0033741295	0.00059	T	0.001844	0.03193	T	0.012	0.01476	0.24	0.17218	0.0806252709748	0.07271	0.6338972278163989	0.63323	0.204610419644	0.22881	0.474706113338	0.35329	T	0.015944	0.13275	T	-0.66153	0.00061	T	-0.76857	0.02815	T	0.00951152476903463	0.00123	T	0.583442	0.21195	T	0.024383737	0.01265	0.032953046	0.02112	0.024383737	0.01265	0.032953046	0.02112	-5.572	0.42536	T	.	.	0.075	0.05404	B	.	.	0.250666	0.06301	2.758	0.82095377030561523	0.14016	0.25689	0.22774	N	AEFDBCI	0.087567	0.17755	N	-1.43122931238038	0.02368	0.1045097	-1.35765947440002	0.03716	0.1739239	0.999991611085102	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	5.15	-4.21	0.03552	-0.311000	0.08164	-3.354000	0.02851	-0.712000	0.03928	0.102000	0.22834	0.000000	0.08366	0.892000	0.42986	0.5469:0.1717:0.2815:0.0	8.400	0.31740	849	0.35778	Roc domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3328.83	40	chr8	8891367	.	G	C	3328.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=1001;ExcessHet=0.119;FS=0.983;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.013;SOR=0.764	GT:AD:DP:GQ:PL	0/1:45,59:104:99:1656,0,1119	17	0	2	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,59:197:99:0|1:10609943_C_T:1377,0,5330:10609943	6	0	8	5
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1562	19088.4	307	chr8	10609948	.	C	T	19088.4	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,61:198:99:0|1:10609943_C_T:1394,0,5264:10609943	11	0	5	3
chr8	11984538	11984538	T	C	exonic	DEFB135	.	nonsynonymous SNV	DEFB135:NM_001033017:exon2:c.T182C:p.I61T	.	.	.	.	.	.	.	.	.	.	.	2250413	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00217313436215	.	.	2.499e-05	0	0	0	0	4.508e-05	0	0	1.94e-05	3	154602	rs778893958	1.549e-05	1.71e-05	1.113e-05	1.997e-05	1.942e-05	1.014e-05	8.66e-06	1.248e-05	1.059e-05	0	0	0	0	0	0	1.942e-05	1.715e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-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	0.834	0.02854	T	0.705	0.05622	T	0.0	0.02946	B	0.0	0.01387	B	0.001347	0.00773	N	5.123630	1	0.08975	N	.	.	.	2.91	0.10008	T	1.98	0.00416	N	0.136	0.13341	-1.0118	0.26353	T	0.011	0.04088	T	9	0.043723732	0.03252	T	0.002173	0.04071	T	0.057	0.16321	.	.	0.0611884634855	0.05136	0.19568975985601889	0.19485	0.00696279670166	0.00615	0.34618806839	0.17359	T	0.001191	0.00692	T	-0.514759	0.00472	T	-0.846741	0.01002	T	0.0494087183354607	0.05396	T	.	.	.	0.025701026	0.01537	0.039707493	0.04124	0.025701026	0.01537	0.039707493	0.04124	-1.635	0.02065	T	.	.	0.063	0.01534	B	.	.	-1.558956	0.00261	0.004	0.16010108685047517	0.00413	0.00126	0.00785	N	AEFBI	0.012020	0.00121	N	-1.64253529794663	0.01067	0.04630002	-1.73792690719391	0.00979	0.04388205	0.041135055206762	0.14471	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	-3.32	0.04663	-2.650000	0.00930	.	.	-0.909000	0.02273	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3417:0.2075:0.17:0.2808	0.084	0.00031	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	.	.	.	.	.	.	.	.	0.05263	2427.83	37	chr8	11984538	.	T	C	2427.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.76;DP=833;ExcessHet=0.119;FS=3.705;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.17;SOR=0.963	GT:AD:DP:GQ:PL	0/1:69,42:111:99:1086,0,1768	17	0	2	0
chr8	18400442	18400442	C	A	exonic	NAT2	.	nonsynonymous SNV	NAT2:NM_000015:exon2:c.C439A:p.P147T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00654565044518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.68238	T	0.02	0.67890	D	0.979	0.59044	D	0.853	0.60815	P	0.000009	0.62929	D	0.065480	0.998859	0.21853	N	.	.	.	4.52	0.01997	T	-4.96	0.82638	D	0.355	0.43706	-1.0964	0.04556	T	0.019	0.08173	T	10	0.4824195	0.60510	T	0.006546	0.17243	T	0.165	0.42395	0.59	0.71874	0.566300147016	0.56294	0.4963628494616889	0.49557	0.0196461541109	0.01931	0.403991669416	0.25624	T	0.012274	0.10818	T	-0.0888985	0.38259	T	-0.365473	0.37417	T	0.98940521478653	0.79642	D	0.942906	0.80370	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.68202	A	.;.	.;.	2.967211	0.39537	21.0	0.97755591728587998	0.35770	0.73113	0.35768	D	AEFBI	0.703015	0.65919	D	0.13185576080911	0.47952	3.013995	-0.0695013573192904	0.36657	2.13617	1.45779638182446E-4	0.05573	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	2.77	2.77	0.31614	3.729000	0.54724	3.352000	0.37793	0.504000	0.22967	0.972000	0.34453	0.938000	0.28711	0.014000	0.10232	0.0:1.0:0.0:0.0	9.206	0.36451	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2104.33	103	chr8	18400442	.	C	A	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.432;DP=2580;ExcessHet=0;FS=2.911;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=1.54;SOR=0.49	GT:AD:DP:GQ:PL	0/1:68,80:148:99:2118,0,1860	18	0	1	0
chr8	25363056	25363056	A	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon29:c.A2959T:p.M987L	.	427	1093	2	0	0	2	0.000914077	.	.	.	723024	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.244	.	7.7e-05	0.0151757	0.0060	0	0.0002	0.0762	0	0.0004	0.0011	0.0028	0.0054915	849	154602	rs74894413	0.0017	0.0017	0.0017	0.0018	0.0510	0.0017	0.0017	0.0492	0.0484	0	0	0.0033	0.0510	0	0	2.519e-05	0.0023	0.0030	0.0030	0.0031	0.0024	0.0037	0.0779	0.0028	0.0027	0.0716	0.0692	0	0	0.0002	0.0075	0.0779	0	0	1.47e-05	0.0014	0.0058	0.013	0.53900	D	0.071	0.43531	T	0.784	0.44396	P	0.54	0.48825	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	1.91	0.23283	T	-2.6	0.55983	D	0.737	0.73735	-1.1763	0.00427	T	0.005	0.01651	T	10	0.005972892	0.00134	T	.	.	.	0.309	0.63055	0.445	0.50302	0.219573609325	0.21563	0.5247868016643011	0.52402	0.22068252074	0.24616	0.696494698524	0.66638	T	0.227124	0.59233	T	-0.194927	0.21539	T	0.0166431	0.71413	D	0.0830540670650246	0.10373	T	0.911409	0.68582	D	0.62888545	0.74239	0.53419316	0.73084	0.62888545	0.74240	0.53419316	0.73084	-8.286	0.63002	D	.	.	0.543	0.66476	A	.	.	4.279612	0.65178	24.8	0.984454525579044	0.41564	0.99480	0.96546	D	AEFDGBHI	0.936905	0.93390	D	0.554169438728748	0.70335	5.486654	0.617789675148832	0.76233	6.453154	0.999999999890054	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.68	5.68	0.88021	9.290000	0.95109	11.234000	0.90205	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.929	0.79431	436	0.80373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1223.33	40	chr8	25363056	.	A	T	1223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.853;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.467;SOR=0.735	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1237,0,1641	18	0	1	0
chr8	27671103	27671103	A	C	exonic	SCARA3	.	nonsynonymous SNV	SCARA3:NM_016240:exon6:c.A1573C:p.K525Q	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	.	.	0.000998403	0.0010	0	0	0.0133	0	0	0	0.0009	0.0005757	89	154602	rs202059796	0.0002	0.0002	0.0002	0.0003	0.0060	0.0002	0.0002	0.0054	0.0052	0	0	0	0.0060	0	0	6.324e-06	0.0002	0.0011	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	0	0	0	0	0.0064	0	0	0	0	0.0014	0.032	0.44694	D	0.032	0.53426	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	0.91358	0.81001	D	0.775	0.19437	N	-4.05	0.96496	D	-1.13	0.29114	N	0.139	0.13769	0.929	0.96094	D	0.862	0.95394	D	10	0.008758783	0.00198	T	.	.	.	0.513	0.79156	0.372	0.38340	0.956004956884	0.95553	0.3040325885471319	0.30316	0.524533215775	0.50135	0.640898108482	0.58691	T	0.264891	0.63671	T	-0.153981	0.27691	T	0.0120143	0.71113	D	0.0897552697474524	0.11189	T	0.833717	0.50261	T	0.26742607	0.49815	0.17206177	0.39433	0.26742607	0.49814	0.17206177	0.39432	-4.01	0.23953	T	.	.	0.326	0.54933	B	.	.	4.420081	0.68456	25.2	0.99158154236188323	0.54015	0.92139	0.55031	D	AEFDBHCI	0.178504	0.30577	N	0.44049171086612	0.63667	4.604772	0.486603741308547	0.67101	5.039229	0.999999996881062	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.601832	0.32385	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	3.076000	0.49779	11.144000	0.87156	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.947	0.63598	512	0.75040	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	756.33	35	chr8	27671103	.	A	C	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.355;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.82;SOR=0.754	GT:AD:DP:GQ:PL	0/1:25,28:53:99:770,0,793	18	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,26:89:58:.:.:58,0,1354:.	7	0	11	1
chr8	29099198	29099198	G	A	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon36:c.C4259T:p.S1420F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.109871680792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.022	0.57587	D	.	.	.	.	.	.	0.184518	0.17013	N	0.603497	0.999941	0.81001	D	1.74	0.45129	L	-1.19	0.83578	T	-1.58	0.38151	N	0.445	0.48319	0.106	0.84276	D	0.559	0.83947	D	10	0.725751	0.73961	D	0.109872	0.78703	D	0.604	0.84398	0.433	0.48336	0.914687422619	0.91382	0.40732106200124585	0.40648	0.80672074353	0.66509	0.465060651302	0.34003	T	0.106451	0.41780	T	0.235812	0.77267	D	0.100951	0.76971	D	0.907219529151917	0.56144	D	0.845915	0.54691	T	0.09905698	0.23373	0.08519688	0.19655	0.09905698	0.23372	0.08519688	0.19654	-5.417	0.41083	T	.	.	0.108	0.46551	B	.;.	.;.	3.708111	0.52926	23.3	0.99709867231401594	0.81283	0.97739	0.76783	D	AEFI	0.547661	0.56127	D	0.54364048066218	0.69695	5.393751	0.53822504182888	0.70582	5.526473	0.859008897815135	0.25189	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	5.315000	0.65594	9.787000	0.81627	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.473000	0.28408	0.0772:0.0:0.9228:0.0	12.505	0.55319	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	434.33	33	chr8	29099198	.	G	A	434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=677;ExcessHet=0;FS=10.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-1.108;SOR=1.967	GT:AD:DP:GQ:PL	0/1:37,19:56:99:448,0,893	18	0	1	0
chr8	36845602	36845602	C	A	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon17:c.C1726A:p.P576T	.	427	1091	4	0	0	4	0.00182983	.	.	.	2821020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00771396651818	0.0052	0.000599042	0.0039	0.0013	0.0006	0	0.0049	0.0057	0.0022	0.0020	0.0038033	588	154602	rs61744028	0.0055	0.0057	0.0056	0.0055	0.0065	0.0054	0.0054	0.0063	0.0063	0.0008	0.0009	0.0026	0	0.0056	0.0003	0.0065	0.0057	0.0018	0.0040	0.0040	0.0043	0.0036	0.0070	0.0037	0.0036	0.0064	0.0062	0.0011	0	0.0014	0.0020	0	0.0037	0	0.0070	0.0028	0.0014	0.206	0.19927	T	0.539	0.09795	T	0.005	0.12996	B	0.004	0.10090	B	0.386416	0.13317	U	0.525022	0.999645	0.20796	N	1.2	0.30300	L	1.5	0.31205	T	-0.74	0.20791	N	0.168	0.17828	-1.0939	0.04914	T	0.043	0.18659	T	10	0.0057611465	0.00128	T	0.007714	0.20457	T	0.022	0.04323	.	.	0.18995819373	0.18626	0.20986701229392576	0.20902	0.023581478568	0.02391	0.245560258627	0.03315	T	0.085759	0.37574	T	-0.606679	0.00133	T	-0.639523	0.09704	T	0.00017556107292076	0.00001	T	0.50475	0.15921	T	0.054020192	0.10307	0.03817296	0.03628	0.054020192	0.10306	0.03817296	0.03628	-6.452	0.49914	T	.	.	0.088	0.11558	B	.	.	-0.204050	0.03070	0.479	0.82144141032705553	0.14041	0.08881	0.14742	N	AEFI	0.054166	0.09825	N	-0.821215385400882	0.12768	0.6245524	-0.783944031127528	0.14888	0.7802858	1.39099893261654E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.53	1.29	0.20717	-0.527000	0.06287	1.444000	0.26551	-0.111000	0.15049	0.002000	0.15269	0.015000	0.20450	0.059000	0.15899	0.0:0.325:0.3057:0.3693	8.502	0.32324	816	0.41767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1317.33	34	chr8	36845602	.	C	A	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.829;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.125;SOR=0.693	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1331,0,1270	18	0	1	0
chr8	37697800	37697800	A	G	exonic	ZNF703	.	nonsynonymous SNV	ZNF703:NM_025069:exon2:c.A899G:p.K300R	.	422	1099	1	0	0	1	0.000454752	.	.	.	2348239	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.50715003842	.	0.000399361	0.0007	0	0	0	0	0.0004	0	0.0009	0.0003363	52	154602	rs201791294	0.0008	0.0008	0.0008	0.0008	0.0012	0.0008	0.0008	0.0010	0.0009	3.262e-05	0.0003	0	0	0.0094	0	0.0006	0.0006	0.0012	0.0011	0.0011	0.0007	0.0014	0.0010	0.0009	0.0009	0.0008	0.0008	9.634e-05	0	0.0001	0	0.0002	0.0076	0	0.0010	0.0005	0.0006	0.07	0.35349	T	0.197	0.27855	T	0.945	0.53279	P	0.473	0.46845	P	0.000000	0.84330	D	0.000000	0.999698	0.48338	D	1.865	0.49290	L	0.6	0.53731	T	-1.63	0.39119	N	0.309	0.34874	-0.9478	0.41347	T	0.152	0.48049	T	10	0.008105904	0.00184	T	0.50715	0.95244	D	0.114	0.32008	0.178	0.08503	0.559773648941	0.55639	0.64010401207246	0.63945	.	.	0.930558383465	0.99019	D	0.091588	0.38827	T	-0.444806	0.01212	T	-0.418186	0.31283	T	0.0478095508842722	0.05110	T	0.970203	0.89274	D	0.15552765	0.35147	0.21442416	0.45992	0.15552765	0.35147	0.21442416	0.45991	-5.846	0.44973	T	.	.	0.137	0.29914	B	.	.	3.487223	0.48728	22.7	0.99683847862264729	0.79440	0.79112	0.39141	D	AEFDBHCIJ	0.658513	0.62976	D	0.153765772175526	0.48989	3.104572	0.122371936331087	0.45695	2.828155	0.999999997238388	0.74766	0.493124	0.18060	0	0.563428	0.19063	0	0.503968	0.08637	0	0.627883	0.49187	0	.	.	4.35	3.17	0.35510	3.302000	0.51557	10.902000	0.84143	0.626000	0.51810	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8461:0.0:0.0:0.1539	9.834	0.40129	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	.	.	.	.	.	.	.	.	0.02632	685.33	39	chr8	37697800	.	A	G	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.383;DP=728;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.832;SOR=0.962	GT:AD:DP:GQ:PL	0/1:36,29:65:99:699,0,1127	18	0	1	0
chr8	38163713	38163713	C	T	exonic	LSM1	.	nonsynonymous SNV	LSM1:NM_014462:exon4:c.G359A:p.R120Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0253123226742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917561702	7.525e-06	7.524e-06	5.445e-06	9.625e-06	9.892e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.072	0.43344	T	1.0	0.90584	D	0.92	0.65550	D	0.000003	0.62929	D	0.061343	1	0.81001	D	1.875	0.49914	L	.	.	.	-2.88	0.60507	D	0.65	0.66101	-0.2995	0.74999	T	0.426	0.76963	T	9	0.6038947	0.67065	D	0.025312	0.48284	D	0.237	0.54074	0.346	0.34112	0.629560987919	0.62653	0.5558649004231646	0.55513	1.06520644226	0.76608	0.654107689857	0.60569	T	0.215102	0.57688	T	0.0860038	0.62736	D	-0.114238	0.62272	T	0.975616812705994	0.71012	D	0.948505	0.80194	D	0.17409334	0.38194	0.20549415	0.44721	0.17409334	0.38194	0.20549415	0.44720	-8.148	0.62074	D	.	.	0.245	0.47986	B	.	.	4.543602	0.71441	25.7	0.99937070804705985	0.99661	0.99308	0.94281	D	AEFBI	0.881763	0.80937	D	0.637662438192612	0.75573	6.329859	0.570660074026016	0.72845	5.874637	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.810000	0.84617	7.657000	0.64017	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.406000	0.26916	0.0:1.0:0.0:0.0	20.302	0.98618	117	0.95266	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	734.33	35	chr8	38163713	.	C	T	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.647;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.852;SOR=0.589	GT:AD:DP:GQ:PL	0/1:26,29:55:99:748,0,626	18	0	1	0
chr8	39610551	39610551	A	C	exonic	ADAM18	.	nonsynonymous SNV	ADAM18:NM_001190956:exon6:c.A367C:p.I123L,ADAM18:NM_001320313:exon6:c.A367C:p.I123L,ADAM18:NM_014237:exon6:c.A367C:p.I123L	.	494	1025	3	0	0	3	0.00146128	.	.	.	2821050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0032	0.00439297	0.0017	0.0077	0.0041	0	0	0.0011	0.0022	0.0001	0.0016623	257	154602	rs139114737	0.0012	0.0013	0.0013	0.0012	0.0077	0.0012	0.0012	0.0070	0.0067	0.0077	0.0058	0.0044	0	3.75e-05	0.0067	0.0009	0.0030	0.0002	0.0044	0.0044	0.0043	0.0044	0.0135	0.0041	0.0040	0.0120	0.0114	0.0080	0	0.0135	0.0049	0	0	0.0374	0.0011	0.0095	0.0008	0.027	0.48642	D	0.041	0.50514	D	0.161	0.28372	B	0.292	0.40739	B	0.521007	0.11741	N	0.750320	1	0.28409	N	1.175	0.29870	L	3.43	0.05440	T	-1.82	0.43524	N	0.313	0.39153	-0.9235	0.45070	T	0.012	0.04510	T	10	0.0068491697	0.00156	T	.	.	.	0.070	0.20419	.	.	0.104622674875	0.10061	0.33679324606775685	0.33592	0.0203480443354	0.02001	0.349788963795	0.17891	T	0.004423	0.03828	T	-0.601286	0.00143	T	-0.630791	0.10354	T	0.00442293320435735	0.00047	T	.	.	.	0.12853004	0.30046	0.109777346	0.26461	0.12853004	0.30046	0.109777346	0.26461	-4.34	0.32272	T	.	.	0.106	0.28693	B	.;.;.	.;.;.	0.715609	0.10848	7.524	0.88228436428169077	0.17814	0.06743	0.12765	N	AEI	0.068355	0.13481	N	-1.44555611688112	0.02252	0.09923785	-1.46882649342903	0.02604	0.1200393	1.40613444541967E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	-3.75	0.04087	-0.316000	0.08112	-0.448000	0.09117	-0.552000	0.04894	0.029000	0.20367	0.000000	0.08366	0.095000	0.18041	0.5203:0.0:0.3672:0.1125	6.780	0.22825	867	0.32089	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	0	0	0	1	0	1	0	0.012614	0.051020	0.016304	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	966.33	35	chr8	39610551	.	A	C	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=697;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.103;SOR=0.453	GT:AD:DP:GQ:PL	0/1:36,38:74:99:980,0,979	18	0	1	0
chr8	54459229	54459229	C	T	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.C479T:p.A160V	Vesicoureteral reflux 3, Autosomal dominant	2	1476	44	0	0	44	0.0146862	.	.	.	711581	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.282	.	0.0024	0.00119808	0.0096	0.0011	0.0038	0	0.0042	0.0119	0.0177	0.0117	0.0038227	591	154602	rs200011294	0.0059	0.0057	0.0056	0.0061	0.0112	0.0058	0.0057	0.0106	0.0104	0.0008	0.0015	0.0078	2.965e-05	0.0028	0.0082	0.0060	0.0062	0.0112	0.0038	0.0038	0.0041	0.0035	0.0079	0.0035	0.0034	0.0059	0.0053	0.0011	0	0.0019	0.0075	0.0002	0.0024	0.0137	0.0059	0.0028	0.0079	0.165	0.23271	T	0.212	0.26549	T	0.003	0.11197	B	0.004	0.10090	B	0.056805	0.22530	N	0.459900	0.941068	0.26790	N	1.65	0.42232	L	-4.31	0.97195	D	-1.62	0.38924	N	0.088	0.06587	-0.1919	0.77880	T	0.696	0.89514	D	10	0.0062076747	0.00140	T	.	.	.	0.282	0.59981	.	.	0.612969470845	0.60985	0.3042132094351527	0.30334	0.994442852955	0.74171	0.781738877296	0.79190	T	0.497817	0.81953	T	-0.386289	0.02842	T	-0.318259	0.42765	T	0.00651151177596151	0.00073	T	0.661834	0.27067	T	0.03865075	0.05189	0.0676886	0.14038	0.040026456	0.05637	0.0676886	0.14038	-6.272	0.48500	T	0.2399140830995001	0.32497	0.103	0.18456	B	.	.	1.875178	0.23817	16.16	0.98841066517633036	0.47119	0.87261	0.46747	D	AEFDBHCI	0.637359	0.61617	D	-0.786852546135638	0.13652	0.6740818	-0.676008962276269	0.17561	0.9343258	0.999999669968903	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	3.93	2.03	0.25714	1.542000	0.35742	3.048000	0.36109	-0.384000	0.05376	0.008000	0.17931	0.995000	0.32472	0.769000	0.36481	0.1588:0.5981:0.1542:0.0889	4.299	0.10359	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	0	0	1	0	0.009137	0.005319	0.008197	0.002924	0.000000	0.008621	0.012422	0.019084	0.02632	785.33	33	chr8	54459229	.	C	T	785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.67;DP=719;ExcessHet=0;FS=4.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.653;SOR=1.247	GT:AD:DP:GQ:PL	0/1:49,33:82:99:799,0,1304	18	0	1	0
chr8	58659243	58659243	C	A	exonic	NSMAF	.	nonsynonymous SNV	NSMAF:NM_001144772:exon1:c.G104T:p.G35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00536975311703	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1295436453	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.5	0.55608	T	0.5	0.02945	N	0.114	0.10198	-1.0462	0.15476	T	0.057	0.23866	T	8	0.059512615	0.07164	T	0.00537	0.13771	T	0.035	0.08770	0.233	0.16155	0.0884992946249	0.08302	0.14533580708851881	0.14456	0.902901504755	0.70704	0.695582270622	0.66506	T	.	.	.	-0.191576	0.22026	T	-0.512962	0.21010	T	0.422971785068512	0.29800	T	0.429357	0.11628	T	.	.	.	.	.	.	.	.	-4.559	0.31652	T	.	.	0.119	0.24599	B	.	.	0.616843	0.09851	6.615	0.98239798591720962	0.39467	0.01477	0.04919	N	AEFDBHCIJ	0.038700	0.05515	N	-1.47533841414821	0.02025	0.089001	-1.54714518106468	0.01995	0.09116801	0.999999999882408	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	1.7	-1.58	0.08029	-0.393000	0.07366	-0.380000	0.09547	-0.387000	0.05364	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.2591:0.3814:0.0:0.3595	2.018	0.03289	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	233.33	21	chr8	58659243	.	C	A	233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=524;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.853;SOR=0.665	GT:AD:DP:GQ:PL	0/1:12,9:21:99:247,0,349	18	0	1	0
chr8	66444705	66444705	T	-	exonic	ADHFE1	.	frameshift deletion	ADHFE1:NM_144650:exon5:c.310delT:p.F104Lfs*7	.	428	1074	18	2	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0025	0	0.0006	0	0	0.0002	0.0011	0.0168	0.0020375	315	154602	rs567577128	0.0012	0.0012	0.0007	0.0017	0.0176	0.0011	0.0011	0.0168	0.0165	5.974e-05	0.0004	0.0007	0	0	0.0045	8.363e-05	0.0010	0.0176	0.0007	0.0007	0.0004	0.0010	0.0170	0.0006	0.0005	0.0140	0.0129	2.405e-05	0	0.0004	0.0014	0	0	0	7.349e-05	0.0005	0.0170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.007576	0.05263	5173.79	33	chr8	66444704	.	CT	C	5173.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.722;DP=973;ExcessHet=0.119;FS=5.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.262;SOR=0.965	GT:AD:DP:GQ:PL	0/1:85,80:165:99:2358,0,2520	17	0	2	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, 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	.	.	.	.	.	.	.	.	0.1667	665.25	64	chr8	67267206	.	T	G	665.25	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-4.209;DP=1722;ExcessHet=0.7564;FS=168.069;InbreedingCoeff=-0.2463;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.52;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,33:139:31:.:.:31,0,1901:.	8	0	4	7
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.010101	0.012228	0.020468	0.000000	0.000000	0.018293	0.030303	0.02632	2266.33	33	chr8	72937418	.	A	G	2266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.537;DP=913;ExcessHet=0;FS=5.85;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.703;SOR=0.553	GT:AD:DP:GQ:PL	0/1:66,92:158:99:2280,0,1884	18	0	1	0
chr8	76851866	76851866	A	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.A4945T:p.M1649L	.	0	1497	25	0	0	25	0.00828089	.	.	.	3214881	ZFHX4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.073	0.00467508426032	0.0002	0.000599042	0.0006	0	0	0.0001	0	0.0003	0.0022	0.0030	0.0005304	82	154602	rs371012847	0.0003	0.0003	0.0003	0.0004	0.0049	0.0003	0.0003	0.0034	0.0030	5.974e-05	2.236e-05	0	0	0	0.0049	0.0002	0.0006	0.0025	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	6.54e-05	0	0	0	0.0034	0.0004	0.0014	0.0027	0.754	0.05137	T	0.356	0.17166	T	.	.	.	.	.	.	0.001606	0.38497	U	0.115400	0.995519	0.24976	N	.	.	.	0.85	0.47130	T	-0.8	0.22078	N	0.315	0.35514	-1.0279	0.21136	T	0.069	0.28379	T	10	0.008215785	0.00186	T	0.004675	0.11597	T	0.073	0.21317	.	.	0.220282294035	0.21616	0.09727442859640135	0.09658	0.154209764161	0.17409	0.471081703901	0.34830	T	.	.	.	-0.471976	0.00826	T	-0.455353	0.27106	T	0.02214161636101	0.00925	T	0.670133	0.27879	T	.	.	.	.	.	.	.	.	-1.775	0.02436	T	.	.	0.084	0.09530	B	.;.;.	.;.;.	1.552224	0.19892	14.49	0.71654920249107767	0.09703	0.95705	0.65805	D	AEFBI	0.552004	0.56384	D	-0.478754030643267	0.22778	1.218672	-0.332646812023577	0.27050	1.498374	0.900540664753922	0.26078	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.41	1.88	0.24630	2.428000	0.44406	3.909000	0.40397	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7754:0.1464:0.0782:0.0	7.198	0.25038	800	0.44535	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.017241	0.009146	0.003788	0.02632	2293.33	43	chr8	76851866	.	A	T	2293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.805;DP=784;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=-1.809;SOR=0.924	GT:AD:DP:GQ:PL	0/1:63,76:139:99:2307,0,1709	18	0	1	0
chr8	85113065	85113066	AG	-	exonic	LRRCC1	.	frameshift deletion	LRRCC1:NM_001349636:exon3:c.231_232del:p.D78Wfs*4,LRRCC1:NM_001349637:exon3:c.42_43del:p.D15Wfs*4,LRRCC1:NM_033402:exon4:c.510_511del:p.D171Wfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1734.29	33	chr8	85113064	.	AAG	A	1734.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.292;DP=716;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.12;ReadPosRankSum=0.205;SOR=0.429	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1748,0,1169	18	0	1	0
chr8	98157911	98157911	G	T	exonic	POP1	.	nonsynonymous SNV	POP1:NM_001145860:exon16:c.G2715T:p.R905S,POP1:NM_001145861:exon16:c.G2715T:p.R905S,POP1:NM_015029:exon16:c.G2715T:p.R905S	Anauxetic dysplasia 2, Autosomal recessive	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00799448243859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.024	0.56640	D	0.116	0.26475	B	0.025	0.20508	B	0.000054	0.53742	D	0.160503	0.894284	0.27824	N	0	0.06538	N	2.48	0.14657	T	-1.44	0.35399	N	0.126	0.13626	-1.0174	0.24560	T	0.017	0.07045	T	10	0.093334675	0.16508	T	0.007994	0.21188	T	0.021	0.04004	0.312	0.28612	0.358744678677	0.35482	0.30577009373640196	0.30490	0.239339673074	0.26486	0.326010525227	0.14331	T	0.016156	0.13408	T	-0.239432	0.15421	T	-0.581704	0.14394	T	0.811327517032623	0.47142	D	0.760924	0.38541	T	0.5620994	0.70626	0.255363	0.51218	0.5620994	0.70627	0.255363	0.51217	-7.321	0.56345	T	.	.	0.589	0.68416	P	.;.	.;.	3.268920	0.44742	22.0	0.99175161448792748	0.54498	0.95249	0.63992	D	AEFBI	0.460867	0.51087	N	-0.298972687245619	0.29188	1.61643	-0.0836138994512366	0.36067	2.094291	0.999999575430257	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.67	4.78	0.60666	2.017000	0.40600	5.814000	0.50030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1641:0.0:0.8359:0.0	9.404	0.37614	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1852.33	33	chr8	98157911	.	G	T	1852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.566;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.274;SOR=0.722	GT:AD:DP:GQ:PL	0/1:70,69:139:99:1866,0,2122	18	0	1	0
chr8	120517852	120517852	C	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon19:c.C2248T:p.L750F	.	434	1060	27	1	0	29	0.0134946	0.0213	0.172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0082	0.00539137	0.0081	0.0022	0.0048	0.0001	0.0020	0.0094	0.0067	0.0150	0.0079624	1231	154602	rs61753798	0.0097	0.0099	0.0096	0.0099	0.0132	0.0096	0.0096	0.0126	0.0123	0.0017	0.0057	0.0032	5.046e-05	0.0025	0.0092	0.0108	0.0081	0.0132	0.0068	0.0068	0.0068	0.0068	0.0114	0.0065	0.0063	0.0103	0.0101	0.0019	0	0.0064	0.0032	0.0002	0.0024	0.0136	0.0110	0.0081	0.0114	0.107	0.29554	T	0.13	0.34716	T	0.36	0.33860	B	0.139	0.33484	B	0.000226	0.47286	N	0.144353	0.999576	0.47641	D	2.545	0.74286	M	.	.	.	-1.96	0.45404	N	0.142	0.14196	-0.9822	0.34491	T	0.106	0.38611	T	9	0.0057896674	0.00129	T	.	.	.	0.036	0.09122	.	.	0.640041731404	0.63707	0.2528034314553507	0.25194	0.201326276818	0.22533	0.379101604223	0.22130	T	0.219499	0.58253	T	-0.528778	0.00390	T	-0.518704	0.20425	T	0.015199612315482	0.00333	T	0.785621	0.42343	T	0.08627172	0.20047	0.104997456	0.25231	0.08627172	0.20047	0.104997456	0.25230	-4.534	0.31330	T	.	.	0.094	0.14293	B	.	.	2.493602	0.32177	18.96	0.99774697825411618	0.86260	0.80009	0.39764	D	AEFBI	0.156271	0.28160	N	-0.148636852762372	0.35292	2.025314	-0.0770798766117348	0.36340	2.113589	0.00706565440859107	0.11376	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	2.7	0.31007	0.684000	0.25043	0.812000	0.21762	0.599000	0.40250	0.972000	0.34453	0.879000	0.27682	0.837000	0.39485	0.1233:0.6823:0.0:0.1944	7.558	0.27000	686	0.59327	MDN2-binding protein, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.008152	0.005848	0.000000	0.000000	0.006098	0.015152	0.02632	827.33	78	chr8	120517852	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.523;DP=1177;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.323;SOR=0.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,32:72:99:0|1:120517821_C_T:841,0,1069:120517821	18	0	1	0
chr8	122952160	122952160	G	A	exonic	ZHX2	.	nonsynonymous SNV	ZHX2:NM_014943:exon3:c.G650A:p.R217H,ZHX2:NM_001362797:exon4:c.G650A:p.R217H	.	.	.	.	.	.	.	.	.	.	.	2204111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00604945582058	.	.	1.65e-05	0	0	0.0001	0	0	0	6.057e-05	1.29e-05	2	154602	rs756368144	2.805e-05	2.805e-05	3.403e-05	2.2e-05	0.0003	2.087e-05	1.878e-05	6.092e-05	3.758e-05	0.0001	0	3.827e-05	0	0	0.0003	2.608e-05	3.312e-05	2.319e-05	5.295e-05	5.262e-05	5.169e-05	5.428e-05	0.0001	2.574e-05	1.842e-05	4.783e-05	3.083e-05	0.0001	0	6.599e-05	0	0	0	0	2.948e-05	0	0	0.033	0.44358	D	0.131	0.34596	T	0.033	0.20350	B	0.008	0.13708	B	0.012894	0.29020	N	0.385180	0.921802	0.36700	D	1.355	0.33814	L	2.18	0.18875	T	-0.77	0.21429	N	0.146	0.14763	-1.0886	0.05770	T	0.047	0.20156	T	10	0.11381698	0.21394	T	0.006049	0.15816	T	0.033	0.08068	0.349	0.34598	0.386721274199	0.38283	0.35432362145816915	0.35346	0.32880603213	0.34991	0.417994558811	0.27562	T	0.065377	0.32673	T	-0.260422	0.12851	T	-0.430326	0.29898	T	0.144635915756226	0.16668	T	0.682032	0.29067	T	0.054181956	0.10359	0.045769773	0.06232	0.054181956	0.10359	0.045769773	0.06231	-3.486	0.16237	T	.	.	0.067	0.02428	B	.	.	3.298510	0.45273	22.1	0.99893070132894013	0.96666	0.90153	0.51108	D	AEFDGBI	0.357492	0.44850	N	-0.158344275433276	0.34882	1.996618	0.0106763926863388	0.40209	2.396061	0.999827725958263	0.43622	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.63	4.75	0.59954	1.387000	0.34037	4.543000	0.43772	0.590000	0.31872	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0737:0.0:0.9263:0.0	13.839	0.62925	953	0.10115	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2390.33	34	chr8	122952160	.	G	A	2390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=988;ExcessHet=0;FS=2.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.292;SOR=0.968	GT:AD:DP:GQ:PL	0/1:78,80:158:99:2404,0,1927	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:101,33:144:29:29,0,1571	4	0	12	3
chr8	142664605	142664605	A	G	exonic	JRK	.	nonsynonymous SNV	JRK:NM_001077527:exon2:c.T1454C:p.V485A,JRK:NM_001279352:exon2:c.T1454C:p.V485A,JRK:NM_003724:exon2:c.T1454C:p.V485A	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.878e-06	0	0	0	0	1.753e-05	0	0	1.94e-05	3	154602	rs782474051	3.705e-05	3.762e-05	2.321e-05	5.105e-05	0.0009	2.903e-05	2.6e-05	0.0003	0.0002	0	2.248e-05	0	0	0	0.0009	3.961e-05	6.635e-05	0	2.632e-05	2.628e-05	0	5.388e-05	6.547e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.547e-05	0	0	9.443e-05	0	2.943e-05	0	0	.	.	.	1.0	0.02447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.53	0.30401	T	.	.	.	0.023	0.04668	.	.	.	.	.	.	.	0.06420535	0.08481	T	.	.	.	.	.	.	.	0.366848117066	0.36290	0.1965429580672276	0.19571	.	.	0.401578873396	0.25289	T	.	.	.	-0.394527	0.02514	T	-0.638631	0.09769	T	.	.	.	0.266973	0.04402	T	0.018116843	0.00334	0.062648326	0.12288	0.018116843	0.00334	0.062648326	0.12287	-4.365	0.32484	T	.	.	0.055	0.00847	B	.;.;.;.	.;.;.;.	-0.450839	0.02030	0.183	0.8137947875727426	0.13656	0.00404	0.02015	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999905274962746	0.45458	0.256867	0.04430	0	0.271743	0.05004	0	0.254355	0.05125	0	0.221052	0.04502	0	0.0662382	0.15782	3.61	0.604	0.16725	-0.165000	0.09957	-0.805000	0.07358	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2476:0.211:0.5415:0.0	3.593	0.07543	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.000000	0.008876	0.000000	0.000000	0.003067	0.003788	0.02632	960.33	44	chr8	142664605	.	A	G	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=743;ExcessHet=0;FS=1.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.17;SOR=0.552	GT:AD:DP:GQ:PL	0/1:43,41:84:99:974,0,1045	18	0	1	0
chr8	143538164	143538164	C	G	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G1203C:p.K401N	.	393	1085	41	3	0	47	0.0211998	.	.	.	1671780	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0040	0.00239617	0.0044	0.0010	0.0035	0	0.0006	0.0063	0.0078	0.0028	0.0043984	680	154602	rs145312531	0.0050	0.0050	0.0050	0.0050	0.0161	0.0049	0.0049	0.0135	0.0125	0.0008	0.0032	0.0108	2.519e-05	0.0005	0.0161	0.0055	0.0049	0.0032	0.0042	0.0042	0.0045	0.0039	0.0061	0.0040	0.0039	0.0057	0.0055	0.0008	0.0912	0.0029	0.0110	0	0.0003	0.0102	0.0061	0.0080	0.0015	0.001	0.78490	D	0.215	0.26306	T	0.651	0.40707	P	0.198	0.36766	B	0.146865	0.18099	N	0.533225	1	0.08975	N	1.975	0.53506	M	3.81	0.03754	T	-1.55	0.37566	N	0.261	0.29544	-1.0261	0.21723	T	0.012	0.04510	T	10	0.0025629401	0.00039	T	.	.	.	0.070	0.20419	0.132	0.03662	0.043077524339	0.03247	0.19101010069573193	0.19019	.	.	0.350995391607	0.18068	T	0.029869	0.21306	T	-0.632085	0.00093	T	-0.676997	0.07168	T	0.0164832262250993	0.00413	T	0.735226	0.35154	T	0.13179666	0.30709	0.11634667	0.28087	0.13179666	0.30709	0.11634667	0.28087	-5.937	0.45749	T	.	.	0.379	0.58369	A	.	.	2.450788	0.31553	18.78	0.99737924929366029	0.83264	0.37660	0.25812	N	AEFGBCI	0.097974	0.19752	N	-0.183606738135059	0.33816	1.922929	-0.223506323144549	0.30694	1.730533	0.999950641709415	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	2.58	0.30011	0.536000	0.22838	.	.	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.798000	0.37648	0.0:0.7414:0.0:0.2586	9.487	0.38102	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	0	0	1	0	0.012588	0.000000	0.019022	0.008772	0.000000	0.000000	0.015244	0.015152	0.1316	4663.35	42	chr8	143538164	.	C	G	4663.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.343;DP=874;ExcessHet=0.0506;FS=0.931;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.338;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,42:77:99:.:.:1054,0,873:.	15	1	3	0
chr8	143707077	143707077	C	T	exonic	CCDC166	.	nonsynonymous SNV	CCDC166:NM_001162914:exon2:c.G937A:p.V313M	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.000199681	0.0039	0	0	0	0	0.0126	0	0.0011	0.0005045	78	154602	rs550230095	0.0013	0.0012	0.0013	0.0013	0.0027	0.0013	0.0012	0.0017	0.0013	6.395e-05	0.0014	0.0169	0	0.0002	0.0027	0.0010	0.0026	0.0007	0.0013	0.0013	0.0013	0.0013	0.0019	0.0011	0.0011	0.0014	0.0012	0.0002	0	0.0019	0.0161	0	0	0.0137	0.0014	0.0010	0.0002	0.214	0.19361	T	0.026	0.55759	D	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	.	.	.	-0.32	0.12283	N	0.036	0.01068	-1.0347	0.18951	T	0.058	0.24242	T	8	0.002822101	0.00045	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.06476136050439223	0.06415	.	.	0.542966485023	0.44865	T	0.002885	0.02278	T	-0.616971	0.00115	T	-0.672242	0.07465	T	0.0257512569039736	0.01373	T	0.439156	0.12095	T	0.029703448	0.02508	0.053213052	0.08918	0.029703448	0.02508	0.053213052	0.08918	-4.93	0.36071	T	.	.	0.104	0.19032	B	.	.	0.224233	0.06063	2.505	0.96856708232205846	0.31365	0.03870	0.09234	N	AEFDBCI	0.041409	0.06292	N	-1.28544525554201	0.03850	0.172726	-1.34125014427368	0.03910	0.1833591	0.984836030559956	0.30783	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.03	-1.85	0.07363	-0.255000	0.08789	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4315:0.1571:0.4114	6.609	0.21936	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004399	0.000000	0.000000	0.014563	0.000000	0.000000	0.000000	0.000000	0.07895	4718.77	34	chr8	143707077	.	C	T	4718.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.81;DP=807;ExcessHet=0;FS=0.706;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.08;ReadPosRankSum=0.323;SOR=0.809	GT:AD:DP:GQ:PL	0/1:41,53:94:99:1492,0,1029	17	1	1	0
chr8	143859216	143859216	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G14038A:p.G4680S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339103457	6.461e-05	8.256e-05	7.465e-05	5.509e-05	0.0011	4.02e-05	3.29e-05	0.0005	0.0004	0.0011	0	0	0	0	0	4.309e-05	0.0001	0	0.0001	0.0003	0.0001	0.0002	0.0005	9.813e-05	8.317e-05	0.0003	0.0003	0.0005	0	6.587e-05	0	0	0	0	1.476e-05	0	0	.	.	.	0.681	0.06128	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.04426	.	.	.	.	.	.	.	0.036958247	0.02022	T	.	.	.	.	.	.	.	.	.	0.11324030430350611	0.11252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306769	0.05902	T	.	.	.	.	.	.	.	.	-6.833	0.52804	T	.	.	0.075	0.05317	B	.;.	.;.	-0.170149	0.03246	0.548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.712000	0.00070	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	.	.	.	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.64	8	chr8	143859216	.	C	T	92.64	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=215;ExcessHet=0;FS=0;InbreedingCoeff=-0.0427;MLEAC=1;MLEAF=0.026;MQ=43.57;MQRankSum=-3.588;QD=6.62;ReadPosRankSum=-1.471;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,6:14:99:106,0,156	18	0	1	0
chr8	143925059	143925059	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C4828T:p.R1610C,PLEC:NM_201379:exon31:c.C4804T:p.R1602C,PLEC:NM_201380:exon31:c.C5281T:p.R1761C,PLEC:NM_201381:exon31:c.C4774T:p.R1592C,PLEC:NM_201382:exon31:c.C4870T:p.R1624C,PLEC:NM_201383:exon31:c.C4882T:p.R1628C,PLEC:NM_201384:exon31:c.C4870T:p.R1624C,PLEC:NM_000445:exon32:c.C4951T:p.R1651C	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	491388	not_specified|not_provided|Inborn_genetic_diseases|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.405	0.588818851652	.	.	6.108e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs782663079	3.955e-05	4.104e-05	4.265e-05	3.638e-05	8.728e-05	3.111e-05	2.791e-05	4.019e-05	2.824e-05	3.144e-05	0	0	8.306e-05	0	0	3.693e-05	6.891e-05	8.728e-05	2.635e-05	2.63e-05	2.576e-05	2.697e-05	4.416e-05	8.16e-06	5.15e-06	1.172e-05	6.25e-06	2.424e-05	0	0	0	0	0	0	4.416e-05	0	0	0.01	0.59928	D	0.007	0.72224	D	1.0	0.90584	D	0.992	0.86255	D	0.000023	0.55875	U	0.000000	0.999997	0.58761	D	2.62	0.76659	M	-1.3	0.80983	T	-2.75	0.59545	D	0.627	0.67477	0.314	0.87775	D	0.637	0.87317	D	10	0.6821116	0.71342	D	0.588819	0.96341	D	0.405	0.71791	0.18	0.08751	0.762374762484	0.76020	0.5906601456595366	0.58996	.	.	0.855174481869	0.90393	D	0.401956	0.75912	T	-0.0465483	0.44969	T	-0.0303402	0.68347	D	0.305784380321109	0.25241	T	0.998	0.99100	D	0.19153789	0.40785	0.08736243	0.20302	0.19153789	0.40785	0.08736243	0.20301	-10.794	0.78516	D	0.7289092363660911	0.81049	0.546	0.66601	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.887039	0.80198	27.3	0.99422019275229701	0.63838	0.91837	0.54370	D	AEFDGBCI	0.699441	0.65679	D	0.41997544465555	0.62520	4.469345	0.301164039778683	0.55609	3.72372	0.999999999892568	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	4.71	0.59010	3.546000	0.53409	.	.	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0:0.8316:0.1684	12.400	0.54743	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3460.77	54	chr8	143925059	.	G	A	3460.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.91;DP=1042;ExcessHet=0;FS=3.292;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.47;ReadPosRankSum=2.59;SOR=0.455	GT:AD:DP:GQ:PL	0/1:41,31:72:99:850,0,951	17	1	1	0
chr8	144416027	144416027	G	A	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_017767:exon1:c.C182T:p.P61L,SLC39A4:NM_130849:exon2:c.C257T:p.P86L	Acrodermatitis enteropathica, Autosomal recessive	0	1468	50	4	0	58	0.0193721	.	.	YES	304624	Hereditary_acrodermatitis_enteropathica|not_provided	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.0449013786341	0.0016	0.000998403	0.0021	0.0009	0.0019	0.0004	0	0.0024	0.0079	0.0028	0.001313	203	154602	rs187080747	0.0014	0.0014	0.0012	0.0015	0.0371	0.0013	0.0013	0.0330	0.0315	0.0012	0.0013	0.0140	0.0003	4.448e-05	0.0371	0.0008	0.0030	0.0031	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0008	0.0002	0	0.0014	0.0135	0.0004	0	0.0204	0.0011	0.0019	0.0010	0.032	0.44694	D	0.028	0.54934	D	0.002	0.09854	B	0.001	0.04355	B	0.000906	0.00708	N	3.794710	1	0.08975	N	1.32	0.33002	L	0.62	0.53302	T	-1.47	0.35991	N	0.089	0.15469	-1.0307	0.20227	T	0.058	0.24428	T	10	0.0048852265	0.00104	T	0.044901	0.61720	D	0.044	0.11924	.	.	0.300784259202	0.29686	0.4110761476787007	0.41023	0.130730633886	0.14752	0.433279931545	0.29657	T	0.046456	0.27431	T	-0.630726	0.00095	T	-0.682762	0.06816	T	0.00352813068109344	0.00037	T	0.580842	0.21027	T	0.03590363	0.04316	0.042633068	0.05121	0.034164343	0.03779	0.056370575	0.10059	-4.155	0.31869	T	.	.	0.119	0.24599	B	.;.	.;.	0.444568	0.08149	4.879	0.94716817475581216	0.25385	0.06751	0.12773	N	AEFBCI	0.096460	0.19473	N	-1.13734089852011	0.05990	0.2746098	-1.19798347222329	0.05943	0.2846568	0.999688670972249	0.41756	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.17	-1.59	0.08003	-1.747000	0.01926	-0.271000	0.10347	0.611000	0.49015	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0849:0.1347:0.3678:0.4126	3.545	0.07380	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	0.022796	0.010309	0.029973	0.055556	0.000000	0.017544	0.006173	0.007576	0.02632	1072.33	66	chr8	144416027	.	G	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.926;DP=1051;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.389;SOR=0.852	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1086,0,1528	18	0	1	0
chr9	2807860	2807860	G	C	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon17:c.C1768G:p.L590V	.	435	1086	1	0	0	1	0.000460193	.	.	.	2339417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.018292513745	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.7e-05	15	154602	rs201493570	7.801e-05	8.072e-05	6.4e-05	9.216e-05	0.0005	6.602e-05	6.144e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	2.52e-05	0	0.0005	6.116e-05	0.0002	0.0003	1.972e-05	1.97e-05	2.571e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.017	0.60337	D	0.782	0.44333	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	0.946822	0.37543	D	.	.	.	2.47	0.14783	T	-1.73	0.41046	N	0.593	0.61256	-1.0446	0.15942	T	0.059	0.24723	T	10	0.4792884	0.60334	T	0.018293	0.40304	T	0.211	0.50185	0.721	0.85585	0.0551355673512	0.04727	0.35909996705142294	0.35823	0.00447420915356	0.00396	0.493885040283	0.37979	T	0.017349	0.14172	T	-0.231104	0.16503	T	-0.277592	0.47050	T	0.0574609728249047	0.06763	T	0.875013	0.58582	D	0.44020528	0.63415	0.22844805	0.47887	0.44020528	0.63416	0.22844805	0.47886	-7.048	0.54383	T	.	.	0.158	0.34840	B	.	.	2.120741	0.26994	17.31	0.99391647996392574	0.62383	0.81371	0.40788	D	AEFBI	0.121217	0.23577	N	0.00712089959041916	0.42179	2.536518	-0.0259894089842602	0.38545	2.272439	0.999680922567867	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	1.53	0.22224	0.252000	0.18046	1.255000	0.25194	0.676000	0.76740	0.979000	0.35152	1.000000	0.68203	0.731000	0.35132	0.355:0.0:0.645:0.0	11.046	0.47078	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1354.33	33	chr9	2807860	.	G	C	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.458;DP=764;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.27;SOR=0.794	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1368,0,1831	18	0	1	0
chr9	18721583	18721583	C	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon15:c.C1924G:p.P642A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00336152058816	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs765996340	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.05183	T	0.746	0.04895	T	0.0	0.02946	B	0.001	0.04355	B	1.000000	0.07966	U	0.390143	0.861522	0.28348	N	-0.44	0.02835	N	0.24	0.59583	T	0.47	0.03955	N	0.322	0.36254	-0.9762	0.35860	T	0.072	0.29227	T	10	0.07460815	0.11427	T	0.003362	0.07512	T	0.104	0.29647	0.279	0.23323	0.385249989106	0.38142	0.11741613639691845	0.11669	0.0641064311591	0.07144	0.259634971619	0.04847	T	0.011504	0.10257	T	-0.18767	0.22600	T	-0.491866	0.23196	T	0.0549564808607101	0.06349	T	0.724428	0.33821	T	0.049926125	0.08942	0.045032814	0.05968	0.049926125	0.08941	0.045032814	0.05967	-2.98	0.17082	T	.	.	0.058	0.00647	B	.;.	.;.	2.147812	0.27353	17.43	0.68659948329414666	0.08727	0.73458	0.35932	D	AEFDBI	0.127720	0.24520	N	-0.357269224874569	0.27007	1.478337	-0.0832756747494827	0.36080	2.095286	0.999999035818382	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.86	4.89	0.63387	2.906000	0.48432	4.187000	0.42377	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.954000	0.50415	0.3167:0.5938:0.0:0.0895	6.746	0.22650	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	581.33	36	chr9	18721583	.	C	G	581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.014;SOR=0.735	GT:AD:DP:GQ:PL	0/1:41,23:64:99:595,0,1040	18	0	1	0
chr9	19296186	19296186	A	C	exonic	DENND4C	.	nonsynonymous SNV	DENND4C:NM_001330640:exon6:c.A980C:p.K327T,DENND4C:NM_017925:exon6:c.A980C:p.K327T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0117638043575	.	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs760363457	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.045312	0.999997	0.81001	D	.	.	.	2.63	0.12884	T	.	.	.	0.639	0.65159	-0.4555	0.70218	T	0.310	0.68003	T	9	0.5657069	0.65038	D	0.011764	0.29704	T	.	.	.	.	0.664764370891	0.66194	0.6953247861296378	0.69473	0.225390982773	0.25083	0.711486399174	0.68808	T	.	.	.	-0.019828	0.48878	T	-0.266258	0.48199	T	0.96762231295482	0.67970	D	0.922108	0.71672	D	0.49000803	0.66503	0.31411374	0.57405	0.49000803	0.66504	0.31411374	0.57404	-8.849	0.66798	D	.	.	0.235	0.58233	B	.;.	.;.	3.890978	0.56615	23.8	0.99754774968611815	0.84537	0.97715	0.76612	D	AEFBI	0.696167	0.65459	D	0.607589543708515	0.73654	6.001543	0.594033394424714	0.74510	6.149445	0.999999996130289	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	7.437000	0.79579	11.273000	0.91473	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.660	0.68467	609	0.67094	.;cDENN domain|Tripartite DENN domain|cDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1559.33	34	chr9	19296186	.	A	C	1559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.56;DP=763;ExcessHet=0;FS=2.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.982;SOR=0.985	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1573,0,1426	18	0	1	0
chr9	20881958	20881958	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon19:c.C2300T:p.A767V,FOCAD:NM_001375570:exon19:c.C2300T:p.A767V,FOCAD:NM_001375567:exon20:c.C2405T:p.A802V,FOCAD:NM_017794:exon22:c.C2405T:p.A802V	.	435	1085	2	0	0	2	0.00092081	.	.	.	3006662	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.037	0.00308836486452	0.0038	0.00219649	0.0032	0.0010	0.0006	0	0.0048	0.0047	0.0033	0.0013	0.0032988	510	154602	rs79849792	0.0043	0.0043	0.0043	0.0043	0.0050	0.0042	0.0042	0.0049	0.0049	0.0009	0.0007	0.0003	2.52e-05	0.0049	0.0003	0.0050	0.0034	0.0015	0.0032	0.0032	0.0033	0.0031	0.0057	0.0030	0.0029	0.0052	0.0051	0.0007	0	0.0009	0.0006	0	0.0041	0	0.0057	0.0033	0.0021	0.4	0.10482	T	1.0	0.01155	T	.	.	.	.	.	.	0.950673	0.07654	N	1.019870	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.71	0.20145	N	0.088	0.10198	-0.9264	0.44659	T	0.012	0.04558	T	10	0.0031612515	0.00053	T	0.003088	0.06696	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.2831463635393905	0.28227	0.00576713169931	0.00504	0.235915049911	0.02434	T	0.015573	0.13037	T	-0.759268	0.00015	T	-0.859686	0.00846	T	0.00128080978368973	0.00013	T	0.565643	0.19997	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.;.	.;.;.	0.554943	0.09233	6.017	0.93441065259456846	0.23218	0.04944	0.10704	N	AEFBI	0.040645	0.06074	N	-1.04558351606797	0.07675	0.3573183	-0.998740363505952	0.09813	0.4904374	0.663225487454854	0.22294	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	-0.624	0.10972	0.224000	0.17520	0.021000	0.13590	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.796000	0.37562	0.0:0.328:0.0:0.672	10.394	0.43374	564	0.70960	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	1197.33	35	chr9	20881958	.	C	T	1197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.984;DP=699;ExcessHet=0;FS=3.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.636;SOR=1.055	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1211,0,836	18	0	1	0
chr9	33466953	33466953	C	T	exonic	NOL6	.	nonsynonymous SNV	NOL6:NM_022917:exon15:c.G1909A:p.V637M,NOL6:NM_139235:exon15:c.G1909A:p.V637M	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0108225314448	0.0004	.	0.0002	0	0	0	0	0.0003	0	0	0.0001617	25	154602	rs147891900	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	2.987e-05	6.71e-05	0	0	0	0.0002	0.0007	0.0006	0.0002	0.0004	0.0004	0.0005	0.0002	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	6.541e-05	0	0	0	0	0.0007	0	0	0.083	0.33091	T	0.115	0.36630	T	0.041	0.21357	B	0.041	0.24256	B	0.908006	0.07397	N	1.038600	0.637248	0.31050	N	1.5	0.37844	L	0.92	0.44461	T	-1.23	0.31170	N	0.246	0.28732	-0.9498	0.41006	T	0.092	0.34983	T	10	0.08280507	0.13707	T	0.010823	0.27789	T	0.039	0.10176	.	.	0.258436476835	0.25460	.	.	0.21197876051	0.23697	0.336866974831	0.15968	T	0.018735	0.15049	T	-0.472982	0.00815	T	-0.599109	0.12886	T	0.0423054002981752	0.04110	T	0.820318	0.48050	T	0.06804596	0.14790	0.065660894	0.13339	0.06804596	0.14789	0.065660894	0.13338	-7.253	0.56238	T	.	.	0.098	0.19958	B	.;.;.	.;.;.	1.799244	0.22867	15.79	0.9822177577694341	0.39307	0.69723	0.34301	D	AEFGBHCI	0.078505	0.15840	N	-0.450642851361728	0.23718	1.275646	-0.343905477087891	0.26697	1.476372	0.999572130359	0.40495	0.631981	0.41245	0	0.577304	0.33150	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.73	0.96	0.18753	0.495000	0.22191	1.430000	0.26439	0.599000	0.40250	0.273000	0.25075	1.000000	0.68203	0.955000	0.50612	0.0:0.4682:0.0:0.5318	10.007	0.41133	575	0.70088	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1984.33	36	chr9	33466953	.	C	T	1984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.441;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PL	0/1:40,68:108:99:1998,0,1068	18	0	1	0
chr9	36170955	36170955	C	T	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.C1453T:p.R485W	.	429	1065	26	2	0	30	0.0138889	.	.	.	723568	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.234	.	0.0028	0.00339457	0.0039	0.0010	0.0016	0	0.0003	0.0041	0.0022	0.0103	0.0036675	567	154602	rs45579743	0.0030	0.0030	0.0026	0.0034	0.0123	0.0029	0.0029	0.0100	0.0094	0.0005	0.0020	0.0025	2.519e-05	0.0004	0.0123	0.0027	0.0033	0.0102	0.0026	0.0026	0.0025	0.0027	0.0108	0.0024	0.0023	0.0084	0.0076	0.0005	0.0011	0.0021	0.0020	0	0.0005	0.0204	0.0039	0.0047	0.0108	0.018	0.50676	D	0.008	0.67890	D	0.997	0.70673	D	0.803	0.58300	P	0.019397	0.27268	N	0.250989	0.822592	0.34798	D	0.695	0.17993	N	-0.22	0.66474	T	-1.39	0.34397	N	0.469	0.50508	-0.4601	0.70064	T	0.194	0.54739	T	10	0.009788275	0.00220	T	.	.	.	0.234	0.53644	.	.	0.887054808707	0.88594	0.5493395921399673	0.54859	0.284355723822	0.30857	0.562994599342	0.47690	T	0.017126	0.14025	T	-0.255837	0.13391	T	-0.133019	0.60717	T	0.0133827016378874	0.00242	T	0.865313	0.56401	D	0.09879193	0.23306	0.09811843	0.23381	0.09879193	0.23305	0.09811843	0.23380	-5.792	0.44505	T	.	.	0.137	0.29914	B	.	.	3.950235	0.57866	23.9	0.99605018677850188	0.74456	0.66136	0.32974	D	AEFGBI	0.424853	0.48986	N	0.346244639007824	0.58541	4.027002	0.376868477382267	0.60142	4.198609	0.999991011201116	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.82	3.81	0.43020	2.308000	0.43350	0.847000	0.22099	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.4256:0.5744:0.0:0.0	10.502	0.43996	427	0.81056	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.014946	0.000000	0.000000	0.025862	0.003049	0.011364	0.02632	3093.33	48	chr9	36170955	.	C	T	3093.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.9;DP=877;ExcessHet=0;FS=1.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.759;SOR=0.821	GT:AD:DP:GQ:PL	0/1:94,110:204:99:3107,0,2260	18	0	1	0
chr9	37442136	37442136	C	T	exonic	ZBTB5	.	nonsynonymous SNV	ZBTB5:NM_014872:exon2:c.G416A:p.R139H	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00873069930142	0.0002	0.000798722	0.0007	9.879e-05	0.0003	0	0	0.0003	0.0011	0.0036	0.0006015	93	154602	rs141061010	0.0004	0.0004	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	8.961e-05	0.0002	0.0026	2.519e-05	0	0.0019	6.295e-05	0.0005	0.0040	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0002	0.0020	0	0	0	0.0001	0	0.0041	0.235	0.18000	T	0.159	0.31527	T	0.001	0.07471	B	0.001	0.04355	B	0.000046	0.53742	D	0.125962	0.999997	0.58761	D	0.695	0.17993	N	3.05	0.08721	T	0.95	0.01509	N	0.319	0.35938	-0.9961	0.31001	T	0.016	0.06616	T	10	0.0057759285	0.00129	T	0.008731	0.23050	T	0.158	0.41098	.	.	0.215239754934	0.21150	0.24412335563864507	0.24326	0.304373407854	0.32745	0.626783251762	0.56688	T	0.019291	0.15396	T	-0.480847	0.00731	T	-0.465269	0.26027	T	0.0271012424795707	0.01559	T	0.842916	0.51943	T	0.10248521	0.24216	0.07335236	0.15931	0.10248521	0.24216	0.07335236	0.15930	-2.747	0.07706	T	.	.	0.358	0.57060	A	.	.	3.029713	0.40581	21.2	0.99773930008033707	0.86174	0.87501	0.47061	D	AEFDBCI	0.526492	0.54882	D	-0.159967311720865	0.34812	1.991852	0.0482508688715663	0.41988	2.531865	0.999999999273547	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.54	4.65	0.57626	2.884000	0.48261	4.915000	0.45989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9298:0.0:0.0702	14.373	0.66419	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3296.83	43	chr9	37442136	.	C	T	3296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.864;DP=935;ExcessHet=0.119;FS=0.454;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.721;SOR=0.748	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1491,0,1836	17	0	2	0
chr9	37735550	37735550	A	C	splicing	FRMPD1	NM_001371224:exon14:c.1219-2A>C;NM_001371225:exon13:c.1219-2A>C;NM_014907:exon13:c.1219-2A>C;NM_001371223:exon13:c.1219-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.865e-07	6.841e-07	0	1.38e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327874	0.85020	D	0.233192	0.84824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.521620	0.95345	34	0.99533568833141062	0.70025	0.99191	0.92574	D	AEFGBI	.	.	.	1.18165044588441	0.99364	22.187	1.04267466025518	0.99295	21.737	0.999976139128194	0.50053	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.978751	0.83050	5.84	5.84	0.93373	8.890000	0.92121	11.214000	0.89510	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	1.0:0.0:0.0:0.0	12.618	0.55946	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	879.33	34	chr9	37735550	.	A	C	879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.596;DP=706;ExcessHet=0;FS=3.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.293;SOR=1.157	GT:AD:DP:GQ:PL	0/1:44,33:77:99:893,0,1231	18	0	1	0
chr9	41953269	41953269	T	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon13:c.A1994T:p.Q665L	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279738021	7.271e-07	1.368e-06	0	1.472e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.67477	.	.	.	.	.	.	.	0.5873157	0.66184	D	.	.	.	.	.	.	.	.	.	0.7020561504015097	0.70146	.	.	.	.	.	0.202036	0.56009	T	.	.	.	.	.	.	.	.	.	0.765923	0.39354	T	.	.	.	.	.	.	.	.	-12.397	0.86731	D	.	.	0.462	0.62806	A	.;.;.;.	.;.;.;.	3.504903	0.49059	22.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.746000	0.54846	3.686000	0.39482	0.324000	0.19419	1.000000	0.71638	0.999000	0.35428	0.024000	0.12247	.	.	.	994	0.00715	.;.;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	.	.	.	.	.	.	.	.	0.05263	919.83	34	chr9	41953269	.	T	A	919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.29;DP=759;ExcessHet=0.119;FS=0.729;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-1.968;QD=6.48;ReadPosRankSum=1.06;SOR=0.586	GT:AD:DP:GQ:PL	0/1:60,16:76:99:352,0,1634	17	0	2	0
chr9	41964613	41964613	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon11:c.G1681A:p.E561K	.	545	972	5	0	0	5	0.00256542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199769614	6.2e-05	0.0002	5.968e-05	6.439e-05	0.0008	5.139e-05	4.738e-05	0.0002	0.0002	3.212e-05	5.76e-05	0	5.571e-05	0.0003	0.0008	2.792e-05	0.0001	0.0003	7.884e-05	0.0002	7.713e-05	8.062e-05	0.0002	4.496e-05	3.512e-05	1.973e-05	1.125e-05	7.231e-05	0	6.537e-05	0	0	0.0002	0	5.883e-05	0.0005	0.0002	.	.	.	0.507	0.18675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.33140	.	.	.	.	.	.	.	0.12276894	0.23294	T	.	.	.	.	.	.	.	.	.	0.30461603973527335	0.30374	.	.	.	.	.	5.39E-4	0.00207	T	.	.	.	.	.	.	.	.	.	0.29517	0.06377	T	.	.	.	.	.	.	.	.	-7.138	0.55035	T	.	.	0.071	0.04558	B	.;.;.	.;.;.	1.143617	0.15312	11.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252000	0.08825	-0.484000	0.08901	0.298000	0.18894	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	.	.	.	994	0.00715	EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	518.88	106	chr9	41964613	.	C	T	518.88	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=1382;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0573;MLEAC=2;MLEAF=0.053;MQ=45.41;MQRankSum=-1.191;QD=3.44;ReadPosRankSum=-0.726;SOR=0.746	GT:AD:DP:GQ:PL	0/1:84,14:98:99:154,0,2289	17	0	2	0
chr9	42188920	42188920	C	A	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3218A:p.A1073E	.	532	986	4	0	0	4	0.00202429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0396984975134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs553157776	0.0011	0.0011	0.0010	0.0011	0.0035	0.0010	0.0010	0.0032	0.0030	0.0002	0.0004	0	0	0	0.0025	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0033	0.0007	0.0007	0.0020	0.0016	0.0001	0	0.0007	0	0.0002	0	0	0.0013	0.0016	0.0033	0.056	0.38185	T	0.006	0.70582	D	.	.	.	.	.	.	0.166133	0.03075	N	1.768180	1	0.08975	N	.	.	.	3.73	0.03982	T	-2.12	0.48184	N	0.124	0.11626	-0.9646	0.38290	T	0.009	0.03011	T	10	0.038933992	0.02346	T	0.002343	0.04535	T	.	.	.	.	0.0138822411134	0.00435	0.154372607781962	0.15358	.	.	0.345601379871	0.17273	T	0.00223	0.01633	T	-0.308175	0.07909	T	-0.680448	0.06956	T	0.325911462306976	0.26060	T	0.352565	0.07917	T	0.12655447	0.29639	0.16716525	0.38581	0.12655447	0.29638	0.16716525	0.38580	-2.759	0.07812	T	.	.	0.148	0.32804	B	.	.	0.803135	0.11738	8.315	0.9656234791522339	0.30265	0.00443	0.02158	N	AEFI	0.029990	0.02933	N	-1.29893783815269	0.03689	0.1652296	-1.45170748048928	0.02755	0.127279	1.42478912111353E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-4.12	0.03650	-1.253000	0.02987	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.3059:0.3354:0.3587	4.134	0.09630	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	.	.	.	.	.	.	.	.	0.02941	1918.13	34	chr9	42188920	.	C	A	1918.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.33;DP=901;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=46.7;MQRankSum=-2.356;QD=10.6;ReadPosRankSum=-0.872;SOR=0.606	GT:AD:DP:GQ:PL	0/1:107,74:181:99:1931,0,2950	16	0	1	2
chr9	42189384	42189384	G	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G3682T:p.V1228L	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0403867784699	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202011482	0.0011	0.0011	0.0010	0.0012	0.0035	0.0010	0.0010	0.0032	0.0031	0.0002	0.0004	0	0	0	0.0024	0.0010	0.0013	0.0035	0.0009	0.0009	0.0010	0.0007	0.0034	0.0008	0.0007	0.0021	0.0017	0.0001	0	0.0008	0	0.0002	0	0	0.0013	0.0021	0.0034	0.38	0.11191	T	0.526	0.10245	T	.	.	.	.	.	.	0.056137	0.02081	N	2.360930	1	0.08975	N	.	.	.	3.87	0.03597	T	-0.49	0.15578	N	0.026	0.00527	-0.9592	0.39330	T	0.010	0.03673	T	10	0.019815505	0.00447	T	0.001056	0.01191	T	.	.	.	.	0.0401082797425	0.02173	0.0145433691601484	0.01411	.	.	0.370967447758	0.20970	T	0.001185	0.00684	T	-0.415512	0.01828	T	-0.834631	0.01183	T	0.0512768542615498	0.05722	T	0.475152	0.14192	T	0.029822357	0.02540	0.0264825	0.00740	0.029822357	0.02540	0.0264825	0.00740	-3.541	0.17010	T	.	.	0.172	0.37839	B	.	.	-0.824000	0.01061	0.046	0.87571617011690062	0.17323	0.00062	0.00453	N	AEFI	0.017786	0.00491	N	-1.43502866729811	0.02337	0.1030748	-1.56008313653875	0.01907	0.08699791	0.00131151494683756	0.08437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.39	0.02457	-0.740000	0.04966	-20.000000	0.00162	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.2389:0.0:0.4794:0.2817	5.100	0.14089	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	.	.	.	.	.	.	.	.	0.02632	4170.33	34	chr9	42189384	.	G	T	4170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.43;DP=2550;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.65;MQRankSum=0.871;QD=12.45;ReadPosRankSum=0.97;SOR=0.813	GT:AD:DP:GQ:PL	0/1:178,157:335:99:4184,0,4806	18	0	1	0
chr9	76189177	76189177	T	C	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon19:c.T2464C:p.Y822H,PCSK5:NM_001372043:exon19:c.T2464C:p.Y822H,PCSK5:NM_006200:exon19:c.T2464C:p.Y822H	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	0.0002	0.00139776	0.0026	0.0004	0.0004	0	0	0.0002	0.0066	0.0177	0.0021863	338	154602	rs138949162	0.0012	0.0012	0.0006	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	8.968e-05	0.0002	0	0	0	0.0042	0.0001	0.0013	0.0181	0.0006	0.0006	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0007	0	0	0	0	0.0001	0	0.0122	0.042	0.91255	D	0.09	0.74150	T	1.0	0.90584	D	0.995	0.83170	D	0.000017	0.62929	N	0.158960	0.995768	0.42845	D	1.665	0.42610	L	0.64	0.52867	T	-3.55	0.68764	D	0.34	0.40963	-0.6813	0.61312	T	0.268	0.63929	T	10	0.008988649	0.00203	T	.	.	.	0.248	0.55615	.	.	0.429435026966	0.42563	0.722959823309916	0.72239	0.111227701114	0.12544	0.479971021414	0.36052	T	0.378387	0.74137	T	-0.399413	0.02336	T	-0.331569	0.41295	T	0.0572492513179974	0.06729	T	0.756924	0.43862	T	0.23949578	0.46840	0.24015962	0.49383	0.23949578	0.46840	0.24015962	0.49382	-5.331	0.47671	T	.	.	0.107	0.40032	B	.;.;.;.	.;.;.;.	2.912691	0.38644	20.8	0.99792041021072841	0.87750	0.93957	0.59684	D	AEFBI	0.370293	0.45672	N	0.436052703106801	0.63417	4.574932	0.353987682553457	0.58749	4.047325	0.376577922199579	0.19921	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.7	2.08	0.26079	3.631000	0.54022	0.801000	0.21659	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.201:0.0:0.799	9.496	0.38156	905	0.23532	.;.;.;Growth factor receptor domain 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.002717	0.014620	0.000000	0.008621	0.003049	0.022727	0.05263	1242.83	33	chr9	76189177	.	T	C	1242.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.938;DP=700;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=1.24;SOR=0.757	GT:AD:DP:GQ:PL	0/1:31,26:57:99:636,0,742	17	0	2	0
chr9	77647697	77647697	G	A	exonic	GNA14	.	nonsynonymous SNV	GNA14:NM_004297:exon1:c.C97T:p.R33C	.	416	1036	67	3	0	73	0.0340326	.	.	.	723630	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.738	.	0.0019	0.00379393	0.0066	0.0009	0.0049	0	0	0.0043	0.0052	0.0242	0.0044695	691	154602	rs138686336	0.0033	0.0033	0.0026	0.0040	0.0364	0.0032	0.0032	0.0324	0.0308	0.0010	0.0040	0.0257	0	7.59e-05	0.0364	0.0014	0.0060	0.0210	0.0028	0.0028	0.0025	0.0030	0.0180	0.0026	0.0025	0.0150	0.0138	0.0004	0	0.0048	0.0242	0	9.407e-05	0.0442	0.0019	0.0090	0.0180	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-2.47	0.88997	D	-4.76	0.80340	D	0.539	0.56662	0.856	0.95101	D	0.840	0.94656	D	10	0.009296596	0.00210	T	.	.	.	0.738	0.90895	.	.	0.911366689434	0.91047	0.7654683213464282	0.76495	0.247364135573	0.27283	0.744459748268	0.73629	T	0.773193	0.93946	D	-0.0334965	0.46907	T	0.196028	0.82911	D	0.136027127504349	0.15929	T	0.889111	0.62070	D	0.573799	0.71269	0.48309243	0.70072	0.573799	0.71270	0.48309243	0.70073	-11.881	0.84266	D	0.6395720819962271	0.71007	0.734	0.74359	P	.	.	5.366148	0.89973	31	0.99931552829862558	0.99387	0.89540	0.50069	D	AEFDBHCIJ	0.842029	0.75917	D	0.785945920123496	0.85217	8.511172	0.736347521597922	0.85135	8.490814	1.0	0.98316	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.71	0.69187	0	.	.	5.39	5.39	0.77615	3.554000	0.53466	9.800000	0.81690	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.722	0.91661	807	0.43470	.	.	.	.	.	.	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	0.035895	0.036842	0.040761	0.038012	0.000000	0.026316	0.015244	0.034091	0.02632	910.33	33	chr9	77647697	.	G	A	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.014;DP=702;ExcessHet=0;FS=2.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.647;SOR=0.436	GT:AD:DP:GQ:PL	0/1:31,37:68:99:924,0,684	18	0	1	0
chr9	87919289	87919289	-	GC	exonic	SPATA31C1	.	frameshift insertion	SPATA31C1:NM_001145124:exon2:c.224_225insGC:p.C76Rfs*14	.	382	1133	7	0	0	7	0.00307963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.574e-05	0	0	0.0010	0	1.508e-05	0	0	3.84e-05	1	26028	rs747991568	0.0013	0.0031	0.0012	0.0013	0.0480	0.0012	0.0012	0.0460	0.0452	0.0003	0	3.863e-05	0.0480	0.0007	0.0004	3.071e-05	0.0016	0.0007	0.0013	0.0046	0.0011	0.0016	0.0395	0.0012	0.0011	0.0343	0.0323	0.0003	0	0.0003	0	0.0395	0.0013	0	0.0001	0.0019	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2169.29	663	chr9	87919289	.	A	AGC	2169.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.576;DP=7873;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58;MQRankSum=-13.66;QD=3.84;ReadPosRankSum=5.71;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:477,88:565:99:1|0:87919241_T_TTCTTGTCTCCCAGCGTCA:2183,0,19218:87919241	18	0	1	0
chr9	88133647	88133647	-	GACGCTGGGAGACAAGATGACGCTGGGAGACAAGAT	exonic	SPATA31C2	.	nonframeshift insertion	SPATA31C2:NM_001166137:exon2:c.211_212insATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGCGTC:p.R70_P71insHLVSQRHLVSQR,SPATA31C2:NM_001350978:exon2:c.211_212insATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGCGTC:p.R70_P71insHLVSQRHLVSQR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	8.639e-05	0.0052	0.0003	3.016e-05	0	0	0.0006147	16	26028	.	0.0005	0.0012	0.0005	0.0005	0.0126	0.0005	0.0005	0.0116	0.0113	0.0002	0	0	0.0126	0.0031	0.0002	2.905e-05	0.0006	0.0003	0.0021	0.0033	0.0016	0.0026	0.0419	0.0019	0.0018	0.0371	0.0352	0.0001	0	0.0006	0	0.0419	0.0075	0	0.0002	0.0010	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2256.29	39	chr9	88133647	.	G	GGACGCTGGGAGACAAGATGACGCTGGGAGACAAGAT	2256.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.14;DP=1169;ExcessHet=0;FS=35.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.08;MQRankSum=-14.87;QD=9.1;ReadPosRankSum=-5.474;SOR=2.34	GT:AD:DP:GQ:PL	0/1:178,70:248:99:2270,0,7230	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:175,140:333:99:680,0,2637	1	0	18	0
chr9	94098440	94098440	T	A	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon6:c.T1874A:p.L625Q,PTPDC1:NM_152422:exon6:c.T1868A:p.L623Q,PTPDC1:NM_001253830:exon7:c.T1712A:p.L571Q,PTPDC1:NM_177995:exon7:c.T1712A:p.L571Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	7.7e-05	0.0113818	0.0047	0.0009	0	0.0624	0	7.492e-05	0.0022	0.0010	0.0043208	668	154602	rs16909677	0.0029	0.0029	0.0030	0.0029	0.0990	0.0029	0.0028	0.0964	0.0953	0.0002	8.944e-05	0	0.0990	0	0.0003	3.327e-05	0.0032	0.0015	0.0024	0.0024	0.0020	0.0028	0.0606	0.0022	0.0021	0.0551	0.0529	0.0006	0	0.0005	0	0.0606	0	0	5.881e-05	0.0014	0.0023	0.038	0.51248	D	0.292	0.24767	T	0.682	0.44504	P	0.185	0.39516	B	0.777643	0.09496	N	0.903407	1	0.08975	N	2.125	0.59049	M	2.37	0.15964	T	-0.65	0.18877	N	0.137	0.13484	-1.0278	0.21168	T	0.004	0.01192	T	10	0.0021002889	0.00030	T	.	.	.	0.148	0.39182	.	.	0.364926071151	0.36103	0.38343039663361006	0.38258	0.15498725264	0.17506	0.252870559692	0.04075	T	0.020385	0.18113	T	-0.708661	0.00032	T	-0.660899	0.08205	T	0.00860093795093795	0.00105	T	0.868713	0.57175	D	0.079870924	0.18270	0.085157014	0.19643	0.079870924	0.18270	0.085157014	0.19642	-4.294	0.29147	T	.	.	0.091	0.15206	B	.;.;.;.	.;.;.;.	1.317535	0.17215	13.03	0.84642473707563781	0.15411	0.12276	0.17169	N	AEFBI	0.068407	0.13493	N	-0.447678809749309	0.23819	1.281816	-0.559279924328242	0.20560	1.108242	0.999724025161375	0.42220	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	6.06	2.4	0.28568	0.463000	0.21683	-0.088000	0.12093	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.1676:0.2983:0.0:0.5341	3.441	0.07031	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1601.33	33	chr9	94098440	.	T	A	1601.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=728;ExcessHet=0;FS=1.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.315;SOR=0.867	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1615,0,1789	18	0	1	0
chr9	96458500	96458500	G	C	exonic	HABP4	.	nonsynonymous SNV	HABP4:NM_014282:exon2:c.G471C:p.E157D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0122702279716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308734002	1.369e-06	1.368e-06	1.362e-06	1.376e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.18691	T	0.336	0.18232	T	0.518	0.68779	P	0.147	0.56828	B	0.000001	0.84330	D	0.053759	0.995038	0.42516	D	1.935	0.51832	L	0.18	0.60361	T	-0.46	0.27463	N	0.227	0.29544	-0.8840	0.49440	T	0.168	0.50681	T	10	0.1666584	0.31115	T	0.01227	0.30692	T	0.060	0.17295	0.243	0.17677	0.831545333466	0.82994	0.0992486165549923	0.09855	0.851093422288	0.68531	0.451491296291	0.32147	T	0.095016	0.39534	T	-0.119918	0.33136	T	-0.41003	0.32223	T	0.395859062671661	0.28786	T	0.683432	0.29668	T	0.10740186	0.25395	0.08029262	0.18149	0.10740186	0.25395	0.08029262	0.18149	-4.424	0.29880	T	.	.	0.103	0.18289	B	.;.	.;.	3.065555	0.41183	21.3	0.98460076568883503	0.41734	0.78139	0.38507	D	AEFDBI	0.254964	0.37418	N	-0.000824271310023439	0.41818	2.508175	0.0148608270531719	0.40404	2.410733	0.986416180510624	0.31059	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.43	3.53	0.39533	1.354000	0.33660	6.140000	0.54039	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.506000	0.29152	0.257:0.0:0.5285:0.2144	2.910	0.05381	724	0.55085	.;Intracellular hyaluronan-binding protein 4, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	33	chr9	96458500	.	G	C	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.838;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.396;SOR=0.657	GT:AD:DP:GQ:PL	0/1:89,75:164:99:1833,0,2349	18	0	1	0
chr9	96565435	96565435	T	C	exonic	CDC14B	.	nonsynonymous SNV	CDC14B:NM_001077181:exon2:c.A98G:p.N33S,CDC14B:NM_001351567:exon2:c.A209G:p.N70S,CDC14B:NM_001351568:exon2:c.A98G:p.N33S,CDC14B:NM_001351569:exon2:c.A98G:p.N33S,CDC14B:NM_001351570:exon2:c.A140G:p.N47S,CDC14B:NM_003671:exon2:c.A209G:p.N70S,CDC14B:NM_033331:exon2:c.A209G:p.N70S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00307341393614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.32769	T	0.161	0.35205	T	0.046	0.21875	B	0.014	0.18489	B	0.000004	0.62929	D	0.101574	0.522944	0.31912	D	.	.	.	0.89	0.45636	T	-2.54	0.55821	D	0.254	0.28732	-1.0504	0.14285	T	0.059	0.24686	T	10	0.20939589	0.37301	T	0.003073	0.06636	T	0.081	0.23632	0.328	0.31196	0.58666542446	0.58340	0.08828629473875149	0.08761	0.247669693122	0.27324	0.560800433159	0.47381	T	0.301178	0.67364	T	-0.143986	0.29257	T	-0.444602	0.28294	T	0.528934717178345	0.33695	D	0.928407	0.73561	D	0.386294	0.59768	0.20312022	0.44373	0.386294	0.59768	0.20312022	0.44372	-6.485	0.51138	T	.	.	0.066	0.02548	B	.;.;.;.;.	.;.;.;.;.	2.387733	0.30655	18.50	0.97435619955907449	0.33951	0.77819	0.38308	D	AEFDBI	0.194911	0.32197	N	-0.325367147968584	0.28187	1.552683	-0.177018128955098	0.32383	1.841842	0.999936694076106	0.46732	0.706548	0.73137	0	0.541556	0.11502	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	4.26	3.11	0.34883	2.813000	0.47701	1.852000	0.29263	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3024:0.0:0.6976	5.719	0.17246	863	0.32847	Dual specificity/tyrosine protein phosphatase, N-terminal;.;.;.;Dual specificity/tyrosine protein phosphatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1425.33	36	chr9	96565435	.	T	C	1425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.685;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.436;SOR=0.61	GT:AD:DP:GQ:PL	0/1:37,56:93:99:1439,0,956	18	0	1	0
chr9	97318498	97318498	C	T	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon10:c.C995T:p.P332L,CCDC180:NM_001348010:exon11:c.C986T:p.P329L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0003	0.000998403	0.0015	0	8.664e-05	0	0.0129	0.0014	0.0022	6.058e-05	0.0012354	191	154602	rs200586749	0.0008	0.0008	0.0008	0.0008	0.0005	0.0007	0.0007	0.0004	0.0004	2.987e-05	0.0004	0.0011	0	0.0106	0.0005	0.0004	0.0008	9.276e-05	0.0011	0.0011	0.0008	0.0015	0.0005	0.0010	0.0009	0.0004	0.0003	4.813e-05	0	0.0005	0.0017	0	0.0112	0	0.0005	0.0009	0	0.01	0.56456	D	0.001	0.83351	D	.	.	.	.	.	.	0.008283	0.30918	N	0.314541	0.575714	0.54805	D	.	.	.	1.73	0.26445	T	-5.1	0.83027	D	0.275	0.31140	-0.9354	0.43333	T	0.070	0.28740	T	10	0.006398231	0.00145	T	.	.	.	0.099	0.28413	.	.	0.15556083564	0.15200	0.10924713121121508	0.10853	.	.	0.327434778214	0.14547	T	.	.	.	-0.495226	0.00608	T	-0.508762	0.21443	T	0.0784568993442058	0.09788	T	0.654634	0.26482	T	0.0964422	0.22717	0.10467975	0.25147	0.0964422	0.22716	0.10467975	0.25147	-2.664	0.07006	T	.	.	0.092	0.13409	B	.	.	2.151279	0.27404	17.45	0.90723123532000038	0.19973	0.13416	0.17844	N	AEFDI	0.067699	0.13321	N	-0.887088996964201	0.11149	0.5364713	-0.937369495670433	0.11217	0.570103	0.907815275389427	0.26268	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.61	2.78	0.31702	0.683000	0.25029	0.158000	0.15372	-0.837000	0.02821	0.158000	0.23769	0.000000	0.08366	0.002000	0.04165	0.1708:0.7373:0.0:0.0919	6.708	0.22449	788	0.46569	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	619.33	33	chr9	97318498	.	C	T	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.289;DP=690;ExcessHet=0;FS=0.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.284;SOR=0.544	GT:AD:DP:GQ:PL	0/1:35,26:61:99:633,0,885	18	0	1	0
chr9	100442207	100442207	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G269A:p.R90K,MSANTD3:NM_001198805:exon2:c.G269A:p.R90K,MSANTD3:NM_001198806:exon2:c.G269A:p.R90K,MSANTD3:NM_001198807:exon2:c.G269A:p.R90K,MSANTD3:NM_080655:exon2:c.G269A:p.R90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00611623825291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887867357	5.473e-05	5.472e-05	6.398e-05	4.538e-05	7.014e-05	4.477e-05	4.147e-05	5.71e-05	5.28e-05	0	0	0	0	0	0	7.014e-05	1.656e-05	1.159e-05	2.631e-05	2.627e-05	2.571e-05	2.692e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.035	0.43708	D	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	0.564341	0.32240	D	0.895	0.22405	L	.	.	.	-0.82	0.27876	N	0.477	0.51226	-0.6245	0.63802	T	0.222	0.58498	T	8	0.31768113	0.49176	T	0.006116	0.15993	T	0.151	0.39764	0.475	0.55182	0.259761712551	0.25597	0.7697746890755183	0.76926	1.3389385424	0.83804	0.849319815636	0.89511	D	0.180021	0.53122	T	0.0898806	0.63177	D	-0.0931832	0.63920	T	0.740648984909058	0.42772	D	0.881612	0.60904	D	0.19164935	0.40801	0.2405909	0.49437	0.19164935	0.40801	0.2405909	0.49436	-3.715	0.22333	T	.	.	0.352	0.76201	A	.;.;.;.;.;.	.;.;.;.;.;.	4.705657	0.75548	26.4	0.99690172554301759	0.79909	0.96078	0.67433	D	AEFDBHIJ	0.832475	0.75084	D	0.499267143420186	0.67048	5.029901	0.537054017540039	0.70500	5.514668	0.999999921675007	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.681000	0.74356	9.815000	0.81770	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8596:0.1404	15.365	0.74231	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	252.76	99	chr9	100442207	.	G	A	252.76	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-2.802;DP=1344;ExcessHet=0.119;FS=260.498;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.51;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,18:86:96:0|1:100442207_G_A:96,0,2365:100442207	12	0	2	5
chr9	100442209	100442209	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G271A:p.E91K,MSANTD3:NM_001198805:exon2:c.G271A:p.E91K,MSANTD3:NM_001198806:exon2:c.G271A:p.E91K,MSANTD3:NM_001198807:exon2:c.G271A:p.E91K,MSANTD3:NM_080655:exon2:c.G271A:p.E91K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0055681647514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301280836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.626e-06	6.589e-06	1.295e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.011	0.55530	D	0.068	0.44106	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991125	0.41313	D	0.345	0.11182	N	.	.	.	-1.85	0.43334	N	0.659	0.66873	-0.9302	0.44109	T	0.162	0.49831	T	8	0.362716	0.52860	T	0.005568	0.14379	T	0.334	0.65620	0.24	0.17218	0.128392430309	0.12331	0.7185358234044404	0.71796	0.53005267504	0.50556	0.852187097073	0.89944	D	0.250845	0.62101	T	0.312691	0.83945	D	0.211382	0.83736	D	0.699628472328186	0.40701	D	0.952805	0.82399	D	0.24373437	0.47315	0.28995815	0.55017	0.24373437	0.47315	0.28995815	0.55017	-7.936	0.64410	D	.	.	0.624	0.83259	P	.;.;.;.;.;.	.;.;.;.;.;.	4.205833	0.63499	24.6	0.99816656266768622	0.89973	0.96187	0.67934	D	AEFDBHIJ	0.810217	0.73352	D	-0.0997318424787354	0.37404	2.175666	0.111830775840215	0.45151	2.783557	0.999999923427681	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.802000	0.74964	9.928000	0.82558	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1345:0.8655:0.0	16.026	0.80343	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	245.35	102	chr9	100442209	.	G	A	245.35	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.927;DP=1332;ExcessHet=0.119;FS=263.72;InbreedingCoeff=-0.2473;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.431;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,19:89:97:0|1:100442207_G_A:97,0,2402:100442207	7	0	1	11
chr9	101476684	101476684	C	T	exonic	PGAP4	.	nonsynonymous SNV	PGAP4:NM_001303108:exon2:c.G409A:p.E137K,PGAP4:NM_001371233:exon2:c.G409A:p.E137K,PGAP4:NM_032342:exon2:c.G409A:p.E137K,PGAP4:NM_001303107:exon3:c.G409A:p.E137K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00103022996019	.	0.00119808	0.0003	0	8.64e-05	0.0044	0	4.504e-05	0	0	0.0003363	52	154602	rs145638335	0.0003	0.0003	0.0003	0.0003	0.0088	0.0002	0.0002	0.0080	0.0077	2.987e-05	0.0001	0	0.0088	1.873e-05	0.0005	1.619e-05	0.0001	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0045	0.0001	9.697e-05	0.0030	0.0026	0	0	0	0	0.0045	0	0	0	0.0005	0.0002	0.404	0.10345	T	0.636	0.07059	T	0.142	0.27621	B	0.024	0.20255	B	0.006702	0.31850	N	0.325524	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.43	0.14390	N	0.274	0.31027	-1.0698	0.09458	T	0.019	0.07753	T	9	0.0061312616	0.00138	T	0.00103	0.01144	T	0.166	0.42578	.	.	0.191931220699	0.18833	0.2590805443844159	0.25822	0.459465389493	0.45526	0.47450119257	0.35301	T	0.011367	0.10151	T	-0.443119	0.01240	T	-0.410759	0.32138	T	0.0354023799997899	0.02877	T	0.774123	0.40598	T	0.05027932	0.09058	0.057595994	0.10497	0.05027932	0.09058	0.057595994	0.10497	-3.523	0.16755	T	.	.	0.061	0.01092	B	.;.;.	.;.;.	3.291833	0.45147	22.1	0.98675759464784552	0.44539	0.64098	0.32298	D	AEFBI	0.278756	0.39297	N	-0.292758115358377	0.29426	1.63177	-0.0895428537116108	0.35821	2.07701	0.999304429684321	0.39077	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.81	3.87	0.43823	2.653000	0.46355	2.852000	0.35147	0.599000	0.40250	0.569000	0.27497	0.996000	0.32793	0.892000	0.42986	0.1345:0.5616:0.2139:0.0901	4.004	0.09083	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2595.33	42	chr9	101476684	.	C	T	2595.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=863;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.333;SOR=0.575	GT:AD:DP:GQ:PL	0/1:65,94:159:99:2609,0,1471	18	0	1	0
chr9	103005548	103005548	A	G	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.A917G:p.K306R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00410971548035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775	0.03335	T	0.021	0.58089	D	1.0	0.90584	D	0.998	0.88582	D	0.160461	0.17680	N	0.473004	1	0.08975	N	2.25	0.63811	M	2.22	0.18248	T	-1.71	0.40660	N	0.137	0.13484	-1.0656	0.10409	T	0.058	0.24391	T	10	0.1226393	0.23268	T	0.00411	0.09838	T	0.103	0.29403	0.192	0.10304	0.467416895013	0.46368	1.5698979288171372E-5	0.00001	0.00259996021743	0.00224	0.354781031609	0.18623	T	0.066649	0.32998	T	-0.278413	0.10837	T	-0.637697	0.09839	T	0.205126076936722	0.20695	T	0.332267	0.06988	T	0.032900065	0.03403	0.05241765	0.08632	0.032900065	0.03403	0.05241765	0.08632	-7.78	0.59561	D	.	.	0.153	0.33891	B	.;.;.	.;.;.	0.988684	0.13663	10.20	0.56397751151971287	0.05543	0.06150	0.12131	N	AEFGI	0.058354	0.10943	N	-0.242103429347292	0.31419	1.761592	-0.392269248977954	0.25225	1.386017	0.00729671495788341	0.11431	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	-0.113000	0.10745	2.079000	0.30484	-0.111000	0.15049	0.000000	0.06391	0.143000	0.23109	0.010000	0.09038	1.0:0.0:0.0:0.0	10.007	0.41135	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2096.33	34	chr9	103005548	.	A	G	2096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.77;DP=897;ExcessHet=0;FS=1.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.94;SOR=0.566	GT:AD:DP:GQ:PL	0/1:93,75:168:99:2110,0,2697	18	0	1	0
chr9	104814129	104814129	T	C	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon27:c.A3890G:p.D1297G	HDL deficiency, type 2;Tangier disease, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.060636784538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.18889	T	0.516	0.10607	T	0.001	0.07471	B	0.003	0.08700	B	0.000001	0.62929	D	0.096084	0.999994	0.58761	D	1.87	0.49600	L	-2.07	0.85943	D	-0.49	0.15578	N	0.606	0.62357	-0.3682	0.73016	T	0.452	0.78591	T	10	0.51824003	0.62491	D	0.060637	0.68066	D	0.245	0.55201	0.323	0.30387	0.924095032617	0.92332	0.5792276256425806	0.57851	0.881853809036	0.69801	0.493667006493	0.37948	T	0.262248	0.63381	T	0.0197291	0.54344	T	-0.209437	0.53748	T	0.924664676189423	0.58596	D	0.952005	0.81587	D	0.22280069	0.44887	0.23794848	0.49105	0.22280069	0.44887	0.23794848	0.49103	-5.163	0.38563	T	0.15551270659334396	0.18645	0.182	0.39613	B	.	.	3.605650	0.50956	23.0	0.98002572859765058	0.37491	0.99608	0.97942	D	AEFBI	0.897782	0.84033	D	-0.0756808645450717	0.38461	2.253007	0.0958281181621473	0.44338	2.717532	0.999999835265338	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.39	5.39	0.77615	7.674000	0.83146	7.867000	0.71756	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.0:0.0:0.0:1.0	15.405	0.74593	947	0.11584	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1273.33	33	chr9	104814129	.	T	C	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.008;DP=722;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.186;SOR=0.892	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1287,0,1135	18	0	1	0
chr9	109013404	109013404	G	-	exonic	CTNNAL1	.	frameshift deletion	CTNNAL1:NM_001286974:exon1:c.39delC:p.G14Efs*58,CTNNAL1:NM_003798:exon1:c.39delC:p.G14Efs*58	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1500.29	32	chr9	109013403	.	CG	C	1500.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.694;DP=748;ExcessHet=0;FS=1.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.192;SOR=0.907	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1514,0,1400	18	0	1	0
chr9	110411307	110411307	G	C	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon37:c.C6404G:p.S2135C	.	433	1061	23	5	0	33	0.0153132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	.	0.0009	0.00219649	0.0020	0	0.0005	0.0002	0.0002	0.0010	0.0067	0.0099	0.0017658	273	154602	rs201520602	0.0011	0.0011	0.0007	0.0014	0.0105	0.0010	0.0010	0.0100	0.0097	5.974e-05	0.0004	0.0003	5.038e-05	0.0001	0.0050	0.0004	0.0014	0.0105	0.0007	0.0007	0.0005	0.0009	0.0108	0.0006	0.0005	0.0084	0.0076	0	0	0.0004	0.0003	0	0.0002	0.0068	0.0005	0.0005	0.0108	0.018	0.50676	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.19	0.88972	M	0.75	0.66834	T	-2.13	0.52612	N	0.701	0.70527	-0.1106	0.79853	T	0.479	0.80047	T	10	0.011466593	0.00250	T	.	.	.	0.521	0.79643	.	.	0.284112513307	0.28011	0.5651406010224773	0.56441	0.475177538353	0.46692	0.497750043869	0.38514	T	0.035319	0.23671	T	-0.117525	0.33528	T	0.0663681	0.74668	D	0.0880394297841821	0.10983	T	0.787021	0.42574	T	0.34286007	0.56506	0.24555826	0.50047	0.34286007	0.56506	0.24555826	0.50046	-10.986	0.79582	D	.	.	0.470	0.63186	A	.;.	.;.	5.089267	0.84982	28.5	0.99257070197866881	0.57088	0.99565	0.97500	D	AEFBI	0.916904	0.88376	D	0.888241225313274	0.91171	10.75063	0.890068235185681	0.95124	13.33367	0.999999999443821	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	5.74	0.90070	9.756000	0.98104	11.791000	0.96374	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.931	0.97118	966	0.07191	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.022727	0.05263	3342.83	34	chr9	110411307	.	G	C	3342.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=871;ExcessHet=0.119;FS=4.2;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.381;SOR=0.955	GT:AD:DP:GQ:PL	0/1:73,51:124:99:1443,0,2079	17	0	2	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,85:202:99:0|1:114406374_C_G:1697,0,3725:114406374	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,85:202:99:0|1:114406374_C_G:1697,0,3725:114406374	8	0	10	1
chr9	122554125	122554125	G	A	exonic	OR1N2	.	nonsynonymous SNV	OR1N2:NM_001004457:exon1:c.G914A:p.G305D	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00540991242183	.	0.000199681	7.461e-05	0.0005	0	0	0	3.01e-05	0	0.0001	6.47e-05	10	154602	rs553892738	4.038e-05	4.036e-05	4.767e-05	3.302e-05	0.0002	3.18e-05	2.912e-05	9.767e-05	6.962e-05	0.0002	0.0001	0	0	0	0	2.789e-05	0.0001	6.964e-05	0.0001	0.0001	0.0001	0.0001	0.0003	7.092e-05	5.748e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	7.352e-05	0	0	.	.	.	.	.	.	0.007	0.14184	B	0.011	0.15521	B	0.164574	0.03064	N	1.713730	1	0.08975	N	1.455	0.36767	L	.	.	.	.	.	.	.	.	-1.0337	0.19268	T	0.079	0.31254	T	10	0.040010363	0.02535	T	0.00541	0.13893	T	0.050	0.13987	.	.	0.0611884634855	0.05136	0.2265966295723656	0.22574	0.185155760088	0.20815	0.202060267329	0.00519	T	0.003776	0.03181	T	-0.44447	0.01217	T	-0.546225	0.17689	T	0.00632813847190711	0.00070	T	0.454055	0.12934	T	0.06973616	0.15302	0.08049566	0.18213	0.06973616	0.15301	0.08049566	0.18213	-8.929	0.67239	D	.	.	0.201	0.42462	B	.;.	.;.	0.349611	0.07226	3.824	0.71231292587117268	0.09559	0.02849	0.07606	N	AEFBI	0.039263	0.05679	N	-0.732989029754612	0.15099	0.7580066	-0.748014610055368	0.15770	0.8311009	3.5865358946076E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.55	1.49	0.21966	-0.702000	0.05171	-2.431000	0.03763	-0.764000	0.03494	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1709:0.1465:0.3814:0.3011	1.279	0.01914	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1127.33	42	chr9	122554125	.	G	A	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.187;DP=880;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.991;SOR=0.46	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1141,0,1186	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,33:309:99:0|1:122724732_T_C:497,0,11333:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:267,26:293:99:0|1:122724732_T_C:288,0,11130:122724732	4	0	12	3
chr9	130884581	130884581	G	A	exonic	ABL1	.	nonsynonymous SNV	ABL1:NM_005157:exon11:c.G2291A:p.R764Q,ABL1:NM_007313:exon11:c.G2348A:p.R783Q	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)	.	.	.	.	.	.	.	.	.	.	3511997	ABL1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0176028688106	.	0.000199681	4.221e-05	0.0001	0	0.0005	0	0	0	0	3.88e-05	6	154602	rs575721187	1.369e-05	1.368e-05	1.362e-05	1.376e-05	0.0001	8.94e-06	7.27e-06	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	1.259e-05	1.656e-05	0	3.283e-05	3.281e-05	5.138e-05	1.343e-05	0.0002	1.26e-05	7.97e-06	1.913e-05	1.03e-05	7.216e-05	0	6.534e-05	0	0.0002	0	0	0	0	0	0.002	0.72154	D	0.481	0.12107	T	1.0	0.90584	D	0.862	0.61339	P	0.000009	0.62929	D	0.112748	1	0.81001	D	1.1	0.28011	L	2.45	0.15028	T	-0.68	0.19509	N	0.635	0.64818	-1.1590	0.00781	T	0.067	0.27502	T	10	0.20699549	0.36980	T	0.017603	0.39363	T	0.165	0.42395	0.259	0.20159	0.498981075579	0.49534	0.24994514308421542	0.24908	0.85617775767	0.68766	0.702243208885	0.67468	T	0.236231	0.60366	T	-0.309352	0.07805	T	-0.339408	0.40411	T	0.321046643473224	0.25865	T	0.955004	0.82846	D	0.18938653	0.40478	0.19329508	0.42891	0.18938653	0.40478	0.19329508	0.42890	-2.995	0.10127	T	0.2674277632709777	0.36030	0.168	0.36986	B	.;.	.;.	5.084168	0.84864	28.4	0.99944642821442531	0.99886	0.97689	0.76430	D	AEFDGBCI	0.804388	0.72926	D	0.590290862652133	0.72568	5.826278	0.648112262008219	0.78471	6.882826	0.999999999984507	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	6.587000	0.73960	9.972000	0.82868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.793	0.91949	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2529.33	33	chr9	130884581	.	G	A	2529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=771;ExcessHet=0;FS=6.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.755;SOR=0.793	GT:AD:DP:GQ:PL	0/1:48,93:141:99:2543,0,1090	18	0	1	0
chr9	132888304	132888304	T	C	exonic	SPACA9	.	nonsynonymous SNV	SPACA9:NM_001316897:exon4:c.T362C:p.V121A,SPACA9:NM_001316898:exon4:c.T362C:p.V121A,SPACA9:NM_001316900:exon4:c.T362C:p.V121A,SPACA9:NM_018956:exon4:c.T362C:p.V121A	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0189249496858	.	.	7.739e-05	0	0	0	0	9.226e-05	0	0.0002	6.47e-05	10	154602	rs768111280	4.591e-05	4.72e-05	3.272e-05	5.926e-05	0.0014	3.668e-05	3.353e-05	0.0007	0.0005	0	2.244e-05	0	2.521e-05	0	0.0014	3.062e-05	9.955e-05	0.0002	3.941e-05	3.937e-05	3.855e-05	4.03e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	1.471e-05	0.0005	0.0006	0.447	0.09075	T	0.572	0.08746	T	0.994	0.68779	D	0.851	0.77487	P	0.000001	0.84330	D	0.000000	0.999935	0.51612	D	.	.	.	0.86	0.46777	T	-1.45	0.35597	N	0.521	0.64989	-0.8160	0.54183	T	0.221	0.58447	T	10	0.27782005	0.45350	T	0.018925	0.41149	T	0.173	0.43840	0.458	0.52427	0.515548328021	0.51195	0.3405624195134677	0.33969	0.415299196279	0.42189	.	.	.	0.091269	0.38760	T	-0.235534	0.15924	T	-0.279913	0.46812	T	0.194167748093605	0.20087	T	0.816918	0.52723	T	0.15614012	0.35251	0.15117845	0.35622	0.15614012	0.35251	0.15117845	0.35621	-3.644	0.18715	T	.	.	0.496	0.64389	A	.;.;.	.;.;.	4.393503	0.67818	25.1	0.99659459880725032	0.77820	0.89757	0.50429	D	AEFDBCI	0.436601	0.49675	N	0.366555940255754	0.59620	4.142826	0.359034458086211	0.59053	4.080109	0.999999999212499	0.74766	0.615465	0.37627	0	0.659912	0.62753	0	0.616094	0.41390	0	0.655142	0.61905	0	.	.	5.08	5.08	0.68373	3.193000	0.50698	6.154000	0.54239	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	13.672	0.61911	791	0.46100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1815.33	35	chr9	132888304	.	T	C	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=771;ExcessHet=0;FS=1.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.399;SOR=0.526	GT:AD:DP:GQ:PL	0/1:50,70:120:99:1829,0,1280	18	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	.	.	.	.	.	.	.	.	0.02632	761.33	34	chr9	133336041	.	C	G	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.298;DP=693;ExcessHet=0;FS=2.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.028;SOR=1.078	GT:AD:DP:GQ:PL	0/1:27,36:63:99:775,0,667	18	0	1	0
chr9	135495592	135495592	A	T	exonic	C9orf116	.	nonsynonymous SNV	C9orf116:NM_001048265:exon3:c.T246A:p.N82K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0141209174668	.	.	1.657e-05	0	0	0	0	1.508e-05	0.0011	0	1.29e-05	2	154602	rs776324340	4.105e-06	4.788e-06	5.446e-06	2.751e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	8.994e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.249	0.23776	T	0.231	0.30614	B	0.04	0.23831	B	0.000424	0.00601	N	3.323010	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.75	0.21003	N	0.14	0.13911	-1.0797	0.07407	T	0.083	0.32499	T	9	0.082169145	0.13532	T	0.014121	0.34021	T	0.036	0.09122	0.382	0.39970	0.0716867268079	0.06686	0.41144887449748463	0.41060	0.299534860611	0.32320	.	.	.	0.021861	0.16951	T	-0.254219	0.13586	T	-0.587458	0.13886	T	0.0501796008120239	0.05532	T	0.549445	0.18903	T	0.076457284	0.17292	0.055549204	0.09765	0.076457284	0.17291	0.055549204	0.09764	-3.707	0.19422	T	.	.	0.217	0.44720	B	.	.	1.439944	0.18595	13.82	0.84507686418091021	0.15332	0.08825	0.14696	N	AEGBI	.	.	.	-0.830316885973107	0.12539	0.611877	-0.87726832504793	0.12634	0.6509979	0.997005698492237	0.35191	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.03	-0.314	0.12117	0.397000	0.20608	0.015000	0.13501	0.735000	0.85950	0.000000	0.06391	0.000000	0.08366	0.799000	0.37691	0.4782:0.1578:0.364:0.0	5.178	0.14469	467	0.78285	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1321.33	34	chr9	135495592	.	A	T	1321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.846;DP=711;ExcessHet=0;FS=0.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=-0.76;SOR=0.498	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1335,0,973	18	0	1	0
chr9	135778444	135778444	A	G	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon21:c.A2408G:p.E803G,KCNT1:NM_020822:exon22:c.A2543G:p.E848G	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	9	1508	5	0	0	5	0.00165508	.	.	.	134804	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.783	0.523026545111	0.0022	0.00119808	0.0016	0.0004	0.0024	0	0	0.0028	0	0.0008	0.0011643	180	154602	rs149804567	0.0030	0.0029	0.0031	0.0029	0.0077	0.0029	0.0029	0.0059	0.0053	0.0006	0.0041	0.0002	0	0.0008	0.0077	0.0034	0.0031	0.0008	0.0023	0.0023	0.0022	0.0024	0.0044	0.0021	0.0020	0.0036	0.0033	0.0006	0.0011	0.0044	0.0003	0	0.0010	0.0102	0.0035	0.0024	0.0010	0.001	0.78490	D	0.006	0.70582	D	0.864	0.47514	P	0.437	0.45591	B	0.000000	0.84330	U	0.000000	1	0.81001	D	2.255	0.64187	M	-1.17	0.78199	T	-6.34	0.90937	D	0.694	0.70351	0.067	0.83563	D	0.457	0.78877	T	10	0.021965742	0.00537	T	0.523027	0.95475	D	0.783	0.92787	.	.	0.862925295636	0.86159	0.9382602385644435	0.93807	1.09044902696	0.77412	0.687397241592	0.65332	T	0.310908	0.68283	T	0.0329264	0.56114	T	0.276439	0.86929	D	0.0289352975995204	0.01827	T	0.958604	0.84374	D	0.48417372	0.66153	0.6271475	0.78261	0.6860348	0.77297	0.65704966	0.79918	-9.882	0.73732	D	0.6600228610296959	0.73337	0.660	0.74697	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.873173	0.79859	27.2	0.9991844980658271	0.98586	0.97451	0.74834	D	AEFDBI	0.904012	0.85379	D	0.576795481824302	0.71729	5.69525	0.557929126426649	0.71950	5.733673	0.999998898392798	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	9.003000	0.93114	9.087000	0.78733	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.162	0.64988	539	0.73055	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.008065	0.021505	0.005848	0.009317	0.000000	0.027778	0.000000	0.003937	0.02632	817.33	35	chr9	135778444	.	A	G	817.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.404;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.141;SOR=0.686	GT:AD:DP:GQ:PL	0/1:30,32:62:99:831,0,733	18	0	1	0
chr9	136363706	136363706	-	CGCAGCAACCTCGGCGCGCCGCGCAGCGCAGTT	exonic	DNLZ	.	nonframeshift insertion	DNLZ:NM_001080849:exon1:c.8_9insAACTGCGCTGCGCGGCGCGCCGAGGTTGCTGCG:p.L13_S14insRTALRGAPRLL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.522e-06	4.729e-06	6.942e-06	1.169e-05	1.507e-05	2.53e-06	7e-07	4.01e-06	2.11e-06	0	0	0	0	0	0	1.507e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	137.34	9	chr9	136363706	.	C	CCGCAGCAACCTCGGCGCGCCGCGCAGCGCAGTT	137.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=218;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0301;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.464;SOR=2.712	GT:AD:DP:GQ:PL	0/1:5,4:9:99:151,0,160	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:84,39:123:99:226,0,1664	2	0	17	0
chr10	4963511	4963511	A	C	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon1:c.A67C:p.T23P	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0038472024217	0.0002	0.000399361	0.0002	0	8.64e-05	0	0	0.0004	0	0.0002	0.0002264	35	154602	rs200972237	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0003	0	0.0002	0	0	5.617e-05	0.0009	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.842e-05	0	0	0	0	0	0	0.0005	0	0	0.0	0.91255	D	0.0	0.92824	D	0.398	0.34801	B	0.465	0.46596	P	0.000018	0.62929	D	0.000000	0.608687	0.32602	D	4.52	0.99038	H	1.18	0.37746	T	-5.48	0.85692	D	0.59	0.61002	-0.5191	0.67947	T	0.203	0.55989	T	10	0.30539104	0.48056	T	0.003847	0.09024	T	0.244	0.55061	.	.	0.383921772103	0.37999	0.7943639314794088	0.79389	0.26189592985	0.28750	.	.	.	0.230523	0.59662	T	-0.141857	0.29595	T	-0.0966061	0.63660	T	0.513270974159241	0.33117	D	0.871013	0.57621	D	0.9850899	0.99473	0.9713172	0.99521	0.9850899	0.99473	0.9713172	0.99521	-12.681	0.88006	D	.	.	0.818	0.78148	P	.	.	4.075172	0.60581	24.2	0.98800026884367931	0.46445	0.98118	0.79751	D	AEFGBHCI	0.652537	0.62590	D	-0.0391411135443243	0.40088	2.374872	-0.200813074144824	0.31508	1.783775	0.999999988498531	0.74766	0.608746	0.35421	0	0.610034	0.51514	0	0.731467	0.93227	0	0.620846	0.47308	0	.	.	2.46	2.46	0.29032	3.210000	0.50832	8.162000	0.76739	0.560000	0.28382	0.993000	0.37899	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	6.714	0.22482	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1610.33	33	chr10	4963511	.	A	C	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.893;DP=854;ExcessHet=0;FS=6.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.72;MQRankSum=-0.587;QD=11.75;ReadPosRankSum=-1.224;SOR=1.227	GT:AD:DP:GQ:PL	0/1:77,60:137:99:1624,0,2110	18	0	1	0
chr10	6428253	6428253	C	T	exonic	PRKCQ	.	nonsynonymous SNV	PRKCQ:NM_001242413:exon17:c.G1886A:p.R629K,PRKCQ:NM_001282645:exon17:c.G1700A:p.R567K,PRKCQ:NM_001323266:exon17:c.G1700A:p.R567K,PRKCQ:NM_001282644:exon18:c.G1967A:p.R656K,PRKCQ:NM_001323265:exon18:c.G2075A:p.R692K,PRKCQ:NM_006257:exon18:c.G2075A:p.R692K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00664877834895	.	0.000199681	4.942e-05	0	0	0	0	8.99e-05	0	0	4.53e-05	7	154602	rs200838412	4.173e-05	4.173e-05	3.811e-05	4.538e-05	5.974e-05	3.31e-05	3.001e-05	3.804e-05	3.407e-05	5.974e-05	0	0	0	0	0	4.856e-05	8.279e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.572	0.06145	T	1.0	0.02639	T	0.0	0.02946	B	0.0	0.04355	B	0.004025	0.34196	N	0.361069	0.94464	0.26981	N	1.195	0.30194	L	0.12	0.61089	T	-0.63	0.18459	N	0.077	0.07811	-1.0380	0.17924	T	0.081	0.31854	T	10	0.06587961	0.08955	T	0.006649	0.17557	T	0.036	0.09122	.	.	0.408277909041	0.40440	0.5983314243466326	0.59764	0.463009557477	0.45817	0.307067394257	0.11463	T	0.01184	0.38674	T	-0.288033	0.09835	T	-0.465612	0.25990	T	0.0478412620723248	0.05115	T	0.830117	0.50788	T	0.31419683	0.54146	0.13686258	0.32729	0.31419683	0.54146	0.13686258	0.32728	-4.729	0.34835	T	.	.	0.079	0.21353	B	.;.;.;.	.;.;.;.	1.749857	0.22263	15.55	0.85300343761228392	0.15808	0.55513	0.29883	D	AEFCI	0.126206	0.24304	N	-0.553501081816017	0.20375	1.07356	-0.364559675677341	0.26063	1.437181	0.00953452020154112	0.11871	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.56	2.69	0.30923	1.568000	0.36027	2.235000	0.31564	0.599000	0.40250	0.997000	0.40164	0.981000	0.30433	0.877000	0.41881	0.0:0.7184:0.0:0.2816	9.402	0.37603	970	0.06235	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C theta, catalytic domain;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C theta, catalytic domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	33	chr10	6428253	.	C	T	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=705;ExcessHet=0;FS=1.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.356;SOR=0.552	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1418,0,959	18	0	1	0
chr10	11866627	11866627	C	T	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon3:c.C235T:p.P79S	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0185654607976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015764709	2.052e-06	2.052e-06	4.084e-06	0	6.708e-05	5.5e-07	1.5e-07	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.412	0.14456	T	0.615	0.39791	P	0.188	0.36237	B	0.231006	0.15920	N	0.595257	0.999843	0.20103	N	1.385	0.34509	L	3.18	0.07478	T	-1.39	0.73788	N	0.188	0.20528	-1.0299	0.20487	T	0.019	0.08173	T	10	0.10825345	0.20143	T	0.018565	0.40677	T	0.031	0.07369	0.265	0.21103	0.130388298395	0.12655	0.10351802282758282	0.10281	0.635420910313	0.57360	0.221822753549	0.01418	T	0.02111	0.42404	T	-0.404496	0.02163	T	-0.64296	0.09455	T	0.187770202755928	0.19712	T	0.70393	0.34443	T	0.032739036	0.03357	0.050243437	0.07847	0.032739036	0.03356	0.050243437	0.07846	-3.513	0.16614	T	.	.	0.129	0.27642	B	.;.;.	.;.;.	1.062667	0.14447	11.02	0.99207359651515803	0.55472	0.29926	0.23950	N	AEFDBI	0.141252	0.26337	N	-0.248495261562357	0.31164	1.744711	-0.25191197664086	0.29705	1.666446	0.610114506709223	0.21797	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.34	2.17	0.26736	1.567000	0.36016	1.373000	0.25972	-0.182000	0.10109	0.327000	0.25564	0.647000	0.25944	0.477000	0.28498	0.2363:0.5335:0.2302:0.0	10.506	0.44024	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	926.33	35	chr10	11866627	.	C	T	926.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.86;DP=693;ExcessHet=0;FS=4.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-3.08;SOR=0.728	GT:AD:DP:GQ:PL	0/1:42,38:80:99:940,0,1107	18	0	1	0
chr10	19607878	19607878	-	A	exonic	MALRD1	.	frameshift insertion	MALRD1:NM_001142308:exon35:c.6047dupA:p.L2017Afs*2	.	437	1082	1	2	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs766936322	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	3.17e-05	8.407e-05	7.95e-05	0	0	0.0009	0.0002	0.0002	2.525e-05	0.0001	0.0001	0.0002	8.087e-05	0.0002	7.588e-05	6.291e-05	0.0001	9.903e-05	2.415e-05	0	0	0.0003	0	0	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1886.29	55	chr10	19607878	.	C	CA	1886.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=833;ExcessHet=0;FS=3.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.466;SOR=0.425	GT:AD:DP:GQ:PL	0/1:49,61:110:99:1900,0,1491	18	0	1	0
chr10	24545930	24545930	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001321681:exon14:c.G2792A:p.S931N,KIAA1217:NM_001282768:exon18:c.G3656A:p.S1219N,KIAA1217:NM_001098500:exon19:c.G3401A:p.S1134N,KIAA1217:NM_001282767:exon19:c.G3731A:p.S1244N,KIAA1217:NM_019590:exon21:c.G5438A:p.S1813N	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0126042120998	0.0003	0.00219649	0.0013	0	0.0002	0.0002	0	0.0004	0.0011	0.0076	0.0011449	177	154602	rs143473670	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0006	0.0064	0.0063	0	0.0002	0.0007	2.519e-05	1.872e-05	0.0049	0.0002	0.0012	0.0069	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0007	0.0072	0.0064	2.408e-05	0.0493	0.0003	0.0003	0.0002	0	0	0.0004	0.0014	0.0093	0.005	0.91255	D	0.14	0.66756	T	0.675	0.51611	P	0.372	0.51600	B	0.000515	0.43753	D	0.255120	1	0.81001	D	2.045	0.56016	M	1.1	0.39050	T	-1.05	0.33197	N	0.125	0.13341	-0.8415	0.52547	T	0.222	0.58614	T	10	0.0047720373	0.00101	T	0.012604	0.31316	T	0.071	0.20720	.	.	0.640118062485	0.63715	0.39549210144416014	0.39464	0.232989355032	0.25837	0.399860739708	0.25050	T	0.132966	0.46337	T	-0.43888	0.01313	T	-0.398351	0.33576	T	0.0396142347427551	0.03620	T	0.846715	0.60664	T	0.22282	0.44889	0.1902536	0.42418	0.22282	0.44889	0.1902536	0.42417	-6.413	0.49610	T	.	.	0.197	0.41977	B	.;.;.;.;.	.;.;.;.;.	3.294490	0.45196	22.1	0.99283069216059638	0.57973	0.91496	0.53653	D	AEFBCI	0.710878	0.66450	D	0.50443796716831	0.67350	5.070152	0.55432935422008	0.71699	5.694855	0.999984786140545	0.51787	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	4.978000	0.63517	6.415000	0.55603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.446	0.94840	941	0.13089	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	2201.33	38	chr10	24545930	.	G	A	2201.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=823;ExcessHet=0;FS=6.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.23;SOR=1.084	GT:AD:DP:GQ:PL	0/1:104,78:182:99:2215,0,2698	18	0	1	0
chr10	25175499	25175499	G	A	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon1:c.G79A:p.D27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0610007658129	.	0.000199681	8.735e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs550687410	3.426e-06	4.104e-06	2.726e-06	4.132e-06	5.976e-05	1e-06	7.3e-07	9.9e-06	3.7e-06	5.976e-05	0	0	0	0	0	0	3.315e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.341	0.17964	T	0.553	0.38185	P	0.059	0.26602	B	0.573786	0.11212	N	0.771452	0.74765	0.29671	N	0.69	0.16971	N	-0.15	0.65192	T	-0.49	0.15578	N	0.422	0.46180	-0.8888	0.49038	T	0.140	0.45828	T	10	0.12563601	0.23877	T	0.061001	0.68189	D	0.155	0.40530	0.141	0.04462	0.544465720096	0.54100	0.28474325269575573	0.28387	1.02746352211	0.75325	0.46606618166	0.34141	T	0.006198	0.05637	T	-0.372655	0.03461	T	-0.589679	0.13694	T	0.0970769916248379	0.12031	T	0.611639	0.23235	T	0.12291407	0.28872	0.14003214	0.33391	0.12291407	0.28872	0.14003214	0.33390	-4.465	0.30428	T	.	.	0.118	0.23986	B	.	.	3.194204	0.43412	21.7	0.99618928488262004	0.75293	0.69910	0.34376	D	AEFDBCI	0.509984	0.53922	D	-0.0112242132178896	0.41347	2.471514	0.10487946743647	0.44798	2.754615	0.99997610696266	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.72	4.72	0.59248	2.844000	0.47946	11.346000	0.92564	0.614000	0.49286	0.938000	0.32564	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	15.217	0.72964	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1655.33	34	chr10	25175499	.	G	A	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.333;SOR=0.759	GT:AD:DP:GQ:PL	0/1:38,59:97:99:1669,0,924	18	0	1	0
chr10	27940663	27940663	C	T	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon6:c.G461A:p.R154H,ARMC4:NM_001312689:exon8:c.G962A:p.R321H,ARMC4:NM_001290020:exon13:c.G1886A:p.R629H,ARMC4:NM_018076:exon13:c.G1886A:p.R629H	Ciliary dyskinesia, primary, 23, Autosomal recessive	437	1084	1	0	0	1	0.000461042	.	.	.	2724388	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.0555541961788	.	.	0.0001	0	0	0.0001	0	0.0002	0	0.0001	9.7e-05	15	154602	rs200127444	3.352e-05	3.42e-05	2.859e-05	3.85e-05	8.944e-05	2.566e-05	2.312e-05	2.985e-05	1.804e-05	0	8.944e-05	3.826e-05	5.04e-05	9.36e-05	0	2.608e-05	4.968e-05	5.797e-05	6.567e-06	1.312e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.09	0.31987	T	0.083	0.41405	T	0.991	0.64070	D	0.781	0.57337	P	0.000049	0.53742	D	0.199089	1	0.81001	D	2.655	0.77738	M	-0.46	0.70014	T	-3.52	0.68412	D	0.261	0.29544	-0.1958	0.77780	T	0.433	0.77400	T	10	0.4708116	0.59850	T	0.055554	0.66278	D	0.445	0.74727	.	.	0.751722793294	0.74947	0.45568859813155155	0.45486	0.334685067799	0.35479	0.612229585648	0.54632	T	0.036128	0.23985	T	-0.0608526	0.42773	T	-0.109852	0.62624	T	0.62289822101593	0.37325	D	0.932307	0.74741	D	0.18000224	0.39099	0.13934085	0.33249	0.16128056	0.36126	0.14997564	0.35389	-9.01	0.67762	D	.	.	0.242	0.47665	B	.	.	4.099795	0.61118	24.3	0.99843080508588689	0.92316	0.97230	0.73460	D	AEFI	0.760002	0.69816	D	0.236448570553788	0.52972	3.468376	0.155749874950354	0.47448	2.974834	0.993621760669401	0.33289	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.24	4.3	0.50540	5.818000	0.68915	3.990000	0.40980	0.594000	0.32500	1.000000	0.71638	0.999000	0.35428	0.031000	0.13245	0.0:0.8632:0.1368:0.0	15.793	0.78155	755	0.51144	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2329.33	38	chr10	27940663	.	C	T	2329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.345;DP=806;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.22;SOR=0.611	GT:AD:DP:GQ:PL	0/1:87,91:178:99:2343,0,2173	18	0	1	0
chr10	35640371	35640371	-	GCGCCCCCA	exonic	FZD8	.	nonframeshift insertion	FZD8:NM_031866:exon1:c.1058_1059insTGGGGGCGC:p.A356_A357insGGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423225902	1.187e-06	3.423e-06	2.217e-06	0	1.312e-06	0	0	.	.	0	0	0	0	0	0	1.312e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	487.8	33	chr10	35640371	.	C	CGCGCCCCCA	487.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.674;DP=346;ExcessHet=0.119;FS=2.969;InbreedingCoeff=-0.0398;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=23.23;ReadPosRankSum=0;SOR=0.18	GT:AD:DP:GQ:PL	0/1:1,8:9:18:320,0,18	17	0	2	0
chr10	43481722	43481722	C	T	exonic	ZNF487	.	nonsynonymous SNV	ZNF487:NM_001355447:exon3:c.C436T:p.R146C,ZNF487:NM_001355449:exon3:c.C331T:p.R111C,ZNF487:NM_001355450:exon3:c.C331T:p.R111C,ZNF487:NM_001355444:exon4:c.C424T:p.R142C,ZNF487:NM_001355445:exon4:c.C424T:p.R142C,ZNF487:NM_001355448:exon4:c.C532T:p.R178C,ZNF487:NM_001355446:exon5:c.C424T:p.R142C	.	433	1082	5	2	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00358775226534	.	0.000199681	0.0013	0	0.0043	0	0	0	0	0.0028	0.0001294	20	154602	rs531827230	0.0004	0.0003	0.0002	0.0005	0.0024	0.0003	0.0003	0.0021	0.0019	0	8.667e-05	0	0.0001	0	0.0015	0.0001	0.0004	0.0024	0.0002	0.0002	0.0001	0.0003	0.0023	0.0001	0.0001	0.0013	0.0010	2.409e-05	0	6.545e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0023	0.005	0.63226	D	0.02	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.990198	0.24202	N	.	.	.	2.2	0.18570	T	-1.42	0.35991	N	0.13	0.12484	-1.0307	0.20227	T	0.029	0.12409	T	7	0.007925361	0.00180	T	0.003588	0.08216	T	0.118	0.32913	.	.	0.0762999501168	0.06990	.	.	1.35134283137	0.84084	0.265641987324	0.05581	T	.	.	.	-0.369538	0.03617	T	-0.466871	0.25853	T	0.0587710347603347	0.06973	T	0.527447	0.17405	T	.	.	.	.	.	.	.	.	-3.982	0.23533	T	.	.	.	.	.	.;.	.;.	1.713987	0.21823	15.36	0.89416181618507928	0.18778	0.00323	0.01694	N	AEFGBCI	0.048301	0.08228	N	-0.762117365444563	0.14307	0.7115589	-0.901211671129335	0.12065	0.6184949	0.989100072397463	0.31724	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	1.71	1.71	0.23429	1.287000	0.32889	-12.359000	0.00531	0.434000	0.20985	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	9.418	0.37693	842	0.36989	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3245.83	33	chr10	43481722	.	C	T	3245.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=867;ExcessHet=0.119;FS=1.046;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.48;SOR=0.787	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1710,0,993	17	0	2	0
chr10	46329920	46329920	C	A	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon17:c.C1732A:p.Q578K,ANTXRL:NM_001354208:exon19:c.C838A:p.Q280K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.227e-07	6.84e-07	0	1.465e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.05805	T	.	.	.	.	.	.	.	.	.	.	0.987805	0.40652	D	1.355	0.33814	L	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.06710389	0.09300	T	.	.	.	.	.	.	.	0.0954503805726	0.09146	0.1350953353567757	0.13433	.	.	.	.	.	0.001092	0.00611	T	-0.318661	0.07007	T	-0.695511	0.06074	T	.	.	.	0.339966	0.07337	T	0.049465477	0.08786	0.06439283	0.12899	0.049465477	0.08786	0.06439283	0.12898	-4.906	0.35802	T	.	.	0.087	0.11317	B	.	.	0.121548	0.05188	1.703	0.76162119038858755	0.11358	0.00456	0.02204	N	AEFDGBI	0.046102	0.07616	N	.	.	.	.	.	.	0.99881393713354	0.37733	0.487112	0.14033	0	0.59043	0.45803	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	2.27	-2.46	0.06089	-0.871000	0.04331	-1.236000	0.05946	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4087:0.3103:0.0:0.281	2.387	0.04103	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	7052.83	130	chr10	46329920	.	C	A	7052.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.99;DP=2170;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.289;SOR=0.725	GT:AD:DP:GQ:PL	0/1:130,139:269:99:3892,0,3367	17	0	2	0
chr10	48976824	48976824	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon59:c.C9136T:p.H3046Y	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00906952937368	.	0.000199681	0.0010	0	0.0031	0	0	0	0	0.0055	9.06e-05	14	154602	rs565549386	0.0001	0.0001	8.723e-05	0.0001	0.0011	8.75e-05	8.2e-05	0.0009	0.0009	0	0	0	0	0	0.0007	3.989e-05	0.0002	0.0011	6.565e-05	6.561e-05	5.138e-05	8.057e-05	0.0008	3.514e-05	2.614e-05	0.0003	0.0002	0	0	6.533e-05	0	0	0	0	7.349e-05	0	0.0008	0.839	0.02818	T	0.459	0.12632	T	0.315	0.32886	B	0.029	0.21540	B	0.180735	0.17110	N	0.603511	0.999696	0.26840	N	1.01	0.25309	L	1.62	0.28189	T	0.37	0.03639	N	0.148	0.15046	-1.0309	0.20163	T	0.094	0.35578	T	9	0.007259369	0.00165	T	0.00907	0.23869	T	0.119	0.33137	0.461	0.52916	0.0666544352282	0.05500	0.3636899630063193	0.36282	.	.	0.509078025818	0.40093	T	0.004228	0.03640	T	-0.437543	0.01337	T	-0.436655	0.29183	T	0.0281064409927212	0.01703	T	0.787021	0.42574	T	0.049080648	0.08660	0.05367981	0.09090	0.049080648	0.08659	0.05367981	0.09089	-4.947	0.36259	T	.	.	0.078	0.06756	B	.	.	2.735971	0.35827	20.0	0.82837682433971382	0.14401	0.18694	0.20364	N	AEFDBCI	0.161376	0.28743	N	-0.0352069164638722	0.40265	2.388316	-0.0140503007391816	0.39080	2.311737	0.0414398659266497	0.14484	0.706298	0.61202	0	0.702456	0.74545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	4.7	0.58776	0.817000	0.26938	5.890000	0.50749	0.599000	0.40250	0.008000	0.17931	1.000000	0.68203	0.985000	0.61073	0.0:0.7072:0.1912:0.1016	6.293	0.20277	970	0.06235	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	858.33	34	chr10	48976824	.	C	T	858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.017;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-1.462;SOR=0.743	GT:AD:DP:GQ:PL	0/1:43,35:78:99:872,0,1112	18	0	1	0
chr10	60070826	60070826	T	C	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.A10055G:p.E3352G	.	420	1077	25	0	0	25	0.0114732	.	.	.	207749	ANK3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	0.0230743597086	0.0040	0.00119808	0.0038	0.0008	0.0018	0	0.0012	0.0058	0.0022	0.0025	0.0038292	592	154602	rs61845768	0.0046	0.0046	0.0045	0.0047	0.0161	0.0045	0.0045	0.0135	0.0125	0.0010	0.0034	0.0117	2.519e-05	0.0014	0.0161	0.0050	0.0051	0.0032	0.0033	0.0033	0.0034	0.0032	0.0051	0.0031	0.0030	0.0046	0.0045	0.0007	0	0.0033	0.0121	0	0.0005	0.0204	0.0051	0.0052	0.0033	0.132	0.26519	T	.	.	.	0.018	0.17786	B	0.007	0.12992	B	0.233434	0.15868	N	0.518786	1	0.81001	D	1.935	0.51832	L	-0.11	0.64445	T	-1.62	0.38924	N	0.088	0.06587	-1.0656	0.10409	T	0.084	0.32986	T	10	0.0064894557	0.00147	T	0.023074	0.46020	T	0.019	0.03383	.	.	0.373580267183	0.36973	0.1948335457882627	0.19401	0.163701473384	0.18462	0.27787655592	0.07198	T	0.331637	0.70169	T	-0.513479	0.00480	T	-0.508849	0.21434	T	0.00504151050206084	0.00054	T	0.743826	0.36376	T	0.054236542	0.10379	0.0780608	0.17447	0.054236542	0.10378	0.0780608	0.17447	-4.684	0.33210	T	.	.	0.067	0.02428	B	.	.	2.264217	0.28933	17.96	0.98760836750782177	0.45816	0.84945	0.44041	D	AEFBI	0.241973	0.36350	N	-0.445523196899912	0.23892	1.286245	-0.285032848571021	0.28592	1.595331	0.992646313027181	0.32916	0.553676	0.25195	0	0.573888	0.26702	0	0.573078	0.19857	0	0.620846	0.47308	0	.	.	5.48	1.78	0.23918	0.724000	0.25624	0.306000	0.17032	-0.112000	0.15009	1.000000	0.71638	0.025000	0.21018	0.996000	0.76049	0.0:0.1421:0.2937:0.5642	5.529	0.16262	720	0.55521	.	.	.	.	.	.	Likely benign	0	0	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	0.012588	0.005051	0.012228	0.029240	0.000000	0.008621	0.003049	0.003788	0.02632	2353.33	35	chr10	60070826	.	T	C	2353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.781;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2.06;SOR=0.718	GT:AD:DP:GQ:PL	0/1:91,88:179:99:2367,0,2420	18	0	1	0
chr10	71675143	71675143	A	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon14:c.A1481T:p.E494V,CDH23:NM_001171931:exon14:c.A1481T:p.E494V,CDH23:NM_022124:exon14:c.A1481T:p.E494V	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00786485937882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.20877	T	0.005	0.12996	B	0.014	0.16862	B	0.012696	0.29088	N	0.330702	0.982686	0.39921	D	0.515	0.13537	N	.	.	.	.	.	.	0.225	0.33469	-0.8492	0.52024	T	0.209	0.56893	T	9	0.19516814	0.35357	T	0.007865	0.20851	T	0.037	0.09474	0.421	0.46365	0.796781694574	0.79489	0.44617100931189085	0.44535	.	.	0.324605822563	0.14119	T	0.023921	0.54598	T	-0.104172	0.35733	T	-0.387413	0.34856	T	0.728453040122986	0.42130	D	0.838616	0.51177	T	0.19576438	0.41377	0.24003726	0.49368	0.19576438	0.41377	0.24003726	0.49367	-7.981	0.60941	D	.	.	0.114	0.23500	B	.;.;.;.;.;.	.;.;.;.;.;.	3.253245	0.44463	21.9	0.98503620246316337	0.42252	0.87894	0.47594	D	AEFDBI	0.387484	0.46745	N	-0.00134176017179786	0.41793	2.50635	0.175836241482385	0.48527	3.067406	0.999998823710472	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	4.894000	0.62897	11.175000	0.88104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	1.0:0.0:0.0:0.0	16.002	0.80101	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2816.33	33	chr10	71675143	.	A	T	2816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.856;DP=879;ExcessHet=0;FS=3.063;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.86;ReadPosRankSum=-0.939;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,74:135:99:0|1:71675143_A_T:2830,0,2332:71675143	18	0	1	0
chr10	73516551	73516551	G	A	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon18:c.C3704T:p.T1235M,USP54:NM_001350995:exon18:c.C3584T:p.T1195M,USP54:NM_001378208:exon18:c.C3704T:p.T1235M,USP54:NM_001378209:exon18:c.C3704T:p.T1235M,USP54:NM_001378210:exon18:c.C3704T:p.T1235M,USP54:NM_152586:exon19:c.C3875T:p.T1292M	.	.	.	.	.	.	.	.	.	.	.	2427861	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0055289534368	7.7e-05	0.000199681	7.413e-05	0	0.0002	0.0001	0	7.492e-05	0	6.056e-05	6.47e-05	10	154602	rs138525330	4.994e-05	4.994e-05	5.036e-05	4.95e-05	0.0002	4.059e-05	3.734e-05	8.861e-05	6.427e-05	0	0.0002	0	2.519e-05	0	0.0002	4.766e-05	9.934e-05	4.637e-05	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0002	1.714e-05	1.129e-05	1.171e-05	6.25e-06	0	0	6.534e-05	0	0.0002	0	0	4.41e-05	0.0005	0	0.191	0.21066	T	0.083	0.41405	T	0.081	0.24602	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	1.91	0.23283	T	-0.43	0.14390	N	0.089	0.18103	-1.0379	0.17954	T	0.053	0.22501	T	9	0.028637588	0.00995	T	0.005529	0.14258	T	0.051	0.14325	.	.	0.0551355673512	0.04727	0.1581554558648949	0.15736	0.168900827507	0.19044	0.230015218258	0.01969	T	0.004844	0.04259	T	-0.43715	0.01344	T	-0.66874	0.07689	T	0.0290573012589812	0.01845	T	0.608739	0.24845	T	0.0129468925	0.00045	0.040951807	0.04543	0.0129468925	0.00045	0.040951807	0.04543	-5.146	0.38388	T	.	.	0.086	0.10691	B	.;.	.;.	0.929736	0.13050	9.553	0.44482775356949716	0.03423	0.12674	0.17412	N	AEFDBI	0.056852	0.10542	N	-1.21247686091911	0.04817	0.2182527	-1.25080951375517	0.05119	0.2431628	0.0757843059306088	0.15707	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.88	0.786	0.17734	0.218000	0.17407	2.113000	0.30672	-0.781000	0.03322	0.000000	0.06391	0.994000	0.32194	0.195000	0.21750	0.2436:0.0993:0.6571:0.0	9.174	0.36259	686	0.59327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1777.33	35	chr10	73516551	.	G	A	1777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=762;ExcessHet=0;FS=5.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.271;SOR=1.253	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1791,0,1369	18	0	1	0
chr10	73799201	73799201	G	A	exonic	ZSWIM8	.	nonsynonymous SNV	ZSWIM8:NM_001242487:exon21:c.G4361A:p.R1454Q,ZSWIM8:NM_001242488:exon21:c.G4361A:p.R1454Q,ZSWIM8:NM_001367799:exon21:c.G4376A:p.R1459Q,ZSWIM8:NM_015037:exon21:c.G4376A:p.R1459Q	.	.	.	.	.	.	.	.	.	.	.	2689258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.00632874823433	.	.	3.287e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770311888	1.442e-05	1.505e-05	9.558e-06	1.934e-05	0.0007	9.27e-06	7.86e-06	0.0002	0.0001	0	0	0	0	0	0.0007	6.31e-06	0	0.0001	1.971e-05	1.97e-05	3.855e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.146	0.25055	T	0.598	0.08106	T	0.978	0.58756	D	0.356	0.43023	B	0.000003	0.62929	U	0.000000	0.99988	0.50402	D	1.04	0.26193	L	0.96	0.42888	T	0.2	0.04861	N	0.519	0.54932	-1.0663	0.10246	T	0.097	0.36289	T	10	0.20939654	0.37301	T	0.006329	0.16639	T	0.162	0.41843	0.28	0.23483	0.0675242888579	0.06100	0.19362761630031078	0.19280	0.688784453109	0.60452	0.489183008671	0.37325	T	0.005552	0.15893	T	-0.239727	0.15385	T	-0.345459	0.39725	T	0.25549810578335	0.23118	T	0.956004	0.83469	D	0.26722863	0.49795	0.23949231	0.49300	0.26722863	0.49794	0.23949231	0.49299	-4.641	0.32683	T	.	.	0.102	0.21503	B	.;.;.;.	.;.;.;.	4.510164	0.70621	25.5	0.99893788955866136	0.96742	0.99371	0.95155	D	AEFDBHCI	0.938690	0.93823	D	0.527850669230569	0.68743	5.259376	0.622690702910171	0.76593	6.519375	0.999999999999647	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	9.078000	0.93430	11.813000	0.96995	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.555	0.95331	545	0.72614	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1424.33	34	chr10	73799201	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=1038;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=-0.521;SOR=1.112	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1438,0,819	18	0	1	0
chr10	75058442	75058442	C	T	exonic	DUSP29	.	nonsynonymous SNV	DUSP29:NM_001003892:exon2:c.G73A:p.E25K,DUSP29:NM_001384909:exon3:c.G73A:p.E25K	.	407	1096	19	0	0	19	0.0085934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0061	0.00638978	0.0058	0.0063	0.0044	0	0.0009	0.0081	0.0077	0.0023	0.0060413	934	154602	rs149144570	0.0057	0.0057	0.0057	0.0058	0.0309	0.0056	0.0056	0.0272	0.0257	0.0069	0.0036	0.0103	0	0.0015	0.0309	0.0061	0.0069	0.0024	0.0062	0.0062	0.0063	0.0062	0.0094	0.0059	0.0058	0.0082	0.0077	0.0052	0.0011	0.0094	0.0092	0.0002	0.0004	0.0476	0.0074	0.0114	0.0019	0.14	0.25664	T	0.403	0.14865	T	0.013	0.16609	B	0.015	0.17295	B	0.408525	0.04577	N	1.423790	0.999998	0.08975	N	1.5	0.37844	L	3.52	0.04905	T	-0.2	0.10136	N	0.516	0.54671	-0.9397	0.42664	T	0.010	0.03673	T	10	0.0051972866	0.00113	T	.	.	.	0.088	0.25558	.	.	0.352693368174	0.34879	0.5131266602187011	0.51234	0.524778599701	0.50156	0.335973441601	0.15835	T	0.005079	0.04516	T	-0.569727	0.00222	T	-0.580762	0.14476	T	0.00517743212404494	0.00056	T	.	.	.	0.1254696	0.29413	0.11989663	0.28937	0.1254696	0.29413	0.11989663	0.28936	-4.661	0.32929	T	.	.	0.080	0.07889	B	.	.	1.313447	0.17168	13.00	0.96782459248031616	0.31079	0.65480	0.32752	D	AEFDGBHCI	0.102281	0.20521	N	-0.402137600320031	0.25394	1.378178	-0.277786410872894	0.28832	1.610606	0.999999761661216	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.13	4.2	0.48814	1.591000	0.36275	1.182000	0.24703	0.530000	0.24713	0.813000	0.29893	0.016000	0.20520	0.105000	0.18517	0.0:0.8339:0.1661:0.0	12.708	0.56440	23	0.98420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020645	0.025253	0.025815	0.032164	0.000000	0.068966	0.006098	0.000000	0.02632	1187.33	39	chr10	75058442	.	C	T	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=756;ExcessHet=0;FS=6.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.07;SOR=0.319	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1201,0,1688	18	0	1	0
chr10	86687073	86687073	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001080114:exon6:c.G349A:p.D117N,LDB3:NM_001171610:exon6:c.G694A:p.D232N,LDB3:NM_001171611:exon6:c.G694A:p.D232N,LDB3:NM_001368066:exon6:c.G349A:p.D117N,LDB3:NM_001368067:exon6:c.G349A:p.D117N,LDB3:NM_001368068:exon6:c.G349A:p.D117N	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1477	41	3	0	47	0.0156614	.	.	.	19772	Cardiovascular_phenotype|not_specified|not_provided|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4|Primary_dilated_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	.	0.0068	0.00778754	0.0046	0.0154	0.0047	0	0	0.0043	0.0078	0.0031	0.0042173	652	154602	rs121908338	0.0034	0.0034	0.0033	0.0036	0.0354	0.0033	0.0033	0.0314	0.0298	0.0170	0.0061	0.0101	2.519e-05	0.0001	0.0354	0.0028	0.0061	0.0026	0.0071	0.0071	0.0072	0.0070	0.0149	0.0067	0.0066	0.0140	0.0136	0.0149	0	0.0088	0.0092	0.0002	0.0002	0.0850	0.0032	0.0137	0.0033	0.018	0.55530	D	0.412	0.16328	T	0.004	0.41722	B	0.004	0.35687	B	.	.	.	.	0.0310938	0.81001	A	.	.	.	0.89	0.88847	T	-1.19	0.34596	N	0.462	0.63883	-0.5427	0.67062	T	0.220	0.58240	T	9	0.018208385	0.00394	T	.	.	.	0.272	0.58758	.	.	0.782186682139	0.78017	0.5485576590321062	0.54781	0.255360491483	0.28129	.	.	.	.	.	.	-0.375472	0.03326	T	-0.299792	0.44746	T	0.0266292465876057	0.01493	T	0.925707	0.72678	D	.	.	.	.	.	.	.	.	-4.356	0.32744	T	.	.	0.127	0.26917	B	.;.;.;.;.	.;.;.;.;.	2.734197	0.35793	19.99	0.99768232831970494	0.85666	0.99696	0.98747	D	AEFDBIJ	0.955079	0.97266	D	-0.143363625320167	0.35517	2.041124	0.0583927742227106	0.42479	2.570059	0.999999999991715	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	4.07	0.46726	6.872000	0.75336	7.421000	0.58716	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8521:0.1478	14.523	0.67449	893	0.26510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049849	0.116162	0.072011	0.052632	0.000000	0.008621	0.009146	0.000000	0.05263	1992.83	34	chr10	86687073	.	G	A	1992.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.63;DP=741;ExcessHet=0.119;FS=4.143;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=1.06;SOR=0.382	GT:AD:DP:GQ:PL	0/1:23,36:59:99:1032,0,501	17	0	2	0
chr10	89207084	89207084	C	A	exonic	CH25H	.	nonsynonymous SNV	CH25H:NM_003956:exon1:c.G209T:p.R70L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0255556221447	.	.	1.768e-05	0	0	0	0	3.174e-05	0	0	1.29e-05	2	154602	rs754946873	1.984e-05	1.984e-05	2.042e-05	1.926e-05	0.0019	1.392e-05	1.204e-05	0.0011	0.0008	0	0	0	0	0	0.0019	1.259e-05	6.624e-05	0	6.57e-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	0.098	0.30800	T	0.143	0.33219	T	0.601	0.39346	P	0.071	0.27960	B	0.003641	0.34662	N	0.250258	0.954362	0.37874	D	2.74	0.80084	M	-0.7	0.72785	T	-3.91	0.73042	D	0.351	0.39254	-0.4902	0.69001	T	0.237	0.60427	T	10	0.37685	0.53897	T	0.025556	0.48523	D	0.320	0.64215	0.535	0.64439	0.776756999272	0.77470	0.5827581332900078	0.58204	1.03671017739	0.75637	0.409693241119	0.26414	T	0.570445	0.85768	D	-0.00894121	0.50413	T	-0.186974	0.55872	T	0.964027404785156	0.66833	D	0.852415	0.53747	D	0.32794952	0.55302	0.36437735	0.61807	0.32794952	0.55302	0.36437735	0.61807	-6.879	0.53144	T	.	.	0.134	0.29004	B	.	.	4.018662	0.59339	24.1	0.99495899264780163	0.67744	0.89840	0.50569	D	ALL	0.620149	0.60532	D	0.25903966316996	0.54088	3.575247	0.343973141805969	0.58144	3.983463	0.999999990102869	0.74766	0.443343	0.08805	1	0.491552	0.07993	0	0.666236	0.60216	0	0.618803	0.45993	0	.	.	5.3	4.38	0.52019	1.998000	0.40415	3.873000	0.40198	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.961000	0.51904	0.0:0.8639:0.0:0.1361	10.901	0.46261	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2194.33	33	chr10	89207084	.	C	A	2194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=914;ExcessHet=0;FS=3.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-0.779;SOR=0.43	GT:AD:DP:GQ:PL	0/1:50,78:128:99:2208,0,1116	18	0	1	0
chr10	89403641	89403641	G	C	exonic	IFIT1	.	nonsynonymous SNV	IFIT1:NM_001548:exon2:c.G1366C:p.A456P,IFIT1:NM_001270927:exon3:c.G1366C:p.A456P,IFIT1:NM_001270928:exon3:c.G1273C:p.A425P,IFIT1:NM_001270929:exon3:c.G1273C:p.A425P,IFIT1:NM_001270930:exon3:c.G1273C:p.A425P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.110795725916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	2.873e-05	5.45e-06	0	2.99e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.99e-05	0	3.829e-05	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002024	0.37411	U	0.175846	1	0.81001	D	2.83	0.82355	M	-3.5	0.94658	D	-4.64	0.79998	D	0.645	0.65673	0.997	0.97141	D	0.909	0.96996	D	10	0.97418547	0.97121	D	0.110796	0.78832	D	0.826	0.94466	0.899	0.97729	0.985082141014	0.98492	0.8079779210656974	0.80752	0.450892133838	0.44853	0.462060928345	0.33594	T	0.809042	0.95208	D	0.494798	0.94145	D	0.472966	0.94068	D	0.994435429573059	0.85721	D	0.79652	0.44001	T	0.93677735	0.94920	0.82939625	0.90146	0.93677735	0.94920	0.82939625	0.90146	-8.518	0.64548	D	.	.	0.924	0.84509	P	.;.	.;.	4.423042	0.68520	25.2	0.99799447171960343	0.88461	0.97440	0.74764	D	AEFBI	0.901291	0.84780	D	0.673294674577491	0.77881	6.761252	0.556896627571631	0.71877	5.722491	0.992365808123254	0.32813	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	4.657000	0.61185	5.071000	0.47178	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.633000	0.32236	0.0787:0.0:0.9213:0.0	12.078	0.52954	883	0.28872	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	150.82	85	chr10	89403641	.	G	C	150.82	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.958;DP=1759;ExcessHet=0.3672;FS=162.58;InbreedingCoeff=-0.2146;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.5;SOR=9.855	GT:AD:DP:GQ:PL	0/1:82,32:118:14:14,0,1365	9	0	3	7
chr10	99797306	99797306	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon7:c.G842A:p.S281N	Dubin-Johnson syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	195580	not_specified|not_provided|Dubin-Johnson_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	.	0.0052	0.00399361	0.0066	0.0024	0.0053	0.0001	0.0088	0.0092	0.0093	0.0020	0.005595	865	154602	rs56131651	0.0068	0.0069	0.0070	0.0067	0.0111	0.0067	0.0067	0.0089	0.0081	0.0016	0.0053	0.0091	2.523e-05	0.0067	0.0111	0.0076	0.0065	0.0023	0.0054	0.0054	0.0053	0.0055	0.0074	0.0051	0.0050	0.0069	0.0067	0.0016	0.0099	0.0064	0.0081	0.0004	0.0073	0.0068	0.0074	0.0095	0.0027	0.142	0.25457	T	0.281	0.21612	T	0.883	0.48537	P	0.4	0.44481	B	0.000134	0.49741	D	0.134180	0.960121	0.38163	D	0	0.06538	N	0.77	0.49642	T	-0.51	0.15986	N	0.306	0.34552	-0.8202	0.53921	T	0.109	0.39509	T	10	0.0060174763	0.00135	T	.	.	.	0.112	0.31546	.	.	0.724806583605	0.72237	0.3081425537827062	0.30727	0.15302378806	0.17264	0.481644958258	0.36283	T	0.060603	0.31430	T	-0.515271	0.00468	T	-0.5078	0.21541	T	0.02477180599758	0.01243	T	0.721628	0.33490	T	0.11233808	0.26539	0.13723007	0.32808	0.1276766	0.29870	0.13723007	0.32807	-3.653	0.18627	T	.	.	0.194	0.41526	B	.;.	.;.	3.853465	0.55833	23.7	0.98265279446445175	0.39703	0.88793	0.48893	D	AEFBCI	0.679332	0.64339	D	0.349949557232264	0.58738	4.047859	0.412236943043777	0.62325	4.446194	0.999999982469538	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	3.271000	0.51311	11.807000	0.96822	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	15.121	0.72117	810	0.42761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.005051	0.004076	0.000000	0.000000	0.017241	0.024390	0.007576	0.02632	887.33	33	chr10	99797306	.	G	A	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.864;SOR=0.607	GT:AD:DP:GQ:PL	0/1:37,30:67:99:901,0,1043	18	0	1	0
chr10	101817872	101817872	C	T	exonic	OGA	.	nonsynonymous SNV	OGA:NM_001142434:exon1:c.G151A:p.A51T,OGA:NM_012215:exon1:c.G151A:p.A51T	.	416	1075	28	3	0	34	0.0155678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0035	0.00199681	0.0108	0.0044	0.0179	0	0	0.0199	0.0127	0.0056	0.0035899	555	154602	rs35402016	0.0065	0.0064	0.0067	0.0063	0.0089	0.0064	0.0063	0.0069	0.0068	0.0012	0.0040	0.0200	2.769e-05	0.0003	0.0089	0.0070	0.0075	0.0041	0.0044	0.0044	0.0047	0.0042	0.0064	0.0042	0.0040	0.0059	0.0057	0.0012	0.0055	0.0063	0.0156	0	9.409e-05	0.0034	0.0064	0.0047	0.0048	0.559	0.09319	T	0.573	0.10245	T	0.0	0.07471	B	0.0	0.06944	B	0.515498	0.11799	N	0.766530	0.999804	0.20292	N	.	.	.	1.5	0.31470	T	-0.22	0.10480	N	0.283	0.33469	-1.0217	0.23162	T	0.044	0.18742	T	10	0.00470984	0.00099	T	.	.	.	0.065	0.18881	.	.	0.371018649785	0.36716	0.20201343265260446	0.20118	0.375560854822	0.39016	0.679509758949	0.64197	T	0.079695	0.36190	T	-0.53914	0.00339	T	-0.542086	0.18092	T	0.00208325122828598	0.00021	T	0.694731	0.31009	T	0.14554179	0.33358	0.08372848	0.19209	0.14554179	0.33358	0.08372848	0.19209	-5.905	0.46112	T	.	.	0.078	0.15743	B	.;.;.;.	.;.;.;.	0.957512	0.13337	9.842	0.98970685633468913	0.49520	0.02720	0.07381	N	AEFDBHCIJ	0.036472	0.04866	N	-1.00177379992207	0.08567	0.4021656	-0.963460306942825	0.10612	0.5355824	0.999999996654916	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.71	1.76	0.23776	-0.709000	0.05132	-0.578000	0.08391	0.524000	0.24156	0.005000	0.17040	0.000000	0.08366	0.133000	0.19684	0.0:0.5247:0.1481:0.3272	5.444	0.15819	499	0.76092	.;.;.;.	.	.	.	.	chr10:103577629	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010288	0.005495	0.011050	0.008876	0.050000	0.017241	0.012579	0.003906	0.05263	1523.83	35	chr10	101817872	.	C	T	1523.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.336;DP=777;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.066;SOR=0.644	GT:AD:DP:GQ:PL	0/1:26,28:54:99:759,0,790	17	0	2	0
chr10	102066172	102066172	T	G	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.T698G:p.L233R	Hermansky-Pudlak syndrome 6	0	1445	75	2	0	79	0.0266083	.	.	.	207733	not_specified|Hermansky-Pudlak_syndrome_6|not_provided	MedGen:CN169374|MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0068	0.00359425	0.0075	0.0016	0.0042	0	0.0003	0.0093	0.0124	0.0127	0.0072121	1115	154602	rs36078476	0.0083	0.0083	0.0082	0.0084	0.0182	0.0082	0.0082	0.0154	0.0143	0.0014	0.0050	0.0306	2.519e-05	0.0003	0.0182	0.0084	0.0097	0.0119	0.0062	0.0062	0.0065	0.0059	0.0147	0.0059	0.0057	0.0120	0.0109	0.0016	0.0055	0.0093	0.0259	0.0002	0.0002	0.0068	0.0080	0.0085	0.0147	0.799	0.03125	T	0.309	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.295985	0.14683	N	0.686580	1	0.08975	N	2.3	0.65703	M	-1.05	0.76690	T	1.01	0.01387	N	0.259	0.29313	-0.9927	0.31906	T	0.163	0.49980	T	10	0.0056492984	0.00125	T	.	.	.	0.080	0.23350	.	.	0.566228512615	0.56287	0.2699281259415084	0.26905	0.699373421703	0.61030	0.295210570097	0.09689	T	0.119345	0.44081	T	-0.413859	0.01874	T	-0.356868	0.38415	T	0.00708485113408285	0.00081	T	0.511749	0.16382	T	0.059877582	0.12222	0.08159723	0.18555	0.059877582	0.12221	0.08159723	0.18554	-4.568	0.31767	T	0.055239806055071006	0.01217	0.118	0.23952	B	.	.	1.971509	0.25044	16.62	0.72400093041933844	0.09960	0.02923	0.07733	N	AEFDGBHCI	0.090656	0.18369	N	-0.900017182519168	0.10842	0.5201311	-0.815442134888358	0.14121	0.7362293	0.99999999969378	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.9	2.39	0.28492	1.501000	0.35301	4.406000	0.43264	-0.127000	0.13314	0.084000	0.22438	1.000000	0.68203	0.041000	0.14368	0.2679:0.0946:0.2798:0.3577	1.041	0.01462	527	0.73864	.	.	.	.	.	rs36078476	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012588	0.010101	0.010870	0.023392	0.050000	0.017241	0.009146	0.003788	0.05263	2852.83	35	chr10	102066172	.	T	G	2852.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.991;DP=843;ExcessHet=0.119;FS=9.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.04;SOR=0.331	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1448,0,1293	17	0	2	0
chr10	113651835	113651835	G	A	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001261463:exon7:c.C643T:p.R215W,NRAP:NM_001322945:exon7:c.C643T:p.R215W,NRAP:NM_006175:exon7:c.C643T:p.R215W,NRAP:NM_198060:exon7:c.C643T:p.R215W	.	431	1089	2	0	0	2	0.000917431	.	.	.	2809636	not_provided|not_specified|NRAP-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.277	0.0511482780344	0.0013	.	0.0010	0.0006	0.0006	0	0	0.0015	0	0.0008	0.0008667	134	154602	rs140934697	0.0006	0.0006	0.0006	0.0007	0.0024	0.0006	0.0006	0.0015	0.0012	0.0001	0.0006	3.829e-05	5.039e-05	7.496e-05	0.0024	0.0006	0.0006	0.0010	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0007	0.0007	0.0002	0	0.0008	0	0	0	0.0034	0.0009	0	0.0008	0.017	0.55530	D	0.033	0.53072	D	0.994	0.70673	D	0.84	0.63994	P	0.000038	0.55875	D	0.124578	0.975564	0.39200	D	2.395	0.69210	M	0.6	0.53731	T	-1.87	0.43717	N	0.505	0.54671	-0.3545	0.73424	T	0.311	0.68094	T	10	0.094029784	0.16687	T	0.051148	0.64539	D	0.277	0.59375	.	.	0.815953179804	0.81422	0.5836155178956934	0.58290	0.414972300621	0.42166	0.429854214191	0.29189	T	0.019372	0.15446	T	-0.266633	0.12135	T	-0.196309	0.54996	T	0.034271340484421	0.02684	T	0.823618	0.52386	T	0.3490688	0.56994	0.27648494	0.53593	0.3490688	0.56994	0.27648494	0.53592	-10.724	0.78123	D	.	.	0.345	0.57517	A	.;.;.;.	.;.;.;.	4.487599	0.70070	25.5	0.99873759770487736	0.95076	0.92242	0.55263	D	AEFI	0.724793	0.67398	D	0.544700352043934	0.69761	5.402923	0.476767884078999	0.66452	4.954111	0.43141099913205	0.20375	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.03	5.11	0.69188	5.709000	0.68037	4.923000	0.46060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:0.8329:0.1671	12.493	0.55251	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	0	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	629.33	33	chr10	113651835	.	G	A	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.954;SOR=0.631	GT:AD:DP:GQ:PL	0/1:43,27:70:99:643,0,1140	18	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:70,30:121:17:17,0,1097	6	0	12	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,31:124:99:0|1:124989533_G_A:988,0,3659:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:97,26:123:99:576,0,3257	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:111,22:133:99:261,0,2971	4	0	10	5
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	720.63	43	chr10	124989594	.	G	A	720.63	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-2.445;DP=2053;ExcessHet=2.0135;FS=10.856;InbreedingCoeff=-0.2058;MLEAC=6;MLEAF=0.167;MQ=55.3;MQRankSum=-7.601;QD=0.79;ReadPosRankSum=-3.679;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,17:144:99:0|1:124989594_G_A:178,0,5189:124989594	12	0	6	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,14:133:99:0|1:124994489_T_G:230,0,4945:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,18:146:99:0|1:124994489_T_G:366,0,5261:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,18:147:99:0|1:124994489_T_G:363,0,5283:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,21:152:99:0|1:124994523_G_A:488,0,5286:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:127,24:151:99:266,0,3515	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:134,26:160:99:252,0,3884	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,27:164:99:0|1:124994577_C_A:721,0,5586:124994577	0	0	19	0
chr10	128077635	128077635	G	A	exonic	PTPRE	.	nonsynonymous SNV	PTPRE:NM_001323357:exon15:c.G1084A:p.E362K,PTPRE:NM_130435:exon16:c.G1570A:p.E524K,PTPRE:NM_001316677:exon18:c.G1744A:p.E582K,PTPRE:NM_001323354:exon18:c.G1744A:p.E582K,PTPRE:NM_001323355:exon18:c.G1804A:p.E602K,PTPRE:NM_001323356:exon18:c.G1798A:p.E600K,PTPRE:NM_006504:exon19:c.G1744A:p.E582K,PTPRE:NM_001316676:exon20:c.G1777A:p.E593K	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00234187529655	.	.	8.512e-06	0	0	0	0	0	0	6.374e-05	6.5e-06	1	154602	rs768162013	1.234e-05	1.3e-05	8.179e-06	1.655e-05	0.0002	7.71e-06	6.36e-06	8.37e-06	5.04e-06	0	0	0	5.049e-05	0	0.0002	1.171e-05	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.11478	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000005	0.62929	D	0.060142	0.996825	0.46578	D	0.265	0.09922	N	2.81	0.10975	T	0.02	0.06739	N	0.156	0.16168	-0.9625	0.38704	T	0.011	0.04369	T	10	0.1076045	0.19994	T	0.002342	0.04535	T	0.159	0.41286	0.462	0.53079	0.436455679973	0.43264	0.23488814188065454	0.23403	0.302120608738	0.32542	0.369432389736	0.20750	T	0.145328	0.48239	T	-0.370415	0.03572	T	-0.600724	0.12750	T	0.356355905532837	0.27267	T	0.884012	0.60664	D	0.2580739	0.48855	0.13302416	0.31908	0.2580739	0.48855	0.13302416	0.31907	-4.098	0.27141	T	.	.	0.093	0.14706	B	.;.	.;.	3.241345	0.44242	21.9	0.99540504792978513	0.70461	0.80405	0.40051	D	AEFBCI	0.518691	0.54428	D	-0.177201129407839	0.34085	1.941357	0.0278467785863593	0.41013	2.456934	0.99999745333247	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.608075	0.38828	0	0.711	0.71501	0	.	.	4.3	3.3	0.36912	6.500000	0.73596	7.413000	0.58658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.3733:0.0:0.6266:0.0	3.470	0.07129	975	0.05339	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1020.33	33	chr10	128077635	.	G	A	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=712;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.559;SOR=0.885	GT:AD:DP:GQ:PL	0/1:41,34:75:99:1034,0,972	18	0	1	0
chr10	128104971	128104971	A	G	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.T5789C:p.L1930S,MKI67:NM_002417:exon13:c.T6869C:p.L2290S	.	435	1071	15	1	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0005	0.00159744	0.0017	0.0005	0.0088	0	0	0.0004	0.0011	0.0047	0.0015977	247	154602	rs142585399	0.0008	0.0008	0.0007	0.0009	0.0083	0.0007	0.0007	0.0076	0.0074	8.961e-05	0.0083	0	0	0	0.0017	0.0002	0.0010	0.0049	0.0008	0.0008	0.0008	0.0009	0.0052	0.0007	0.0007	0.0043	0.0040	0.0004	0	0.0052	0	0	0	0	0.0003	0.0005	0.0029	0.051	0.45039	T	0.052	0.47581	T	1.0	0.90584	D	0.999	0.92359	D	0.042810	0.01910	N	3.759080	1	0.08975	N	2.325	0.66631	M	3.23	0.06931	T	-2.04	0.51157	N	0.354	0.39558	-0.8799	0.49770	T	0.036	0.15683	T	10	0.0048911273	0.00104	T	.	.	.	0.228	0.52768	.	.	0.235664433957	0.23186	0.12604868837369124	0.12530	0.18284391176	0.20557	0.213060647249	0.00948	T	0.019472	0.15507	T	-0.502251	0.00555	T	-0.48483	0.23935	T	0.0580150899496101	0.06852	T	0.306769	0.05902	T	0.04376589	0.06878	0.0493814	0.07536	0.04376589	0.06878	0.0493814	0.07535	-7.497	0.57589	T	.	.	0.186	0.40197	B	.;.	.;.	0.625634	0.09942	6.698	0.98408434888710794	0.41148	0.04019	0.09450	N	AEFBCI	0.032231	0.03598	N	-0.660365436877656	0.17158	0.8805847	-0.928975025558241	0.11412	0.5812225	0.999765059627799	0.42728	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.6	-2.11	0.06787	-1.854000	0.01757	-15.955000	0.00333	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3607:0.1582:0.3251:0.1561	1.041	0.01461	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.05263	8304.83	202	chr10	128104971	.	A	G	8304.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.062;DP=3921;ExcessHet=0.119;FS=0.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.99;MQRankSum=0;QD=12.55;ReadPosRankSum=0.479;SOR=0.651	GT:AD:DP:GQ:PL	0/1:137,152:289:99:3740,0,3672	17	0	2	0
chr10	128107642	128107642	C	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G3118T:p.V1040L,MKI67:NM_002417:exon13:c.G4198T:p.V1400L	.	422	1096	1	1	2	5	0.00136674	.	.	.	712244	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.069	0.00333708361359	0.0031	0.00159744	0.0026	0.0004	0.0021	0	0.0020	0.0040	0.0044	0	0.0027102	419	154602	rs138888836	0.0049	0.0049	0.0051	0.0048	0.0060	0.0048	0.0048	0.0059	0.0058	0.0007	0.0025	7.652e-05	0	0.0019	0.0009	0.0060	0.0055	8.115e-05	0.0032	0.0032	0.0034	0.0030	0.0055	0.0030	0.0029	0.0050	0.0049	0.0009	0	0.0034	0	0	0.0014	0.0034	0.0055	0.0052	0	0.325	0.14843	T	0.267	0.22561	T	0.695	0.55692	P	0.205	0.56122	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	3.68	0.04151	T	-0.78	0.21644	N	0.143	0.14338	-0.9718	0.36819	T	0.012	0.04747	T	9	0.004554361	0.00094	T	0.003337	0.07451	T	0.069	0.20116	0.55	0.66576	0.42069145522	0.41685	0.06207278636198271	0.06147	0.0842696433449	0.09510	0.229588523507	0.01938	T	0.007845	0.07229	T	-0.679957	0.00048	T	-0.745063	0.03682	T	0.00516271574392646	0.00056	T	0.419858	0.11135	T	0.02984551	0.02548	0.03206927	0.01886	0.02984551	0.02548	0.03206927	0.01886	-5.209	0.39033	T	.	.	0.165	0.36416	B	.;.	.;.	-1.430561	0.00339	0.006	0.64616851382568774	0.07543	0.08585	0.14494	N	AEFDBCI	0.045931	0.07569	N	-1.09366305270272	0.06759	0.3120772	-1.24686693374706	0.05177	0.2460749	0.642156998097904	0.22063	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.63	-0.57	0.11164	-4.251000	0.00303	-20.000000	0.00162	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3243:0.3546:0.3212	4.301	0.10369	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3427.33	163	chr10	128107642	.	C	A	3427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=2986;ExcessHet=0;FS=0.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.403;SOR=0.63	GT:AD:DP:GQ:PL	0/1:114,126:240:99:3441,0,2754	18	0	1	0
chr10	131955803	131955803	G	A	exonic	PPP2R2D	.	nonsynonymous SNV	PPP2R2D:NM_018461:exon9:c.G1202A:p.R401Q,PPP2R2D:NM_001291310:exon10:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	.	.	4.195e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782682369	1.928e-05	2.052e-05	8.214e-06	3.046e-05	0.0003	1.337e-05	1.151e-05	0.0002	0.0002	0	0	3.857e-05	2.564e-05	0	0	1.807e-06	1.669e-05	0.0003	1.315e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.133	0.34359	T	0.854	0.47077	P	0.345	0.42592	B	0.000025	0.55875	D	0.073525	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.494	0.52740	-1.0661	0.10293	T	0.070	0.28740	T	9	0.27583188	0.45143	T	.	.	.	0.241	0.54641	0.388	0.40951	0.546000776237	0.54254	0.5570125922063712	0.55628	.	.	0.658043861389	0.61129	T	0.037501	0.24497	T	0.00891014	0.52877	T	0.0767437	0.75359	D	0.48589164018631	0.32113	T	0.945205	0.79148	D	0.061177872	0.12640	0.09740025	0.23182	0.061177872	0.12639	0.09740025	0.23181	-9.757	0.72444	D	.	.	0.435	0.61444	A	.	.	4.164573	0.62574	24.5	0.97178902332252481	0.32713	0.88981	0.49180	D	AEFDBCI	0.749999	0.69125	D	-0.176330680006787	0.34121	1.943851	-0.267037642441756	0.29190	1.633496	0.823757229002786	0.24570	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.9	3.0	0.33773	7.061000	0.76398	5.187000	0.47885	-0.108000	0.15293	1.000000	0.71638	0.999000	0.35428	0.046000	0.14843	0.0862:0.0:0.9138:0.0	11.743	0.51070	935	0.14827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1677.33	42	chr10	131955803	.	G	A	1677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.802;SOR=0.725	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1691,0,1797	18	0	1	0
chr10	132225304	132225304	C	T	exonic	STK32C	.	nonsynonymous SNV	STK32C:NM_001318878:exon7:c.G844A:p.G282R,STK32C:NM_001318879:exon7:c.G454A:p.G152R,STK32C:NM_173575:exon7:c.G805A:p.G269R	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0603405634242	.	.	2.982e-05	0	0	0	0	5.392e-05	0	0	2.59e-05	4	154602	rs773677227	4.795e-06	4.788e-06	4.089e-06	5.509e-06	1.162e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	1.658e-05	1.162e-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	0.521	0.20912	T	0.565	0.09795	T	1.0	0.90584	D	1.0	0.97372	D	0.000007	0.62929	D	0.000000	0.98031	0.39654	D	1.6	0.40776	L	-0.18	0.65747	T	-2.39	0.52612	N	0.387	0.44761	-0.4155	0.71535	T	0.353	0.71627	T	10	0.22359312	0.39141	T	0.060341	0.67969	D	0.283	0.60100	.	.	0.700740475711	0.69814	0.7958688989807313	0.79539	0.885177762926	0.69955	0.737490296364	0.72604	T	0.021481	0.16719	T	-0.0866186	0.38633	T	-0.254541	0.49367	T	0.675402045249939	0.39579	D	0.931207	0.74412	D	0.25202468	0.48215	0.17576051	0.40064	0.25202468	0.48215	0.17576051	0.40064	-13.168	0.90043	D	.	.	0.294	0.60810	B	.;.	.;.	4.147294	0.62187	24.4	0.76763468911026533	0.11599	0.76204	0.37357	D	AEFBI	0.350368	0.44384	N	0.0537106507432211	0.44314	2.707668	-0.0264795390073932	0.38523	2.270827	0.999999698300354	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.49	4.49	0.54177	2.321000	0.43465	7.357000	0.58325	0.549000	0.26987	0.131000	0.23362	1.000000	0.68203	0.173000	0.21076	0.0:0.8377:0.1623:0.0	13.024	0.58212	992	0.01359	.;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	.	.	.	.	.	.	.	.	0.02632	1786.33	66	chr10	132225304	.	C	T	1786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=1269;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.232;SOR=0.676	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1800,0,1678	18	0	1	0
chr10	133532153	133532153	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon4:c.G517A:p.G173S	.	423	1054	41	4	0	49	0.0227167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0016	0.00219649	0.0035	0.0004	0.0013	0.0002	0.0005	0.0023	0.0044	0.0149	0.0031759	491	154602	rs60452492	0.0025	0.0025	0.0021	0.0029	0.0154	0.0024	0.0024	0.0147	0.0144	0.0002	0.0011	0.0080	0.0002	0.0005	0.0090	0.0016	0.0031	0.0154	0.0016	0.0016	0.0014	0.0018	0.0146	0.0015	0.0014	0.0118	0.0108	0.0005	0	0.0018	0.0075	0	0.0004	0.0034	0.0014	0.0019	0.0146	0.755	0.06145	T	0.773	0.06643	T	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.166180	0.791814	0.81001	D	1.07	0.27075	L	-0.22	0.66474	T	-2.8	0.65397	D	0.061	0.03283	-0.7936	0.55520	T	0.201	0.55737	T	10	0.007817626	0.00177	T	.	.	.	0.280	0.59740	.	.	0.709176414936	0.70664	0.5636643323569762	0.56293	1.0264605321	0.75294	0.411144316196	0.26615	T	0.390271	0.75049	T	-0.423312	0.01630	T	-0.369159	0.36987	T	0.0578869794120568	0.06831	T	0.872413	0.59112	D	0.50080454	0.67142	0.23776327	0.49082	0.50080454	0.67143	0.23776327	0.49081	-5.062	0.37505	T	.	.	0.188	0.44986	B	.;.;.;.	.;.;.;.	2.884045	0.38170	20.7	0.99060141632020249	0.51459	0.68786	0.33935	D	AEFDBI	0.825157	0.74490	D	0.0103509905861311	0.42325	2.548068	-0.0130856296977882	0.39122	2.314954	0.999433092208	0.39683	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.59	4.59	0.56297	3.226000	0.50956	3.498000	0.38759	0.674000	0.70861	0.583000	0.27610	1.000000	0.68203	0.004000	0.06068	0.0982:0.0:0.9018:0.0	8.844	0.34318	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	0.008560	0.000000	0.002717	0.000000	0.000000	0.017241	0.009146	0.030303	0.02632	1297.33	33	chr10	133532153	.	G	A	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.138;DP=767;ExcessHet=0;FS=2.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.397;SOR=0.405	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1311,0,928	18	0	1	0
chr11	281289	281289	C	A	exonic	NLRP6	.	nonsynonymous SNV	NLRP6:NM_001276700:exon4:c.C1555A:p.P519T,NLRP6:NM_138329:exon4:c.C1555A:p.P519T	.	.	.	.	.	.	.	.	.	.	.	712776	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0102	0.0091853	0.0026	0.0287	0.0013	0	0	0.0002	0	0	0.0025226	390	154602	rs78244878	0.0010	0.0010	0.0012	0.0008	0.0337	0.0010	0.0009	0.0320	0.0314	0.0337	0.0016	3.85e-05	0	0	0.0017	8.743e-05	0.0024	5.81e-05	0.0087	0.0088	0.0090	0.0085	0.0303	0.0084	0.0082	0.0289	0.0284	0.0303	0	0.0029	0	0	0	0.0034	0.0001	0.0076	0	0.538	0.06847	T	0.129	0.34837	T	0.952	0.54136	P	0.521	0.48239	P	0.037696	0.24371	N	0.207171	1	0.08975	N	.	.	.	-0.89	0.74793	T	-1.24	0.31375	N	0.092	0.07125	-0.9139	0.46364	T	0.087	0.33690	T	10	0.0034913123	0.00062	T	.	.	.	0.111	0.31313	.	.	0.0401082797425	0.02173	0.44754285222305673	0.44672	.	.	0.43753772974	0.30241	T	0.035732	0.23831	T	-0.492059	0.00633	T	-0.455211	0.27122	T	0.00165611188724756	0.00017	T	0.526147	0.17328	T	0.045213822	0.07362	0.057288848	0.10388	0.045213822	0.07362	0.057288848	0.10387	-4.715	0.33585	T	.	.	0.085	0.10062	B	.;.	.;.	0.377701	0.07500	4.140	0.58157116381702623	0.05929	0.12946	0.17574	N	AEFDGBCIJ	0.079839	0.16132	N	-0.788129574521012	0.13619	0.672212	-0.925649077436142	0.11489	0.5856338	0.999991451941232	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.576033	0.28219	0	0.620976	0.48614	0	.	.	3.26	1.35	0.21078	-0.590000	0.05854	-0.108000	0.11862	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8013:0.0:0.1987	7.833	0.28515	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1344.33	37	chr11	281289	.	C	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.184;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.007;SOR=0.644	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1358,0,2358	18	0	1	0
chr11	392709	392709	G	A	splicing	PKP3	NM_001303029:exon1:c.81+1G>A	.	.	.	.	.	.	.	.	.	.	0.0038	0.034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395431487	3.529e-06	3.42e-06	1.732e-06	5.395e-06	4.351e-06	8.3e-07	5.6e-07	1.02e-06	6.9e-07	0	0	0	0	0	0	4.351e-06	0	0	1.316e-05	1.314e-05	2.572e-05	0	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.044054	0.25985	16.96	0.97101987782689225	0.32370	0.40931	0.26545	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999959723987921	0.48110	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.126563	0.25334	3.11	3.11	0.34883	0.601000	0.23818	10.753000	0.83682	0.558000	0.28311	0.034000	0.20669	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	11.383	0.49013	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	509.33	33	chr11	392709	.	G	A	509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=620;ExcessHet=0;FS=1.414;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.127;SOR=0.368	GT:AD:DP:GQ:PL	0/1:15,18:33:99:523,0,359	18	0	1	0
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	770.04	569	chr11	1017465	.	C	*	770.04	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.694;DP=12563;ExcessHet=2.0135;FS=1.992;InbreedingCoeff=-0.2282;MLEAC=3;MLEAF=0.088;MQ=55.61;MQRankSum=-9.847;QD=0.19;ReadPosRankSum=-1.563;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:506,65:585:99:.:.:1167,0,21171:.	14	0	3	2
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1308.94	585	chr11	1017467	.	G	*	1308.94	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.71;DP=12628;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2754;MLEAC=2;MLEAF=0.063;MQ=55.3;MQRankSum=-4.128;QD=0.31;ReadPosRankSum=-1.766;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:492,91:583:99:.:.:1307,0,20106:.	14	0	2	3
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	13719.0	569	chr11	1017471	.	C	*	13719.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.309;DP=12666;ExcessHet=8.9063;FS=0.799;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=55.33;MQRankSum=-10.02;QD=1.77;ReadPosRankSum=2.61;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:477,81:597:99:.:.:1344,0,19353:.	14	0	3	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	383.39	586	chr11	1017475	.	T	*	383.39	.	AC=3;AF=0.088;AN=34;BaseQRankSum=6.05;DP=12510;ExcessHet=0.7564;FS=1.906;InbreedingCoeff=-0.1522;MLEAC=3;MLEAF=0.088;MQ=56.56;MQRankSum=-5.845;QD=0.16;ReadPosRankSum=-1.538;SOR=0.961	GT:AD:DP:GQ:PL	0/1:476,81:590:99:1275,0,20245	14	0	3	2
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	15417.4	583	chr11	1017485	.	G	*	15417.4	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.65;DP=12722;ExcessHet=17.0548;FS=1.554;InbreedingCoeff=-0.6889;MLEAC=1;MLEAF=0.031;MQ=55.42;MQRankSum=-11.58;QD=1.65;ReadPosRankSum=8.19;SOR=0.891	GT:AD:DP:GQ:PL	0/1:444,81:603:99:1458,0,18423	15	0	1	3
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,165:630:99:0|1:1017461_G_T:5060,0,16105:1017461	9	0	9	1
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1913.95	552	chr11	1017504	.	G	*	1913.95	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.26;DP=12586;ExcessHet=4.0268;FS=1.712;InbreedingCoeff=-0.275;MLEAC=2;MLEAF=0.056;MQ=55.78;MQRankSum=-7.178;QD=0.4;ReadPosRankSum=-1.817;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:508,81:656:18:0|1:1017461_G_T:1241,0,21131:1017461	16	0	2	1
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	1221.11	167	chr11	1018228	.	G	*	1221.11	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=4229;ExcessHet=6.9875;FS=13.674;InbreedingCoeff=-0.4381;MLEAC=6;MLEAF=0.188;MQ=57.03;MQRankSum=-9.096;QD=0.53;ReadPosRankSum=-1.93;SOR=2.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,16:213:99:.:.:100,0,7930:.	11	0	5	3
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:220,25:262:99:.:.:388,0,9163:.	5	0	14	0
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	141.33	47	chr11	1097057	.	A	G	141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.819;DP=1432;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.55;MQRankSum=0.05;QD=4.87;ReadPosRankSum=-0.661;SOR=0.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,9:29:99:1|0:1097050_A_G:155,0,557:1097050	18	0	1	0
chr11	1097436	1097436	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	1	223	2	0	0	2	0.00446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0482318403546	.	.	0.0005	0.0007	0	0	0	0.0003	0	0.0008	5.82e-05	9	154602	rs1255753096	0.0015	0.0019	0.0015	0.0015	0.0015	0.0014	0.0013	0.0014	0.0013	0.0009	0.0009	0.0006	0.0010	0.0053	0.0005	0.0015	0.0015	0.0006	0.0004	0.0009	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0	0.0003	0	0	0.0005	0	0.0004	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	0.151303	0.221053	0.051095	0.078947	0.285714	0.060000	0.204762	0.156250	0.1429	584.88	143	chr11	1097436	.	C	G	584.88	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.74;DP=2821;ExcessHet=0.119;FS=1.407;InbreedingCoeff=-0.2667;MLEAC=4;MLEAF=0.286;MQ=35.95;MQRankSum=0.057;QD=3.18;ReadPosRankSum=-2.069;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,24:76:99:0|1:1097377_T_C:545,0,1571:1097377	5	0	2	12
chr11	1097518	1097586	GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	-	exonic	MUC2	.	unknown	UNKNOWN	.	622	891	5	3	1	12	0.00613497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0045	0.0018	0.0030	0.0024	0.0023	0.0023	0.0023	0.0023	0.0024	0.0021	0.0018	0.0008	0.0052	0.0019	0.0024	0.0033	0.0019	4.707e-05	0.0008	1.834e-05	7.737e-05	8.495e-05	1.776e-05	1.199e-05	2.881e-05	1.734e-05	0	0	0	0	0	0.0002	0	8.495e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	312.29	150	chr11	1097517	.	CGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT	C	312.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.484;DP=3107;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.69;MQRankSum=-1.306;QD=4.22;ReadPosRankSum=1.34;SOR=0.513	GT:AD:DP:GQ:PL	0/1:63,11:74:99:326,0,168	18	0	1	0
chr11	1097520	1097520	T	0	exonic	MUC2	.	.	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	251.63	150	chr11	1097520	.	T	*	251.63	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.382;DP=3161;ExcessHet=0.119;FS=5.251;InbreedingCoeff=-0.1021;MLEAC=1;MLEAF=0.031;MQ=35.8;MQRankSum=-1.296;QD=1.52;ReadPosRankSum=1.74;SOR=1.22	GT:AD:DP:GQ:PL	0/1:63,11:74:99:326,0,168	15	0	1	3
chr11	1097542	1097542	C	0	exonic	MUC2	.	.	.	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	7507.2	150	chr11	1097542	.	C	*	7507.2	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.076;DP=2579;ExcessHet=0.7564;FS=13.386;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.028;MQ=52.08;MQRankSum=4.61;QD=15.38;ReadPosRankSum=1.06;SOR=0.257	GT:AD:DP:GQ:PL	0/1:63,11:74:99:326,0,168	17	0	1	1
chr11	1097560	1097560	A	0	exonic	MUC2	.	.	.	.	36	182	1	1	6	9	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	119.66	150	chr11	1097560	.	A	*	119.66	.	AC=2;AF=0.083;AN=24;BaseQRankSum=1.07;DP=2473;ExcessHet=0;FS=0;InbreedingCoeff=0.1632;MLEAC=3;MLEAF=0.125;MQ=32.05;MQRankSum=0.01;QD=5.44;ReadPosRankSum=-1.465;SOR=1.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,11:32:29:1|1:1097558_ACAACGACACC_A:797,29,0:1097558	11	1	0	7
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	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	.	.	.	.	.	.	.	.	0.2308	583.2	75	chr11	1097836	.	A	C	583.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.723;DP=1901;ExcessHet=2.0135;FS=28.862;InbreedingCoeff=-0.31;MLEAC=8;MLEAF=0.308;MQ=35.49;MQRankSum=-1.272;QD=1.2;ReadPosRankSum=-1.828;SOR=2.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,8:60:53:.:.:53,0,1582:.	7	0	6	6
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.2	243	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	10864.2	.	AC=6;AF=0.25;AN=24;BaseQRankSum=0.547;DP=5993;ExcessHet=10.1553;FS=0;InbreedingCoeff=-0.334;MLEAC=8;MLEAF=0.333;MQ=52.45;MQRankSum=-1.475;QD=4.61;ReadPosRankSum=-0.914;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,38:107:99:0|1:1099366_T_*:6356,2816,2402:1099366	6	0	6	7
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,38:108:99:0|1:1099366_T_*:6213,2828,2442:1099366	10	0	9	0
chr11	1252900	1252900	A	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon33:c.A15137G:p.N5046S	.	420	1098	4	0	0	4	0.00181818	.	.	.	3318603	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.015	0.0199035837206	0.0002	.	0.0003	0	0.0005	0	0	0.0004	0.0012	0	0.0002329	36	154602	rs369321121	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0004	0.0003	0	0.0005	0.0002	0	0	0.0009	0.0002	0.0004	2.319e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0032	0.0003	0	0	0.544	0.06713	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.515	0.13537	N	2.37	0.15964	T	-1.76	0.41618	N	0.114	0.10198	-0.9838	0.34116	T	0.018	0.07423	T	9	0.036046118	0.01882	T	0.019904	0.42377	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.7509940139241132	0.75046	.	.	0.225491195917	0.01651	T	0.020202	0.15948	T	-0.653209	0.00069	T	-0.835517	0.01168	T	0.0177352958022806	0.00503	T	0.554445	0.19192	T	0.022191305	0.00866	0.03278602	0.02069	0.022191305	0.00866	0.03278602	0.02068	-5.912	0.45537	T	.	.	0.081	0.08368	B	.	.	-0.062111	0.03872	0.842	0.64452289976835919	0.07497	0.05058	0.10848	N	AEFBHCI	0.073781	0.14769	N	-1.09825734909336	0.06675	0.3079681	-1.11985978400734	0.07320	0.3556628	3.91500876907365E-4	0.06820	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.86	-0.701	0.10702	-0.501000	0.06479	0.139000	0.15146	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.4483:0.1713:0.2547:0.1257	1.308	0.01966	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	36	chr11	1252900	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.197;DP=741;ExcessHet=0;FS=3.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.227;SOR=0.958	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1246,0,1463	18	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,76:144:99:.:.:5430,2360,2806:.	8	2	9	0
chr11	3218472	3218472	-	T	exonic	MRGPRG	.	frameshift insertion	MRGPRG:NM_001164377:exon1:c.341dupA:p.C116Lfs*175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1037.29	42	chr11	3218472	.	C	CT	1037.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.609;DP=735;ExcessHet=0;FS=5.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.242;SOR=0.28	GT:AD:DP:GQ:PL	0/1:30,34:64:99:1051,0,917	18	0	1	0
chr11	3679579	3679579	A	G	exonic	NUP98	.	nonsynonymous SNV	NUP98:NM_001365129:exon30:c.T4907C:p.I1636T,NUP98:NM_139132:exon30:c.T4826C:p.I1609T,NUP98:NM_001365126:exon31:c.T5099C:p.I1700T,NUP98:NM_001365127:exon31:c.T5024C:p.I1675T,NUP98:NM_001365128:exon31:c.T4997C:p.I1666T,NUP98:NM_016320:exon31:c.T5048C:p.I1683T,NUP98:NM_001365125:exon32:c.T5141C:p.I1714T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.014945446126	0.0007	.	0.0003	0	0	0	0	0.0004	0	0.0002	0.0002458	38	154602	rs138664271	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0002	0	2.519e-05	0	0.0003	0.0002	0.0003	8.116e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	2.413e-05	0	6.551e-05	0	0	0	0	0.0004	0.0005	0	0.028	0.46129	D	0.063	0.47581	T	0.694	0.41705	P	0.514	0.48013	P	0.001096	0.40303	N	0.246458	0.830831	0.34915	D	1.845	0.48678	L	.	.	.	0.15	0.10480	N	0.42	0.53445	-0.9971	0.30728	T	0.116	0.40986	T	9	0.12792426	0.24330	T	0.014945	0.35393	T	0.165	0.42395	.	.	0.196089822672	0.19227	0.24632864909759927	0.24546	0.337728775894	0.35759	0.535238981247	0.43773	T	0.060397	0.31377	T	-0.225611	0.17233	T	-0.245695	0.50242	T	0.0875986191225355	0.10931	T	0.89611	0.63771	D	0.07091273	0.15659	0.12552759	0.30244	0.07091273	0.15658	0.12552759	0.30243	-1.008	0.03114	T	.	.	0.078	0.39815	B	.;.;.	.;.;.	3.154685	0.42722	21.6	0.94797503179658626	0.25544	0.98481	0.83233	D	AEFBI	0.365619	0.45372	N	-0.0103068491977112	0.41388	2.47469	0.0899817858806488	0.44043	2.693761	0.988956480529421	0.31679	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	5.078000	0.64255	9.314000	0.79985	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.8673:0.0:0.0:0.1327	11.650	0.50542	654	0.62520	.;.;.	.	.	.	.	.	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1563.33	33	chr11	3679579	.	A	G	1563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.274;DP=720;ExcessHet=0;FS=3.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.17;SOR=0.388	GT:AD:DP:GQ:PL	0/1:43,62:105:99:1577,0,1079	18	0	1	0
chr11	4091634	4091634	G	A	exonic	STIM1	.	nonsynonymous SNV	STIM1:NM_001382570:exon10:c.G1666A:p.D556N,STIM1:NM_001382571:exon10:c.G1414A:p.D472N,STIM1:NM_001382569:exon11:c.G1759A:p.D587N,STIM1:NM_001382581:exon11:c.G1405A:p.D469N,STIM1:NM_001277961:exon12:c.G2212A:p.D738N,STIM1:NM_001382566:exon12:c.G1990A:p.D664N,STIM1:NM_001382568:exon12:c.G1915A:p.D639N,STIM1:NM_001382575:exon12:c.G1672A:p.D558N,STIM1:NM_001382576:exon12:c.G1672A:p.D558N,STIM1:NM_001382577:exon12:c.G1672A:p.D558N,STIM1:NM_003156:exon12:c.G1894A:p.D632N,STIM1:NM_001382567:exon13:c.G1987A:p.D663N	Immunodeficiency 10, Autosomal recessive;Myopathy, tubular aggregate, 1, Autosomal dominant;Stormorken syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	640049	Combined_immunodeficiency_due_to_STIM1_deficiency|Stormorken_syndrome|Myopathy_with_tubular_aggregates|not_provided	MONDO:MONDO:0013008,MedGen:C2748557,OMIM:612783,Orphanet:169090,Orphanet:317430|MONDO:MONDO:0008497,MedGen:C1861451,OMIM:185070,Orphanet:3204|MONDO:MONDO:0008051,MedGen:C0410207,OMIM:PS160565,Orphanet:2593|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0231655710562	7.7e-05	.	6.59e-05	0	0	0	0	8.991e-05	0	0.0001	5.17e-05	8	154602	rs369549218	5.404e-05	5.404e-05	4.628e-05	6.188e-05	6.295e-05	4.41e-05	4.082e-05	5.073e-05	4.653e-05	0	0	0	2.519e-05	0	0	6.295e-05	6.623e-05	4.637e-05	7.885e-05	7.88e-05	0.0001	5.38e-05	0.0002	4.497e-05	3.512e-05	9.048e-05	7.012e-05	0	0	0	0	0.0002	0	0	0.0002	0	0	0.073	0.36709	T	0.363	0.37173	T	0.421	0.35387	B	0.026	0.20792	B	0.014477	0.28523	N	0.412228	0.831353	0.81001	D	1.245	0.31408	L	-0.07	0.63738	T	-0.75	0.24676	N	0.182	0.23632	-0.8974	0.48254	T	0.113	0.40284	T	10	0.15165588	0.28662	T	0.023166	0.46115	T	0.089	0.25827	.	.	0.769001717025	0.76688	0.20669362888323548	0.20585	0.415967373236	0.42239	0.527182936668	0.42639	T	0.266526	0.63848	T	-0.227142	0.17028	T	-0.378147	0.35940	T	0.156413406133652	0.17603	T	0.869413	0.58193	D	0.12906408	0.30156	0.07077818	0.15078	0.12906408	0.30156	0.07077818	0.15077	-3.789	0.20640	T	0.11140760537921174	0.09523	0.096	0.27039	B	.;.;.	.;.;.	4.076880	0.60617	24.2	0.99886141502952819	0.96126	0.96544	0.69671	D	AEFDBHCI	0.906601	0.85958	D	0.0476310778044958	0.44034	2.684865	0.212668020180628	0.50550	3.24585	0.999999996925269	0.74766	0.758104	0.99027	0	0.698795	0.70079	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	4.914000	0.63046	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1868:0.8132:0.0	11.137	0.47607	604	0.67577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1460.33	34	chr11	4091634	.	G	A	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.076;DP=744;ExcessHet=0;FS=2.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.633;SOR=0.467	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1474,0,1793	18	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,42:166:99:.:.:254,0,3577:.	5	0	9	5
chr11	5857398	5857398	C	T	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.G305A:p.G102D	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	0.0003	0.00399361	0.0020	0	0.0003	0.0190	0.0015	0.0008	0.0044	0.0002	0.0018176	281	154602	rs143263598	0.0008	0.0008	0.0008	0.0008	0.0170	0.0008	0.0008	0.0160	0.0155	0	0.0004	0.0017	0.0170	0.0012	0.0007	0.0002	0.0013	0.0004	0.0011	0.0012	0.0011	0.0012	0.0192	0.0010	0.0009	0.0161	0.0150	0	0	0.0014	0.0020	0.0192	0.0011	0	0.0003	0.0014	0.0010	0.083	0.33091	T	0.044	0.49663	D	0.003	0.11197	B	0.005	0.11217	B	0.049972	0.23113	N	0.362111	0.999923	0.19486	N	1.935	0.51832	L	2.95	0.09635	T	-3.15	0.64132	D	0.336	0.37717	-1.0395	0.17465	T	0.015	0.05801	T	10	0.00841409	0.00191	T	.	.	.	0.125	0.34456	.	.	0.199424873507	0.19547	0.3340731362564264	0.33320	0.00247354185408	0.00212	0.190995126963	0.00243	T	0.008678	0.07952	T	-0.520509	0.00437	T	-0.504856	0.21846	T	0.0189130066481676	0.00601	T	0.633137	0.24745	T	0.16535392	0.36802	0.26504424	0.52332	0.16535392	0.36801	0.26504424	0.52331	-6.498	0.50271	T	.	.	0.130	0.27998	B	.	.	1.155056	0.15434	11.85	0.90702436527859531	0.19953	0.08177	0.14139	N	AEFI	0.095608	0.19314	N	-0.494573544296595	0.22259	1.187226	-0.482032122130509	0.22648	1.231221	5.60521394835325E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	3.29	0.36801	-0.445000	0.06918	.	.	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5416:0.3598:0.0985	6.496	0.21337	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1969.33	34	chr11	5857398	.	C	T	1969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.373;DP=837;ExcessHet=0;FS=4.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.516;SOR=0.746	GT:AD:DP:GQ:PL	0/1:92,70:162:99:1983,0,2715	18	0	1	0
chr11	6390701	6390718	CTGGTGCTGGCGCTGGCG	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.103_120del:p.V36_L41del,SMPD1:NM_001007593:exon1:c.103_120del:p.V36_L41del,SMPD1:NM_001318087:exon1:c.103_120del:p.V36_L41del,SMPD1:NM_001365135:exon1:c.103_120del:p.V36_L41del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	13	1261	202	16	30	264	0.0849057	.	.	.	190279	SMPD1-related_disorder|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A|not_specified	.|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0001	0.0002	0.0004	0.0091	0.0018	0.0013	0.0003	0.0001537	4	26028	rs1488570078	0.0010	0.0010	0.0010	0.0011	0.0014	0.0010	0.0010	0.0008	0.0008	0.0003	0.0006	0.0004	0.0006	0.0075	0.0014	0.0009	0.0006	0.0004	0.0018	0.0017	0.0017	0.0019	0.0021	0.0016	0.0015	0.0018	0.0017	0.0002	0.0271	0.0007	0	0.0006	0.0079	0	0.0021	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4549.45	39	chr11	6390700	.	CCTGGTGCTGGCGCTGGCG	C	4549.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.621;DP=966;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.104;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,43:91:99:0|1:6390700_CCTGGTGCTGGCGCTGGCG_C:1647,0,1842:6390700	18	0	1	0
chr11	6390705	6390717	TGCTGGCGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	48070.0	78	chr11	6390705	.	TGCTGGCGCTGGC	*	48070.0	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.83;DP=1831;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=-0.4;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,43:83:99:1|0:6390700_CCTGGTGCTGGCGCTGGCG_C:3186,1196,1639:6390700	16	0	3	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	563.21	93	chr11	6564079	.	G	C	563.21	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-2.147;DP=1498;ExcessHet=2.0135;FS=208.676;InbreedingCoeff=-0.265;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.38;SOR=11.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,13:56:14:0|1:6564079_G_C:14,0,1173:6564079	9	0	6	4
chr11	18718721	18718721	C	T	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon8:c.G704A:p.R235Q	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0077	0.00299521	0.0057	0.0016	0.0038	0.0001	0.0020	0.0088	0.0091	0.0013	0.0056597	875	154602	rs74743312	0.0071	0.0072	0.0073	0.0069	0.0079	0.0070	0.0069	0.0078	0.0077	0.0013	0.0043	0.0258	5.053e-05	0.0016	0.0045	0.0079	0.0076	0.0014	0.0061	0.0061	0.0066	0.0057	0.0079	0.0058	0.0057	0.0074	0.0072	0.0017	0.1557	0.0048	0.0184	0.0002	0.0011	0.0068	0.0079	0.0080	0.0023	0.162	0.23541	T	0.185	0.28958	T	.	.	.	.	.	.	0.073144	0.21364	N	0.237042	1	0.08975	N	.	.	.	0.73	0.50721	T	-1.61	0.38734	N	0.115	0.10340	-1.0561	0.12750	T	0.059	0.24871	T	10	0.002345264	0.00035	T	.	.	.	0.091	0.26358	.	.	0.412715890961	0.40891	0.1259008563187276	0.12516	0.260319576292	0.28604	0.223542779684	0.01524	T	.	.	.	-0.538032	0.00344	T	-0.539649	0.18331	T	0.0124066226192968	0.00203	T	0.714029	0.32612	T	.	.	.	.	.	.	.	.	-4.765	0.34180	T	.	.	0.162	0.35767	B	.	.	2.004369	0.25467	16.77	0.99503519358242176	0.68206	0.02973	0.07818	N	AEFBI	0.077642	0.15648	N	-0.260157747911556	0.30700	1.71426	-0.277269570089191	0.28848	1.611686	4.71335904190054E-5	0.03989	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.09	3.21	0.35933	-0.023000	0.12403	0.128000	0.15008	0.549000	0.26987	0.195000	0.24249	0.513000	0.25267	0.996000	0.76049	0.0:0.7168:0.0:0.2832	7.069	0.24348	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.025253	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	2005.83	35	chr11	18718721	.	C	T	2005.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.19;DP=723;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=0.932;SOR=0.765	GT:AD:DP:GQ:PL	0/1:24,34:58:99:940,0,479	17	0	2	0
chr11	19225463	19225463	G	C	exonic	E2F8	.	nonsynonymous SNV	E2F8:NM_001256371:exon12:c.C2179G:p.Q727E,E2F8:NM_001256372:exon12:c.C2179G:p.Q727E,E2F8:NM_024680:exon12:c.C2179G:p.Q727E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00682669135762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.22920	T	0.507	0.10930	T	0.85	0.46913	P	0.37	0.43538	B	0.002551	0.36353	N	0.302380	0.648298	0.81001	D	1.995	0.54099	M	2.14	0.19450	T	-0.43	0.14390	N	0.442	0.48042	-0.9356	0.43303	T	0.061	0.25383	T	10	0.16369957	0.30645	T	0.006827	0.18065	T	0.097	0.27909	0.113	0.02240	0.171220215726	0.16700	0.492715480815806	0.49192	0.214305633905	0.23962	0.404561787844	0.25703	T	0.170917	0.51884	T	-0.122845	0.32661	T	-0.414235	0.31738	T	0.410042554140091	0.29319	T	0.763224	0.38939	T	0.055926528	0.10935	0.048248716	0.07126	0.055926528	0.10935	0.048248716	0.07126	-6.214	0.48036	T	.	.	0.086	0.10883	B	.;.;.	.;.;.	2.406737	0.30930	18.59	0.97522032654932145	0.34411	0.97922	0.78147	D	AEFDBI	0.665499	0.63429	D	0.153040239706733	0.48955	3.101548	0.195100717446692	0.49578	3.159294	0.999929520855767	0.46280	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.98	5.08	0.68373	3.460000	0.52793	9.948000	0.82707	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1416:0.0:0.8584:0.0	11.194	0.47928	840	0.37365	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4846.83	39	chr11	19225463	.	G	C	4846.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.508;DP=945;ExcessHet=0.119;FS=3.601;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.868;SOR=0.885	GT:AD:DP:GQ:PL	0/1:71,91:162:99:2294,0,1932	17	0	2	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1687.47	64	chr11	33085953	.	G	A	1687.47	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-1.54;DP=1238;ExcessHet=2.1469;FS=207.137;InbreedingCoeff=-0.4074;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.53;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,14:62:99:0|1:33085952_T_C:146,0,1481:33085952	4	0	5	10
chr11	34140495	34140495	A	G	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon22:c.A2299G:p.M767V,NAT10:NM_024662:exon24:c.A2515G:p.M839V	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0148029985972	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149351119	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.378	0.16086	T	0.002	0.09854	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.145	0.29067	L	1.7	0.26885	T	-0.78	0.21644	N	0.944	0.95725	-1.0811	0.07137	T	0.035	0.15247	T	10	0.652272	0.69672	D	0.014803	0.35150	T	0.332	0.65424	.	.	0.380901646489	0.37697	0.5774435743568245	0.57673	0.203479476515	0.22768	0.687375426292	0.65328	T	0.027425	0.20088	T	0.18663	0.72653	D	0.0303043	0.72297	D	0.406136570740375	0.29173	T	0.974353	0.90870	D	0.1526889	0.34649	0.13108839	0.31485	0.1526889	0.34648	0.13108839	0.31484	-3.867	0.30980	T	.	.	0.118	0.35870	B	.;.;.	.;.;.	2.695994	0.35200	19.84	0.89932111718360519	0.19230	0.99024	0.90115	D	AEFDGBI	0.924383	0.90233	D	-0.279753255337008	0.29931	1.664272	-0.0926982651257959	0.35691	2.067896	0.999962080081316	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	4.0	0.45673	9.246000	0.94587	9.286000	0.79753	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.8586:0.1414:0.0:0.0	12.342	0.54423	338	0.86082	Possible tRNA binding domain;.;Possible tRNA binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1203.33	33	chr11	34140495	.	A	G	1203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.25;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-1.893;SOR=0.729	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1217,0,1664	18	0	1	0
chr11	35434537	35434537	T	A	exonic	PAMR1	.	nonsynonymous SNV	PAMR1:NM_001282676:exon8:c.A1268T:p.D423V,PAMR1:NM_001001991:exon10:c.A1601T:p.D534V,PAMR1:NM_015430:exon11:c.A1652T:p.D551V,PAMR1:NM_001282675:exon12:c.A1481T:p.D494V	.	426	1088	7	1	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.369770803232	0.0036	0.00159744	0.0035	0.0011	0.0029	0	0.0006	0.0048	0.0055	0.0033	0.0034799	538	154602	rs138978009	0.0045	0.0046	0.0045	0.0046	0.0053	0.0045	0.0044	0.0052	0.0051	0.0008	0.0023	0.0013	5.038e-05	0.0013	0.0016	0.0053	0.0033	0.0036	0.0032	0.0032	0.0034	0.0029	0.0053	0.0029	0.0028	0.0049	0.0047	0.0010	0	0.0023	0.0009	0.0006	0.0012	0	0.0053	0.0019	0.0046	.	.	.	0.031	0.61642	D	0.573	0.77913	P	0.369	0.69585	B	0.000066	0.52346	D	0.184737	1	0.81001	D	1.945	0.52268	M	-3.4	0.94260	D	-3.93	0.73267	D	0.563	0.58713	0.868	0.95250	D	0.839	0.94628	D	10	0.021093369	0.00498	T	0.369771	0.92717	D	0.733	0.90677	.	.	0.699374645127	0.69677	0.6468087018505764	0.64615	.	.	0.323241233826	0.13912	T	0.463826	0.83975	T	-0.0393058	0.46053	T	0.172268	0.81544	D	0.0152139434610797	0.00334	T	0.933807	0.85735	D	0.85598934	0.87781	0.73545575	0.84365	0.85598934	0.87783	0.73545575	0.84366	-11.134	0.80387	D	.	.	0.273	0.56324	B	.;.;.;.;.;.	.;.;.;.;.;.	4.326572	0.66257	24.9	0.99473215296400908	0.66472	0.97594	0.75777	D	AEFGBI	0.760383	0.69842	D	0.510256157878401	0.67696	5.116035	0.547344465950344	0.71213	5.620583	0.999999999454718	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	4.983000	0.63555	7.894000	0.73204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.633	0.76680	858	0.34001	.;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;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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.020202	0.001359	0.000000	0.000000	0.000000	0.003049	0.011450	0.02632	1346.33	33	chr11	35434537	.	T	A	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.619;DP=858;ExcessHet=0;FS=0.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.465;SOR=0.531	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1360,0,1387	18	0	1	0
chr11	46682106	46682106	C	T	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon5:c.G394A:p.D132N	.	426	1095	1	0	0	1	0.000456413	.	.	.	2216849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00833706155596	.	.	3.295e-05	0	0	0.0002	0	2.998e-05	0	0	2.59e-05	4	154602	rs764362910	5.678e-05	5.678e-05	5.581e-05	5.775e-05	0.0002	4.676e-05	4.301e-05	9.928e-05	7.224e-05	2.987e-05	0	0	0.0002	0	0	6.115e-05	3.312e-05	4.638e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.504	0.08408	T	0.492	0.11479	T	0.005	0.12996	B	0.01	0.14941	B	0.000056	0.53742	D	0.194458	0.999267	0.46490	D	0.615	0.15706	N	1.8	0.25344	T	-0.19	0.09965	N	0.296	0.33469	-1.0811	0.07137	T	0.047	0.20195	T	10	0.1432558	0.27200	T	0.008337	0.22080	T	0.122	0.33800	0.277	0.23004	0.368743488249	0.36480	0.18575645104797986	0.18493	0.285880327356	0.31000	0.706528067589	0.68090	T	0.183804	0.53626	T	-0.456028	0.01040	T	-0.667127	0.07793	T	0.0665910755738929	0.08164	T	0.483352	0.59215	T	0.07442849	0.16702	0.0669337	0.13778	0.07442849	0.16702	0.0669337	0.13778	-2.636	0.06782	T	.	.	0.099	0.16800	B	.;.	.;.	3.891673	0.56626	23.8	0.99477595784271677	0.66687	0.92553	0.55982	D	AEFDGBI	0.487955	0.52648	N	-0.256085229739768	0.30861	1.724848	-0.0602343990414031	0.37052	2.164204	0.99999870308273	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	3.367000	0.52075	7.650000	0.63651	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.776000	0.36750	0.0:1.0:0.0:0.0	18.508	0.90857	19	0.98577	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1187.33	33	chr11	46682106	.	C	T	1187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.748;DP=719;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.296;SOR=0.816	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1201,0,1160	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,23:193:99:0|1:56375923_A_G:454,0,7069:56375923	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,23:193:99:0|1:56375923_A_G:454,0,7069:56375923	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,23:193:99:0|1:56375923_A_G:454,0,7069:56375923	2	0	16	1
chr11	57309449	57309449	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G3262A:p.G1088S	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	0.0189572896583	.	0.000199681	2.473e-05	9.621e-05	8.642e-05	0	0	1.5e-05	0	0	5.82e-05	9	154602	rs201237928	3.557e-05	3.557e-05	3.539e-05	3.575e-05	0.0003	2.762e-05	2.501e-05	0.0002	0.0001	0	0.0003	0	5.038e-05	0	0	3.147e-05	1.656e-05	1.159e-05	3.282e-05	3.28e-05	3.855e-05	2.685e-05	0.0002	1.26e-05	7.97e-06	5.279e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	0.172	0.22660	T	0.931	0.02768	T	0.086	0.24919	B	0.016	0.17743	B	0.073143	0.21364	N	0.395914	1	0.08975	N	1.115	0.28702	L	1.6	0.28604	T	0.08	0.06026	N	0.102	0.08506	-1.0459	0.15563	T	0.042	0.17910	T	10	0.028406888	0.00973	T	0.018957	0.41188	T	0.000	0.00003	.	.	0.241664281697	0.23763	0.20434769184930754	0.20351	0.084899558315	0.09594	0.337029099464	0.15993	T	0.003075	0.02473	T	-0.402233	0.02239	T	-0.634029	0.10110	T	0.0315518429771365	0.02234	T	0.568143	0.20156	T	0.10436165	0.24670	0.052137297	0.08532	0.10436165	0.24670	0.052137297	0.08532	-2.421	0.05263	T	.	.	0.080	0.09239	B	.;.	.;.	0.863716	0.12360	8.900	0.51446254224244126	0.04564	0.05825	0.11765	N	AEFDBCI	0.044853	0.07267	N	-0.992640711399623	0.08760	0.4119849	-1.01943639772961	0.09357	0.4651115	0.999913329142788	0.45857	0.722319	0.85440	0	0.643519	0.57511	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.05	0.505	0.16157	-0.303000	0.08249	0.187000	0.15699	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.4266:0.0:0.5734	8.250	0.30872	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2126.33	33	chr11	57309449	.	C	T	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.4;DP=1021;ExcessHet=0;FS=1.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.104;SOR=0.59	GT:AD:DP:GQ:PL	0/1:81,72:153:99:2140,0,2013	18	0	1	0
chr11	57491258	57491258	C	T	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon11:c.G1159A:p.A387T,SLC43A1:NM_003627:exon11:c.G1159A:p.A387T	.	429	1084	9	0	0	9	0.00413413	.	.	.	712883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0060	0.00698882	0.0027	0.0211	0.0009	0	0	0.0002	0.0012	0.0056	0.002348	363	154602	rs114947771	0.0010	0.0010	0.0009	0.0010	0.0197	0.0009	0.0009	0.0184	0.0179	0.0197	0.0010	0	0	0	0.0037	0.0001	0.0019	0.0049	0.0054	0.0054	0.0053	0.0055	0.0177	0.0051	0.0049	0.0166	0.0162	0.0177	0	0.0021	0	0	0	0.0171	0.0003	0.0019	0.0041	0.458	0.08787	T	0.331	0.18505	T	0.004	0.12183	B	0.005	0.11217	B	0.600318	0.10965	N	0.822262	1	0.08975	N	1.675	0.43121	L	1.94	0.22678	T	-0.5	0.15782	N	0.056	0.02759	-0.9578	0.39589	T	0.014	0.05513	T	10	0.0025629401	0.00039	T	.	.	.	0.062	0.17934	.	.	0.148003135375	0.14442	0.09573862774891537	0.09505	0.257828214708	0.28344	0.248316913843	0.03593	T	0.320658	0.69183	T	-0.693018	0.00040	T	-0.751993	0.03409	T	0.00357389410588122	0.00038	T	0.624837	0.24114	T	0.031993896	0.03142	0.043555982	0.05446	0.031993896	0.03141	0.043555982	0.05445	-3.384	0.14842	T	.	.	0.068	0.02894	B	.;.	.;.	-0.247421	0.02858	0.403	0.93237251752199024	0.22921	0.03039	0.07929	N	AEFBCI	0.073828	0.14778	N	-0.976152821674778	0.09114	0.4300726	-0.927800004841996	0.11440	0.5827834	0.810500358021345	0.24346	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.68	0.014	0.13420	0.040000	0.13791	-6.986000	0.01258	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.1235:0.7051:0.0:0.1715	7.396	0.26111	71	0.96981	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2405.33	38	chr11	57491258	.	C	T	2405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.022;DP=916;ExcessHet=0;FS=1.731;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.573;SOR=0.837	GT:AD:DP:GQ:PL	0/1:98,101:199:99:2419,0,2253	18	0	1	0
chr11	60869160	60869160	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon2:c.G212A:p.R71Q	Oocyte maturation defect 1, Autosomal recessive	149	1343	27	3	0	33	0.0121368	.	.	.	2224241	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	0.00510725465637	0.0040	0.00319489	0.0033	0.0027	0.0021	0.0002	0.0005	0.0036	0.0022	0.0060	0.0032341	500	154602	rs140966353	0.0036	0.0036	0.0035	0.0037	0.0123	0.0035	0.0035	0.0100	0.0092	0.0023	0.0026	0.0072	5.038e-05	0.0003	0.0123	0.0036	0.0043	0.0056	0.0029	0.0029	0.0028	0.0030	0.0046	0.0027	0.0026	0.0032	0.0030	0.0025	0	0.0041	0.0078	0	0.0006	0.0102	0.0031	0.0038	0.0046	0.279	0.15561	T	0.331	0.18505	T	0.01	0.15535	B	0.001	0.04355	B	0.813309	0.09234	N	0.892825	1	0.08975	N	0.46	0.12951	N	1.91	0.23283	T	-0.35	0.12847	N	0.314	0.35408	-1.0011	0.29602	T	0.033	0.14029	T	10	0.007021308	0.00160	T	0.005107	0.12970	T	0.027	0.05988	.	.	0.0482279557977	0.04254	0.4175740929164195	0.41673	0.0750845404494	0.08422	0.270309835672	0.06182	T	0.033341	0.22872	T	-0.691409	0.00041	T	-0.764433	0.02956	T	0.00270313092441496	0.00028	T	0.725427	0.33942	T	0.041597556	0.06155	0.041831125	0.04843	0.03818147	0.05038	0.035043903	0.02681	-4.572	0.31818	T	0.13999414575074068	0.15628	0.082	0.08948	B	.	.	0.521294	0.08901	5.681	0.9543046288191338	0.26922	0.01474	0.04912	N	AEFGBI	0.041938	0.06443	N	-1.18969183863936	0.05155	0.2343442	-1.3221762622758	0.04145	0.1948726	0.999019229266028	0.38212	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.19	-5.18	0.02624	-1.189000	0.03170	-3.097000	0.03064	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.837000	0.39485	0.1948:0.331:0.4742:0.0	7.474	0.26533	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.008056	0.000000	0.005435	0.002924	0.000000	0.008621	0.018293	0.018939	0.02632	2262.33	37	chr11	60869160	.	G	A	2262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.291;SOR=0.714	GT:AD:DP:GQ:PL	0/1:103,95:198:99:2276,0,2426	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,23:92:99:0|1:61740527_G_C:304,0,2136:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,23:91:99:0|1:61740527_G_C:307,0,2101:61740527	2	0	17	0
chr11	62870838	62870838	-	TAATAA	splicing	SLC3A2	NM_002394:exon2:c.205+1->TAATAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1026	0.0714	0.1042	0.0778	.	0.1722	0.0690	0.0830	0.0001153	3	26028	rs770752670	0.0214	0.0077	0.0272	0.0190	0.0251	0.0203	0.0198	0.0192	0.0181	0.0050	0.0251	0.0487	0.0030	0.0409	0.0175	0.0197	0.0169	0.0220	0.0069	0.0082	0.0071	0.0066	0.0117	0.0065	0.0063	0.0101	0.0095	0.0022	0.0013	0.0117	0.0353	0.0018	0.0008	0.0120	0.0082	0.0108	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	721.18	1	chr11	62870838	.	G	GTAATAA	721.18	.	AC=3;AF=0.107;AN=28;BaseQRankSum=1.5;DP=82;ExcessHet=0.0004;FS=3.362;InbreedingCoeff=0.4716;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=25.76;ReadPosRankSum=-0.967;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,2:3:15:.:.:81,0,15:.	12	1	1	5
chr11	64165807	64165807	G	A	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon1:c.C188T:p.A63V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0688907682075	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262805816	7.496e-07	1.437e-05	0	1.519e-06	9.502e-07	0	0	.	.	0	0	0	0	0	0	9.502e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.011	0.64786	D	0.509	0.37289	P	0.051	0.25434	B	0.345533	0.13896	N	0.586825	0.983264	0.24898	N	1.7	0.43825	L	2.06	0.20523	T	-0.45	0.14782	N	0.165	0.17416	-1.0479	0.14988	T	0.032	0.13898	T	10	0.08661398	0.14738	T	0.068891	0.70578	D	0.037	0.09474	0.222	0.14518	0.0806252709748	0.07271	0.25037880673049945	0.24951	1.78550268228	0.91441	0.79512822628	0.81222	T	0.05386	0.29560	T	-0.260935	0.12791	T	-0.612592	0.11776	T	0.327791333198547	0.26136	T	0.49935	0.15589	T	0.08335655	0.19245	0.0783419	0.17538	0.08335655	0.19245	0.0783419	0.17538	-4.131	0.25745	T	.	.	0.127	0.26855	B	.	.	2.168071	0.27628	17.53	0.99515679960599313	0.68919	0.52871	0.29235	D	AEFDBHCI	0.118689	0.23198	N	-0.332474493464203	0.27920	1.535824	-0.317785393317078	0.27525	1.527899	0.999999999994856	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	2.96	2.0	0.25495	1.193000	0.31771	1.098000	0.24042	0.509000	0.23192	0.028000	0.20300	0.084000	0.22431	0.638000	0.32368	0.0:0.2602:0.7398:0.0	7.765	0.28141	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	464.33	34	chr11	64165807	.	G	A	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=663;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.241;SOR=1.058	GT:AD:DP:GQ:PL	0/1:21,15:36:99:478,0,493	18	0	1	0
chr11	66021520	66021520	G	A	exonic	CATSPER1	.	nonsynonymous SNV	CATSPER1:NM_053054:exon4:c.C1667T:p.A556V	Spermatogenic failure 7, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.115719938219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.0	0.92824	D	0.569	0.38523	P	0.743	0.55802	P	0.005227	0.32979	U	0.000000	0.961134	0.26119	N	0.975	0.24501	L	-4.65	0.97938	D	-1.99	0.45949	N	0.318	0.35832	0.537	0.91064	D	0.892	0.96418	D	10	0.5128972	0.62200	D	0.11572	0.79498	D	0.622	0.85354	0.63	0.76588	0.951954391788	0.95144	0.7179642290769719	0.71739	0.936858248025	0.72051	0.541354954243	0.44637	T	0.387933	0.74873	T	0.16614	0.70769	D	0.000871725	0.70393	D	0.916973054409027	0.57462	D	0.671933	0.28057	T	0.11442323	0.27012	0.17749643	0.40355	0.11442323	0.27012	0.17749643	0.40354	-8.456	0.64137	D	.	.	0.219	0.44898	B	.	.	4.332449	0.66395	25.0	0.99886568343912352	0.96126	0.77861	0.38334	D	AEFDGBI	0.269357	0.38565	N	0.0618818927737443	0.44691	2.738553	0.0987206763164578	0.44484	2.729337	0.999999603663635	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.591603	0.36755	0	.	.	4.99	4.06	0.46572	3.312000	0.51637	2.479000	0.32931	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.237000	0.22922	0.0:0.1836:0.8164:0.0	11.355	0.48848	207	0.91931	Ion transport domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	762.33	36	chr11	66021520	.	G	A	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.73;DP=735;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=0.887;SOR=0.873	GT:AD:DP:GQ:PL	0/1:64,33:97:99:776,0,1869	18	0	1	0
chr11	67404353	67404353	G	C	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369492:exon1:c.G151C:p.G51R,TBC1D10C:NM_001369496:exon1:c.G151C:p.G51R,TBC1D10C:NM_001369498:exon1:c.G151C:p.G51R,TBC1D10C:NM_001256508:exon2:c.G151C:p.G51R,TBC1D10C:NM_001369497:exon2:c.G151C:p.G51R,TBC1D10C:NM_198517:exon2:c.G151C:p.G51R	.	410	1108	4	0	0	4	0.0018018	0.0001	0.006	.	3916575	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00344367774307	7.7e-05	.	6.336e-05	0	0	0	0	4.886e-05	0	0.0003	5.17e-05	8	154602	rs147597470	3.87e-05	3.831e-05	2.918e-05	4.847e-05	0.0016	3.044e-05	2.731e-05	0.0008	0.0006	0.0002	7.339e-05	0	0	0	0.0016	1.566e-05	3.425e-05	0.0002	3.285e-05	3.283e-05	2.57e-05	4.034e-05	0.0004	1.261e-05	7.98e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.137	0.25979	T	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	0.115402	0.19235	N	0.374482	0.854668	0.28445	N	1.39	0.34934	L	2.22	0.18248	T	-1.83	0.42957	N	0.226	0.25377	-0.9768	0.35727	T	0.019	0.08079	T	10	0.07507613	0.11558	T	0.003444	0.07755	T	0.052	0.14661	0.257	0.19845	0.332133492242	0.32818	0.43886102748497424	0.43803	0.23887650308	0.26443	0.591272413731	0.51673	T	0.02228	0.17204	T	-0.469589	0.00855	T	-0.618822	0.11277	T	0.0410149517993649	0.03874	T	0.834017	0.50309	T	0.030168483	0.02633	0.03620215	0.03021	0.030168483	0.02633	0.03620215	0.03021	-6.233	0.50724	T	.	.	0.220	0.45111	B	.;.;.	.;.;.	3.098966	0.41754	21.4	0.95880175776400978	0.28073	0.80848	0.40383	D	AEFDGBCIJ	0.337115	0.43502	N	-0.687717461068177	0.16371	0.833466	-0.570554578792368	0.20262	1.090865	0.99999975246033	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.91	0.7	0.17258	0.972000	0.29007	3.596000	0.39206	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.998000	0.85391	0.1518:0.1267:0.5909:0.1305	3.978	0.08976	490	0.76723	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	33	chr11	67404353	.	G	C	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.868;SOR=0.602	GT:AD:DP:GQ:PL	0/1:35,26:61:99:568,0,873	18	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S,NDUFV1:NM_007103:exon2:c.C89G:p.T30S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	556.75	153	chr11	67608412	.	C	G	556.75	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-4.434;DP=2846;ExcessHet=2.0135;FS=131.701;InbreedingCoeff=-0.3119;MLEAC=8;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.15;SOR=11.518	GT:AD:DP:GQ:PL	0/1:120,30:161:99:104,0,2389	8	0	6	5
chr11	68688091	68688091	A	G	exonic	GAL	.	nonsynonymous SNV	GAL:NM_015973:exon4:c.A214G:p.M72V	.	.	.	.	.	.	.	.	.	.	.	3254288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00214719092849	.	.	4.168e-05	0	0	0	0	7.598e-05	0	0	3.23e-05	5	154602	rs765429698	3.848e-05	3.899e-05	3.967e-05	3.727e-05	0.0002	3.039e-05	2.731e-05	3.736e-05	3.388e-05	0	0	0	0	0	0.0002	4.79e-05	1.662e-05	1.161e-05	1.314e-05	1.313e-05	2.57e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.66	0.04699	T	0.589	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.230990	0.03518	N	1.586860	1	0.08975	N	-1.175	0.00869	N	1.06	0.39781	T	-0.17	0.09627	N	0.064	0.03613	-1.0386	0.17740	T	0.033	0.14160	T	10	0.036254793	0.01914	T	0.002147	0.04016	T	0.007	0.00512	.	.	0.144782658237	0.14088	0.11182278287102547	0.11111	0.12717885238	0.14329	0.248940855265	0.03656	T	0.093339	0.39190	T	-0.507458	0.00519	T	-0.810339	0.01658	T	0.0127014159373043	0.00214	T	0.238676	0.03398	T	0.039132986	0.05346	0.038671743	0.03789	0.039132986	0.05346	0.038671743	0.03789	-2.332	0.04733	T	0.06566685278025787	0.02183	0.050	0.00154	B	.	.	-1.048886	0.00704	0.021	0.35118886107173131	0.02186	0.01797	0.05612	N	AEFDBCI	0.033163	0.03882	N	-1.62170149599371	0.01160	0.05041653	-1.63649580490618	0.01447	0.06546014	0.922563865715092	0.26713	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.03	-4.48	0.03267	-1.492000	0.02405	-0.005000	0.13145	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5746:0.1497:0.2757:0.0	5.909	0.18258	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	.	.	.	.	.	.	.	.	0.02632	1085.33	34	chr11	68688091	.	A	G	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.335;DP=725;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.365;SOR=0.571	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1099,0,1610	18	0	1	0
chr11	70078649	70078649	C	T	exonic	ANO1	.	nonsynonymous SNV	ANO1:NM_001378094:exon1:c.C43T:p.R15C,ANO1:NM_001378095:exon1:c.C43T:p.R15C,ANO1:NM_001378096:exon1:c.C43T:p.R15C,ANO1:NM_001378097:exon1:c.C43T:p.R15C,ANO1:NM_018043:exon1:c.C43T:p.R15C,ANO1:NM_001378092:exon2:c.C166T:p.R56C,ANO1:NM_001378093:exon2:c.C43T:p.R15C	.	.	.	.	.	.	.	.	.	.	.	2358576	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.747539820064	0.0002	0.000199681	7.018e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs199763025	6.654e-05	6.909e-05	6.476e-05	6.833e-05	0.0009	5.506e-05	5.096e-05	0.0004	0.0002	0.0001	7.975e-05	0	0	0	0.0009	7.439e-05	1.87e-05	0	5.355e-05	5.258e-05	3.92e-05	6.861e-05	0.0001	2.599e-05	1.86e-05	4.833e-05	3.383e-05	2.421e-05	0	0	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.046	0.76473	D	0.875	0.48103	P	0.132	0.33005	B	0.190202	0.16867	U	0.444680	1	0.81001	D	0	0.06538	N	-0.12	0.64630	T	-1.4	0.38345	N	0.193	0.21188	-1.0216	0.23195	T	0.107	0.39027	T	9	0.15349266	0.28972	T	0.74754	0.97984	D	0.185	0.45933	.	.	0.539689378838	0.53620	0.44228719200427297	0.44145	0.912084979948	0.71099	0.755538463593	0.75266	T	0.158039	0.50089	T	-0.140989	0.29732	T	-0.243326	0.50472	T	0.12323371530391	0.14743	T	0.946505	0.79528	D	0.14113884	0.32535	0.122131996	0.29462	0.14113884	0.32534	0.122131996	0.29461	-4.206	0.26838	T	.	.	0.272	0.58197	B	.;.	.;.	4.354941	0.66921	25.0	0.99839070231122462	0.91972	0.64594	0.32458	D	AEFDBHCI	0.172842	0.29990	N	-0.0945316201467512	0.37632	2.192191	-0.0528990045899097	0.37364	2.186812	0.99999972882526	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.23	2.2	0.26966	1.775000	0.38213	2.959000	0.35747	0.428000	0.20880	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.2934:0.5813:0.0:0.1252	5.058	0.13878	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001535	0.005208	0.001362	0.000000	0.000000	0.000000	0.003165	0.000000	0.02632	1143.33	34	chr11	70078649	.	C	T	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.421;DP=723;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.359;SOR=0.828	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1157,0,1039	18	0	1	0
chr11	71549001	71549001	G	T	exonic	KRTAP5-9	.	nonsynonymous SNV	KRTAP5-9:NM_005553:exon1:c.G344T:p.C115F	.	407	1101	12	0	2	14	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0038	0.000399361	0.0035	0.0006	0.0016	0	0.0005	0.0055	0.0110	0.0013	0.0033893	524	154602	rs117137984	0.0039	0.0039	0.0038	0.0039	0.0150	0.0038	0.0038	0.0124	0.0115	0.0005	0.0022	0.0300	2.519e-05	0.0003	0.0150	0.0038	0.0055	0.0016	0.0029	0.0028	0.0030	0.0027	0.0037	0.0026	0.0025	0.0033	0.0032	0.0007	0	0.0022	0.0269	0	0.0002	0.0139	0.0037	0.0053	0.0008	0.0	0.91255	D	0.003	0.76473	D	0.523	0.37559	P	0.299	0.41006	B	.	.	.	.	0.999813	0.20249	N	3.77	0.95173	H	3.82	0.03728	T	-6.3	0.90771	D	0.204	0.22614	-1.0319	0.19841	T	0.015	0.06282	T	9	0.005451739	0.00120	T	.	.	.	0.052	0.14661	.	.	0.306695030598	0.30287	.	.	0.147936380739	0.16687	.	.	.	0.100477	0.40632	T	-0.472536	0.00820	T	-0.449208	0.27785	T	0.128075466859228	0.15202	T	0.308669	0.05963	T	0.41504446	0.61760	0.40688035	0.65049	0.41504446	0.61760	0.40688035	0.65049	-8.074	0.61574	D	.	.	0.107	0.20038	B	.	.	1.659236	0.21164	15.08	0.82675549680281257	0.14316	0.09305	0.15088	N	AEFDBCI	0.082756	0.16760	N	-0.302047688813159	0.29071	1.608899	-0.499828655849234	0.22159	1.202206	0.999798386518099	0.43153	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.21	1.21	0.20240	4.878000	0.62786	.	.	0.575000	0.29119	0.357000	0.25817	0.034000	0.21380	0.002000	0.04165	0.2633:0.0:0.7366:0.0	3.524	0.07311	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013742	0.005051	0.013587	0.008197	0.050000	0.017241	0.030488	0.007576	0.02632	4348.33	34	chr11	71549001	.	G	T	4348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=1498;ExcessHet=0;FS=0.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.081;SOR=0.731	GT:AD:DP:GQ:PL	0/1:132,146:278:99:4362,0,3711	18	0	1	0
chr11	72195749	72195749	T	C	splicing	FOLR1	NM_016725:exon4:c.493+2T>C;NM_016724:exon5:c.493+2T>C;NM_000802:exon4:c.493+2T>C;NM_016729:exon3:c.493+2T>C	.	.	Neurodegeneration due to cerebral folate transport deficiency, Autosomal recessive	0	1478	43	1	0	45	0.014995	0.9990	0.734	.	101647	FOLR1-related_disorder|Inborn_genetic_diseases|Seizure|Cerebral_folate_transport_deficiency|not_provided	.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0013110,MedGen:C2751584,OMIM:613068,Orphanet:217382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0021	0.00339457	0.0034	0.0005	0.0028	0.0001	0.0006	0.0021	0.0066	0.0137	0.0032018	495	154602	rs144637717	0.0028	0.0028	0.0024	0.0032	0.0130	0.0027	0.0027	0.0123	0.0121	0.0002	0.0015	0.0068	2.519e-05	0.0004	0.0085	0.0022	0.0035	0.0130	0.0018	0.0018	0.0014	0.0022	0.0137	0.0016	0.0015	0.0111	0.0101	0.0004	0	0.0009	0.0052	0	0.0007	0	0.0020	0.0033	0.0137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242793	0.14994	T	-0.109855	0.62623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.260422	0.64748	24.7	0.97734597925983624	0.35640	0.98800	0.87016	D	AEFDGBI	.	.	.	0.941507637658203	0.93639	12.17477	0.736215265635132	0.85123	8.487886	0.999912376900708	0.45857	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.924668	0.58650	5.08	5.08	0.68373	4.313000	0.58952	4.786000	0.44868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0:0.0:0.0:1.0	13.986	0.63851	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2302.33	40	chr11	72195749	.	T	C	2302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.422;DP=811;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.57;SOR=0.898	GT:AD:DP:GQ:PL	0/1:76,97:173:99:2316,0,2088	18	0	1	0
chr11	74921217	74921217	T	C	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378158:exon7:c.A653G:p.E218G,XRRA1:NM_001270380:exon8:c.A629G:p.E210G,XRRA1:NM_001378157:exon8:c.A653G:p.E218G,XRRA1:NM_001378159:exon8:c.A653G:p.E218G,XRRA1:NM_001378160:exon8:c.A653G:p.E218G,XRRA1:NM_182969:exon8:c.A629G:p.E210G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0473167553356	.	.	1.661e-05	0	8.651e-05	0	0	0	0	6.089e-05	1.29e-05	2	154602	rs747088502	5.474e-06	5.472e-06	4.085e-06	6.877e-06	8.117e-05	2.36e-06	1.7e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.014	0.92824	D	0.985	0.77913	D	0.541	0.73562	P	0.043259	0.23758	N	0.394081	1	0.81001	D	2.35	0.67516	M	1.83	0.53516	T	-0.88	0.26843	N	0.685	0.69913	-0.7545	0.57699	T	0.192	0.54418	T	10	0.22503391	0.39323	T	0.047317	0.62865	D	0.144	0.38394	0.371	0.38176	0.634282618606	0.63128	0.38822990510683114	0.38737	0.326245588673	0.34772	0.502554297447	0.39183	T	0.002677	0.02065	T	-0.159853	0.26781	T	-0.285867	0.46201	T	0.826871812343597	0.48289	D	0.737926	0.35508	T	0.085570246	0.19855	0.10823035	0.26067	0.085570246	0.19854	0.10823035	0.26067	-8.445	0.66817	D	.	.	0.172	0.37671	B	.;.;.	.;.;.	2.846330	0.37562	20.5	0.99561129181582175	0.71769	0.91919	0.54548	D	AEFBI	0.162961	0.28919	N	0.28145771209339	0.55208	3.685106	0.259671758994943	0.53201	3.490287	0.0314572975246136	0.14002	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.636168	0.56350	0	.	.	4.9	3.68	0.41359	2.083000	0.41239	4.980000	0.46456	0.609000	0.47794	0.986000	0.36153	1.000000	0.68203	0.352000	0.25704	0.1929:0.0:0.0:0.8071	7.436	0.26326	686	0.59327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2335.33	34	chr11	74921217	.	T	C	2335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.634;DP=802;ExcessHet=0;FS=0.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.831;SOR=0.772	GT:AD:DP:GQ:PL	0/1:81,90:171:99:2349,0,2255	18	0	1	0
chr11	75449537	75449537	A	G	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon4:c.T134C:p.F45S,GDPD5:NM_030792:exon8:c.T548C:p.F183S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0192104057348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163137195	2.099e-06	4.104e-06	1.386e-06	2.826e-06	7.811e-05	5.6e-07	1.6e-07	2.071e-05	1.074e-05	0	0	0	7.811e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.51853	D	0.05	0.51421	T	0.539	0.54515	P	0.284	0.55529	B	0.000004	0.62929	D	0.107027	0.99995	0.81001	D	2.19	0.61577	M	2.36	0.16351	T	-3.87	0.79998	D	0.749	0.78262	-1.0799	0.07368	T	0.084	0.32900	T	10	0.4852656	0.60670	T	0.01921	0.41510	T	0.186	0.46104	0.532	0.64002	0.312608672186	0.30878	0.8051853480710209	0.80473	0.573995921077	0.53440	0.582898437977	0.50493	T	0.290007	0.66279	T	0.0465616	0.57900	T	-0.170894	0.57362	T	0.931780338287354	0.59736	D	0.946705	0.85096	D	0.55149484	0.70039	0.59360075	0.76412	0.55149484	0.70040	0.59360075	0.76413	-9.587	0.71400	D	.	.	0.619	0.73165	P	.;.;.;.	.;.;.;.	4.079422	0.60676	24.2	0.99691721326413751	0.79977	0.88698	0.48750	D	AEFGBHI	0.566358	0.57238	D	0.335250422895539	0.57966	3.966299	0.376873699840283	0.60142	4.198643	0.999996104586152	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	8.126000	0.89466	8.025000	0.76247	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	1.0:0.0:0.0:0.0	12.901	0.57515	714	0.56256	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	37	chr11	75449537	.	A	G	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.137;DP=768;ExcessHet=0;FS=4.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.8;ReadPosRankSum=-1.233;SOR=0.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,38:73:99:0|1:75449530_G_A:1459,0,1301:75449530	18	0	1	0
chr11	94998442	94998442	A	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.A1070G:p.E357G	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0037	0.00998403	0.0072	0.0097	0.0024	0.0002	0	0.0020	0.0188	0.0355	0.0063906	988	154602	rs76057256	0.0039	0.0039	0.0028	0.0050	0.0361	0.0038	0.0038	0.0351	0.0347	0.0100	0.0025	3.826e-05	0.0002	0.0001	0.0142	0.0016	0.0054	0.0361	0.0058	0.0058	0.0059	0.0056	0.0304	0.0054	0.0053	0.0264	0.0249	0.0111	0	0.0089	0.0003	0	9.411e-05	0.0102	0.0017	0.0066	0.0304	0.005	0.63226	D	0.075	0.42794	T	0.986	0.61523	D	0.717	0.54739	P	0.000006	0.62929	U	0.000000	1	0.08975	N	1.935	0.51832	L	1.46	0.32238	T	-5.57	0.86372	D	0.042	0.02559	-1.0566	0.12621	T	0.055	0.23224	T	10	0.004995674	0.00107	T	.	.	.	0.082	0.23913	.	.	0.372268306217	0.36840	0.7254151298995516	0.72485	0.691323969143	0.60588	0.365792542696	0.20226	T	0.341384	0.71029	T	-0.607426	0.00131	T	-0.618842	0.11275	T	0.0720550780844124	0.08936	T	0.242976	0.03512	T	0.41269726	0.61602	0.2966068	0.55694	0.41269726	0.61603	0.2966068	0.55693	-5.24	0.39346	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	1.733267	0.22059	15.46	0.99500475937407351	0.67973	0.47774	0.28058	N	AEFDGBI	0.074009	0.14822	N	-0.296844974326509	0.29270	1.621704	-0.500331210384512	0.22145	1.201373	0.0135475313907863	0.12479	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.56	-1.5	0.08233	0.980000	0.29111	-1.299000	0.05779	0.658000	0.54486	0.756000	0.29198	0.000000	0.08366	0.140000	0.19946	0.5476:0.182:0.2704:0.0	4.004	0.09081	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017623	0.000000	0.013587	0.020468	0.050000	0.008621	0.009146	0.034091	0.02632	2341.33	33	chr11	94998442	.	A	G	2341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.073;DP=805;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.807;SOR=0.828	GT:AD:DP:GQ:PL	0/1:69,88:157:99:2355,0,1899	18	0	1	0
chr11	100193496	100193496	A	G	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon12:c.A1495G:p.R499G,CNTN5:NM_001243270:exon14:c.A1717G:p.R573G,CNTN5:NM_001243271:exon15:c.A1717G:p.R573G,CNTN5:NM_014361:exon15:c.A1717G:p.R573G	.	437	1054	27	4	0	35	0.0163322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0007	0.00159744	0.0044	0	0.0030	0	0	0.0027	0	0.0161	0.0020569	318	154602	rs200731024	0.0016	0.0016	0.0012	0.0020	0.0123	0.0015	0.0015	0.0117	0.0114	3.133e-05	0.0012	0.0107	0	0	0.0071	0.0007	0.0023	0.0123	0.0011	0.0011	0.0009	0.0012	0.0097	0.0009	0.0009	0.0075	0.0067	7.223e-05	0	0.0012	0.0078	0	0	0.0170	0.0009	0.0024	0.0097	0.012	0.54683	D	0.035	0.53072	D	0.96	0.55278	D	0.859	0.61184	P	0.000012	0.62929	D	0.175821	0.996414	0.43191	D	2.275	0.64647	M	1.58	0.29085	T	-3.91	0.74427	D	0.668	0.69562	-0.9319	0.43859	T	0.147	0.47255	T	10	0.013655394	0.00289	T	.	.	.	0.219	0.51417	.	.	0.563062970572	0.55969	0.8011983030890661	0.80073	0.248086709268	0.27368	0.428054273129	0.28942	T	0.612741	0.87751	D	-0.323379	0.06624	T	-0.227893	0.51976	T	0.120874370237199	0.14515	T	0.822518	0.48242	T	0.3360538	0.55963	0.38919717	0.63745	0.3360538	0.55963	0.38919717	0.63745	-9.233	0.69185	D	.	.	0.237	0.61316	B	.;.;.;.;.;.	.;.;.;.;.;.	3.973132	0.58349	24.0	0.9982098746423943	0.90414	0.79615	0.39485	D	AEFI	0.469586	0.51590	N	0.342777765884519	0.58359	4.007656	0.311364403568257	0.56206	3.78372	3.46423760961881E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	3.52	0.39415	1.332000	0.33410	6.815000	0.56657	0.756000	0.94297	0.955000	0.33325	1.000000	0.68203	0.971000	0.54645	0.7274:0.2726:0.0:0.0	12.087	0.53001	946	0.12043	.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-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	0.006048	0.005051	0.004076	0.002924	0.000000	0.008621	0.012270	0.007576	0.02632	903.33	33	chr11	100193496	.	A	G	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.114;DP=723;ExcessHet=0;FS=4.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.366;SOR=0.362	GT:AD:DP:GQ:PL	0/1:59,38:97:99:917,0,1630	18	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	G	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,11:113:71:.:.:71,0,4124:.	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,24:110:99:0|1:106010660_C_G:355,0,1663:106010660	1	0	10	8
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1364	1642.33	203	chr11	106010663	.	C	G	1642.33	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-4.095;DP=2463;ExcessHet=0.3672;FS=251.882;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.04;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,9:113:51:0|1:106010660_C_G:51,0,4266:106010660	8	0	3	8
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1643.52	203	chr11	106010664	.	A	G	1643.52	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.742;DP=2434;ExcessHet=0.3672;FS=249.098;InbreedingCoeff=-0.2683;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=2.14;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,9:114:48:0|1:106010660_C_G:48,0,4297:106010660	6	0	3	10
chr11	106010666	106010666	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G252C:p.R84S,MSANTD4:NM_001318748:exon2:c.G252C:p.R84S,MSANTD4:NM_001318749:exon2:c.G252C:p.R84S,MSANTD4:NM_001318750:exon2:c.G252C:p.R84S,MSANTD4:NM_032424:exon2:c.G252C:p.R84S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00263902560473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.940449	0.37297	D	0	0.06538	N	.	.	.	-0.92	0.30346	N	0.251	0.28381	-1.0080	0.27541	T	0.094	0.35738	T	9	0.1405603	0.26716	T	0.002639	0.05377	T	0.091	0.26358	0.372	0.38340	0.242244723065	0.23846	0.4756825840453807	0.47487	0.36371238007	0.37996	0.486390650272	0.36939	T	0.038357	0.24810	T	-0.044157	0.45330	T	-0.301205	0.44598	T	0.151699825485391	0.17238	T	0.768023	0.39669	T	0.17611994	0.38507	0.08817525	0.20542	0.17611994	0.38507	0.08817525	0.20542	-1.715	0.02269	T	.	.	0.270	0.51532	B	.;.;.	.;.;.	2.446286	0.31491	18.76	0.97835174456350893	0.36285	0.94199	0.60414	D	AEFGBI	0.377723	0.46139	N	-0.305756252056347	0.28928	1.599811	-0.153352819634721	0.33280	1.902022	0.954896934348277	0.28157	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	2.85	0.32333	0.527000	0.22695	0.199000	0.15831	0.599000	0.40250	0.998000	0.41325	0.973000	0.29867	0.998000	0.85391	0.1462:0.4856:0.1263:0.2419	1.994	0.03243	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	39.95	187	chr11	106010666	.	C	G	39.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.524;DP=2221;ExcessHet=0;FS=51.273;InbreedingCoeff=-0.2459;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.81;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,9:115:45:0|1:106010660_C_G:45,0,4304:106010660	5	0	1	13
chr11	106010667	106010667	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251C:p.R84T,MSANTD4:NM_001318748:exon2:c.G251C:p.R84T,MSANTD4:NM_001318749:exon2:c.G251C:p.R84T,MSANTD4:NM_001318750:exon2:c.G251C:p.R84T,MSANTD4:NM_032424:exon2:c.G251C:p.R84T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0045302189412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.142	0.33330	T	0.006	0.13644	B	0.028	0.21332	B	0.002354	0.36727	N	0.299972	0.972449	0.38947	D	0.69	0.16971	N	.	.	.	-0.93	0.25118	N	0.472	0.50778	-0.8196	0.53959	T	0.172	0.51421	T	9	0.21586516	0.38151	T	0.00453	0.11157	T	0.261	0.57352	0.4	0.42917	0.368183359018	0.36430	0.4395240752523136	0.43869	0.554340016678	0.52180	0.520652651787	0.41718	T	0.041089	0.25741	T	0.0192097	0.54274	T	-0.210183	0.53679	T	0.5633824467659	0.34983	D	0.816918	0.47330	T	0.12641793	0.29610	0.08971571	0.20995	0.12641793	0.29609	0.08971571	0.20995	-2.359	0.04888	T	.	.	0.161	0.35643	B	.;.;.	.;.;.	3.378534	0.46720	22.3	0.92203589481258563	0.21574	0.98334	0.81734	D	AEFGBI	0.506459	0.53717	D	-0.108043926882725	0.37041	2.14946	0.0663629535781314	0.42871	2.600689	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	35.48	44	chr11	106010667	.	C	G	35.48	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.13;DP=1884;ExcessHet=0;FS=51.273;InbreedingCoeff=-0.1586;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=2.83;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,9:115:45:0|1:106010660_C_G:45,0,4304:106010660	10	0	1	8
chr11	116787938	116787938	G	A	exonic	ZPR1	.	nonsynonymous SNV	ZPR1:NM_001317086:exon1:c.C53T:p.P18L,ZPR1:NM_003904:exon1:c.C53T:p.P18L	.	366	1140	12	4	0	20	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0019	0.00239617	0.0103	0	0.0078	0	0	0.0122	0	0.0119	0.0017788	275	154602	rs201399491	0.0030	0.0030	0.0029	0.0032	0.0073	0.0030	0.0029	0.0067	0.0065	0.0005	0.0023	0.0027	0	0.0004	0.0060	0.0030	0.0028	0.0073	0.0025	0.0025	0.0027	0.0022	0.0083	0.0023	0.0022	0.0063	0.0055	0.0006	0.0011	0.0037	0.0020	0.0002	0.0002	0.0103	0.0035	0.0019	0.0083	0.084	0.32929	T	0.043	0.49942	D	0.004	0.12183	B	0.002	0.06944	B	0.111825	0.19383	N	0.541138	0.999993	0.08975	N	1.845	0.48678	L	1.0	0.41392	T	-0.31	0.12099	N	0.229	0.25745	-1.0304	0.20325	T	0.052	0.22037	T	10	0.0068852305	0.00156	T	.	.	.	0.043	0.11576	.	.	0.530011692926	0.52648	0.3534086739284269	0.35254	0.302477750187	0.32578	0.654443562031	0.60618	T	0.067876	0.33313	T	-0.468113	0.00873	T	-0.440904	0.28706	T	0.0249114520225968	0.01261	T	0.709329	0.31993	T	0.055080995	0.10657	0.03314311	0.02162	0.055080995	0.10657	0.03314311	0.02161	-6.703	0.51833	T	.	.	0.102	0.18164	B	.	.	2.894880	0.38354	20.7	0.97785345092538878	0.35963	0.13436	0.17855	N	AEFDGBHCI	0.108545	0.21589	N	-0.457693407535021	0.23480	1.261208	-0.478955744569532	0.22734	1.236284	0.99999999999993	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.249971	0.05119	0	.	.	5.64	4.73	0.59485	2.804000	0.47628	5.429000	0.48587	0.670000	0.69193	0.287000	0.25205	1.000000	0.68203	0.006000	0.07323	0.0828:0.0:0.9172:0.0	11.755	0.51140	520	0.74355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008724	0.000000	0.007042	0.003676	0.000000	0.000000	0.022876	0.008000	0.05263	1608.83	38	chr11	116787938	.	G	A	1608.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.108;DP=734;ExcessHet=0.119;FS=2.562;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.574;SOR=0.483	GT:AD:DP:GQ:PL	0/1:18,35:53:99:913,0,383	17	0	2	0
chr11	117428698	117428698	C	T	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.G5792A:p.R1931Q	.	421	1091	9	1	0	11	0.00501596	.	.	.	1469589	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.11000122047	0.0002	.	0.0004	0.0001	0.0001	0	0	0.0002	0.0014	0.0017	0.0002458	38	154602	rs145244816	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	8.963e-05	0.0003	0	2.52e-05	0	0.0028	0.0002	0.0003	0.0014	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0001	0.0016	0.0013	7.223e-05	0	0.0002	0	0	0	0	0.0002	0	0.0027	0.098	0.30800	T	0.044	0.52727	D	.	.	.	.	.	.	.	.	.	.	0.999947	0.51968	D	.	.	.	-0.01	0.63568	T	-1.03	0.28290	N	0.749	0.74826	-0.8467	0.52195	T	0.146	0.46967	T	9	0.2435965	0.41577	T	0.110001	0.78720	D	0.232	0.53354	.	.	0.885940289631	0.88482	0.4373997417049692	0.43656	0.0225984366444	0.02283	0.618798017502	0.55559	T	.	.	.	-0.0620261	0.42588	T	0.0975942	0.76748	D	0.115146037201533	0.13948	T	0.969103	0.88867	D	.	.	.	.	.	.	.	.	-4.211	0.26910	T	.	.	0.206	0.43255	B	.;.	.;.	4.512927	0.70686	25.6	0.99899561988283148	0.97199	0.93119	0.57376	D	AEFDBCI	0.833656	0.75184	D	0.298152421354868	0.56056	3.769745	0.402072086910587	0.61693	4.373163	0.999968972043825	0.48965	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	5.804000	0.68800	7.527000	0.59855	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.468	0.90708	848	0.35897	.;.	.	.	.	.	.	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	0.002535	0.000000	0.004076	0.005882	0.000000	0.000000	0.003086	0.000000	0.02632	960.33	33	chr11	117428698	.	C	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.335;SOR=0.616	GT:AD:DP:GQ:PL	0/1:35,40:75:99:974,0,774	18	0	1	0
chr11	119420329	119420329	T	C	exonic	THY1	.	nonsynonymous SNV	THY1:NM_001311160:exon3:c.A95G:p.Q32R,THY1:NM_001311162:exon3:c.A95G:p.Q32R,THY1:NM_001372050:exon3:c.A44G:p.Q15R,THY1:NM_006288:exon3:c.A95G:p.Q32R	.	.	.	.	.	.	.	.	.	.	.	3913710	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0227458353482	.	.	2.474e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs202221625	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0002	1.111e-05	9.33e-06	1.295e-05	1.106e-05	0	2.236e-05	0	0	0	0.0002	1.978e-05	0	0	1.314e-05	1.97e-05	0	2.689e-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	0.283	0.22746	T	0.193	0.32144	T	0.692	0.41662	P	0.395	0.44317	B	0.001481	0.38917	N	0.262052	0.659555	0.30461	N	2.585	0.75554	M	1.87	0.24085	T	-1.41	0.36189	N	0.535	0.56317	-0.8604	0.51234	T	0.196	0.55056	T	10	0.21487513	0.38023	T	0.022746	0.45666	T	0.079	0.23065	.	.	0.703466577133	0.70089	0.8004217131425768	0.79996	0.946334139909	0.72422	0.380586028099	0.22339	T	0.193726	0.54928	T	-0.258983	0.13020	T	-0.453422	0.27320	T	0.413637727499008	0.29454	T	0.783222	0.41972	T	0.09926092	0.23424	0.112586	0.27166	0.09926092	0.23424	0.112586	0.27165	-4.841	0.35065	T	.	.	0.117	0.34316	B	.;.;.;.;.	.;.;.;.;.	3.355863	0.46308	22.3	0.98383732411298808	0.40884	0.92812	0.56606	D	AEFDBHCIJ	0.321462	0.42425	N	0.258328498467914	0.54053	3.571818	0.282076988249607	0.54494	3.614125	0.999996744574767	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.98	3.77	0.42499	2.358000	0.43788	6.005000	0.52551	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.1698:0.0:0.0:0.8302	8.668	0.33296	817	0.41665	Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain;Immunoglobulin|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1195.33	34	chr11	119420329	.	T	C	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.341;DP=744;ExcessHet=0;FS=3.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-1.36;SOR=1.096	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1209,0,1523	18	0	1	0
chr11	121125534	121125534	C	T	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon8:c.C1436T:p.P479L,TBCEL-TECTA:NM_001378761:exon14:c.C2393T:p.P798L	.	0	1487	35	0	0	35	0.0116318	.	.	.	175075	Nonsyndromic_genetic_hearing_loss|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_21|TECTA-related_disorder|not_specified	MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|.|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.037	0.00443175879126	0.0018	0.00319489	0.0016	0.0063	0.0005	0	0	0.0001	0.0011	0.0069	0.0014359	222	154602	rs35107075	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0065	0.0062	0.0073	0.0004	0	5.038e-05	0	0.0042	0.0001	0.0010	0.0068	0.0020	0.0020	0.0019	0.0020	0.0058	0.0018	0.0017	0.0052	0.0049	0.0057	0	0.0009	0	0.0002	0	0	0.0002	0.0014	0.0058	0.406	0.10278	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000378	0.45194	D	0.154504	0.984513	0.40156	D	-0.14	0.04484	N	1.44	0.32722	T	0.95	0.01509	N	0.153	0.17553	-1.0500	0.14397	T	0.021	0.08686	T	10	0.0061345994	0.00138	T	0.004432	0.10844	T	0.037	0.09474	.	.	0.566408210792	0.56305	0.6636127240282215	0.66298	0.329196991579	0.35027	0.455033898354	0.32631	T	0.107384	0.41954	T	-0.575478	0.00205	T	-0.595546	0.13189	T	0.0136952726637087	0.00256	T	0.868613	0.57103	D	0.09204862	0.21584	0.08078832	0.18306	0.08642652	0.20087	0.07269823	0.15714	-4.373	0.29188	T	0.1179829029188339	0.10836	0.080	0.07554	B	.;.;.	.;.;.	2.915882	0.38697	20.8	0.92247705218224607	0.21627	0.64403	0.32396	D	AEFDBI	0.156828	0.28225	N	-0.426913657348428	0.24530	1.325126	-0.16779340760244	0.32730	1.864961	0.559409258971178	0.21401	0.553676	0.25195	0	0.59043	0.45803	0	0.624306	0.44879	0	0.620846	0.47308	0	.	.	5.02	5.02	0.66742	1.957000	0.40017	4.859000	0.45451	0.598000	0.34611	0.934000	0.32416	1.000000	0.68203	0.995000	0.73285	0.0:0.8739:0.0:0.1261	10.059	0.41434	783	0.47268	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	0	0	1	0	0.004532	0.005051	0.001359	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	2924.33	33	chr11	121125534	.	C	T	2924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=828;ExcessHet=0;FS=1.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.559;SOR=0.603	GT:AD:DP:GQ:PL	0/1:88,99:187:99:2938,0,2392	18	0	1	0
chr11	124649653	124649653	G	A	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon5:c.C688T:p.R230W,SIAE:NM_001199922:exon7:c.C583T:p.R195W	.	.	.	.	.	.	.	.	.	.	.	1009571	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.841	0.350217127194	.	0.000199681	0.0004	9.61e-05	0.0003	0	0	0.0003	0.0011	0.0015	0.0003363	52	154602	rs200862001	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	5.974e-05	0.0002	0.0022	5.038e-05	0	0.0007	9.892e-05	0.0003	0.0018	0.0002	0.0003	0.0003	0.0002	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0001	0.0035	0	0	0	0.0002	0.0009	0.0021	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.999186	0.46274	D	3.095	0.87515	M	-3.52	0.94729	D	-4.89	0.81431	D	0.947	0.96302	0.910	0.95819	D	0.890	0.96351	D	10	0.7243194	0.73871	D	0.350217	0.92248	D	0.841	0.95026	.	.	0.858440187312	0.85707	0.7544206466585838	0.75389	0.617627004066	0.56194	0.441908359528	0.30839	T	0.824583	0.95747	D	0.161506	0.70341	D	0.429136	0.93024	D	0.25204958524322	0.22964	T	0.950105	0.81346	D	0.7610418	0.81514	0.7350202	0.84339	0.8135956	0.84793	0.8041965	0.88534	-7.422	0.57059	T	.	.	0.125	0.41723	B	.;.;.	.;.;.	4.343371	0.66645	25.0	0.99858662302072121	0.93729	0.50324	0.28636	D	AEFI	0.234032	0.35685	N	0.116106140688419	0.47215	2.950267	-0.0224389338990331	0.38703	2.284085	1.41788050464432E-4	0.05573	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.22	1.53	0.22224	1.247000	0.32417	.	.	-0.140000	0.12423	0.885000	0.31090	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.4472:0.5528	13.076	0.58502	605	0.67457	Sialate O-acetylesterase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	999.33	33	chr11	124649653	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=722;ExcessHet=0;FS=3.003;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-2.243;SOR=0.42	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1013,0,966	18	0	1	0
chr12	1799683	1799683	A	G	exonic	CACNA2D4	.	nonsynonymous SNV	CACNA2D4:NM_172364:exon34:c.T2987C:p.F996S	Retinal cone dystrophy 4, Autosomal recessive	0	1498	23	1	0	25	0.00827541	.	.	.	102429	not_provided|not_specified|Retinal_cone_dystrophy_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012507,MedGen:C1864849,OMIM:610478,Orphanet:1872	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	.	0.0047	0.00319489	0.0086	0.0022	0.0111	0	0.0071	0.0148	0.0039	0.0010	0.0040103	620	154602	rs55971855	0.0071	0.0070	0.0072	0.0070	0.0159	0.0070	0.0069	0.0132	0.0123	0.0014	0.0043	0.0164	2.693e-05	0.0023	0.0159	0.0080	0.0077	0.0012	0.0051	0.0052	0.0056	0.0047	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0099	0.0070	0.0104	0	0.0013	0.0068	0.0079	0.0043	0.0012	0.393	0.43085	T	0.041	0.51421	D	0.932	0.51990	P	0.454	0.46241	P	0.056727	0.22536	N	0.413288	0.96892	0.38693	D	1.905	0.50856	L	0.68	0.51952	T	-1.69	0.40274	N	0.488	0.53708	-0.9739	0.36366	T	0.093	0.35444	T	10	0.00739339	0.00168	T	.	.	.	0.182	0.45420	.	.	0.328222422547	0.32431	0.5544732547644405	0.55374	0.256247635266	0.28199	0.623978853226	0.56291	T	0.039004	0.25040	T	-0.282785	0.10376	T	-0.169582	0.57480	T	0.0163467810838932	0.00404	T	.	.	.	0.20095675	0.42089	0.2381343	0.49128	0.19285451	0.40971	0.2241726	0.47319	-0.975	0.01026	T	.	.	0.388	0.63162	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.692406	0.75201	26.3	0.9838928252101633	0.40936	0.93528	0.58462	D	AEFGBI	0.788805	0.71818	D	-0.0498503328821455	0.39610	2.338573	-0.027881822667088	0.38460	2.266273	0.99993265390054	0.46732	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.08	4.08	0.46880	6.215000	0.72150	10.955000	0.84425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	12.063	0.52870	818	0.41518	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012601	0.005051	0.024457	0.002924	0.000000	0.017241	0.006135	0.000000	0.05263	2155.83	40	chr12	1799683	.	A	G	2155.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.267;DP=775;ExcessHet=0.119;FS=1.143;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.24;SOR=0.812	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1076,0,1381	17	0	2	0
chr12	2677831	2677831	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5079C:p.E1693D,CACNA1C:NM_001129838:exon40:c.G5079C:p.E1693D,CACNA1C:NM_001129839:exon40:c.G5073C:p.E1691D,CACNA1C:NM_001129846:exon40:c.G5022C:p.E1674D,CACNA1C:NM_001167625:exon40:c.G5022C:p.E1674D,CACNA1C:NM_000719:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129829:exon41:c.G5178C:p.E1726D,CACNA1C:NM_001129830:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129833:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129834:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129835:exon41:c.G5112C:p.E1704D,CACNA1C:NM_001129836:exon41:c.G5106C:p.E1702D,CACNA1C:NM_001129840:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129841:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129842:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129843:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129844:exon41:c.G5046C:p.E1682D,CACNA1C:NM_001167623:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001167624:exon41:c.G5055C:p.E1685D,CACNA1C:NM_001129831:exon42:c.G5139C:p.E1713D,CACNA1C:NM_001129832:exon42:c.G5115C:p.E1705D,CACNA1C:NM_001129827:exon43:c.G5199C:p.E1733D,CACNA1C:NM_199460:exon43:c.G5199C:p.E1733D	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.0984370134189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.40573	T	0.062	0.52389	T	0.808	0.63424	P	0.275	0.74454	B	0.957208	0.08248	N	0.976724	0.999467	0.47157	D	2.315	0.66250	M	-4.09	0.96772	D	-1.94	0.45042	N	0.485	0.56748	0.719	0.93405	D	0.898	0.96605	D	10	0.30664805	0.48173	T	0.098437	0.76941	D	0.516	0.79340	0.341	0.33302	0.854859035509	0.85346	0.6617621861880766	0.66113	0.178138410409	0.20040	0.75000667572	0.74447	T	0.010745	0.22062	T	0.187027	0.72690	D	0.0308744	0.72336	D	0.197412386536598	0.20272	T	.	.	.	.	.	.	.	.	.	.	.	-7.769	0.59485	D	.	.	0.322	0.62271	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.174263	0.43060	21.7	0.99057970756030855	0.51413	0.94609	0.61725	D	AEFBI	0.641712	0.61894	D	0.0269888870314487	0.43085	2.608398	0.0573250786890299	0.42425	2.56599	0.0455334280670845	0.14656	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	3.64	0.40864	1.574000	0.36091	1.450000	0.26598	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1963:0.0:0.8037:0.0	6.835	0.23115	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	272.2	35	chr12	2677831	.	G	C	272.2	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-4.342;DP=2053;ExcessHet=0.119;FS=186.334;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.59;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,28:163:99:0|1:2677831_G_C:128,0,4413:2677831	12	0	2	5
chr12	2677832	2677832	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5080C:p.A1694P,CACNA1C:NM_001129838:exon40:c.G5080C:p.A1694P,CACNA1C:NM_001129839:exon40:c.G5074C:p.A1692P,CACNA1C:NM_001129846:exon40:c.G5023C:p.A1675P,CACNA1C:NM_001167625:exon40:c.G5023C:p.A1675P,CACNA1C:NM_000719:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129829:exon41:c.G5179C:p.A1727P,CACNA1C:NM_001129830:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129833:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129834:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129835:exon41:c.G5113C:p.A1705P,CACNA1C:NM_001129836:exon41:c.G5107C:p.A1703P,CACNA1C:NM_001129840:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129841:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129842:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129843:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129844:exon41:c.G5047C:p.A1683P,CACNA1C:NM_001167623:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001167624:exon41:c.G5056C:p.A1686P,CACNA1C:NM_001129831:exon42:c.G5140C:p.A1714P,CACNA1C:NM_001129832:exon42:c.G5116C:p.A1706P,CACNA1C:NM_001129827:exon43:c.G5200C:p.A1734P,CACNA1C:NM_199460:exon43:c.G5200C:p.A1734P	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.168125990135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27904	T	0.324	0.19016	T	0.001	0.53992	B	0.004	0.55764	B	0.955475	0.08259	N	0.975185	0.99874	0.45372	D	0.51	0.13489	N	-3.91	0.96277	D	-1.11	0.33798	N	0.194	0.30233	0.566	0.91455	D	0.862	0.95418	D	10	0.1827906	0.33575	T	0.168126	0.84631	D	0.312	0.63375	0.359	0.36222	0.526448013984	0.52292	0.8296726985909174	0.82925	0.247068042511	0.27244	0.755146980286	0.75208	T	0.009692	0.20449	T	0.0676861	0.60565	T	-0.14055	0.60069	T	0.401444281778735	0.28996	T	.	.	.	.	.	.	.	.	.	.	.	-12.063	0.87069	D	.	.	0.947	0.89314	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.226746	0.63974	24.6	0.97515105936428548	0.34373	0.94381	0.60984	D	AEFBI	0.849904	0.76673	D	-0.213977285304823	0.32560	1.837526	-0.0751978937003241	0.36420	2.119189	0.803149056102645	0.24221	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	4.245000	0.58529	9.742000	0.81438	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.639	0.88034	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	268.58	35	chr12	2677832	.	G	C	268.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.428;DP=1562;ExcessHet=0.119;FS=186.334;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.58;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,28:163:99:0|1:2677831_G_C:128,0,4413:2677831	16	0	2	1
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,32:95:99:.:.:113,0,856:.	5	0	14	0
chr12	6540550	6540550	G	A	exonic	IFFO1	.	nonsynonymous SNV	IFFO1:NM_001330324:exon9:c.C1613T:p.P538L,IFFO1:NM_001039670:exon10:c.C1625T:p.P542L,IFFO1:NM_001193457:exon10:c.C1649T:p.P550L,IFFO1:NM_001330325:exon10:c.C1619T:p.P540L,IFFO1:NM_080730:exon10:c.C1622T:p.P541L	.	416	1069	35	2	0	39	0.0179146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0133974944623	0.0035	0.00199681	0.0035	0.0012	0.0026	0	0.0022	0.0042	0.0045	0.0048	0.0030271	468	154602	rs139792267	0.0024	0.0024	0.0022	0.0026	0.0257	0.0024	0.0023	0.0223	0.0210	0.0011	0.0028	0.0213	0	0.0015	0.0257	0.0018	0.0047	0.0039	0.0024	0.0024	0.0025	0.0023	0.0029	0.0022	0.0021	0.0019	0.0018	0.0008	0	0.0024	0.0239	0	0.0022	0.0272	0.0022	0.0085	0.0029	0.013	0.53900	D	0.067	0.44501	T	0.001	0.07471	B	0.001	0.04355	B	0.887219	0.08713	N	0.946895	0.986481	0.40439	D	0	0.06538	N	-2.57	0.90332	D	-0.93	0.25118	N	0.226	0.27673	-1.0969	0.04487	T	0.047	0.19998	T	10	0.005678326	0.00126	T	0.013397	0.32774	T	0.138	0.37187	.	.	0.751694653358	0.74944	0.7574403315536291	0.75692	0.545570971901	0.51584	0.456590890884	0.32844	T	0.018523	0.14916	T	-0.278165	0.10863	T	-0.172349	0.57228	T	0.0236246190789405	0.01098	T	0.808019	0.47619	T	0.05590625	0.10929	0.056011453	0.09932	0.05590625	0.10928	0.056011453	0.09931	-4.361	0.29023	T	.	.	0.072	0.07841	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.094287	0.60998	24.3	0.99615930279789366	0.75112	0.32711	0.24652	N	ALL	0.621563	0.60621	D	0.034920992093561	0.43451	2.637636	0.0985941487877732	0.44478	2.72883	0.999999999989447	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.594344	0.31042	0	0.591603	0.36755	0	.	.	3.98	3.09	0.34677	4.472000	0.59921	6.748000	0.56502	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0885:0.0:0.9115:0.0	11.148	0.47667	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	0.022659	0.015152	0.027174	0.023392	0.000000	0.008621	0.021341	0.011364	0.02632	931.33	34	chr12	6540550	.	G	A	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.541;DP=685;ExcessHet=0;FS=3.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.884;SOR=0.474	GT:AD:DP:GQ:PL	0/1:27,37:64:99:945,0,609	18	0	1	0
chr12	9079271	9079271	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon24:c.G2642A:p.R881Q,A2M:NM_000014:exon25:c.G3092A:p.R1031Q,A2M:NM_001347424:exon25:c.G2792A:p.R931Q,A2M:NM_001347423:exon26:c.G3092A:p.R1031Q	Alpha-2-macroglobulin deficiency, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	729752	not_provided|A2M-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.00770035411579	0.0005	0.000199681	0.0006	0.0002	0.0005	0.0002	0	0.0009	0	0.0005	0.0005757	89	154602	rs202210880	0.0005	0.0005	0.0005	0.0005	0.0054	0.0005	0.0005	0.0039	0.0034	5.979e-05	0.0017	0.0043	5.039e-05	5.617e-05	0.0054	0.0003	0.0010	0.0009	0.0010	0.0010	0.0009	0.0011	0.0055	0.0009	0.0008	0.0045	0.0042	9.638e-05	0	0.0055	0.0055	0	0	0.0068	0.0005	0.0009	0.0010	0.693	0.04264	T	0.298	0.20486	T	0.027	0.19556	B	0.023	0.19966	B	0.000111	0.00454	N	4.004670	1	0.08975	N	0.28	0.10031	N	1.19	0.37578	T	0.34	0.03824	N	0.144	0.14480	-1.0497	0.14481	T	0.040	0.17404	T	10	0.026189327	0.00791	T	0.008	0.20431	T	0.108	0.30607	.	.	0.511848488485	0.50826	0.06324421940860403	0.06263	0.248225803681	0.27384	0.238967508078	0.02698	T	0.056149	0.30207	T	-0.670013	0.00055	T	-0.748434	0.03547	T	0.00636074948175264	0.00071	T	0.357964	0.08163	T	0.0548956	0.10595	0.033510484	0.02258	0.0548956	0.10595	0.033510484	0.02257	-5.47	0.41587	T	.	.	0.072	0.04080	B	.	.	-0.304026	0.02599	0.322	0.67998873628121814	0.08524	0.02505	0.06995	N	AEFBI	0.305958	0.41324	N	-1.52014269640998	0.01717	0.07516623	-1.5440935339835	0.02017	0.09216362	0.609135430644223	0.21790	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.92	-4.46	0.03288	-0.735000	0.04992	-2.146000	0.04145	-2.020000	0.00436	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.3367:0.2791:0.3843	5.399	0.15583	536	0.73233	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	1	0	0.003027	0.000000	0.000000	0.000000	0.000000	0.000000	0.012346	0.000000	0.02632	1439.33	33	chr12	9079271	.	C	T	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.311;SOR=0.724	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1453,0,1447	18	0	1	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M,KLRF1:NM_001291823:exon2:c.G139A:p.V47M,KLRF1:NM_001366534:exon2:c.G139A:p.V47M,KLRF1:NM_016523:exon2:c.G139A:p.V47M	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00738818	0.0077	0.0007	0.0068	0	0.0005	0.0049	0.0078	0.0301	0.0068175	1054	154602	rs146460124	0.0046	0.0047	0.0036	0.0056	0.0321	0.0045	0.0045	0.0311	0.0307	0.0007	0.0060	0.0077	7.582e-05	0.0003	0.0205	0.0027	0.0055	0.0321	0.0039	0.0039	0.0036	0.0042	0.0327	0.0036	0.0035	0.0285	0.0270	0.0009	0.0011	0.0060	0.0081	0.0002	0.0004	0.0102	0.0038	0.0057	0.0327	0.175	0.25768	T	0.191	0.49120	T	0.113	0.26349	B	0.033	0.22329	B	0.722462	0.06322	N	1.214770	1	0.08975	N	0.805	0.20218	L	0.4	0.57261	T	-1.72	0.40850	N	0.161	0.22228	-1.0634	0.10926	T	0.059	0.24612	T	9	0.0059431195	0.00133	T	.	.	.	0.025	0.05312	.	.	0.171388866994	0.16791	0.2775677312493388	0.27669	.	.	0.29831263423	0.10151	T	0.02985	0.21296	T	-0.585658	0.00178	T	-0.591036	0.13576	T	0.000816321794284554	0.00008	T	0.69743	0.30707	T	.	.	.	.	.	.	.	.	-4.949	0.36281	T	.	.	0.098	0.20038	B	.;.;.;.;.	.;.;.;.;.	0.062193	0.04727	1.359	0.08633522959055194	0.00071	0.00566	0.02572	N	AEFBI	0.044400	0.07140	N	-1.68846938339769	0.00883	0.03823578	-1.7559330760471	0.00911	0.04075757	6.07512311615335E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.04	-2.27	0.06458	-0.693000	0.05222	-0.056000	0.12484	-1.591000	0.00906	0.003000	0.16062	0.005000	0.19230	0.025000	0.12405	0.296:0.2805:0.4235:0.0	5.229	0.14730	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	0.024194	0.010101	0.017663	0.020468	0.000000	0.025862	0.033742	0.034091	0.07895	2308.79	33	chr12	9832369	.	G	A	2308.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.118;DP=759;ExcessHet=0.3672;FS=1.085;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.652;SOR=0.793	GT:AD:DP:GQ:PL	0/1:37,35:72:99:768,0,834	16	0	3	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/1:61,19:80:99:456,0,1927	11	0	8	0
chr12	18320998	18320998	C	G	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_001288772:exon7:c.C1174G:p.L392V,PIK3C2G:NM_001288774:exon7:c.C508G:p.L170V,PIK3C2G:NM_004570:exon7:c.C1174G:p.L392V	.	451	1049	18	4	0	26	0.0122411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	.	0.0004	0.00339457	0.0021	0.0003	0.0014	0	0	0.0011	0.0067	0.0090	0.0014359	222	154602	rs189270710	0.0009	0.0010	0.0006	0.0012	0.0111	0.0009	0.0009	0.0087	0.0078	0.0002	0.0007	7.805e-05	2.543e-05	0	0.0111	0.0005	0.0014	0.0072	0.0007	0.0007	0.0007	0.0008	0.0070	0.0006	0.0006	0.0052	0.0045	7.215e-05	0	0.0008	0	0	0	0.0204	0.0008	0	0.0070	0.016	0.51853	D	0.0	0.92824	D	0.995	0.67487	D	0.91	0.64641	D	0.000071	0.52346	D	0.000000	0.916993	0.36567	D	2.765	0.80766	M	1.16	0.64818	T	-1.62	0.38924	N	0.544	0.61933	-0.5150	0.68102	T	0.269	0.64098	T	10	0.0085992515	0.00195	T	.	.	.	0.201	0.48592	.	.	0.599340405529	0.59615	0.05888512238855398	0.05829	0.0159091030444	0.01523	0.499150782824	0.38709	T	0.039857	0.31336	T	-0.358409	0.04220	T	-0.28388	0.46406	T	0.0678820302665808	0.08351	T	0.782222	0.43226	T	0.1457468	0.33396	0.15658617	0.36654	0.1457468	0.33396	0.15658617	0.36653	-3.756	0.20149	T	.	.	0.175	0.38390	B	.;.;.;.	.;.;.;.	3.674660	0.52277	23.2	0.99835386737957632	0.91628	0.85627	0.44780	D	AEFBI	0.350359	0.44383	N	0.54592368012716	0.69835	5.413695	0.526110385088951	0.69752	5.40554	0.977723633779124	0.29849	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	2.405000	0.44201	2.756000	0.34570	-0.190000	0.09434	1.000000	0.71638	0.994000	0.32194	0.996000	0.76049	0.0:1.0:0.0:0.0	13.171	0.59021	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.000000	0.006793	0.005848	0.000000	0.000000	0.018293	0.015152	0.02632	488.33	35	chr12	18320998	.	C	G	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.386;DP=703;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-0.804;SOR=0.542	GT:AD:DP:GQ:PL	0/1:38,23:61:99:502,0,943	18	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,38:70:99:.:.:443,0,272:.	2	0	16	1
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	447.66	61	chr12	39764778	.	G	A	447.66	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.948;DP=1036;ExcessHet=0.7564;FS=304.398;InbreedingCoeff=-0.1414;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.14;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,18:69:1:.:.:1,0,1035:.	14	0	4	1
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1071.79	1334	chr12	40487422	.	A	ACC	1071.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.696;DP=19757;ExcessHet=0.119;FS=15.134;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.95;MQRankSum=-27.76;QD=0.52;ReadPosRankSum=3.63;SOR=2.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:865,76:941:99:0|1:40487405_G_C:588,0,35849:40487405	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:854,111:965:99:0|1:40487405_G_C:2090,0,35466:40487405	8	0	11	0
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3607.79	1391	chr12	40487442	.	G	GGCT	3607.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.356;DP=20382;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.28;MQRankSum=-28.47;QD=1.77;ReadPosRankSum=0.909;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:803,109:912:99:0|1:40487405_G_C:2067,0,33160:40487405	17	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:796,107:903:99:0|1:40487405_G_C:2000,0,32876:40487405	11	0	8	0
chr12	41573505	41573505	G	T	exonic	PDZRN4	.	nonsynonymous SNV	PDZRN4:NM_013377:exon8:c.G1952T:p.R651L,PDZRN4:NM_001164595:exon10:c.G2726T:p.R909L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0272032187023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.959	0.62325	D	0.621	0.67021	P	0.000120	0.50451	D	0.081704	0.999966	0.52935	D	2.44	0.70756	M	0.85	0.47130	T	-5.76	0.89871	D	0.533	0.70790	-0.5739	0.65860	T	0.268	0.63897	T	10	0.67680347	0.71040	D	0.027203	0.50036	D	0.240	0.54500	0.424	0.46857	0.789849054134	0.78790	0.35685984664631104	0.35599	0.548449671167	0.51785	0.706968963146	0.68154	T	0.206056	0.56528	T	-0.0217891	0.48597	T	-0.269075	0.47912	T	0.996186196804047	0.88832	D	0.989701	0.96679	D	0.6019628	0.72796	0.58931303	0.76174	0.6019628	0.72797	0.58931303	0.76175	-12.886	0.88888	D	.	.	0.658	0.71241	P	.;.;.;.	.;.;.;.	4.711053	0.75686	26.4	0.99811529912975494	0.89531	0.96760	0.70792	D	AEFBI	0.785465	0.71584	D	0.701956432343782	0.79761	7.146348	0.680455298596931	0.80896	7.402071	0.220376603591332	0.18348	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	5.453000	0.66386	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.074:0.0:0.926:0.0	13.220	0.59305	789	0.46346	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2104.33	33	chr12	41573505	.	G	T	2104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=824;ExcessHet=0;FS=4.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.549;SOR=0.392	GT:AD:DP:GQ:PL	0/1:75,71:146:99:2118,0,1902	18	0	1	0
chr12	47078725	47078725	G	A	exonic	AMIGO2	.	nonsynonymous SNV	AMIGO2:NM_181847:exon2:c.C278T:p.A93V,AMIGO2:NM_001143668:exon3:c.C278T:p.A93V,AMIGO2:NM_001370299:exon3:c.C278T:p.A93V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00329339175713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.297	0.20551	T	0.0	0.02946	B	0.0	0.01387	B	0.143263	0.02902	N	1.757900	1	0.08975	N	1.16	0.29674	L	4.35	0.02319	T	-0.58	0.17417	N	0.023	0.00571	-0.9197	0.45594	T	0.005	0.01833	T	10	0.0357289	0.01836	T	0.003293	0.07298	T	0.011	0.01250	0.443	0.49975	0.193917141947	0.19028	0.19532729245791014	0.19449	0.399366746743	0.40966	0.258934676647	0.04765	T	0.032971	0.22716	T	-0.37618	0.03293	T	-0.778133	0.02510	T	0.0633139386773109	0.07679	T	0.617538	0.23656	T	0.044194277	0.07020	0.033464987	0.02245	0.044194277	0.07020	0.033464987	0.02245	-3.39	0.14922	T	.	.	0.062	0.01600	B	.;.;.	.;.;.	0.885840	0.12589	9.119	0.83802129767418909	0.14928	0.05536	0.11429	N	AEFDGBCI	0.058539	0.10990	N	-1.30224784531831	0.03650	0.1634149	-1.35820744237327	0.03710	0.1736191	0.999999943040771	0.74766	0.660085	0.49399	0	0.563428	0.19063	0	0.673471	0.61138	0	0.651492	0.60203	0	.	.	3.94	-2.65	0.05739	0.204000	0.17133	1.783000	0.28733	-0.116000	0.14526	0.000000	0.06391	0.001000	0.17328	0.536000	0.29845	0.2607:0.1381:0.3886:0.2126	1.662	0.02626	648	0.63242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1796.33	43	chr12	47078725	.	G	A	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=872;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.734;SOR=0.754	GT:AD:DP:GQ:PL	0/1:113,70:183:99:1810,0,2975	18	0	1	0
chr12	50686627	50686627	C	T	exonic	DIP2B	.	nonsynonymous SNV	DIP2B:NM_173602:exon12:c.C1496T:p.P499L	Mental retardation, FRA12A type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0123509978257	.	.	5.816e-05	0	0	0	0	3.015e-05	0	0.0003	5.17e-05	8	154602	rs780930249	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0001	1.456e-05	1.264e-05	7.998e-05	6.236e-05	0	0	0	5.038e-05	0	0	1.169e-05	4.968e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.724	0.42429	P	0.289	0.40655	B	0.000000	0.84330	D	0.054140	1	0.81001	D	1.845	0.48678	L	0.91	0.44856	T	-7.79	0.95897	D	0.517	0.54757	-0.8765	0.50036	T	0.122	0.42441	T	10	0.28218013	0.45796	T	0.012351	0.30844	T	0.223	0.52023	.	.	0.0675242888579	0.06100	0.5684852823308566	0.56776	1.02148003621	0.75139	0.613869905472	0.54863	T	0.20692	0.56641	T	-0.264811	0.12342	T	-0.326011	0.41911	T	0.532325207709958	0.33820	D	0.992401	0.97558	D	0.6580543	0.75795	0.60004085	0.76765	0.6580543	0.75796	0.60004085	0.76766	-8.345	0.63398	D	.	.	0.172	0.37820	B	.	.	4.486783	0.70057	25.5	0.99614183365198727	0.74992	0.98403	0.82420	D	AEFDBI	0.840232	0.75755	D	0.428528200564618	0.62996	4.525161	0.481186003707094	0.66746	4.992142	0.999999993854411	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.56	4.56	0.55644	7.834000	0.84963	7.675000	0.64997	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	17.874	0.88735	225	0.91282	AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	33	chr12	50686627	.	C	T	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=1.19;SOR=0.681	GT:AD:DP:GQ:PL	0/1:50,29:79:99:712,0,1126	18	0	1	0
chr12	54962733	54962733	G	A	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.C538T:p.P180S,TESPA1:NM_001351148:exon7:c.C751T:p.P251S,TESPA1:NM_001351151:exon7:c.C406T:p.P136S,TESPA1:NM_001351152:exon7:c.C406T:p.P136S,TESPA1:NM_001351153:exon7:c.C406T:p.P136S,TESPA1:NM_001351154:exon7:c.C406T:p.P136S,TESPA1:NM_001351155:exon7:c.C406T:p.P136S,TESPA1:NM_014796:exon7:c.C751T:p.P251S,TESPA1:NM_001261844:exon8:c.C751T:p.P251S,TESPA1:NM_001098815:exon9:c.C1165T:p.P389S,TESPA1:NM_001136030:exon9:c.C1165T:p.P389S,TESPA1:NM_001351149:exon10:c.C1165T:p.P389S	.	435	1023	60	4	0	68	0.0321665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.00479233	0.0060	0.0008	0.0034	0.0001	0.0006	0.0064	0.0056	0.0143	0.0054204	838	154602	rs79969168	0.0050	0.0050	0.0047	0.0054	0.0206	0.0049	0.0049	0.0176	0.0165	0.0005	0.0056	0.0219	5.038e-05	0.0005	0.0206	0.0043	0.0062	0.0139	0.0041	0.0041	0.0040	0.0042	0.0130	0.0038	0.0037	0.0105	0.0095	0.0008	0	0.0088	0.0205	0.0002	0.0002	0.0514	0.0042	0.0076	0.0130	0.108	0.29420	T	0.115	0.39040	T	0.009	0.15093	B	0.007	0.12992	B	0.884550	0.08731	N	0.941133	1	0.08975	N	1.3	0.32576	L	1.01	0.41058	T	-0.43	0.14390	N	0.089	0.08786	-1.0110	0.26604	T	0.047	0.20195	T	10	0.005149156	0.00112	T	.	.	.	0.057	0.16321	.	.	0.134241683229	0.13084	0.11741497963002354	0.11669	0.156741707563	0.17697	0.22092320025	0.01364	T	0.00258	0.01974	T	-0.646041	0.00077	T	-0.689738	0.06404	T	0.00151438580155197	0.00015	T	0.512349	0.16405	T	0.017450266	0.00273	0.025835352	0.00643	0.017450266	0.00273	0.025835352	0.00643	-3.329	0.14113	T	.	.	0.081	0.11893	B	.;.;.;.;.	.;.;.;.;.	-0.185425	0.03167	0.516	0.71880267870492953	0.09780	0.02568	0.07109	N	AEFBI	0.073802	0.14774	N	-0.917725297604605	0.10427	0.498243	-0.956001895449828	0.10783	0.5453844	0.126746297919489	0.17006	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.37	1.32	0.20897	-0.500000	0.06487	0.844000	0.22071	0.676000	0.76740	0.000000	0.06391	0.031000	0.21272	0.012000	0.09680	0.2879:0.0:0.4565:0.2556	2.444	0.04227	783	0.47268	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.005051	0.016304	0.011696	0.000000	0.017241	0.027439	0.026515	0.07895	5584.79	35	chr12	54962733	.	G	A	5584.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.971;DP=1038;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.193;SOR=0.706	GT:AD:DP:GQ:PL	0/1:69,73:142:99:1903,0,1709	16	0	3	0
chr12	56095676	56095676	T	C	exonic	ERBB3	.	nonsynonymous SNV	ERBB3:NM_001982:exon17:c.T1925C:p.L642P	Lethal congenital contractural syndrome 2, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0399476226714	7.7e-05	.	3.295e-05	0	0	0	0	4.495e-05	0.0011	0	3.88e-05	6	154602	rs371005132	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0007	1.674e-05	1.477e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	2.338e-05	3.311e-05	1.159e-05	2.628e-05	2.627e-05	1.284e-05	4.033e-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	0.297	0.14645	T	0.147	0.35582	T	0.393	0.34680	B	0.081	0.28987	B	0.897593	0.08644	N	0.946865	0.999996	0.81001	D	-0.42	0.02904	N	-1.27	0.79277	T	1.19	0.01121	N	0.7	0.70439	-0.9849	0.33856	T	0.135	0.45049	T	10	0.18788236	0.34319	T	0.039948	0.59099	D	0.381	0.69863	.	.	0.812937831155	0.81118	0.8887253318426831	0.88841	0.527645820895	0.50370	0.450555771589	0.32020	T	0.356443	0.72329	T	-0.0424577	0.45583	T	-0.191107	0.55486	T	0.0594436563551426	0.07080	T	0.555444	0.19245	T	0.2679759	0.49870	0.11884313	0.28685	0.2679759	0.49870	0.11884313	0.28684	-6.431	0.49751	T	0.04947689789597957	0.00813	0.146	0.60820	B	.;.;.	.;.;.	3.122584	0.42162	21.5	0.97079033404623527	0.32272	0.84473	0.43555	D	AEFBI	0.364900	0.45327	N	-0.432719006090398	0.24329	1.312916	-0.199303346240622	0.31562	1.787385	0.999012447866335	0.38212	0.744818	0.98587	0	0.59043	0.45803	0	0.732433	0.93434	0	0.63947	0.58350	0	.	.	5.1	3.96	0.45097	2.058000	0.41001	6.180000	0.54618	0.660000	0.55035	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.0:0.1864:0.0:0.8136	6.392	0.20792	451	0.79296	.;.;Tyrosine-protein kinase, catalytic 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1177.33	34	chr12	56095676	.	T	C	1177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.301;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.035;SOR=0.765	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1191,0,1513	18	0	1	0
chr12	57003620	57003620	T	C	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.A1298G:p.N433S	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00389466038388	0.0002	0.000199681	4.948e-05	0.0002	0.0002	0.0001	0	1.501e-05	0	0	4.53e-05	7	154602	rs191096404	7.525e-06	7.524e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0.0002	4.497e-06	1.656e-05	0	5.252e-05	5.249e-05	7.708e-05	2.685e-05	0.0002	2.555e-05	1.829e-05	6.268e-05	4.29e-05	0.0001	0	0	0	0.0002	0	0	1.47e-05	0	0	0.566	0.06262	T	0.897	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.059987	0.22282	N	0.428363	1	0.08975	N	0.265	0.09922	N	3.17	0.07599	T	0.68	0.02228	N	0.108	0.09349	-0.9820	0.34538	T	0.011	0.04134	T	10	0.015002221	0.00315	T	0.003895	0.09148	T	0.094	0.27141	.	.	0.183819452728	0.17975	0.10898769869296082	0.10827	0.100410451016	0.11348	0.319345384836	0.13322	T	0.003456	0.02859	T	-0.59447	0.00158	T	-0.812257	0.01615	T	0.00466936722820106	0.00050	T	0.728227	0.34274	T	0.027366979	0.01919	0.028125983	0.01021	0.027366979	0.01918	0.028125983	0.01021	-2.473	0.05600	T	.	.	0.079	0.07272	B	.	.	0.249319	0.06286	2.744	0.24900164664728128	0.01123	0.18801	0.20408	N	AEFBI	0.073152	0.14623	N	-1.13873422313349	0.05967	0.273478	-1.12736914898678	0.07180	0.3483301	0.99575072272467	0.34306	0.67177	0.52595	0	0.615513	0.52658	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.7	-2.99	0.05164	0.635000	0.24318	-1.360000	0.05625	-0.120000	0.14102	0.154000	0.23713	0.000000	0.08366	0.576000	0.30797	0.0:0.5068:0.1498:0.3434	7.512	0.26748	152	0.94023	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1548.33	36	chr12	57003620	.	T	C	1548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.996;DP=739;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.531;SOR=1.042	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1562,0,1408	18	0	1	0
chr12	63560574	63560574	C	T	exonic	DPY19L2	.	nonsynonymous SNV	DPY19L2:NM_173812:exon22:c.G2215A:p.A739T	Spermatogenic failure 9, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2359304	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0159168274509	.	.	0.0002	0	8.682e-05	0	0	7.51e-05	0	0.0009	0.0001358	21	154602	rs779226004	0.0001	0.0001	6.943e-05	0.0001	0.0009	9.267e-05	8.731e-05	0.0008	0.0007	0	2.236e-05	0.0001	0	0	0	5.846e-05	0.0001	0.0009	7.89e-05	7.88e-05	5.14e-05	0.0001	0.0010	4.499e-05	3.514e-05	0.0004	0.0003	0	0	6.55e-05	0	0	0	0	8.821e-05	0	0.0010	0.037	0.43085	D	0.127	0.35082	T	0.077	0.24313	B	0.046	0.24676	B	0.013345	0.28869	N	0.384866	1	0.08975	N	2.095	0.58118	M	0.55	0.54728	T	-0.64	0.18670	N	0.037	0.01135	-1.0593	0.11931	T	0.073	0.29675	T	9	0.025743455	0.00760	T	0.015917	0.36914	T	0.022	0.04323	0.484	0.56621	0.149567049428	0.14543	0.7377296571318136	0.73717	0.175141826763	0.19720	0.368524849415	0.20620	T	0.001012	0.00548	T	-0.535398	0.00357	T	-0.592279	0.13469	T	0.0261647096391396	0.01428	T	0.582642	0.21138	T	0.03339127	0.03550	0.049045563	0.07414	0.03177287	0.03079	0.047050986	0.06693	-3.548	0.17110	T	0.13702446044002212	0.15038	0.083	0.09143	B	.	.	1.078283	0.14613	11.17	0.88826544759295412	0.18287	0.02355	0.06716	N	AEFI	0.087217	0.17685	N	-1.13326203226623	0.06060	0.2779471	-1.21308421442733	0.05699	0.2722841	1.91328333085314E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	3.0	-1.15	0.09211	-0.040000	0.12056	-0.944000	0.06837	0.288000	0.18739	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.229:0.3602:0.4107:0.0	5.214	0.14653	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1282.33	44	chr12	63560574	.	C	T	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=799;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.457;SOR=0.909	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1296,0,1308	18	0	1	0
chr12	66244572	66244572	G	A	exonic	IRAK3	.	nonsynonymous SNV	IRAK3:NM_001142523:exon8:c.G791A:p.S264N,IRAK3:NM_007199:exon9:c.G974A:p.S325N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0177233720411	.	.	3.295e-05	0	8.637e-05	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs754495502	2.805e-05	2.805e-05	2.859e-05	2.75e-05	0.0019	2.087e-05	1.878e-05	0.0011	0.0008	5.975e-05	0	0	0	0	0.0019	1.889e-05	6.624e-05	3.478e-05	1.97e-05	1.969e-05	0	4.03e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0	0.005	0.63226	D	0.069	0.43913	T	0.437	0.35811	B	0.093	0.30104	B	0.049791	0.23129	N	0.477830	1	0.08975	N	1.48	0.37141	L	-0.14	0.65006	T	-2.2	0.49519	N	0.16	0.23884	-1.0206	0.23519	T	0.121	0.42187	T	9	0.10956067	0.20442	T	0.017723	0.39529	T	0.066	0.19193	0.381	0.39807	0.787280612622	0.78530	0.2615107050651214	0.26064	0.0227418883383	0.02294	0.335206478834	0.15719	T	0.136409	0.46876	T	-0.302229	0.08451	T	-0.541457	0.18154	T	0.0460374650471422	0.04790	T	0.561544	0.19673	T	0.17914955	0.38971	0.1126124	0.27173	0.17914955	0.38971	0.1126124	0.27172	-5.076	0.37653	T	.	.	0.061	0.04477	B	.;.	.;.	0.293379	0.06695	3.201	0.90731464583626453	0.19981	0.04988	0.10760	N	AEFDGBI	0.040972	0.06167	N	-0.898960386173715	0.10867	0.5214604	-0.983526788227398	0.10154	0.5096732	0.988598685297875	0.31567	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.64	-0.617	0.10999	0.169000	0.16457	0.475000	0.18750	-0.118000	0.14412	0.234000	0.24685	0.018000	0.20648	0.048000	0.15020	0.3144:0.1359:0.4099:0.1398	1.368	0.02073	725	0.54935	Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1318.33	43	chr12	66244572	.	G	A	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.395;DP=752;ExcessHet=0;FS=1.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.009;SOR=0.941	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1332,0,1358	18	0	1	0
chr12	68302649	68302649	G	A	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon11:c.C1103T:p.S368F,MDM1:NM_001205028:exon12:c.C1838T:p.S613F,MDM1:NM_001354970:exon12:c.C1823T:p.S608F,MDM1:NM_001368282:exon12:c.C1133T:p.S378F,MDM1:NM_017440:exon12:c.C1943T:p.S648F,MDM1:NM_001354969:exon13:c.C1973T:p.S658F,MDM1:NM_001354972:exon13:c.C1133T:p.S378F,MDM1:NM_001354973:exon13:c.C1133T:p.S378F,MDM1:NM_001354971:exon14:c.C1133T:p.S378F	.	424	1092	5	1	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0157722164338	0.0003	.	0.0003	0	8.737e-05	0	0	0.0001	0	0.0013	0.0002005	31	154602	rs146977411	0.0001	0.0001	5.855e-05	0.0002	0.0016	9.404e-05	8.886e-05	0.0009	0.0009	0	6.713e-05	0	0	0	0.0016	3.688e-05	0.0001	0.0011	0.0001	0.0001	9e-05	0.0002	0.0010	8.17e-05	6.725e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0	0.0001	0.0009	0.0010	0.009	0.58626	D	0.008	0.69154	D	0.94	0.52768	P	0.646	0.52296	P	0.190747	0.16853	N	0.611279	0.984611	0.24785	N	2.3	0.65703	M	2.17	0.19020	T	-2.31	0.72594	N	0.478	0.53445	-1.0346	0.18983	T	0.099	0.36907	T	9	0.05403754	0.05690	T	0.015772	0.36685	T	0.105	0.29889	.	.	0.366085729538	0.36220	0.2512834535264631	0.25042	0.31362189538	0.33653	0.348569601774	0.17711	T	0.387412	0.74833	T	-0.409944	0.01989	T	-0.407185	0.32549	T	0.385708689689636	0.28401	T	0.887811	0.73561	D	0.097871825	0.23077	0.16010335	0.37307	0.097871825	0.23077	0.16010335	0.37306	-4.333	0.31032	T	.	.	0.188	0.49373	B	.;.;.	.;.;.	3.783021	0.54409	23.5	0.99783655569506036	0.87043	0.84300	0.43382	D	AEFBI	0.275452	0.39040	N	0.26804048085253	0.54536	3.618965	0.239925150875668	0.52078	3.385186	0.0243017625577386	0.13569	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	2.87	0.32523	4.165000	0.57984	3.067000	0.36184	0.676000	0.76740	0.999000	0.42656	0.979000	0.30280	0.969000	0.54022	0.0:0.2838:0.7162:0.0	14.852	0.69934	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	747.33	33	chr12	68302649	.	G	A	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=682;ExcessHet=0;FS=3.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.396;SOR=1.392	GT:AD:DP:GQ:PL	0/1:29,26:55:99:761,0,725	18	0	1	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	247.04	57	chr12	70635944	.	G	A	247.04	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.741;DP=1270;ExcessHet=1.3;FS=174.484;InbreedingCoeff=-0.3061;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.39;SOR=10.364	GT:AD:DP:GQ:PL	0/1:62,17:79:56:56,0,1165	7	0	5	7
chr12	80673197	80673197	A	G	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon43:c.A6631G:p.I2211V	Deafness, autosomal recessive 84A, Autosomal recessive	1	1509	12	0	0	12	0.0039604	.	.	.	1240544	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.160	.	.	0.00579073	0.0022	0	0	0.0434	0	0.0005	0.0165	0.0015	0.0006533	101	154602	rs74971960	0.0014	0.0013	0.0014	0.0014	0.0440	0.0013	0.0013	0.0422	0.0415	0	0	0.0013	0.0440	6.089e-05	0.0011	0.0001	0.0019	0.0009	0.0016	0.0017	0.0012	0.0021	0.0408	0.0015	0.0014	0.0363	0.0345	0	0	0.0001	0.0003	0.0408	0.0002	0	0.0004	0.0014	0.0012	.	.	.	0.135	0.34959	T	.	.	.	.	.	.	0.000726	0.42129	D	0.000000	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.499	0.53181	-1.0693	0.09567	T	0.008	0.02801	T	9	0.009433836	0.00213	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.13262428847474858	0.13186	.	.	0.724681377411	0.70729	T	0.021961	0.17012	T	-0.237469	0.15672	T	-0.0788466	0.64989	T	0.0610855363221974	0.07338	T	0.889011	0.62583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12037	B	.;.;.	.;.;.	2.791503	0.36698	20.3	0.99455177133231376	0.65479	0.95870	0.66508	D	AEFDI	0.713929	0.66657	D	0.124054001019825	0.47587	2.982312	0.297749098050409	0.55409	3.703864	0.999853548042751	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	5.933000	0.69846	9.252000	0.79496	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8555:0.0:0.1445:0.0	8.493	0.32273	903	0.23940	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	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	0.002545	0.000000	0.000000	0.000000	0.000000	0.000000	0.005952	0.013158	0.02632	1818.33	34	chr12	80673197	.	A	G	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.31;SOR=0.638	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1832,0,1585	18	0	1	0
chr12	88153436	88153436	A	G	exonic	TMTC3	.	nonsynonymous SNV	TMTC3:NM_001366580:exon2:c.A68G:p.K23R,TMTC3:NM_001366574:exon3:c.A155G:p.K52R,TMTC3:NM_181783:exon3:c.A335G:p.K112R	Lissencephaly 8, Autosomal recessive	462	1054	5	1	0	7	0.00330969	.	.	.	738888	TMTC3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0005	0.00878594	0.0045	0	0.0007	0.0487	0.0018	0.0009	0.0044	0.0028	0.0041461	641	154602	rs77028313	0.0022	0.0022	0.0021	0.0023	0.0532	0.0022	0.0021	0.0513	0.0506	5.975e-05	0.0004	0.0018	0.0532	0.0029	0.0017	0.0004	0.0025	0.0031	0.0023	0.0023	0.0019	0.0027	0.0438	0.0021	0.0020	0.0391	0.0373	2.405e-05	0	0.0001	0.0026	0.0438	0.0024	0	0.0008	0.0019	0.0052	1.0	0.02869	T	1.0	0.02701	T	0.0	0.02946	B	0.001	0.04355	B	0.000752	0.42006	N	0.260146	0.999164	0.21555	N	-0.625	0.02162	N	-3.4	0.94260	D	0.33	0.07444	N	0.09	0.06854	-0.8048	0.54861	T	0.092	0.35228	T	10	0.002990514	0.00049	T	.	.	.	0.199	0.48268	.	.	0.705647642926	0.70308	0.3481616343772172	0.34730	0.260024050309	0.28572	0.234944283962	0.02354	T	0.00898	0.08204	T	-0.37434	0.03380	T	-0.270263	0.47792	T	0.00320166601431185	0.00034	T	0.682432	0.31245	T	.	.	.	.	.	.	.	.	-5.031	0.37175	T	.	.	0.070	0.03372	B	.;.	.;.	0.335881	0.07097	3.670	0.35796090864486929	0.02267	0.54256	0.29571	D	AEFBI	0.088983	0.18037	N	-1.30647776433319	0.03600	0.1611141	-1.12257558469173	0.07270	0.3530011	0.119053775493715	0.16837	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.89	-2.3	0.06399	1.378000	0.33935	0.844000	0.22071	-0.105000	0.15698	1.000000	0.71638	0.978000	0.30204	0.980000	0.58198	0.5524:0.0:0.4476:0.0	13.559	0.61237	859	0.33891	.;.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	1735.33	34	chr12	88153436	.	A	G	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.691;DP=774;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.11;SOR=0.818	GT:AD:DP:GQ:PL	0/1:90,75:165:99:1749,0,2319	18	0	1	0
chr12	96297646	96297646	G	A	exonic	CDK17	.	nonsynonymous SNV	CDK17:NM_001170464:exon8:c.C791T:p.T264I,CDK17:NM_002595:exon8:c.C791T:p.T264I	.	464	1057	1	0	0	1	0.000472813	.	.	.	3649396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.614	0.0244937232101	.	.	0.0002	0	8.637e-05	0.0002	0	0.0002	0	0.0007	0.0001682	26	154602	rs758304893	0.0001	0.0001	6.762e-05	0.0001	0.0009	8.682e-05	8.145e-05	0.0007	0.0007	3.034e-05	6.872e-05	0	0.0002	1.873e-05	0.0002	4.28e-05	0.0001	0.0009	8.536e-05	8.532e-05	7.71e-05	9.399e-05	0.0006	4.954e-05	3.96e-05	0.0002	8.996e-05	2.407e-05	0	0	0	0.0004	9.429e-05	0	7.352e-05	0.0005	0.0006	0.017	0.53172	D	0.026	0.57104	D	0.918	0.50838	P	0.767	0.56720	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.74	0.18910	N	-0.09	0.64086	T	-5.02	0.82575	D	0.706	0.70966	-0.5128	0.68184	T	0.296	0.66707	T	10	0.4922942	0.61063	T	0.024494	0.47488	T	0.614	0.84932	.	.	0.782191168402	0.78017	0.7302134402927744	0.72966	1.57472306996	0.88263	0.946036458015	0.99653	D	0.20419	0.56289	T	0.026492	0.55254	T	0.193791	0.82782	D	0.267226696014404	0.23628	T	0.958304	0.84304	D	0.5821033	0.71723	0.6062161	0.77106	0.5821033	0.71724	0.6062161	0.77107	-11.18	0.80636	D	.	.	0.592	0.73140	P	.;.;.	.;.;.	5.211558	0.87454	29.2	0.99870081389305465	0.94815	0.99855	0.99850	D	AEFDGBI	0.873031	0.79518	D	0.718014614944717	0.80813	7.378274	0.780329744060039	0.88393	9.565582	0.999999999999698	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.596	0.95533	768	0.49510	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	.	.	.	.	.	.	.	.	0.02632	1290.33	34	chr12	96297646	.	G	A	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=780;ExcessHet=0;FS=1.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-1.491;SOR=0.756	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1304,0,1437	18	0	1	0
chr12	103740688	103740688	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon55:c.G5813A:p.R1938Q	.	7	1508	7	0	0	7	0.00231558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	.	0.00399361	0.0014	0.0002	0.0002	0	0	1.5e-05	0	0.0102	0.0013325	206	154602	rs568993020	0.0006	0.0006	0.0004	0.0008	0.0093	0.0006	0.0006	0.0087	0.0085	9.001e-05	4.527e-05	0	0	0	0.0009	4.41e-05	0.0007	0.0093	0.0004	0.0004	0.0003	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	9.63e-05	0	0.0001	0	0	0	0	2.94e-05	0	0.0116	0.564	0.06302	T	0.669	0.06325	T	0.005	0.12996	B	0.004	0.10090	B	0.872783	0.07186	N	1.070130	1	0.08975	N	0.065	0.08236	N	-1.64	0.82533	D	-0.88	0.23808	N	0.118	0.10769	-0.7589	0.57465	T	0.242	0.61012	T	10	0.003883332	0.00074	T	.	.	.	0.159	0.41286	0.357	0.35897	0.314417295294	0.31040	0.5637519987623696	0.56302	0.0890517833807	0.10066	0.207325473428	0.00703	T	0.077043	0.35561	T	-0.53736	0.00347	T	-0.538542	0.18440	T	0.00516977169458664	0.00056	T	0.687931	0.29705	T	0.03430915	0.03825	0.058995068	0.10998	0.03430915	0.03825	0.058995068	0.10998	-2.555	0.06168	T	.	.	0.071	0.03773	B	.	.	-1.011365	0.00755	0.024	0.80818034726946142	0.13383	0.01903	0.05831	N	AEFBI	0.113279	0.22357	N	-1.82339274269418	0.00490	0.02110546	-1.86823453469405	0.00564	0.02505387	0.958685867552276	0.28378	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.46	-9.74	0.00425	-0.517000	0.06360	-2.075000	0.04251	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.583000	0.30967	0.6523:0.0:0.3477:0.0	18.652	0.91393	890	0.26919	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1390.33	40	chr12	103740688	.	G	A	1390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=751;ExcessHet=0;FS=3.644;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.153;SOR=1.061	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1404,0,1290	18	0	1	0
chr12	109259064	109259064	T	-	exonic	ACACB	.	frameshift deletion	ACACB:NM_001093:exon47:c.6452delT:p.L2151Rfs*2	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1920.29	43	chr12	109259063	.	CT	C	1920.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.219;DP=849;ExcessHet=0;FS=2.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.625;SOR=0.512	GT:AD:DP:GQ:PL	0/1:81,59:140:99:1934,0,2824	18	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	52.49	127	chr12	110628923	.	G	A	52.49	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.06;DP=1353;ExcessHet=0.119;FS=220.054;InbreedingCoeff=-0.0783;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.21;ReadPosRankSum=0.166;SOR=8.468	GT:AD:DP:GQ:PL	0/1:95,32:127:64:64,0,1585	15	0	2	2
chr12	114672059	114672059	C	G	exonic	TBX3	.	nonsynonymous SNV	TBX3:NM_005996:exon7:c.G1954C:p.G652R,TBX3:NM_016569:exon8:c.G2014C:p.G672R	Ulnar-mammary syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.247492404039	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367860375	1.409e-06	2.052e-06	2.788e-06	0	9.165e-07	2.3e-07	9e-08	.	.	0	0	0	0	2.024e-05	0	9.165e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43085	D	0.354	0.17268	T	0.908	0.50127	P	0.679	0.53442	P	0.000004	0.00162	N	5.296580	0.989815	0.41028	D	1.83	0.48079	L	-2.36	0.88143	D	-1.3	0.32590	N	0.123	0.11483	-0.1345	0.79296	T	0.737	0.91022	D	10	0.13109648	0.24949	T	0.247492	0.88971	D	0.284	0.60219	0.124	0.03018	0.584703298469	0.58143	0.4084870968023575	0.40764	0.521129704978	0.49893	0.739920258522	0.72961	T	0.189651	0.54395	T	-0.0426902	0.45550	T	-0.299098	0.44819	T	0.917940139770508	0.57598	D	0.790621	0.43132	T	0.20541883	0.42683	0.221877	0.47014	0.20541883	0.42683	0.221877	0.47013	-4.937	0.37442	T	.	.	0.231	0.46436	B	.;.	.;.	3.844532	0.55656	23.6	0.99757461113916501	0.84772	0.53803	0.29460	D	AEFDGBHCI	0.441906	0.49986	N	-0.0746010076496978	0.38510	2.256534	-0.0824575617781617	0.36115	2.097701	0.999999999955583	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.606814	0.37721	0	0.620976	0.48614	0	.	.	4.93	4.93	0.64394	1.128000	0.30982	2.488000	0.32971	0.599000	0.40250	0.099000	0.22773	0.989000	0.31174	0.846000	0.39970	0.0:0.9168:0.0:0.0832	12.652	0.56130	965	0.07246	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1280.33	33	chr12	114672059	.	C	G	1280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.994;SOR=0.729	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1294,0,1167	18	0	1	0
chr12	119516685	119516685	G	A	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon8:c.G946A:p.G316R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0029132671126	.	.	1.657e-05	0	0	0	0	1.505e-05	0	6.121e-05	1.29e-05	2	154602	rs749325577	2.669e-05	2.668e-05	1.906e-05	3.439e-05	0.0001	1.998e-05	1.754e-05	7.998e-05	6.237e-05	0	0	0	0	0	0	2.249e-05	3.312e-05	0.0001	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	0.114	0.28646	T	0.342	0.17910	T	0.023	0.18885	B	0.016	0.17743	B	0.996927	0.07992	N	0.998347	1	0.08975	N	0.665	0.16292	N	2.0	0.21473	T	-0.2	0.10136	N	0.181	0.19593	-1.0088	0.27292	T	0.037	0.15813	T	9	0.068422645	0.09676	T	0.002913	0.06162	T	0.051	0.14325	0.326	0.30873	0.178374595973	0.17440	0.24070604589450623	0.23984	0.0733822023131	0.08227	0.288550049067	0.08712	T	0.002555	0.01944	T	-0.386495	0.02833	T	-0.611422	0.11870	T	0.414678871631622	0.29492	T	0.522848	0.17081	T	0.025252106	0.01442	0.060692765	0.11598	0.025252106	0.01442	0.060692765	0.11598	-2.613	0.06603	T	.	.	0.12	0.24767	B	.	.	1.070488	0.14528	11.10	0.62946859158693724	0.07094	0.10590	0.16054	N	AEFBI	0.059829	0.11329	N	-0.75284756160293	0.14556	0.7260802	-0.740234377956621	0.15961	0.842126	3.13762896827812E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	3.87	0.43823	1.832000	0.38791	4.064000	0.41610	0.676000	0.76740	0.008000	0.17931	0.816000	0.27083	0.008000	0.08271	0.0998:0.0:0.9002:0.0	9.174	0.36261	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	454.33	41	chr12	119516685	.	G	A	454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=673;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.086;SOR=1.061	GT:AD:DP:GQ:PL	0/1:21,18:39:99:468,0,518	18	0	1	0
chr12	122976928	122976928	G	A	exonic	OGFOD2	.	nonsynonymous SNV	OGFOD2:NM_001304833:exon4:c.G361A:p.A121T,OGFOD2:NM_024623:exon5:c.G181A:p.A61T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.0936237783502	0.0002	.	4.19e-05	0	8.673e-05	0	0	6.081e-05	0	0	3.88e-05	6	154602	rs376280200	6.158e-05	6.225e-05	6.263e-05	6.052e-05	0.0003	5.096e-05	4.716e-05	6.092e-05	3.826e-05	0	8.947e-05	0.0006	0	0	0.0003	5.306e-05	9.937e-05	4.638e-05	7.228e-05	7.223e-05	5.139e-05	9.414e-05	0.0001	3.971e-05	3.127e-05	4.765e-05	3.339e-05	2.413e-05	0	6.545e-05	0.0006	0	0	0	0.0001	0	0	0.022	0.91255	D	0.059	0.92824	T	0.996	0.68779	D	0.712	0.54560	P	0.000002	0.62929	D	0.098604	1	0.81001	D	2.3	0.65703	M	-2.18	0.86815	D	-1.27	0.69714	N	0.713	0.72388	0.510	0.90694	D	0.750	0.91472	D	10	0.23349324	0.40369	T	0.093624	0.76107	D	0.390	0.70603	.	.	0.848201485793	0.84674	0.6242851283872166	0.62361	0.126736915152	0.14284	0.400595545769	0.25152	T	0.057352	0.43903	T	-0.0333022	0.46935	T	-0.059911	0.66339	T	0.301403164863586	0.25062	T	0.864214	0.56114	D	0.14010675	0.32339	0.15021478	0.35436	0.14010675	0.32338	0.15021478	0.35435	-3.556	0.18553	T	.	.	0.116	0.54434	B	.;.;.	.;.;.	4.097026	0.61058	24.3	0.99908181512743433	0.97801	0.82622	0.41824	D	AEFBCI	0.476320	0.51978	N	0.430593479294555	0.63112	4.538771	0.368606846991963	0.59635	4.14317	0.99999989201145	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	6.626000	0.74117	8.505000	0.77371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:1.0:0.0	16.761	0.85372	241	0.90582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1035.33	38	chr12	122976928	.	G	A	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.916;DP=760;ExcessHet=0;FS=2.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.305;SOR=0.392	GT:AD:DP:GQ:PL	0/1:49,37:86:99:1049,0,1348	18	0	1	0
chr12	130451329	130451329	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon6:c.G319A:p.A107T,RIMBP2:NM_001351227:exon7:c.G370A:p.A124T,RIMBP2:NM_001351226:exon8:c.G370A:p.A124T,RIMBP2:NM_001351228:exon8:c.G370A:p.A124T,RIMBP2:NM_001351229:exon8:c.G370A:p.A124T,RIMBP2:NM_001351230:exon8:c.G370A:p.A124T,RIMBP2:NM_001351231:exon8:c.G370A:p.A124T,RIMBP2:NM_001351232:exon8:c.G370A:p.A124T,RIMBP2:NM_001351233:exon9:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	4055049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00115451325701	.	.	8.323e-06	0	0	0	0	0	0	6.277e-05	6.5e-06	1	154602	rs745629723	1.164e-05	1.231e-05	9.537e-06	1.378e-05	0.0001	7.09e-06	5.8e-06	5.402e-05	4.046e-05	0	0	0	0	0	0	7.204e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.08710	T	0.61	0.07691	T	0.001	0.07471	B	0.0	0.01387	B	0.588326	0.05577	N	1.219460	1	0.08975	N	0.46	0.12951	N	2.1	0.19990	T	-0.46	0.14978	N	0.053	0.02462	-1.0228	0.22802	T	0.017	0.07092	T	10	0.040515184	0.02628	T	0.001155	0.01434	T	0.009	0.00846	0.255	0.19533	0.249502417897	0.24576	0.3141713611893635	0.31330	0.265770280135	0.29129	0.242486655712	0.03018	T	0.02238	0.17263	T	-0.557428	0.00263	T	-0.856955	0.00876	T	0.0379315263778979	0.03320	T	0.640736	0.25328	T	0.032594685	0.03314	0.041019358	0.04567	0.032594685	0.03313	0.041019358	0.04566	-4.012	0.23983	T	.	.	0.066	0.02458	B	.;.;.	.;.;.	-1.479350	0.00307	0.005	0.28306025414935654	0.01447	0.00653	0.02839	N	AEFDBI	0.049364	0.08519	N	-1.9366554606817	0.00288	0.01237145	-2.04891522845264	0.00240	0.01060077	0.999844575140157	0.43971	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.95	-7.89	0.01040	-3.777000	0.00415	-10.375000	0.00708	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2019:0.2296:0.2624:0.306	0.515	0.00562	990	0.01402	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	43	chr12	130451329	.	C	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=904;ExcessHet=0;FS=2.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.224;SOR=0.907	GT:AD:DP:GQ:PL	0/1:77,67:144:99:1686,0,1828	18	0	1	0
chr12	132583288	132583288	T	0	exonic	FBRSL1	.	.	.	.	338	1154	27	2	1	32	0.0132535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	164.6	22	chr12	132583288	.	T	*	164.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.483;DP=381;ExcessHet=0.119;FS=1.563;InbreedingCoeff=-0.0671;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=0.113;SOR=1.179	GT:AD:DP:GQ:PL	0/1:6,14:20:99:566,0,201	18	0	1	0
chr13	19633910	19633910	C	G	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon1:c.C162G:p.D54E	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0139648806632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	2.736e-06	1.363e-06	4.135e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.158	0.31629	T	0.319	0.32965	B	0.06	0.26717	B	0.010228	0.30012	N	0.368409	0.563896	0.32236	D	2.25	0.63811	M	1.03	0.40469	T	-1.55	0.37566	N	0.173	0.18512	-0.8514	0.51871	T	0.122	0.42378	T	10	0.112130105	0.21022	T	0.013965	0.33765	T	0.072	0.21020	0.197	0.10975	0.618824843891	0.61573	0.14317288710260823	0.14240	0.846876937887	0.68356	0.672044754028	0.63129	T	0.014929	0.12621	T	-0.200642	0.20712	T	-0.525985	0.19689	T	0.927994251251221	0.59118	D	0.737326	0.35372	T	0.14136034	0.32576	0.1522391	0.35827	0.14136034	0.32575	0.1522391	0.35826	-2.397	0.05114	T	.	.	0.193	0.41341	B	.	.	2.652119	0.34532	19.65	0.99667818476484715	0.78394	0.87613	0.47210	D	AEFDGBHCI	0.127587	0.24502	N	-0.118706485003527	0.36577	2.116216	-0.159291059258239	0.33053	1.886686	0.999999998624301	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.59	1.86	0.24489	0.217000	0.17389	0.048000	0.13961	0.524000	0.24156	0.996000	0.39380	0.937000	0.28687	0.639000	0.32395	0.0:0.4964:0.1564:0.3472	5.101	0.14094	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1359.33	35	chr13	19633910	.	C	G	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=777;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.526;SOR=0.91	GT:AD:DP:GQ:PL	0/1:85,53:138:99:1373,0,2147	18	0	1	0
chr13	24711329	24711329	G	C	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon22:c.G3029C:p.W1010S,ATP12A:NM_001676:exon22:c.G3011C:p.W1004S	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.406617657899	.	0.000399361	0.0003	0	0	0	0	0	0	0.0016	0.0001294	20	154602	rs186599537	5.106e-05	5.13e-05	1.508e-05	8.752e-05	0.0008	4.161e-05	3.811e-05	0.0007	0.0006	0	2.297e-05	0	0	0	0	9.049e-07	5.012e-05	0.0008	4.596e-05	4.593e-05	2.57e-05	6.714e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	6.539e-05	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.023	0.57104	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-4.48	0.97606	D	-10.26	0.98946	D	0.933	0.93959	1.096	0.99473	D	0.961	0.98756	D	10	0.8513335	0.84313	D	0.406618	0.93510	D	0.925	0.98154	.	.	0.996858443138	0.99682	0.918833274994641	0.91859	1.0458086974	0.75952	0.623627364635	0.56241	T	0.950841	0.99291	D	0.299582	0.82935	D	0.57452	0.96285	D	0.697972059249878	0.40622	D	0.889111	0.62070	D	0.98224086	0.99276	0.9686941	0.99407	0.98224086	0.99276	0.9686941	0.99408	-12.225	0.86569	D	.	.	0.723	0.74565	P	.;.	.;.	5.063203	0.84400	28.3	0.98975185382250774	0.49620	0.99412	0.95698	D	AEFBI	0.916485	0.88276	D	1.08589318300283	0.97864	16.91896	1.04174873882429	0.99283	21.66687	0.999999998094439	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	9.874000	0.98479	10.011000	0.83093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.060	0.89301	976	0.04745	.;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	36	chr13	24711329	.	G	C	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.684;DP=761;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.504;SOR=0.562	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1385,0,1612	18	0	1	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,67:270:99:0|1:25097005_A_G:2202,0,8322:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,67:270:99:0|1:25097005_A_G:2202,0,8322:25097005	7	0	12	0
chr13	32340215	32340215	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A5860G:p.T1954A	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	615057	Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Ovarian_cancer|Hereditary_breast_ovarian_cancer_syndrome|not_provided	MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.153	0.111310135282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.29420	T	0.063	0.45110	T	.	.	.	.	.	.	0.076900	0.21136	N	0.477190	0.922053	0.27269	N	.	.	.	5.69	0.00751	T	-3.71	0.70674	D	0.216	0.26957	-0.9876	0.33200	T	0.004	0.01261	T	10	0.18304375	0.33613	T	0.11131	0.78903	D	0.153	0.40148	0.223	0.14665	0.883233477708	0.88208	0.1504847417902119	0.14970	0.0224550323184	0.02262	0.286478340626	0.08412	T	.	.	.	-0.0858047	0.38768	T	-0.361029	0.37933	T	0.284867823123932	0.24376	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06942	B	.;.	.;.	1.226581	0.16211	12.39	0.94347844297993744	0.24694	0.69254	0.34115	D	AEFBI	0.084547	0.17135	N	-0.219272530139544	0.32343	1.823023	-0.174044731980714	0.32495	1.849248	0.937575035999066	0.27304	0.615465	0.37627	0	0.633656	0.55848	0	0.536957	0.11973	0	0.655142	0.61905	0	.	.	5.72	3.32	0.37134	0.928000	0.28431	0.460000	0.18609	0.756000	0.94297	0.013000	0.18845	0.001000	0.17328	0.320000	0.24970	0.7162:0.0:0.2838:0.0	7.952	0.29180	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2441.33	112	chr13	32340215	.	A	G	2441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=2178;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.646;SOR=0.4	GT:AD:DP:GQ:PL	0/1:84,91:175:99:2455,0,2260	18	0	1	0
chr13	32773316	32773316	A	G	exonic	PDS5B	.	nonsynonymous SNV	PDS5B:NM_015032:exon34:c.A4300G:p.T1434A	.	.	.	.	.	.	.	.	.	.	.	3372061	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00130641864642	.	.	8.437e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs762936755	1.645e-05	1.642e-05	1.636e-05	1.653e-05	5.048e-05	1.113e-05	9.35e-06	8.36e-06	3.32e-06	0	0	3.845e-05	5.048e-05	0	0	9.002e-06	0.0002	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0002	0	1.47e-05	0	0	0.647	0.04897	T	0.818	0.03852	T	0.0	0.02946	B	0.0	0.01387	B	0.131129	0.18633	N	0.550392	0.999504	0.21084	N	0	0.06538	N	.	.	.	0.07	0.06138	N	0.244	0.27554	-1.0017	0.29430	T	0.034	0.14726	T	9	0.049138665	0.04460	T	0.001306	0.01809	T	0.016	0.02506	0.258	0.20002	0.043077524339	0.03247	0.08882947942212223	0.08815	0.0832408400961	0.09385	0.325409382582	0.14240	T	0.058737	0.30925	T	-0.273034	0.11422	T	-0.629971	0.10417	T	0.0285929907113314	0.01775	T	0.534247	0.17838	T	0.017709188	0.00296	0.018568441	0.00059	0.017709188	0.00295	0.018568441	0.00059	-3.662	0.18759	T	.	.	0.056	0.00470	B	.	.	1.620492	0.20700	14.87	0.84498781240265675	0.15327	0.61596	0.31531	D	AEFBI	0.065908	0.12879	N	-0.897596326477495	0.10899	0.5231693	-0.736613391248472	0.16052	0.8473344	0.665460401019671	0.22317	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.72	-1.01	0.09650	0.256000	0.18120	0.765000	0.21347	-0.054000	0.16847	0.992000	0.37556	0.541000	0.25415	0.907000	0.44265	0.4767:0.1522:0.3711:0.0	5.319	0.15177	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	566.33	34	chr13	32773316	.	A	G	566.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.382;DP=678;ExcessHet=0;FS=6.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.812;SOR=0.23	GT:AD:DP:GQ:PL	0/1:26,23:49:99:580,0,716	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:86,37:128:35:35,0,1767	6	0	12	1
chr13	44965895	44965895	A	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.T776C:p.L259S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0144087814662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.903e-07	6.157e-06	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.67e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.12920	T	0.282	0.21545	T	1.0	0.90584	D	0.999	0.92359	D	0.005665	0.32605	N	0.251292	0.966265	0.38519	D	2.295	0.65404	M	0.85	0.47130	T	-1.99	0.45949	N	0.514	0.54496	-0.6955	0.60652	T	0.249	0.61901	T	10	0.5624459	0.64864	D	0.014409	0.34508	T	0.244	0.55061	0.396	0.42262	0.933169900923	0.93248	0.4243458889454756	0.42351	0.36963300804	0.38492	0.709573328495	0.68531	T	0.162448	0.50711	T	-0.0462581	0.45015	T	-0.304223	0.44277	T	0.983038306236267	0.74855	D	0.738826	0.35731	T	0.087933496	0.20495	0.09190997	0.21632	0.087933496	0.20495	0.09190997	0.21632	-8.196	0.62398	D	.	.	0.619	0.69677	P	.	.	4.401510	0.68008	25.2	0.99859594864487256	0.93820	0.88633	0.48653	D	AEGBI	0.414746	0.48388	N	0.562722688727334	0.70862	5.564027	0.535488571739612	0.70396	5.498846	0.999861258649048	0.44398	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	4.89	0.63387	4.597000	0.60770	8.089000	0.76512	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.074	0.47240	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	80.83	20	chr13	44965895	.	A	G	80.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.16;DP=540;ExcessHet=0.119;FS=37.455;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.972;SOR=4.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,2:22:24:0|1:44965895_A_G:24,0,831:44965895	17	0	2	0
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1786	161.85	13	chr13	44965897	.	C	G	161.85	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-1.093;DP=380;ExcessHet=1.3;FS=147.874;InbreedingCoeff=-0.2464;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.4;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,2:22:24:0|1:44965895_A_G:24,0,831:44965895	9	0	5	5
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	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/1:101,31:132:41:41,0,1900	11	0	8	0
chr13	77205339	77205339	T	C	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon26:c.A3760G:p.I1254V	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0173125764586	.	0.00119808	0.0007	0	0.0002	0	0	0	0.0022	0.0049	0.0005886	91	154602	rs573877665	0.0003	0.0003	0.0001	0.0004	0.0043	0.0002	0.0002	0.0039	0.0038	2.988e-05	0	0	0	0	0	8.994e-07	0.0003	0.0043	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0039	0.0034	2.406e-05	0	0	0	0	0	0	2.941e-05	0.0009	0.0056	0.1	0.30515	T	0.158	0.31629	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.99996	0.52935	D	.	.	.	0.66	0.52416	T	-0.63	0.18459	N	0.473	0.50868	-0.6779	0.61469	T	0.238	0.60583	T	10	0.013831377	0.00292	T	0.017313	0.38957	T	0.264	0.57741	0.625	0.76028	0.27064940482	0.26676	.	.	1.12298111815	0.78345	0.737601518631	0.72619	T	.	.	.	-0.392694	0.02584	T	-0.336451	0.40746	T	0.101878949129685	0.12563	T	0.941706	0.78221	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.757254	0.53892	23.4	0.96394839180142766	0.29668	0.97697	0.76485	D	AEFBI	0.825055	0.74482	D	0.271012656077205	0.54684	3.63353	0.273590411129029	0.54003	3.566675	0.999999971976247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.670000	0.82907	6.211000	0.55013	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.254000	0.23365	0.0:0.0:0.0:1.0	14.725	0.68954	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1356.33	34	chr13	77205339	.	T	C	1356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.632;DP=710;ExcessHet=0;FS=7.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.366;SOR=0.229	GT:AD:DP:GQ:PL	0/1:34,56:90:99:1370,0,888	18	0	1	0
chr13	97346870	97346870	G	A	exonic	MBNL2	.	nonsynonymous SNV	MBNL2:NM_001382682:exon4:c.G322A:p.A108T,MBNL2:NM_001382693:exon4:c.G442A:p.A148T,MBNL2:NM_001382696:exon4:c.G322A:p.A108T,MBNL2:NM_001306070:exon5:c.G607A:p.A203T,MBNL2:NM_001382649:exon5:c.G607A:p.A203T,MBNL2:NM_001382650:exon5:c.G607A:p.A203T,MBNL2:NM_001382652:exon5:c.G607A:p.A203T,MBNL2:NM_001382656:exon5:c.G607A:p.A203T,MBNL2:NM_001382661:exon5:c.G607A:p.A203T,MBNL2:NM_001382666:exon5:c.G607A:p.A203T,MBNL2:NM_001382667:exon5:c.G607A:p.A203T,MBNL2:NM_001382669:exon5:c.G607A:p.A203T,MBNL2:NM_001382670:exon5:c.G607A:p.A203T,MBNL2:NM_001382671:exon5:c.G607A:p.A203T,MBNL2:NM_001382672:exon5:c.G607A:p.A203T,MBNL2:NM_001382673:exon5:c.G607A:p.A203T,MBNL2:NM_001382674:exon5:c.G607A:p.A203T,MBNL2:NM_001382675:exon5:c.G607A:p.A203T,MBNL2:NM_001382676:exon5:c.G607A:p.A203T,MBNL2:NM_001382681:exon5:c.G607A:p.A203T,MBNL2:NM_001382683:exon5:c.G607A:p.A203T,MBNL2:NM_001382684:exon5:c.G607A:p.A203T,MBNL2:NM_001382685:exon5:c.G607A:p.A203T,MBNL2:NM_001382686:exon5:c.G607A:p.A203T,MBNL2:NM_001382687:exon5:c.G607A:p.A203T,MBNL2:NM_001382688:exon5:c.G607A:p.A203T,MBNL2:NM_144778:exon5:c.G607A:p.A203T,MBNL2:NM_207304:exon5:c.G607A:p.A203T,MBNL2:NM_001382654:exon6:c.G607A:p.A203T,MBNL2:NM_001382660:exon6:c.G607A:p.A203T,MBNL2:NM_001382663:exon6:c.G607A:p.A203T,MBNL2:NM_001382668:exon6:c.G607A:p.A203T,MBNL2:NM_001382689:exon6:c.G478A:p.A160T,MBNL2:NM_001382690:exon6:c.G478A:p.A160T,MBNL2:NM_001382691:exon6:c.G478A:p.A160T,MBNL2:NM_001382692:exon6:c.G478A:p.A160T,MBNL2:NM_001382651:exon7:c.G607A:p.A203T,MBNL2:NM_001382653:exon7:c.G607A:p.A203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0112436927501	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0	0	0.00011	17	154602	rs376380451	6.089e-05	6.088e-05	6.263e-05	5.914e-05	0.0002	5.029e-05	4.672e-05	0.0001	9.193e-05	2.987e-05	0.0002	0.0022	0	0	0	8.095e-06	0.0002	0	5.261e-05	5.255e-05	7.713e-05	2.693e-05	2.941e-05	2.559e-05	1.831e-05	4.88e-06	1.83e-06	0	0	0	0.0017	0	0	0	2.941e-05	0	0	0.353	0.13479	T	0.674	0.07716	T	0.02	0.37219	B	0.067	0.38902	B	0.000006	0.62929	D	0.144281	0.996089	0.81001	D	0.915	0.23335	L	1.48	0.31731	T	-1.16	0.29933	N	0.538	0.56576	-1.0900	0.05532	T	0.062	0.25780	T	10	0.03393373	0.01584	T	0.011244	0.28661	T	0.078	0.22779	.	.	0.228066490088	0.22430	0.46823783887520615	0.46742	0.858780250955	0.68872	0.76560151577	0.76765	T	0.095911	0.39718	T	-0.345091	0.05043	T	-0.435916	0.29265	T	0.0307883266359568	0.02113	T	0.914109	0.69400	D	0.113722876	0.26855	0.13703665	0.32767	0.113722876	0.26855	0.13703665	0.32766	-4.111	0.25452	T	.	.	0.073	0.07177	B	.;.;.;.	.;.;.;.	5.061341	0.84364	28.3	0.99758151479377166	0.84851	0.95192	0.63778	D	AEFDGBHI	0.418116	0.48588	N	0.146260243143484	0.48634	3.073365	0.32781432693418	0.57179	3.882927	0.999999962947652	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.550215	0.18615	0	0.714379	0.83352	0	.	.	5.95	5.03	0.67015	5.088000	0.64319	8.341000	0.76995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8704:0.1296	17.907	0.88840	786	0.46839	Zinc finger, CCCH-type|Zinc finger, CCCH-type;Zinc finger, CCCH-type|Zinc finger, CCCH-type;Zinc finger, CCCH-type|Zinc finger, CCCH-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1585.33	36	chr13	97346870	.	G	A	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=769;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-2.213;SOR=0.614	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1599,0,1254	18	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:132,55:196:81:81,0,3027	7	0	8	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:127,53:190:96:96,0,2932	5	0	11	3
chr13	110456857	110456857	-	GTGCGT	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.867_868insACGCAC:p.Q289_G290insTH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs761893253	0.0011	0.0006	0.0010	0.0011	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0.0003	0.0010	0	0.0005	0	0.0012	0.0008	0.0018	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0004	0.0004	2.433e-05	0	0.0002	0.0006	0	0.0006	0	0.0005	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1366.29	87	chr13	110456857	.	C	CGTGCGT	1366.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=1393;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.01;MQRankSum=0.602;QD=13.53;ReadPosRankSum=0.242;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,48:101:99:0|1:110456857_C_CGTGCGT:1380,0,1593:110456857	18	0	1	0
chr13	110456862	110456862	-	TGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.862_863insTGCACGGCATCAGCCCCACGGACGCCTGGGGTCCCA:p.Q287_T288insMHGISPTDAWGP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs759360698	0.0010	0.0007	0.0009	0.0011	0.0019	0.0010	0.0009	0.0016	0.0015	0.0002	0.0003	0.0009	0	0.0004	0	0.0011	0.0007	0.0019	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0004	0.0004	2.584e-05	0	0.0002	0.0006	0	0.0006	0	0.0006	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1439.29	42	chr13	110456862	.	G	GTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA	1439.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=1091;ExcessHet=0;FS=5.068;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.8;MQRankSum=-0.478;QD=14.25;ReadPosRankSum=-0.839;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,49:101:99:0|1:110456857_C_CGTGCGT:1453,0,1568:110456857	18	0	1	0
chr13	110719251	110719251	G	C	exonic	ING1	.	nonsynonymous SNV	ING1:NM_001267728:exon2:c.G108C:p.E36D,ING1:NM_005537:exon2:c.G588C:p.E196D,ING1:NM_198217:exon2:c.G27C:p.E9D,ING1:NM_198219:exon2:c.G159C:p.E53D	Squamous cell carcinoma, head and neck, somatic	8	1509	4	1	0	6	0.00198413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00633789217804	0.0005	0.000599042	0.0009	0	0.0003	0	0	0.0010	0	0.0020	0.0007115	110	154602	rs138276642	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0017	0.0016	0	6.708e-05	0.0134	0	0	0.0012	9.083e-05	0.0013	0.0020	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0	0	0	0.0182	0	0	0	0.0001	0	0.0021	1.0	0.16738	T	0.895	0.15602	T	0.0	0.02946	B	0.002	0.06944	B	0.003665	0.34636	N	0.332010	1	0.81001	D	.	.	.	0.84	0.47477	T	0.04	0.10308	N	0.111	0.09772	-0.9697	0.37262	T	0.045	0.19275	T	10	0.003244102	0.00055	T	0.006338	0.16668	T	0.024	0.04979	0.338	0.32816	0.254244900254	0.25046	0.05736288601001435	0.05677	1.03796569451	0.75674	0.530464112759	0.43100	T	0.025902	0.19278	T	-0.645014	0.00078	T	-0.706558	0.05475	T	0.0160968410488355	0.00387	T	0.806819	0.45805	T	.	.	.	.	.	.	.	.	-3.995	0.23729	T	.	.	0.056	0.09288	B	.;.;.;.	.;.;.;.	-0.505994	0.01848	0.148	0.1955308789083853	0.00665	0.09699	0.15396	N	AEFDBCI	0.044636	0.07205	N	-1.41968783469531	0.02466	0.1089312	-1.4647385711663	0.02639	0.1217504	0.999999890866248	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.13	-6.52	0.01703	-1.070000	0.03551	-3.663000	0.02622	0.526000	0.24426	0.017000	0.19353	0.000000	0.08366	0.351000	0.25682	0.1068:0.6016:0.1721:0.1195	8.676	0.33343	982	0.03397	.;.;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1552.33	34	chr13	110719251	.	G	C	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.751;DP=748;ExcessHet=0;FS=1.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.619;SOR=0.538	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1566,0,1779	18	0	1	0
chr14	19434246	19434246	T	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.A44G:p.K15R	.	420	1082	20	0	0	20	0.00915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00355896652263	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs559699024	5.342e-05	0.0004	3.406e-05	7.299e-05	0.0006	4.349e-05	4.022e-05	0.0005	0.0004	2.99e-05	0	0	0	0	0	1.979e-05	8.298e-05	0.0006	9.198e-05	0.0003	7.714e-05	0.0001	0.0015	5.527e-05	4.364e-05	0.0007	0.0005	0	0	0.0001	0	0	0	0	5.885e-05	0.0005	0.0015	0.0	0.91255	D	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-0.62	0.18248	N	0.179	0.19325	-1.0026	0.29168	T	0.134	0.44700	T	6	0.08180854	0.13434	T	0.003559	0.08123	T	.	.	0.286	0.24440	0.0934897674506	0.08844	0.0023369445484234053	0.00216	.	.	0.582423329353	0.50426	T	0.004204	0.03611	T	-0.203433	0.20309	T	-0.529994	0.19287	T	0.0873784795403481	0.10904	T	0.789321	0.42944	T	0.13709721	0.31758	0.21321933	0.45823	0.13709721	0.31758	0.21321933	0.45822	-3.978	0.23473	T	.	.	0.091	0.13221	B	.	.	2.168976	0.27642	17.53	0.99304560410103992	0.58759	0.00664	0.02871	N	AEFI	0.034539	0.04297	N	-0.567450050669242	0.19940	1.047478	-0.854302654597756	0.13185	0.6825757	1.20765058704745E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.150000	0.16082	0.189000	0.15722	0.296000	0.18849	0.086000	0.22486	0.808000	0.27011	0.011000	0.09372	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1135.83	470	chr14	19434246	.	T	C	1135.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.229;DP=7004;ExcessHet=0.119;FS=0.958;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=33.45;MQRankSum=1.5;QD=1.06;ReadPosRankSum=-0.282;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:434,56:490:99:.:.:187,0,16273:.	17	0	2	0
chr14	19935887	19935887	C	G	exonic	OR4K1	.	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.C221G:p.S74C	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00106788272379	0.0011	0.000399361	0.0013	0.0002	0.0036	0	0.0008	0.0011	0.0011	0.0017	0.0010608	164	154602	rs147067678	0.0008	0.0009	0.0008	0.0008	0.0045	0.0007	0.0007	0.0032	0.0027	8.961e-05	0.0017	0.0066	0	0.0003	0.0045	0.0006	0.0013	0.0011	0.0008	0.0008	0.0007	0.0008	0.0010	0.0007	0.0006	0.0008	0.0007	0.0002	0	0.0003	0.0058	0	0.0009	0.0034	0.0010	0.0024	0.0002	0.06	0.37326	T	0.108	0.37589	T	0.998	0.73220	D	0.91	0.64641	D	0.001031	0.40562	N	0.112078	1	0.08975	N	1.715	0.44382	L	5.63	0.00800	T	-3.19	0.64593	D	0.274	0.31027	-1.0082	0.27479	T	0.010	0.03856	T	10	0.0044441223	0.00091	T	0.001068	0.01239	T	0.118	0.32913	.	.	0.42573502686	0.42190	0.28139189243566165	0.28052	0.00138996172614	0.00116	0.31244340539	0.12276	T	0.006977	0.06403	T	-0.485597	0.00687	T	-0.489318	0.23464	T	0.0559480050221536	0.06516	T	0.29547	0.05467	T	0.22023651	0.44574	0.24597196	0.50096	0.22023651	0.44574	0.24597196	0.50095	-6.727	0.52013	T	.	.	0.114	0.25914	B	.;.;.	.;.;.	4.285108	0.65301	24.8	0.97065796034949325	0.32213	0.18492	0.20282	N	AEFI	0.062781	0.12091	N	0.32433742329637	0.57400	3.907199	0.232457311076695	0.51658	3.346372	0.908363759924338	0.26283	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	4.02	0.45968	1.340000	0.33501	1.228000	0.25023	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.8404:0.1595:0.0	13.265	0.59560	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.000000	0.050000	0.017241	0.009146	0.000000	0.05263	4948.83	37	chr14	19935887	.	C	G	4948.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.21;DP=2738;ExcessHet=0.119;FS=2.499;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.66;SOR=0.784	GT:AD:DP:GQ:PL	0/1:95,94:189:99:2513,0,2431	17	0	2	0
chr14	20455957	20455957	-	A	exonic	APEX1	.	frameshift insertion	APEX1:NM_001244249:exon3:c.103dupA:p.E36Rfs*11,APEX1:NM_001641:exon3:c.103dupA:p.E36Rfs*11,APEX1:NM_080648:exon3:c.103dupA:p.E36Rfs*11,APEX1:NM_080649:exon3:c.103dupA:p.E36Rfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001009	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1312.29	33	chr14	20455957	.	C	CA	1312.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=711;ExcessHet=0;FS=9.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=0.717;SOR=0.359	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1326,0,831	18	0	1	0
chr14	22904990	22904990	G	A	exonic	RBM23	.	nonsynonymous SNV	RBM23:NM_001077352:exon7:c.C647T:p.A216V,RBM23:NM_001308044:exon7:c.C239T:p.A80V,RBM23:NM_001352762:exon8:c.C239T:p.A80V,RBM23:NM_018107:exon8:c.C701T:p.A234V,RBM23:NM_001077351:exon9:c.C749T:p.A250V,RBM23:NM_001352765:exon9:c.C701T:p.A234V,RBM23:NM_001352763:exon10:c.C749T:p.A250V,RBM23:NM_001352764:exon10:c.C881T:p.A294V,RBM23:NM_001352766:exon11:c.C749T:p.A250V	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0196778072524	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449271677	5.472e-06	5.472e-06	5.445e-06	5.5e-06	2.236e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.396e-06	0	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.004	0.65419	D	0.029	0.56640	D	0.972	0.57405	D	0.76	0.56425	P	0.000003	0.62929	D	0.000000	0.999998	0.81001	D	2.13	0.59329	M	3.57	0.74159	T	-2.59	0.60827	D	0.638	0.65074	-0.0089	0.82072	T	0.495	0.80854	T	10	0.4372459	0.57872	T	0.019678	0.42104	T	0.235	0.53788	0.359	0.36222	0.879556519432	0.87838	0.30156648546647713	0.30069	0.160772206657	0.18148	0.561773717403	0.47518	T	0.147106	0.48503	T	0.0733253	0.61250	D	-0.0355956	0.67996	D	0.818558990955353	0.47665	D	0.976302	0.93870	D	0.3261616	0.55154	0.3450225	0.60191	0.3261616	0.55154	0.3450225	0.60190	-10.017	0.74133	D	.	.	0.519	0.65457	A	.;.;.;.;.	.;.;.;.;.	4.411789	0.68252	25.2	0.99915653365783774	0.98379	0.99136	0.91756	D	AEFBI	0.924278	0.90206	D	0.516530139413551	0.68066	5.166426	0.629689941122064	0.77105	6.615898	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	9.464000	0.96825	8.718000	0.78154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	18.836	0.92130	795	0.45444	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1678.33	34	chr14	22904990	.	G	A	1678.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.088;DP=1171;ExcessHet=0;FS=3.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.034;SOR=1.123	GT:AD:DP:GQ:PL	0/1:42,59:101:99:1692,0,1347	18	0	1	0
chr14	23182829	23182829	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon1:c.C86T:p.S29F	.	422	1048	49	3	0	55	0.0255695	.	.	.	702816	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.487	.	0.0028	0.0081869	0.0080	0.0003	0.0014	0	0.0006	0.0045	0.0067	0.0400	0.0070762	1094	154602	rs149980964	0.0047	0.0047	0.0036	0.0058	0.0380	0.0046	0.0046	0.0369	0.0365	0.0007	0.0019	0.0038	2.519e-05	0.0004	0.0196	0.0027	0.0050	0.0380	0.0032	0.0032	0.0028	0.0035	0.0345	0.0029	0.0028	0.0302	0.0286	0.0004	0	0.0016	0.0055	0	0.0002	0.0238	0.0035	0.0033	0.0345	0.017	0.57480	D	0.013	0.63109	D	0.832	0.46138	P	0.372	0.43610	B	0.341355	0.04190	N	1.418020	0.992952	0.41792	D	0.805	0.20218	L	-2.77	0.94729	D	-1.63	0.55181	N	0.273	0.30914	-0.1033	0.80023	T	0.687	0.89202	D	10	0.0052812696	0.00115	T	.	.	.	0.487	0.77528	.	.	0.909297500959	0.90839	0.3522502682804079	0.35139	0.297628983758	0.32147	0.453847408295	0.32470	T	0.361478	0.72755	T	-0.122026	0.32792	T	0.0805097	0.75612	D	0.0209146189981329	0.00792	T	0.665033	0.27384	T	0.2062962	0.42800	0.25939348	0.51687	0.16817287	0.37258	0.25939348	0.51686	-8.313	0.63183	D	.	.	0.099	0.35726	B	.;.;.;.	.;.;.;.	4.600120	0.72850	25.9	0.99476875340855098	0.66633	0.76768	0.37677	D	ALL	0.757503	0.69644	D	0.289633842244921	0.55621	3.726227	0.403552687569752	0.61787	4.383672	0.999999999999875	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	5.45	5.45	0.79688	5.488000	0.66589	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	16.771	0.85399	851	0.35303	.;.;.;.	.	.	.	.	.	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	0.012085	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.045455	0.02632	2424.33	33	chr14	23182829	.	G	A	2424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.217;DP=852;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.456;SOR=0.74	GT:AD:DP:GQ:PL	0/1:91,100:191:99:2438,0,2197	18	0	1	0
chr14	23556933	23556933	A	C	exonic	THTPA	.	nonsynonymous SNV	THTPA:NM_001256062:exon1:c.A176C:p.D59A,THTPA:NM_001256322:exon1:c.A176C:p.D59A,THTPA:NM_024328:exon1:c.A176C:p.D59A,THTPA:NM_001126339:exon2:c.A176C:p.D59A,THTPA:NM_001256321:exon2:c.A176C:p.D59A,THTPA:NM_001256323:exon2:c.A176C:p.D59A	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0102642061013	7.7e-05	0.000399361	9.172e-05	0.0005	8.75e-05	0	0	7.584e-05	0	0	8.41e-05	13	154602	rs140606262	0.0001	0.0001	9.801e-05	0.0001	0.0010	9.091e-05	8.598e-05	0.0005	0.0003	5.974e-05	0	3.826e-05	0	0	0.0010	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.404e-05	0.0002	7.09e-05	5.747e-05	0.0001	9.901e-05	7.223e-05	0	0	0	0	0	0	0.0002	0	0	0.033	0.45756	D	0.047	0.53426	D	0.004	0.12183	B	0.006	0.12133	B	0.004974	0.33218	N	0.342940	0.700885	0.33420	D	1.245	0.31408	L	0.83	0.47815	T	-1.18	0.38924	N	0.321	0.44761	-1.0182	0.24301	T	0.078	0.31012	T	10	0.031126946	0.01244	T	0.010264	0.26588	T	0.034	0.08419	.	.	0.348101942276	0.34424	0.5563201019673493	0.55559	0.0171494012742	0.01662	0.24168035388	0.02943	T	0.062336	0.63029	T	-0.319242	0.06960	T	-0.416911	0.31430	T	0.0332134485166146	0.02507	T	0.631037	0.24617	T	0.4041689	0.61020	0.11229771	0.27095	0.4041689	0.61020	0.11229771	0.27094	-3.631	0.32830	T	.	.	0.107	0.22825	B	.;.;.;.;.;.	.;.;.;.;.;.	3.645166	0.51706	23.1	0.98537412931471047	0.42670	0.54278	0.29577	D	AEFDBHCI	0.162745	0.28895	N	-0.36146123986861	0.26853	1.468776	-0.210209897653969	0.31168	1.761408	0.999999610058404	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	5.91	2.8	0.31881	1.878000	0.39244	3.898000	0.40333	-0.043000	0.17390	0.986000	0.36153	1.000000	0.68203	0.961000	0.51904	0.4079:0.0:0.5921:0.0	7.112	0.24576	518	0.74548	CYTH domain|CYTH domain|CYTH domain;CYTH domain|CYTH domain|CYTH domain;CYTH domain|CYTH domain;.;CYTH domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	4686.83	33	chr14	23556933	.	A	C	4686.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.89;DP=998;ExcessHet=0.119;FS=3.855;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.456;SOR=0.529	GT:AD:DP:GQ:PL	0/1:96,89:185:99:2320,0,2551	17	0	2	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	681.04	170	chr14	24300437	.	G	C	681.04	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-4.585;DP=2057;ExcessHet=1.3;FS=376.992;InbreedingCoeff=-0.281;MLEAC=7;MLEAF=0.269;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.41;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,38:104:99:.:.:290,0,1693:.	8	0	5	6
chr14	24376891	24376891	-	T	exonic	NFATC4	.	frameshift insertion	NFATC4:NM_001288802:exon9:c.2619dupT:p.G874Wfs*4,NFATC4:NM_001136022:exon10:c.2844dupT:p.G949Wfs*4	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0008	0	0	0	0	0.0001	0.0020	0.0079	0.0005304	82	154602	rs545800363	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0002	0.0041	0.0039	0	0	0	0	2.013e-05	0	2.504e-05	0.0004	0.0044	0.0002	0.0002	0.0002	0.0003	0.0056	0.0001	0.0001	0.0040	0.0034	0	0	6.542e-05	0	0	0	0	2.942e-05	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1329.29	43	chr14	24376891	.	C	CT	1329.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.146;DP=787;ExcessHet=0;FS=4.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.55;ReadPosRankSum=1.92;SOR=0.315	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1343,0,741	18	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:48,26:74:99:137,0,879	3	0	16	0
chr14	59576772	59576772	C	A	exonic	CCDC175	.	nonsynonymous SNV	CCDC175:NM_001164399:exon1:c.G4T:p.A2S	.	490	1030	2	0	0	2	0.000969932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0831008250476	.	0.000798722	0.0010	0	0	0	0	0	0	0.0022	0.0001164	18	154602	rs541218933	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	0	0.0021	5.578e-05	0.0003	0.0025	9.196e-05	9.187e-05	7.71e-05	0.0001	0.0025	5.526e-05	4.363e-05	0.0014	0.0011	0	0	0	0	0	0	0	2.941e-05	0	0.0025	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.214354	0.16289	N	0.514586	0.880075	0.28064	N	2.175	0.60977	M	1.55	0.30401	T	-1.08	0.28084	N	0.114	0.10198	-0.9364	0.43180	T	0.152	0.48170	T	6	0.010012358	0.00224	T	0.083101	0.74043	D	.	.	.	.	0.0551355673512	0.04727	0.0841735752962845	0.08351	.	.	0.467587769032	0.34349	T	0.005458	0.15311	T	-0.528086	0.00394	T	-0.536573	0.18634	T	0.176099171915696	0.18985	T	0.489851	0.15048	T	0.13267383	0.30885	0.16200858	0.37655	0.13267383	0.30884	0.16200858	0.37654	-3.821	0.21119	T	.	.	0.160	0.35393	B	.;.	.;.	1.628446	0.20790	14.91	0.99724073860010531	0.82266	0.33410	0.24821	N	ALL	0.112893	0.22296	N	-0.0648574483931777	0.38942	2.288601	-0.101948165016205	0.35312	2.041448	0.999999999996672	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	3.61	3.61	0.40494	0.190000	0.16864	0.003000	0.13321	-0.223000	0.07921	0.611000	0.27839	0.819000	0.27109	0.029000	0.12982	0.0:1.0:0.0:0.0	11.053	0.47119	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	34	chr14	59576772	.	C	A	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=693;ExcessHet=0;FS=1.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.77;ReadPosRankSum=-0.113;SOR=0.425	GT:AD:DP:GQ:PL	0/1:11,27:38:99:765,0,261	18	0	1	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing 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	.	.	.	.	.	.	.	.	0.07895	387.89	47	chr14	63599753	.	G	A	387.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.09;DP=1457;ExcessHet=0.3672;FS=9.948;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=58.89;MQRankSum=-10.84;QD=0.64;ReadPosRankSum=-1.223;SOR=2.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,15:198:79:0|1:63599753_G_A:79,0,7589:63599753	16	0	3	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,33:127:99:.:.:105,0,1798:.	2	0	15	2
chr14	67786228	67786228	G	A	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon17:c.C3025T:p.R1009W	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	25	1494	3	0	0	3	0.00100301	.	.	.	528706	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0791967704423	.	0.000199681	0.0003	0	0	0	0.0002	3.012e-05	0	0.0018	0.0002135	33	154602	rs374605354	0.0001	0.0001	7.693e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0.0002	0.0002	2.814e-05	0.0002	0.0018	6.506e-05	7.781e-05	6.028e-05	7.066e-05	0.0013	3.192e-05	2.316e-05	0.0005	0.0003	2.953e-05	0	0	0	0	0.0002	0	1.603e-05	0	0.0013	0.003	0.68238	D	0.001	0.83351	D	0.999	0.77913	D	0.736	0.55529	P	0.000136	0.49741	D	0.123358	0.859153	0.35356	D	.	.	.	1.56	0.33412	T	-2.16	0.48850	N	0.534	0.56231	-0.7397	0.58468	T	0.124	0.42778	T	10	0.026570886	0.00820	T	0.079197	0.73180	D	0.203	0.48915	0.44	0.49484	0.481988042695	0.47829	0.2936936814610451	0.29282	0.628620718257	0.56926	0.332092016935	0.15250	T	0.068286	0.33418	T	-0.403757	0.02187	T	-0.360009	0.38051	T	0.234925690915552	0.22184	T	0.839616	0.51418	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23640	B	.;.	.;.	4.634044	0.73709	26.0	0.99901032253799427	0.97275	0.73501	0.35953	D	AEFBI	0.332108	0.43162	N	-0.0122235161368606	0.41303	2.468024	-0.0836181258160947	0.36067	2.094275	0.0942507979259354	0.16201	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.44	2.16	0.26663	2.225000	0.42597	3.465000	0.38541	-0.154000	0.11915	0.087000	0.22510	0.559000	0.25510	0.987000	0.62547	0.0:0.0:0.4432:0.5568	14.319	0.66027	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1149.33	39	chr14	67786228	.	G	A	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.539;DP=859;ExcessHet=0;FS=1.361;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.69;ReadPosRankSum=0.6;SOR=0.425	GT:AD:DP:GQ:PL	0/1:13,40:53:99:1163,0,303	18	0	1	0
chr14	70167270	70167270	C	T	exonic	SLC8A3	.	nonsynonymous SNV	SLC8A3:NM_033262:exon2:c.G1153A:p.E385K,SLC8A3:NM_058240:exon2:c.G1153A:p.E385K,SLC8A3:NM_182932:exon2:c.G1153A:p.E385K,SLC8A3:NM_183002:exon2:c.G1153A:p.E385K	.	.	.	.	.	.	.	.	.	.	.	4068261	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0273076079756	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438650441	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0001	8.31e-06	6.7e-06	3.348e-05	1.981e-05	2.987e-05	0	0	0.0001	0	0	1.259e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.023	0.49117	D	0.334	0.18732	T	0.811	0.46605	P	0.146	0.38116	B	0.000001	0.84330	D	0.054654	1	0.81001	D	2.08	0.57402	M	1.33	0.36691	T	-1.89	0.44284	N	0.69	0.69562	-0.9347	0.43439	T	0.192	0.54418	T	10	0.63748604	0.68865	D	0.027308	0.50134	D	0.102	0.29158	0.399	0.42753	0.245697971988	0.24196	0.5378766932209852	0.53712	0.366406854506	0.38217	0.538694500923	0.44261	T	0.229903	0.59584	T	-0.0398596	0.45969	T	-0.295032	0.45248	T	0.912504851818085	0.56843	D	0.960204	0.84976	D	0.22117123	0.44688	0.27533373	0.53468	0.22117123	0.44688	0.27533373	0.53467	-6.758	0.53771	T	.	.	0.243	0.47773	B	.;.;.;.;.	.;.;.;.;.	4.230304	0.64060	24.7	0.99678658787949914	0.79108	0.96116	0.67606	D	AEFGBI	0.631314	0.61234	D	0.494408801811757	0.66761	4.992287	0.534190247562169	0.70306	5.485755	0.986407396025654	0.31058	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	5.019000	0.63828	6.034000	0.52951	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:1.0:0.0:0.0	20.124	0.97973	664	0.61548	.;Na-Ca exchanger/integrin-beta4;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2874.33	34	chr14	70167270	.	C	T	2874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.38;DP=816;ExcessHet=0;FS=3.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=0.543;SOR=0.972	GT:AD:DP:GQ:PL	0/1:81,89:170:99:2888,0,2036	18	0	1	0
chr14	74723299	74723299	T	C	exonic	FCF1	.	nonsynonymous SNV	FCF1:NM_001318508:exon5:c.T284C:p.M95T,FCF1:NM_015962:exon5:c.T320C:p.M107T	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	.	0.0034	0.00299521	0.0032	0.0009	0.0035	0	0.0002	0.0038	0.0088	0.0042	0.0029883	462	154602	rs41309250	0.0033	0.0033	0.0031	0.0034	0.0227	0.0032	0.0031	0.0196	0.0184	0.0013	0.0037	0.0126	2.521e-05	0.0004	0.0227	0.0031	0.0043	0.0041	0.0026	0.0026	0.0026	0.0026	0.0041	0.0024	0.0023	0.0032	0.0030	0.0008	0.0022	0.0041	0.0164	0.0002	0.0002	0.0136	0.0030	0.0028	0.0041	0.001	0.78490	D	0.003	0.76473	D	0.578	0.38765	P	0.491	0.47360	P	0.000000	0.84330	D	0.034297	1	0.81001	D	4.105	0.97342	H	.	.	.	-4.38	0.77143	D	0.916	0.92433	0.000	0.82260	D	0.352	0.71565	T	9	0.014035612	0.00296	T	.	.	.	0.808	0.93777	.	.	0.554445276056	0.55104	0.8675315858643416	0.86718	0.352378940798	0.37072	0.92011320591	0.98333	D	0.341867	0.71071	T	0.170674	0.71186	D	0.472104	0.94055	D	0.0934561144212712	0.11621	T	0.824718	0.48674	T	0.69187886	0.77613	0.7310421	0.84107	0.69187886	0.77614	0.7310421	0.84108	-11.527	0.82471	D	.	.	0.684	0.87281	P	.;.;.;.	.;.;.;.	4.478352	0.69849	25.4	0.99389570068138555	0.62292	0.99038	0.90319	D	AEFBI	0.867479	0.78727	D	0.639598692048625	0.75696	6.352053	0.683779533525843	0.81146	7.45933	0.999999999956945	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	7.581000	0.81826	7.718000	0.67175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:0.0:1.0	16.609	0.84711	633	0.64743	.;PIN domain|rRNA-processing protein Fcf1, PIN domain;PIN domain|rRNA-processing protein Fcf1, PIN domain;PIN domain|rRNA-processing protein Fcf1, PIN 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	0.019737	0.015306	0.020380	0.049708	0.000000	0.008621	0.012346	0.003817	0.05263	2893.83	34	chr14	74723299	.	T	C	2893.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.291;DP=837;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.959;SOR=0.721	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1591,0,1393	17	0	2	0
chr14	74781778	74781778	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1735G:p.P579A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0198110276327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	0.0002	4.108e-06	1.382e-06	3.62e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.62e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.078	0.50514	T	.	.	.	.	.	.	.	.	.	.	0.999918	0.81001	D	.	.	.	.	.	.	-1.59	0.38345	N	0.4	0.45237	-0.6378	0.63239	T	0.351	0.71462	T	8	0.25861296	0.43289	T	0.019811	0.42265	T	0.176	0.44373	0.315	0.29096	0.110392049598	0.10638	0.3113116681727129	0.31044	0.108738436801	0.12267	0.763889551163	0.76510	T	0.017928	0.14543	T	-0.0710243	0.41164	T	-0.339798	0.40367	T	0.417973161023554	0.29615	T	0.806719	0.45571	T	0.11252477	0.26582	0.244229	0.49884	0.11252477	0.26582	0.244229	0.49883	-8.122	0.61899	D	.	.	0.158	0.34840	B	.;.	.;.	2.502066	0.32303	19.00	0.9838911524607169	0.40936	0.99479	0.96535	D	AEFGBI	0.614150	0.60158	D	0.618526765893469	0.74345	6.117236	0.650981732843165	0.78684	6.925852	0.999999999999985	0.74766	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	1.669000	0.37108	5.846000	0.50293	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	19.866	0.96800	598	0.68232	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	133.47	34	chr14	74781778	.	C	G	133.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.956;DP=1954;ExcessHet=0.119;FS=161.502;InbreedingCoeff=-0.2258;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.74;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,32:133:72:.:.:72,0,2825:.	7	0	2	10
chr14	74863732	74863732	C	T	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001080408:exon3:c.G103A:p.D35N,PROX2:NM_001243007:exon3:c.G103A:p.D35N,PROX2:NM_001384314:exon4:c.G103A:p.D35N	.	8	1465	48	1	0	50	0.0167785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0015	0.0081869	0.0042	0.0002	0.0025	0	0.0003	0.0030	0.0064	0.0260	0.0039003	603	154602	rs180960227	0.0030	0.0031	0.0024	0.0036	0.0277	0.0029	0.0029	0.0240	0.0232	0.0005	0.0022	0.0188	5.103e-05	0.0002	0.0277	0.0014	0.0048	0.0246	0.0028	0.0028	0.0025	0.0031	0.0307	0.0026	0.0025	0.0267	0.0251	0.0003	0	0.0025	0.0205	0	9.413e-05	0.0102	0.0021	0.0028	0.0307	0.068	0.37750	T	0.043	0.49942	D	0.0	0.02946	B	0.001	0.04355	B	0.338976	0.04176	N	1.430780	1	0.08975	N	0.69	0.16971	N	0.96	0.42888	T	0.15	0.05310	N	0.074	0.05414	-1.0060	0.28156	T	0.041	0.17742	T	10	0.0030384362	0.00050	T	.	.	.	0.068	0.19811	.	.	0.0806252709748	0.07271	0.11674413745717793	0.11602	0.0477391704432	0.05209	0.295686364174	0.09760	T	0.004913	0.04332	T	-0.733045	0.00023	T	-0.806148	0.01753	T	0.0037572367142395	0.00040	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	-4.183	0.26505	T	.	.	0.100	0.17103	B	.;.	.;.	1.610506	0.20578	14.81	0.99037930992716072	0.50962	0.11356	0.16580	N	AEFDI	0.065554	0.12793	N	-0.668780823610627	0.16916	0.8660086	-0.729438421252094	0.16230	0.857553	0.998840203693113	0.37800	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	1.79	0.23992	-0.021000	0.12445	0.693000	0.20782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6397:0.0:0.3603	6.912	0.23520	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.010870	0.038012	0.000000	0.008621	0.009146	0.026515	0.02632	1872.33	33	chr14	74863732	.	C	T	1872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.45;SOR=0.703	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1886,0,1701	18	0	1	0
chr14	74909984	74909984	C	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370252:exon7:c.G829A:p.A277T,RPS6KL1:NM_001370253:exon8:c.G784A:p.A262T,RPS6KL1:NM_031464:exon8:c.G829A:p.A277T	.	415	1072	34	1	0	36	0.0165138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00638978	0.0047	0.0002	0.0024	0.0001	0.0002	0.0034	0.0067	0.0188	0.0042496	657	154602	rs148670608	0.0029	0.0029	0.0024	0.0034	0.0274	0.0028	0.0028	0.0239	0.0226	0.0004	0.0024	0.0187	0.0004	0.0002	0.0274	0.0014	0.0043	0.0182	0.0026	0.0026	0.0024	0.0027	0.0224	0.0023	0.0023	0.0190	0.0177	0.0004	0	0.0024	0.0205	0.0006	9.434e-05	0.0102	0.0021	0.0028	0.0224	0.126	0.27194	T	0.579	0.08535	T	0.002	0.09854	B	0.001	0.04355	B	0.473879	0.04941	N	1.302770	1	0.08975	N	0.55	0.14455	N	0.32	0.58468	T	-0.95	0.25332	N	0.092	0.08227	-1.0221	0.23031	T	0.103	0.37869	T	10	0.0029692352	0.00048	T	.	.	.	0.015	0.02232	.	.	0.506006782367	0.50240	0.16706468169507002	0.16626	0.159674078061	0.18017	0.290036141872	0.08927	T	0.002076	0.01480	T	-0.641258	0.00082	T	-0.678963	0.07047	T	0.00194524139961261	0.00020	T	0.346465	0.07620	T	0.027767	0.02015	0.039660048	0.04111	0.027767	0.02015	0.039660048	0.04111	-3.636	0.18379	T	.	.	0.065	0.01884	B	.;.;.	.;.;.	-0.279271	0.02708	0.355	0.62731164246453697	0.07038	0.07838	0.13831	N	AEFDBI	0.087683	0.17779	N	-1.18298548075412	0.05257	0.239226	-1.16460723848425	0.06510	0.313568	0.997888244719528	0.36150	0.660377	0.49826	0	0.588066	0.40923	0	0.645312	0.48771	0	0.592323	0.36904	0	.	.	5.4	1.18	0.20058	-1.426000	0.02550	0.009000	0.13411	-1.700000	0.00758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0925:0.3138:0.4448:0.1489	3.758	0.08116	623	0.65786	Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.010870	0.035088	0.000000	0.017241	0.009146	0.022727	0.02632	569.33	33	chr14	74909984	.	C	T	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=738;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-0.772;SOR=1.161	GT:AD:DP:GQ:PL	0/1:56,25:81:99:583,0,1440	18	0	1	0
chr14	88665445	88665445	C	T	exonic	EML5	.	nonsynonymous SNV	EML5:NM_001385116:exon22:c.G3169A:p.V1057I,EML5:NM_183387:exon22:c.G3169A:p.V1057I	.	.	.	.	.	.	.	.	.	.	.	2763469	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.015668943788	.	.	3.317e-05	0	0	0	0	4.5e-05	0.0011	0	2.59e-05	4	154602	rs779543531	7.115e-05	7.251e-05	7.487e-05	6.739e-05	8.724e-05	5.981e-05	5.589e-05	7.311e-05	6.722e-05	0	6.708e-05	0	0	0	0	8.724e-05	3.313e-05	2.319e-05	4.599e-05	4.596e-05	3.854e-05	5.38e-05	5.879e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	4.826e-05	0	0	0	0	9.418e-05	0	5.879e-05	0	0	0.114	0.28900	T	0.091	0.40110	T	0.928	0.77913	P	0.556	0.81110	P	0.000001	0.84330	D	0.000000	0.999988	0.54805	D	1.72	0.44442	L	0.92	0.44461	T	-0.68	0.19509	N	0.658	0.66787	-0.8608	0.51205	T	0.217	0.57928	T	10	0.5751962	0.65540	D	0.015669	0.36531	T	0.105	0.29889	.	.	0.380223377699	0.37629	.	.	0.763082505257	0.64369	0.598352015018	0.52672	T	0.029958	0.21349	T	-0.193942	0.21683	T	-0.324678	0.42059	T	0.381060987710953	0.28223	T	0.884911	0.60954	D	0.16576341	0.36868	0.1695122	0.38990	0.16576341	0.36868	0.1695122	0.38990	-3.999	0.25216	T	.	.	0.106	0.19760	B	.;.	.;.	4.615312	0.73231	26.0	0.99833373676942005	0.91456	0.97855	0.77635	D	AEFI	0.859196	0.77682	D	0.66313768868708	0.77221	6.63332	0.697245951712862	0.82169	7.701057	0.999999834826819	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	7.568000	0.81546	4.847000	0.45339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.981	0.92733	797	0.45241	.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	973.33	33	chr14	88665445	.	C	T	973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=707;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.909;SOR=0.441	GT:AD:DP:GQ:PL	0/1:35,36:71:99:987,0,783	18	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:76,60:136:99:1088,0,1255	1	0	17	1
chr14	94498021	94498021	T	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.A377C:p.K126T,SERPINA12:NM_001382267:exon2:c.A377C:p.K126T,SERPINA12:NM_173850:exon3:c.A377C:p.K126T	.	.	.	.	.	.	.	.	.	.	.	2198982	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0166069173655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1056703619	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.597e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.363	0.11807	T	0.411	0.14500	T	0.004	0.12183	B	0.02	0.19048	B	0.061263	0.02143	N	1.948280	1	0.08975	N	0.165	0.08973	N	-1.85	0.84267	D	-0.64	0.18670	N	0.166	0.17553	-0.8112	0.54478	T	0.259	0.62988	T	10	0.05366823	0.05593	T	0.016607	0.37948	T	0.205	0.49236	0.517	0.61763	0.20549828249	0.20151	0.14959693696939688	0.14881	0.0286366123003	0.02943	0.219514638186	0.01282	T	0.040204	0.25449	T	-0.135591	0.30593	T	-0.432543	0.29646	T	0.0607323903854321	0.07283	T	0.318368	0.06377	T	0.24082002	0.46989	0.047973096	0.07027	0.24082002	0.46989	0.047973096	0.07026	-3.011	0.10300	T	.	.	0.091	0.14339	B	.;.	.;.	0.116360	0.05149	1.670	0.96133854143222974	0.28814	0.08001	0.13981	N	AEFDCI	0.095448	0.19284	N	-1.23221119113233	0.04539	0.2050876	-1.22455930454425	0.05518	0.2631081	0.835262911938697	0.24766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	-2.12	0.06766	-0.806000	0.04632	-0.198000	0.10972	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1499:0.179:0.1549:0.5162	2.394	0.04118	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2814.33	47	chr14	94498021	.	T	G	2814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.792;DP=1011;ExcessHet=0;FS=4.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.09;SOR=0.699	GT:AD:DP:GQ:PL	0/1:102,113:215:99:2828,0,2977	18	0	1	0
chr14	94564002	94564002	G	A	exonic	SERPINA4	.	nonsynonymous SNV	SERPINA4:NM_001289032:exon2:c.G631A:p.D211N,SERPINA4:NM_001289033:exon2:c.G520A:p.D174N,SERPINA4:NM_006215:exon2:c.G520A:p.D174N	.	.	.	.	.	.	.	.	.	.	.	2198983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0231216518306	.	0.000199681	8.237e-06	9.61e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs550133117	4.105e-06	4.104e-06	4.084e-06	4.126e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.791	0.04181	T	0.217	0.30183	B	0.119	0.32162	B	0.056515	0.22555	N	0.363396	1	0.25520	N	0.785	0.19527	N	-1.69	0.82985	D	-1.04	0.27259	N	0.032	0.00825	-0.8674	0.50724	T	0.271	0.64308	T	10	0.085470796	0.14432	T	0.023122	0.46062	T	0.200	0.48430	0.501	0.59304	0.739289437723	0.73695	0.1608678814389949	0.16007	0.0677330139699	0.07574	0.336840867996	0.15964	T	0.218237	0.58090	T	-0.336578	0.05629	T	-0.53972	0.18323	T	0.0995960086584091	0.12313	T	0.492951	0.15215	T	0.05341044	0.10104	0.029635688	0.01324	0.05341044	0.10104	0.029635688	0.01323	-4.299	0.28163	T	.	.	0.107	0.20157	B	.;.;.	.;.;.	0.671255	0.10395	7.121	0.96901560096837547	0.31539	0.21766	0.21517	N	AEFDBCI	0.749036	0.69060	D	-0.88776148089463	0.11132	0.535624	-0.84949661750038	0.13299	0.6891667	0.992852722673434	0.32993	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.41	2.58	0.30011	1.855000	0.39018	-2.385000	0.03820	-0.106000	0.15538	0.117000	0.23121	0.000000	0.08366	0.002000	0.04165	0.4035:0.0:0.5965:0.0	6.488	0.21298	846	0.36215	Serpin domain|Serpin domain;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	.	.	.	.	.	.	.	.	0.02632	3386.33	38	chr14	94564002	.	G	A	3386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=939;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.081;SOR=0.723	GT:AD:DP:GQ:PL	0/1:133,135:268:99:3400,0,3003	18	0	1	0
chr14	95221756	95221756	A	C	exonic	CLMN	.	nonsynonymous SNV	CLMN:NM_024734:exon4:c.T259G:p.S87A	.	430	1091	1	0	0	1	0.000458085	.	.	.	2377338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.0368872147134	.	.	3.298e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs756412157	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	2.995e-05	2.038e-05	5.974e-05	0	0	0	0	0.0002	5.396e-06	3.312e-05	6.957e-05	6.567e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.105	0.38016	T	1.0	0.90584	D	0.992	0.80445	D	0.003557	0.34793	N	0.000000	0.997908	0.44305	D	1.1	0.28011	L	0.19	0.60236	T	-1.88	0.43906	N	0.679	0.68603	-0.5382	0.67232	T	0.234	0.60112	T	10	0.5656942	0.65037	D	0.036887	0.57273	D	0.406	0.71869	0.61	0.74300	0.812916816524	0.81116	0.2946995040472106	0.29382	0.494870314576	0.48037	0.566336810589	0.48161	T	0.477583	0.82495	T	-0.0962263	0.37050	T	-0.173345	0.57136	T	0.539857089519501	0.34098	D	0.824718	0.48720	T	0.1276602	0.29866	0.12917846	0.31066	0.1276602	0.29866	0.12917846	0.31065	-9.35	0.69921	D	.	.	0.342	0.56038	A	.;.;.	.;.;.	4.670838	0.74647	26.2	0.99262581176382059	0.57255	0.98624	0.84831	D	AEFBIJ	0.886748	0.81841	D	0.574387460544338	0.71580	5.672383	0.610377699474355	0.75691	6.355807	0.999999999978164	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.675528	0.61593	0	0.668105	0.65232	0	.	.	5.19	5.19	0.71428	8.187000	0.89659	11.052000	0.85313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.365000	0.25999	1.0:0.0:0.0:0.0	15.378	0.74348	957	0.09725	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07895	2979.77	33	chr14	95221756	.	A	C	2979.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.677;DP=766;ExcessHet=0;FS=0.646;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=-1.522;SOR=0.595	GT:AD:DP:GQ:PL	0/1:50,34:84:99:708,0,1286	17	1	1	0
chr14	104944556	104944556	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10595T:p.T3532I,AHNAK2:NM_138420:exon7:c.C10895T:p.T3632I	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0130735102392	0.0002	0.000399361	0.0002	0	0.0007	0	0	0.0003	0	0.0001	0.0002329	36	154602	rs202237811	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	8.963e-05	0.0004	0	0	0	0.0026	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0006	9.765e-05	8.276e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0034	0.0002	0	0.0006	0.175	0.22400	T	0.245	0.24054	T	0.358	0.33818	B	0.11	0.31460	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	5.86	0.00639	T	-1.03	0.27052	N	0.14	0.13911	-0.9405	0.42536	T	0.004	0.01159	T	9	0.016932905	0.00359	T	0.013074	0.32181	T	0.033	0.08068	.	.	0.0401082797425	0.02173	0.010944020111439067	0.01055	.	.	0.2281909585	0.01836	T	0.02077	0.16293	T	-0.517433	0.00455	T	-0.633861	0.10123	T	0.0228993454467245	0.01012	T	0.486851	0.14885	T	0.038488995	0.05137	0.03578337	0.02895	0.038488995	0.05137	0.03578337	0.02895	-8.278	0.62949	D	.	.	0.159	0.35098	B	.	.	1.511782	0.19420	14.25	0.81535265342177599	0.13733	0.03752	0.09057	N	AEFBI	.	.	.	-0.670152928697176	0.16876	0.8636414	-0.789697700629114	0.14747	0.7721846	1.37143271644235E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.11	1.88	0.24630	-0.110000	0.10794	-9.866000	0.00767	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1073:0.0:0.5615:0.3313	5.857	0.17976	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5463.33	266	chr14	104944556	.	G	A	5463.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=5537;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.7;SOR=0.704	GT:AD:DP:GQ:PL	0/1:240,206:446:99:5477,0,6547	18	0	1	0
chr14	104949912	104949912	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5239C:p.D1747H,AHNAK2:NM_138420:exon7:c.G5539C:p.D1847H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0145780778284	.	.	3.358e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs778258861	8.318e-06	1.034e-05	5.519e-06	1.114e-05	0.0002	4.44e-06	3.5e-06	4.908e-05	3.165e-05	6.005e-05	0	0	0.0001	0	0.0002	9.112e-07	0	3.509e-05	4.081e-05	3.996e-05	3.983e-05	4.184e-05	0.0002	1.765e-05	1.162e-05	3.357e-05	1.987e-05	0.0001	0	0	0	0.0002	0	0	0	0.0005	0	0.427	0.09629	T	0.252	0.23570	T	1.0	0.90584	D	0.964	0.71005	D	.	.	.	.	1	0.81001	D	1.5	0.37844	L	4.38	0.02255	T	-1.15	0.29525	N	0.189	0.20660	-1.0657	0.10386	T	0.021	0.09009	T	9	0.17626292	0.32601	T	0.014578	0.34790	T	0.104	0.29647	.	.	0.101711395817	0.09552	0.019053011128951334	0.01859	.	.	0.249059841037	0.03669	T	0.02148	0.16719	T	-0.362985	0.03964	T	-0.577033	0.14811	T	0.11829027181803	0.14262	T	0.756624	0.37993	T	0.13751939	0.31838	0.11984194	0.28925	0.13751939	0.31838	0.11984194	0.28924	-9.067	0.68127	D	.	.	0.321	0.54565	B	.	.	2.211177	0.28211	17.72	0.9604758452470451	0.28552	0.34578	0.25101	N	AEFBI	.	.	.	-0.0280957209580275	0.40586	2.412791	-0.203325002943583	0.31415	1.777762	0.409974317370906	0.20203	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.12	4.12	0.47504	1.589000	0.36253	-0.062000	0.12412	0.548000	0.25860	0.495000	0.26917	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	13.971	0.63752	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	.	.	.	.	.	.	.	.	0.05263	16081.8	661	chr14	104949912	.	C	G	16081.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.92;DP=7093;ExcessHet=0.119;FS=0.525;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.23;MQRankSum=-12.21;QD=16.18;ReadPosRankSum=-0.333;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,200:469:99:0|1:104949898_C_G:7563,0,10647:104949898	17	0	2	0
chr14	104950937	104950937	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4214C:p.V1405A,AHNAK2:NM_138420:exon7:c.T4514C:p.V1505A	.	447	1070	4	1	0	6	0.0027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00571125444378	.	0.00299521	0.0009	0.0040	0.0033	0.0007	0	0.0002	0.0011	0.0012	0.0009702	150	154602	rs201208145	0.0006	0.0011	0.0006	0.0006	0.0043	0.0006	0.0006	0.0037	0.0035	0.0043	0.0021	7.887e-05	0.0007	0.0002	0.0020	0.0004	0.0012	0.0010	0.0020	0.0031	0.0020	0.0019	0.0050	0.0018	0.0017	0.0044	0.0042	0.0050	0	0.0015	0	0.0019	0.0001	0	0.0002	0.0019	0.0012	0.109	0.29288	T	0.11	0.37310	T	0.039	0.21116	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	2.39	0.68882	M	5.46	0.00959	T	-1.71	0.40660	N	0.137	0.13484	-0.9183	0.45783	T	0.004	0.01295	T	9	0.004491329	0.00092	T	0.005711	0.14802	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.004643344942407193	0.00437	.	.	0.252464830875	0.04031	T	0.019876	0.15755	T	-0.569701	0.00222	T	-0.636664	0.09914	T	0.011275037843846	0.00166	T	0.319768	0.06432	T	0.04307916	0.06649	0.037972894	0.03565	0.04307916	0.06649	0.037972894	0.03565	-3.578	0.17539	T	.	.	0.151	0.33412	B	.	.	0.774137	0.11441	8.048	0.92004548075681325	0.21340	0.03024	0.07904	N	AEFBI	.	.	.	-1.03340405883072	0.07917	0.3694327	-1.15566882780084	0.06666	0.3216504	1.63033908453476E-4	0.05721	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.06	-2.23	0.06539	0.776000	0.26365	-4.395000	0.02179	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.456:0.1544:0.3895:0.0	5.411	0.15649	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	0.000571	0.000000	0.000000	0.004310	0.000000	0.000000	0.000000	0.000000	0.05263	1014.83	70	chr14	104950937	.	A	G	1014.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.61;DP=2663;ExcessHet=0.119;FS=17.074;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=43.2;MQRankSum=-3.291;QD=8.6;ReadPosRankSum=-0.58;SOR=3.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,21:52:99:0|1:104950933_A_T:785,0,1236:104950933	17	0	2	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.05263	5125.83	91	chr14	104953797	.	C	T	5125.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.09;DP=1762;ExcessHet=0.119;FS=1.733;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.913;SOR=0.833	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2387,0,2665	17	0	2	0
chr14	105219298	105219298	G	A	exonic	BRF1	.	nonsynonymous SNV	BRF1:NM_001242786:exon13:c.C1033T:p.R345C	Cerebellofaciodental syndrome, Autosomal recessive	.	.	.	.	.	.	.	0	0.018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	.	0.000399361	4.678e-05	0.0001	0	0	0	5.053e-05	0.0013	0	5.82e-05	9	154602	rs587686408	4.301e-05	4.857e-05	4.669e-05	3.924e-05	0.0004	3.424e-05	3.108e-05	6.303e-05	3.534e-05	3.023e-05	0	0	0	0	0.0004	5.009e-05	3.365e-05	2.339e-05	6.563e-05	6.561e-05	5.138e-05	8.052e-05	0.0002	3.513e-05	2.613e-05	1.972e-05	1.124e-05	7.213e-05	0	6.534e-05	0	0.0002	0	0	5.879e-05	0.0005	0	0.044	0.41096	D	0.178	0.29639	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.11	0.08653	N	0.195	0.21449	-1.0247	0.22181	T	0.033	0.14334	T	7	0.025126696	0.00717	T	0.002945	0.06250	T	0.062	0.17934	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.528089	0.00394	T	-0.759671	0.03125	T	0.0111255795852281	0.00162	T	0.371663	0.08799	T	.	.	.	.	.	.	.	.	-3.998	0.23774	T	.	.	0.142	0.31151	B	.	.	-0.001499	0.04273	1.065	0.98244658251973715	0.39512	0.00277	0.01499	N	AEFBI	0.046703	0.07786	N	-1.62331855751688	0.01153	0.05008329	-1.72726384173151	0.01022	0.04582787	0.988963465516191	0.31682	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	2.01	-4.03	0.03752	-0.563000	0.06034	.	.	-0.194000	0.09177	0.000000	0.06391	.	.	0.000000	0.00833	0.2035:0.0:0.5111:0.2854	4.424	0.10920	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1962.83	33	chr14	105219298	.	G	A	1962.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.184;DP=736;ExcessHet=0.119;FS=8.966;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.652;SOR=0.255	GT:AD:DP:GQ:PL	0/1:30,29:59:99:739,0,953	17	0	2	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,5:48:99:.:.:101,0,1753:.	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,5:48:99:.:.:101,0,1753:.	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,5:48:99:.:.:101,0,1753:.	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,5:48:99:.:.:101,0,1753:.	4	0	15	0
chr15	20536401	20536401	G	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon7:c.C685G:p.Q229E	.	611	860	46	5	0	56	0.0315315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00125694464534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458486201	0.0079	0.0074	0.0076	0.0082	0.0382	0.0078	0.0077	0.0331	0.0311	0.0019	0.0161	0.0452	3.522e-05	0.0024	0.0382	0.0070	0.0131	0.0079	0.0122	0.0096	0.0120	0.0123	0.0362	0.0115	0.0113	0.0322	0.0307	0.0022	0.0019	0.0362	0.0658	0	0.0025	0.0330	0.0126	0.0347	0.0083	.	.	.	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	-1.0112	0.26541	T	0.023	0.09741	T	8	0.00540784	0.00119	T	0.001257	0.01708	T	.	.	.	.	0.0138822411134	0.00435	0.0049867945419221	0.00470	.	.	0.586864173412	0.51052	T	0.014193	0.12131	T	-0.237202	0.15708	T	-0.578501	0.14679	T	0.262614488601685	0.23428	T	0.546045	0.18695	T	0.16264509	0.36354	0.16305888	0.37845	0.16264509	0.36353	0.16305888	0.37844	-6.442	0.49836	T	.	.	0.110	0.21315	B	.	.	1.753451	0.22303	15.57	0.67537901567902892	0.08385	0.09628	0.15341	N	AEFI	0.050648	0.08872	N	-0.628359280263332	0.18096	0.9367552	-0.808476766559945	0.14290	0.7459121	1.09775152741156E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	1.635000	0.36747	3.018000	0.35990	0.345000	0.19837	0.971000	0.34370	0.996000	0.32793	0.008000	0.08271	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	2312.79	20	chr15	20536401	.	G	C	2312.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.585;DP=823;ExcessHet=0.3672;FS=3.284;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.94;MQRankSum=1.57;QD=7.79;ReadPosRankSum=1.26;SOR=0.892	GT:AD:DP:GQ:PL	0/1:52,30:82:99:591,0,1337	16	0	3	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3054,283,0	0	13	3	3
chr15	23327336	23327336	-	C	exonic	LOC102723623	.	frameshift insertion	LOC102723623:NM_001382446:exon8:c.1530dupG:p.Q511Afs*97	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.998e-05	0.0010	0.0001	5.968e-05	0.0001	6.464e-05	5.934e-05	6.624e-05	5.932e-05	5.072e-05	0.0001	4.949e-05	0	8.361e-05	0	8.46e-05	9.905e-05	6.178e-05	7.077e-05	0.0013	9.121e-05	4.887e-05	0.0001	3.038e-05	2.066e-05	4.754e-05	3.063e-05	0	0	0	0	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	32.55	16	chr15	23327336	.	G	GC	32.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.915;DP=332;ExcessHet=0;FS=0;InbreedingCoeff=0.0018;MLEAC=1;MLEAF=0.029;MQ=51.91;MQRankSum=-0.81;QD=2.17;ReadPosRankSum=1.46;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:23327336_G_GC:45,0,540:23327336	16	0	1	2
chr15	23327340	23327340	-	A	exonic	LOC102723623	.	frameshift insertion	LOC102723623:NM_001382446:exon8:c.1526_1527insT:p.E510Gfs*98	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	0.0010	0.0001	4.947e-05	0.0001	6.133e-05	5.637e-05	6.274e-05	5.67e-05	5.324e-05	0.0001	5.044e-05	2.96e-05	8.515e-05	0	8.12e-05	7.578e-05	4.71e-05	8.384e-05	0.0014	6.962e-05	9.9e-05	0.0001	3.876e-05	2.733e-05	4.788e-05	3.086e-05	5.283e-05	0	0	0	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	32.55	16	chr15	23327340	.	C	CA	32.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.506;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=0.0018;MLEAC=1;MLEAF=0.029;MQ=51.91;MQRankSum=-0.81;QD=2.17;ReadPosRankSum=0.936;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:23327336_G_GC:45,0,540:23327336	16	0	1	2
chr15	23327342	23327343	GT	-	exonic	LOC102723623	.	frameshift deletion	LOC102723623:NM_001382446:exon8:c.1524_1525del:p.I508Mfs*99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.781e-05	0.0010	0.0001	7.022e-05	0.0002	7.19e-05	6.564e-05	7.304e-05	6.021e-05	5.344e-05	0.0002	5.1e-05	2.967e-05	8.65e-05	0	8.517e-05	7.641e-05	0.0001	7.075e-05	0.0013	6.849e-05	7.316e-05	9.675e-05	3.037e-05	2.065e-05	3.255e-05	1.918e-05	5.119e-05	0	0	0	0	0.0002	0	9.675e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	32.67	16	chr15	23327341	.	CGT	C	32.67	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.506;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0063;MLEAC=1;MLEAF=0.029;MQ=51.91;MQRankSum=-0.81;QD=2.18;ReadPosRankSum=0.936;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:23327336_G_GC:45,0,540:23327336	16	0	1	2
chr15	23327342	23327363	GTATCTTCTCCTCCTGCTCCCT	0	exonic	LOC102723623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	71.93	16	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	*	71.93	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.747;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=0.5188;MLEAC=1;MLEAF=0.029;MQ=44.78;MQRankSum=-2.233;QD=4.23;ReadPosRankSum=0.779;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:23327336_G_GC:45,0,540:23327336	16	0	1	2
chr15	23327345	23327345	T	C	exonic	LOC102723623	.	nonsynonymous SNV	LOC102723623:NM_001382446:exon8:c.A1522G:p.I508V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.899e-05	0.0006	5.949e-05	3.89e-05	6.694e-05	3.667e-05	3.251e-05	3.963e-05	3.497e-05	5.32e-05	6.694e-05	5.128e-05	0	0	0	5.509e-05	5.121e-05	3.223e-05	7.158e-05	0.0011	9.212e-05	4.95e-05	9.821e-05	3.067e-05	2.085e-05	3.289e-05	1.941e-05	5.134e-05	0	0	0	0	0.0002	0	9.821e-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	.	.	.	.	.	.	.	.	0.03125	33.26	18	chr15	23327345	.	T	C	33.26	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.764;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=0.4332;MLEAC=1;MLEAF=0.031;MQ=51.91;MQRankSum=-0.81;QD=1.96;ReadPosRankSum=0.596;SOR=0.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:23327336_G_GC:45,0,540:23327336	15	0	1	3
chr15	23327391	23327391	C	A	exonic	LOC102723623	.	nonsynonymous SNV	LOC102723623:NM_001382446:exon8:c.G1476T:p.E492D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200324602	0.0001	0.0013	0.0001	0.0001	0.0002	8.28e-05	7.483e-05	6.723e-05	5.726e-05	0.0002	0.0002	0.0001	6.467e-05	0.0001	0	9.536e-05	7.791e-05	0.0001	1.678e-05	0.0009	3.248e-05	0	7.225e-05	0	0	.	.	7.225e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	66.85	19	chr15	23327391	.	C	A	66.85	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-0.904;DP=304;ExcessHet=0;FS=0;InbreedingCoeff=-0.0467;MLEAC=1;MLEAF=0.033;MQ=51.94;MQRankSum=-1.088;QD=5.57;ReadPosRankSum=-1.269;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:23327336_G_GC:54,0,414:23327336	14	0	1	4
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,73:142:99:.:.:5488,2351,2755:.	0	0	19	0
chr15	23645669	23645669	C	T	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.G2074A:p.V692I	Schaaf-Yang syndrome, Autosomal dominant	1	1471	46	4	0	54	0.018024	.	.	.	190564	not_provided|Prader-Willi_syndrome|Schaaf-Yang_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008300,MedGen:C0032897,OMIM:176270,Orphanet:739|MONDO:MONDO:0014243,MedGen:C5575066,OMIM:615547,Orphanet:398069|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0012	0.00419329	0.0054	0.0006	0.0014	0.0002	0	0.0032	0.0117	0.0324	0.0033829	523	154602	rs200926181	0.0033	0.0034	0.0028	0.0038	0.0201	0.0032	0.0032	0.0193	0.0189	0.0005	0.0011	0.0037	0.0001	1.981e-05	0.0094	0.0025	0.0039	0.0201	0.0020	0.0020	0.0018	0.0023	0.0193	0.0019	0.0018	0.0161	0.0149	0.0004	0	0.0007	0.0055	0	0	0.0034	0.0025	0.0019	0.0193	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.003316313	0.00057	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.11124448204977332	0.11053	0.05440095498	0.06016	0.510307192802	0.40265	T	0.04594	0.27275	T	-0.717938	0.00028	T	-0.787788	0.02226	T	.	.	.	0.440756	0.12177	T	0.014713494	0.00105	0.041571822	0.04755	0.016205389	0.00182	0.028322473	0.01058	-4.396	0.29503	T	.	.	0.09	0.12607	B	.;.	.;.	0.107297	0.05076	1.614	0.96116436994406906	0.28760	0.08880	0.14741	N	AEFDBHCI	0.045935	0.07571	N	.	.	.	.	.	.	0.825701949765922	0.24603	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	3.54	1.35	0.21078	0.387000	0.20445	-0.640000	0.08082	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3088:0.4742:0.0:0.2171	2.066	0.03384	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	1	0	0	0	0	1	0	0.005572	0.000000	0.006849	0.000000	0.000000	0.000000	0.006135	0.007634	0.05263	3957.83	43	chr15	23645669	.	C	T	3957.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.15;DP=976;ExcessHet=0.119;FS=7.262;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.767;SOR=0.585	GT:AD:DP:GQ:PL	0/1:67,71:138:99:1972,0,1812	17	0	2	0
chr15	23646358	23646378	GGGGCCTGGCGGATCACGGGT	-	exonic	MAGEL2	.	nonframeshift deletion	MAGEL2:NM_019066:exon1:c.1365_1385del:p.P456_P462del	Schaaf-Yang syndrome, Autosomal dominant	1	219	6	0	0	6	0.0135135	.	.	.	190568	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0041	3.84e-05	1	26028	rs1369621653	0.0014	0.0013	0.0010	0.0018	0.0132	0.0013	0.0013	0.0124	0.0121	0.0003	0.0012	0.0031	0.0005	0.0002	0.0044	0.0008	0.0022	0.0132	0.0021	0.0021	0.0018	0.0023	0.0201	0.0019	0.0018	0.0167	0.0155	0.0004	0	0.0007	0.0051	0.0013	0	0.0039	0.0024	0.0020	0.0201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2648.79	70	chr15	23646357	.	GGGGGCCTGGCGGATCACGGGT	G	2648.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.48;DP=1007;ExcessHet=0.119;FS=3.311;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.249;SOR=0.714	GT:AD:DP:GQ:PL	0/1:75,46:121:99:1451,0,2864	17	0	2	0
chr15	30145036	30145036	G	A	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon17:c.G1544A:p.G515E	.	249	1272	1	0	0	1	0.000392927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00444865462918	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319959741	1.129e-05	7.884e-06	1.455e-05	8.104e-06	1.359e-05	6.06e-06	4.43e-06	6.87e-06	5.01e-06	0	0	5.315e-05	0	0	0	1.359e-05	0	0	2.67e-05	1.542e-05	5.015e-05	0	4.644e-05	4.43e-06	1.66e-06	7.7e-06	2.88e-06	0	0	0	0	0	0	0	4.644e-05	0	0	0.124	0.27426	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	0.08898	T	-2.94	0.61435	D	0.284	0.32148	.	.	.	.	.	.	.	0.431943	0.57548	T	0.004449	0.10906	T	.	.	.	.	0.723893953802	0.72145	0.2119452817309904	0.21110	3.4135721607	0.99707	.	.	.	.	.	.	-0.187483	0.22628	T	-0.507083	0.21615	T	.	.	.	.	.	.	0.18784547	0.40257	0.20627046	0.44834	0.18784547	0.40257	0.20627046	0.44833	-3.892	0.22182	T	.	.	0.191	0.40952	B	.	.	2.233577	0.28512	17.82	0.73301078209160153	0.10278	0.90697	0.52091	D	AEFI	0.676533	0.64154	D	.	.	.	.	.	.	0.00335484155542011	0.10072	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	1.48	0.21900	7.256000	0.77768	5.185000	0.47878	0.215000	0.18024	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	8.924	0.34792	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	392.73	37	chr15	30145036	.	G	A	392.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.33;DP=539;ExcessHet=0;FS=5.05;InbreedingCoeff=-0.0295;MLEAC=1;MLEAF=0.028;MQ=33.22;MQRankSum=-0.285;QD=9.13;ReadPosRankSum=0.88;SOR=0.223	GT:AD:DP:GQ:PL	0/1:27,16:43:99:406,0,776	17	0	1	1
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	247.85	118	chr15	43021291	.	A	G	247.85	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.978;DP=1871;ExcessHet=1.3;FS=121.683;InbreedingCoeff=-0.1377;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.139;SOR=11.592	GT:AD:DP:GQ:PL	0/1:105,29:134:3:3,0,2091	14	0	5	0
chr15	49897369	49897369	A	G	exonic	ATP8B4	.	nonsynonymous SNV	ATP8B4:NM_024837:exon23:c.T2620C:p.C874R	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	0.0063	0.00459265	0.0057	0.0107	0.0036	0	0.0009	0.0048	0.0066	0.0123	0.0053233	823	154602	rs74012834	0.0051	0.0051	0.0048	0.0053	0.0172	0.0050	0.0049	0.0144	0.0134	0.0113	0.0033	0.0141	2.519e-05	0.0011	0.0172	0.0044	0.0066	0.0126	0.0062	0.0062	0.0063	0.0061	0.0122	0.0058	0.0057	0.0098	0.0095	0.0107	0.0033	0.0033	0.0173	0	0.0006	0.0204	0.0044	0.0057	0.0122	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002321	0.36806	N	0.297818	0.999992	0.58761	D	-0.24	0.03895	N	-0.46	0.70014	T	-2.3	0.51157	N	0.494	0.54147	-1.0498	0.14453	T	0.093	0.35498	T	10	0.0073461235	0.00167	T	.	.	.	0.251	0.56024	.	.	0.474876406573	0.47116	0.7498061658044117	0.74927	0.0839836201128	0.09469	0.611285686493	0.54498	T	0.002077	0.01480	T	-0.441836	0.01261	T	-0.397056	0.33727	T	0.00396578209425917	0.00042	T	0.541546	0.18382	T	0.32305837	0.54897	0.31807154	0.57777	0.32305837	0.54897	0.31807154	0.57776	-4.519	0.31136	T	.	.	0.160	0.37024	B	.;.	.;.	1.190218	0.15813	12.12	0.54972148563145007	0.05246	0.18959	0.20471	N	AEFGI	0.226863	0.35075	N	-0.800004472418187	0.13311	0.6547919	-0.688715170324367	0.17242	0.9159305	0.997071151456392	0.35252	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	0.616	0.16789	0.137000	0.15816	1.461000	0.26681	0.756000	0.94297	0.005000	0.17040	0.877000	0.27660	0.997000	0.79791	0.6935:0.0:0.3065:0.0	8.820	0.34182	386	0.83455	P-type ATPase, C-terminal;P-type ATPase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.050505	0.020380	0.040936	0.000000	0.000000	0.006098	0.007576	0.02632	986.33	39	chr15	49897369	.	A	G	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.899;DP=710;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.47;SOR=0.532	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1000,0,1169	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:81,35:126:15:15,0,1962	3	0	13	3
chr15	61882694	61882694	G	C	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon67:c.C9397G:p.R3133G,VPS13C:NM_018080:exon67:c.C9397G:p.R3133G,VPS13C:NM_001018088:exon69:c.C9526G:p.R3176G,VPS13C:NM_020821:exon69:c.C9526G:p.R3176G	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	433	1070	19	0	0	19	0.00880037	.	.	.	726159	VPS13C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0184529955387	0.0018	0.00159744	0.0023	0.0004	0.0004	0	0.0008	0.0025	0.0011	0.0059	0.0021086	326	154602	rs115741196	0.0019	0.0020	0.0018	0.0020	0.0098	0.0019	0.0019	0.0078	0.0070	0.0005	0.0003	0.0005	0	0.0006	0.0098	0.0020	0.0017	0.0049	0.0013	0.0013	0.0014	0.0013	0.0056	0.0012	0.0011	0.0040	0.0034	0.0003	0	0.0003	0.0006	0	0.0005	0.0068	0.0022	0.0014	0.0056	0.376	0.12226	T	.	.	.	0.088	0.27649	B	0.051	0.31370	B	0.303359	0.14559	N	0.699431	1	0.08975	N	2.19	0.61577	M	0.86	0.46777	T	-2.57	0.55821	D	0.442	0.48411	-0.9769	0.35705	T	0.134	0.44817	T	10	0.00571543	0.00127	T	0.018453	0.40518	T	0.145	0.38592	.	.	0.367803931526	0.36392	0.26168657494625236	0.26081	0.0313805794318	0.03254	0.218336567283	0.01216	T	0.034621	0.23393	T	-0.4139	0.01873	T	-0.366086	0.37346	T	0.0198486698404734	0.00687	T	0.90461	0.66442	D	0.10533421	0.24904	0.096900284	0.23042	0.07884427	0.17979	0.07963763	0.17945	-5.463	0.41521	T	0.29386029186188106	0.39068	0.111	0.21466	B	.;.;.;.;.;.	.;.;.;.;.;.	2.974263	0.39654	21.0	0.95853217865136675	0.27997	0.28296	0.23515	N	AEFBI	0.243561	0.36482	N	-0.33754671917259	0.27733	1.523938	-0.312393325887731	0.27698	1.538804	0.00246530857512632	0.09453	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	4.44	0.53164	2.927000	0.48595	4.488000	0.43560	0.618000	0.50648	0.245000	0.24799	1.000000	0.68203	0.953000	0.50222	0.0757:0.0:0.6751:0.2492	8.532	0.32501	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.010101	0.009511	0.008772	0.000000	0.008621	0.000000	0.011364	0.02632	2538.33	33	chr15	61882694	.	G	C	2538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=874;ExcessHet=0;FS=4.375;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.229;SOR=0.963	GT:AD:DP:GQ:PL	0/1:135,107:242:99:2552,0,3122	18	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	465.41	41	chr15	66326260	.	C	G	465.41	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-4.097;DP=1369;ExcessHet=2.0135;FS=270.804;InbreedingCoeff=-0.1865;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.58;SOR=10.26	GT:AD:DP:GQ:PL	0/1:75,21:103:13:13,0,1927	13	0	6	0
chr15	66565275	66565275	A	G	exonic	LCTL	.	nonsynonymous SNV	LCTL:NM_207338:exon2:c.T91C:p.S31P	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00771544143806	0.0026	0.000798722	0.0020	0.0007	0.0025	0	0.0003	0.0027	0.0046	0.0013	0.0020375	315	154602	rs145934236	0.0029	0.0030	0.0031	0.0028	0.0035	0.0029	0.0028	0.0034	0.0034	0.0007	0.0019	0.0012	0	0.0005	0.0007	0.0035	0.0021	0.0009	0.0023	0.0023	0.0026	0.0020	0.0042	0.0021	0.0020	0.0034	0.0031	0.0008	0	0.0042	0.0017	0	0.0004	0	0.0034	0.0047	0.0004	0.103	0.30097	T	0.042	0.50226	D	0.981	0.59675	D	0.69	0.53781	P	0.000115	0.50451	D	0.136880	0.999298	0.81001	D	2.005	0.54552	M	1.56	0.29602	T	-2.17	0.49018	N	0.647	0.65844	-1.0649	0.10572	T	0.043	0.18701	T	10	0.021641314	0.00522	T	0.007715	0.20457	T	0.238	0.54217	.	.	0.408579541211	0.40476	0.6903491323545965	0.68974	0.636576039867	0.57434	0.515846848488	0.41042	T	0.044697	0.26894	T	-0.379344	0.03145	T	-0.315343	0.43083	T	0.0528296065991112	0.05991	T	0.553945	0.19167	T	0.2597715	0.49031	0.50393707	0.71326	0.2597715	0.49031	0.50393707	0.71326	-6.359	0.49188	T	.	.	0.087	0.11027	B	.	.	3.345498	0.46121	22.2	0.99729722507970731	0.82690	0.94718	0.62091	D	AEFGBI	0.480518	0.52220	N	-0.0580743468036519	0.39243	2.311022	-0.0439236066338345	0.37753	2.214861	0.999932691822375	0.46732	0.455138	0.09556	0	0.573888	0.26702	0	0.606884	0.38211	0	0.613276	0.41899	0	.	.	4.59	0.808	0.17861	3.128000	0.50186	2.408000	0.32627	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.993000	0.69303	0.5111:0.1671:0.0:0.3217	4.990	0.13555	688	0.59122	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	781.33	38	chr15	66565275	.	A	G	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=757;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=0.937;SOR=0.787	GT:AD:DP:GQ:PL	0/1:64,36:100:99:795,0,1630	18	0	1	0
chr15	75268808	75268808	C	G	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon14:c.C1513G:p.Q505E	.	560	956	6	0	0	6	0.00312826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00347151280519	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268612532	0.0007	0.0010	0.0007	0.0006	0.0051	0.0006	0.0006	0.0043	0.0040	0.0051	0.0015	0.0003	0.0002	0.0003	0.0008	0.0003	0.0013	0.0011	0.0034	0.0046	0.0033	0.0035	0.0091	0.0030	0.0029	0.0081	0.0076	0.0091	0.0080	0.0017	0	0.0003	0	0	0.0003	0.0033	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.045	0.00177	N	2.29	0.17113	T	1.27	0.00985	N	0.049	0.02088	-0.9411	0.42442	T	0.008	0.02760	T	7	0.007206142	0.00164	T	0.003472	0.07847	T	0.062	0.17934	0.144	0.04746	0.0297737177859	0.01360	0.03881562989276247	0.03827	1.76277912104	0.91153	0.609768509865	0.54282	T	0.002233	0.01633	T	-0.38117	0.03064	T	-0.785301	0.02297	T	0.00660059945505272	0.00074	T	0.20228	0.02325	T	0.15009496	0.34185	0.108748525	0.26201	0.15009496	0.34185	0.108748525	0.26200	-2.742	0.07663	T	.	.	0.057	0.00524	B	.	.	-0.348413	0.02412	0.271	0.53312645524219948	0.04915	0.00790	0.03231	N	AEFI	0.047520	0.08012	N	-1.57150549477047	0.01413	0.06160532	-1.5277700342002	0.02133	0.09763306	2.1187461197363E-4	0.05997	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.454000	0.21539	-1.206000	0.06027	-0.556000	0.04876	0.990000	0.36992	0.000000	0.08366	0.001000	0.02609	.	.	.	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	93.21	20	chr15	75268808	.	C	G	93.21	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.12;DP=262;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.0522;MLEAC=1;MLEAF=0.028;MQ=24.26;MQRankSum=3.07;QD=8.47;ReadPosRankSum=0.976;SOR=1.981	GT:AD:DP:GQ:PL	0/1:6,5:11:99:106,0,123	17	0	1	1
chr15	82238326	82238326	T	C	exonic	EFL1	.	nonsynonymous SNV	EFL1:NM_001040610:exon5:c.A559G:p.I187V,EFL1:NM_001322845:exon7:c.A712G:p.I238V,EFL1:NM_024580:exon7:c.A712G:p.I238V	.	.	.	.	.	.	.	.	.	.	.	754726	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.0207386914164	0.0006	0.000199681	0.0002	0.0027	0	0	0	1.499e-05	0	0	0.0002005	31	154602	rs181043208	5.609e-05	5.609e-05	6.262e-05	4.95e-05	0.0017	4.61e-05	4.236e-05	0.0013	0.0012	0.0017	4.472e-05	0	0	0	0.0002	1.439e-05	9.934e-05	0	0.0005	0.0006	0.0005	0.0006	0.0019	0.0004	0.0004	0.0016	0.0014	0.0019	0	0.0001	0	0	0	0	0	0.0009	0	0.28	0.15509	T	0.422	0.14075	T	0.0	0.02946	B	0.005	0.11217	B	0.097932	0.20004	N	0.379653	0.984267	0.24815	N	.	.	.	-1.02	0.76300	T	-0.29	0.11728	N	0.137	0.16725	-0.9926	0.31933	T	0.191	0.54242	T	10	0.010206193	0.00228	T	0.020739	0.43393	T	0.127	0.34888	.	.	0.241078983079	0.23725	0.283814052145344	0.28294	0.173233558875	0.19515	0.29566514492	0.09756	T	0.004307	0.03719	T	-0.473744	0.00806	T	-0.45758	0.26863	T	0.00229203381977352	0.00024	T	0.69513	0.36121	T	0.031956837	0.03130	0.03756927	0.03437	0.031956837	0.03130	0.03756927	0.03437	-7.922	0.63592	D	0.1672888141420744	0.20850	0.055	0.00647	B	.;.	.;.	0.860522	0.12326	8.869	0.75603666170084827	0.11139	0.08020	0.13998	N	AEFGBI	0.051133	0.09005	N	-1.11178046418057	0.06432	0.2960929	-1.16074998923862	0.06577	0.3170307	0.0100696382498383	0.11960	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.51	-5.73	0.02204	0.055000	0.14112	-0.207000	0.10889	0.607000	0.46521	0.009000	0.18154	0.000000	0.08366	0.993000	0.69303	0.111:0.3712:0.0:0.5178	6.539	0.21570	888	0.27761	Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1955.33	35	chr15	82238326	.	T	C	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.913;DP=877;ExcessHet=0;FS=1.25;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.61;MQRankSum=-0.754;QD=12.14;ReadPosRankSum=-0.854;SOR=0.838	GT:AD:DP:GQ:PL	0/1:82,79:161:99:1969,0,2221	18	0	1	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1896.3	11	chr15	82344942	.	T	*	1896.3	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.09;DP=1700;ExcessHet=5.6323;FS=13.88;InbreedingCoeff=-0.3369;MLEAC=9;MLEAF=0.45;MQ=46.72;MQRankSum=0;QD=2;ReadPosRankSum=1.28;SOR=1.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,26:153:99:.:.:841,0,3807:.	4	1	5	9
chr15	82345004	82345025	ATAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2917	2625.15	3	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACG	*	2625.15	.	AC=7;AF=0.292;AN=24;BaseQRankSum=1.52;DP=1417;ExcessHet=3.7519;FS=10.225;InbreedingCoeff=-0.2602;MLEAC=9;MLEAF=0.375;MQ=46.78;MQRankSum=-7.03;QD=3.01;ReadPosRankSum=0.846;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,54:156:99:.:.:945,0,3155:.	6	1	5	7
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	564.74	17	chr15	82345025	.	G	*	564.74	.	AC=4;AF=0.118;AN=34;BaseQRankSum=2.07;DP=1407;ExcessHet=3.116;FS=20.05;InbreedingCoeff=-0.1871;MLEAC=4;MLEAF=0.118;MQ=44.55;MQRankSum=-0.625;QD=0.92;ReadPosRankSum=-1.64;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,54:156:99:.:.:945,0,3155:.	13	0	4	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	1978.48	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=6;MLEAF=0.158;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,54:156:99:.:.:945,0,3155:.	13	0	6	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,54:156:99:.:.:945,0,3155:.	6	0	12	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,54:156:99:.:.:945,0,3155:.	9	0	10	0
chr15	89330133	89330133	C	G	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon3:c.G803C:p.G268A,POLG:NM_002693:exon3:c.G803C:p.G268A	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	193515	POLG-related_disorder|not_specified|not_provided|Progressive_sclerosing_poliodystrophy|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Mitochondrial_DNA_depletion_syndrome_4b|POLG-Related_Spectrum_Disorders|Hereditary_spastic_paraplegia|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_axonal_type_2U|Tip-toe_gait	MedGen:CN180166|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MedGen:C4763519|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014566,MedGen:C4084821,OMIM:616280,Orphanet:397735|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.967	.	0.0038	0.00279553	0.0035	0.0007	0.0067	0	0.0064	0.0042	0.0089	0.0004	0.0034411	532	154602	rs61752784	0.0040	0.0040	0.0040	0.0039	0.0047	0.0039	0.0039	0.0044	0.0043	0.0006	0.0047	0.0052	0	0.0044	0.0045	0.0045	0.0038	0.0004	0.0035	0.0035	0.0036	0.0035	0.0063	0.0033	0.0032	0.0053	0.0049	0.0009	0.0110	0.0063	0.0049	0	0.0055	0	0.0044	0.0076	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.05	0.86762	M	-3.19	0.93170	D	-5.19	0.83625	D	0.985	0.99611	0.870	0.95282	D	0.881	0.96042	D	10	0.05388558	0.05650	T	.	.	.	0.967	0.99571	.	.	0.976043902796	0.97578	0.9146863483025671	0.91443	0.682688991899	0.60127	0.665116786957	0.62141	T	0.909564	0.98286	D	0.18421	0.72430	D	0.495834	0.94539	D	0.0295018331513688	0.01913	T	0.80342	0.45053	T	0.9451431	0.95772	0.880827	0.93620	0.9223718	0.93479	0.8764509	0.93315	-14.526	0.94640	D	0.7398773921310636	0.82190	0.845	0.79473	P	.;.	.;.	4.524040	0.70963	25.6	0.99852384555800955	0.93191	0.98857	0.87776	D	AEFDBCI	0.906147	0.85855	D	0.938711959875959	0.93523	12.09615	0.887834194407588	0.95019	13.24074	1.0	0.98316	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.870000	0.85529	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.959	0.92645	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.008621	0.015244	0.000000	0.02632	1392.33	33	chr15	89330133	.	C	G	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.311;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.385;SOR=0.645	GT:AD:DP:GQ:PL	0/1:83,63:146:99:1406,0,2356	18	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,31:65:99:0|1:89776888_G_A:2660,1403,1312:89776888	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:65:91:1|1:89776888_G_A:1348,91,0:89776888	1	15	1	2
chr15	90769505	90769505	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon12:c.C2474T:p.P825L,BLM:NM_001287247:exon12:c.C2474T:p.P825L,BLM:NM_001287248:exon12:c.C1349T:p.P450L,BLM:NM_001287246:exon13:c.C2474T:p.P825L	Bloom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	400983	not_specified|not_provided|Hereditary_cancer-predisposing_syndrome|Bloom_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0636853690863	.	.	4.12e-05	0	0	0	0	5.996e-05	0	6.056e-05	3.23e-05	5	154602	rs749632465	2.463e-05	2.463e-05	2.178e-05	2.75e-05	0.0002	1.803e-05	1.6e-05	3.348e-05	1.981e-05	0	2.236e-05	0	0.0001	0	0.0002	2.338e-05	4.968e-05	1.159e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.84330	D	0.054494	1	0.81001	D	3.24	0.89678	M	2.41	0.15492	T	-8.37	0.97087	D	0.854	0.85027	-0.6329	0.63447	T	0.171	0.51293	T	10	0.8608711	0.85306	D	0.063685	0.69044	D	0.329	0.65126	.	.	0.831145112128	0.82953	0.8372091313085488	0.83680	0.479658001156	0.46996	0.727011144161	0.71069	T	0.388927	0.74948	T	-0.0165491	0.49344	T	-0.131097	0.60879	T	0.975805103778839	0.71096	D	0.983102	0.97691	D	0.9338384	0.94622	0.8685899	0.92768	0.9338384	0.94623	0.8685899	0.92768	-14.521	0.94627	D	0.4221204629195687	0.51072	0.642	0.70605	P	.;.	.;.	5.519553	0.91765	32	0.99894231200239758	0.96742	0.98820	0.87283	D	AEFDBIJ	0.590674	0.58707	D	0.818543524565271	0.87252	9.153839	0.735556876441471	0.85073	8.473413	0.999999557095449	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.16	5.16	0.70563	4.782000	0.62089	7.572000	0.60737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:1.0:0.0:0.0	16.146	0.81376	616	0.66398	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	.	.	.	.	.	.	.	.	0.02632	979.33	36	chr15	90769505	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.021;DP=740;ExcessHet=0;FS=8.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=2.47;SOR=0.202	GT:AD:DP:GQ:PL	0/1:30,40:70:99:993,0,626	18	0	1	0
chr15	92104419	92104419	G	A	exonic	SLCO3A1	.	nonsynonymous SNV	SLCO3A1:NM_001145044:exon4:c.G886A:p.A296T,SLCO3A1:NM_013272:exon4:c.G886A:p.A296T	.	430	1090	2	0	0	2	0.00091659	.	.	.	2443263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0199464698356	7.7e-05	.	0.0001	0.0002	8.643e-05	0	0	7.492e-05	0	0.0003	9.7e-05	15	154602	rs367922921	3.899e-05	3.899e-05	2.859e-05	4.95e-05	0.0012	3.047e-05	2.783e-05	0.0006	0.0004	2.987e-05	0	0	0	0	0.0012	2.428e-05	4.967e-05	0.0002	1.315e-05	1.313e-05	0	2.692e-05	4.832e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.832e-05	0	0	0	0	0	0	0	0	0	0.428	0.09746	T	0.635	0.08332	T	0.02	0.22112	B	0.015	0.17295	B	0.111764	0.19386	N	0.546616	0.853248	0.28465	N	0.305	0.10234	N	-1.41	0.80560	T	-0.26	0.12283	N	0.054	0.08366	-0.9626	0.38684	T	0.202	0.55850	T	10	0.03207791	0.01353	T	0.019946	0.42439	T	0.115	0.32236	.	.	0.24933006939	0.24537	0.16173888559776467	0.16094	0.369780222352	0.38505	0.405779033899	0.25872	T	0.038127	0.24728	T	-0.31546	0.07275	T	-0.398764	0.33527	T	0.0179559106239015	0.00521	T	0.684632	0.29288	T	0.04674703	0.07878	0.06963069	0.14694	0.04674703	0.07877	0.06963069	0.14694	-4.036	0.24341	T	.	.	0.067	0.02428	B	.;.	.;.	2.037894	0.25901	16.93	0.99082144348632051	0.52002	0.34194	0.25009	N	AEFDBCI	0.108044	0.21506	N	-0.637224599764191	0.17834	0.9210882	-0.493744493204783	0.22325	1.21205	0.837315888856504	0.24803	0.758104	0.99027	0	0.547309	0.14657	0	0.691618	0.62860	0	0.564101	0.26826	0	.	.	5.31	1.98	0.25351	1.564000	0.35983	1.737000	0.28371	0.676000	0.76740	0.164000	0.23853	0.941000	0.28781	0.999000	0.91618	0.3549:0.0:0.4911:0.154	4.469	0.11122	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2200.33	38	chr15	92104419	.	G	A	2200.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.843;DP=1077;ExcessHet=0;FS=0.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.137;SOR=0.617	GT:AD:DP:GQ:PL	0/1:65,83:148:99:2214,0,1513	18	0	1	0
chr15	98707682	98707682	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon2:c.G215A:p.S72N,IGF1R:NM_001291858:exon2:c.G215A:p.S72N	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4150803	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.00758554570454	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs749397555	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	1.799e-06	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.882	0.02532	T	0.978	0.02434	T	0.0	0.02946	B	0.0	0.01387	B	0.000389	0.44960	D	0.091189	0.994335	0.42244	D	-0.385	0.03041	N	-1.31	0.79666	T	0.51	0.02898	N	0.149	0.15888	-0.9561	0.39898	T	0.127	0.43277	T	10	0.09742445	0.17544	T	0.007586	0.20139	T	0.225	0.52323	0.467	0.53891	0.517039506269	0.51347	0.5415820654640275	0.54083	0.574231619775	0.53464	0.48493039608	0.36736	T	0.469913	0.80325	T	-0.321636	0.06765	T	-0.497131	0.22645	T	0.157736612099696	0.17702	T	0.591441	0.21800	T	0.108769774	0.25717	0.05374001	0.09111	0.108769774	0.25716	0.05374001	0.09111	-2.338	0.04767	T	0.096996351897064	0.06775	0.060	0.00876	B	.;.;.;.	.;.;.;.	3.376872	0.46690	22.3	0.88038468372066425	0.17669	0.74163	0.36276	D	AEFGBCI	0.178376	0.30563	N	-0.594597208632209	0.19107	0.9974721	-0.324875260101716	0.27297	1.513727	0.999997411336714	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.36	2.99	0.33673	2.823000	0.47781	8.360000	0.77028	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.4689:0.0:0.5311:0.0	4.505	0.11290	986	0.02773	Receptor L-domain;Receptor L-domain;Receptor L-domain;Receptor L-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1688.33	33	chr15	98707682	.	G	A	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.438;SOR=0.692	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1702,0,2203	18	0	1	0
chr15	99712504	99712504	-	CAG	exonic	MEF2A	.	nonframeshift insertion	MEF2A:NM_001130928:exon8:c.1023_1024insCAG:p.Q352_P353insQ,MEF2A:NM_001130926:exon10:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001130927:exon10:c.1047_1048insCAG:p.Q360_P361insQ,MEF2A:NM_001365206:exon10:c.1245_1246insCAG:p.Q426_P427insQ,MEF2A:NM_001365207:exon10:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001352616:exon11:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001352617:exon11:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001352618:exon11:c.1245_1246insCAG:p.Q426_P427insQ,MEF2A:NM_001365202:exon11:c.1269_1270insCAG:p.Q434_P435insQ,MEF2A:NM_001365204:exon11:c.1257_1258insCAG:p.Q430_P431insQ,MEF2A:NM_001365205:exon11:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001365208:exon11:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001365209:exon11:c.1047_1048insCAG:p.Q360_P361insQ,MEF2A:NM_005587:exon11:c.1233_1234insCAG:p.Q422_P423insQ,MEF2A:NM_001171894:exon12:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001319206:exon12:c.1251_1252insCAG:p.Q428_P429insQ,MEF2A:NM_001352614:exon12:c.1227_1228insCAG:p.Q420_P421insQ,MEF2A:NM_001365201:exon12:c.1269_1270insCAG:p.Q434_P435insQ,MEF2A:NM_001365203:exon12:c.1257_1258insCAG:p.Q430_P431insQ,MEF2A:NM_001352615:exon13:c.1227_1228insCAG:p.Q420_P421insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs374033278	0.0029	0.0028	0.0029	0.0028	0.0092	0.0028	0.0027	0.0083	0.0080	0.0092	0.0029	0.0038	0.0026	0.0014	0.0035	0.0027	0.0035	0.0023	0.0044	0.0044	0.0049	0.0039	0.0088	0.0041	0.0040	0.0081	0.0078	0.0088	0	0.0029	0.0043	0.0024	0.0010	0.0034	0.0029	0.0092	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	31018.3	39	chr15	99712504	.	C	CCAG	31018.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.196;DP=1827;ExcessHet=0.1862;FS=0.581;InbreedingCoeff=0.2549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=27.11;ReadPosRankSum=0.469;SOR=0.77	GT:AD:DP:GQ:PL	1/0:3,35:69:99:2372,1074,1162	17	0	2	0
chr15	99729536	99729536	C	T	exonic	LYSMD4	.	nonsynonymous SNV	LYSMD4:NM_001284420:exon2:c.G295A:p.G99S,LYSMD4:NM_001284417:exon3:c.G478A:p.G160S,LYSMD4:NM_001284418:exon3:c.G478A:p.G160S,LYSMD4:NM_001284421:exon4:c.G100A:p.G34S,LYSMD4:NM_001284419:exon5:c.G466A:p.G156S,LYSMD4:NM_001284422:exon5:c.G100A:p.G34S,LYSMD4:NM_152449:exon6:c.G481A:p.G161S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00352978619114	7.7e-05	0.000399361	5.772e-05	9.645e-05	0	0.0006	0	1.5e-05	0	0	5.82e-05	9	154602	rs140745845	2.326e-05	2.326e-05	2.859e-05	1.788e-05	0.0002	1.674e-05	1.477e-05	8.198e-05	5.784e-05	0	2.236e-05	0	0.0002	0	0	1.978e-05	4.967e-05	1.159e-05	7.225e-05	7.218e-05	0.0001	2.686e-05	0.0010	3.969e-05	3.126e-05	0.0004	0.0002	9.63e-05	0	0	0	0.0010	0	0	2.94e-05	0	0	1.0	0.00964	T	0.78	0.05882	T	0.0	0.11197	B	0.001	0.04355	B	0.129017	0.02792	N	1.800690	1	0.08975	N	0.09	0.08384	N	2.34	0.16351	T	1.16	0.01136	N	0.041	0.01421	-0.9977	0.30563	T	0.012	0.04653	T	10	0.013911039	0.00294	T	0.00353	0.08031	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.32733361953215223	0.32646	0.137656440124	0.15518	0.269809424877	0.06116	T	0.002352	0.01749	T	-0.6777	0.00049	T	-0.854868	0.00900	T	0.00949884382977934	0.00123	T	0.408959	0.10549	T	0.03097502	0.02854	0.034590285	0.02552	0.03097502	0.02853	0.034590285	0.02552	-4.063	0.30229	T	.	.	0.076	0.06159	B	.;.;.;.	.;.;.;.	-0.474912	0.01948	0.167	0.49331619430590096	0.04192	0.04030	0.09467	N	AEFBI	0.047692	0.08058	N	-1.71645527885303	0.00785	0.03391302	-1.75089838494054	0.00930	0.04160846	0.999999359684825	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.57	-7.18	0.01354	-1.207000	0.03118	-6.000000	0.01527	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1464:0.1823:0.0932:0.5781	3.874	0.08554	750	0.51762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2430.33	43	chr15	99729536	.	C	T	2430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=1047;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.824;SOR=0.678	GT:AD:DP:GQ:PL	0/1:66,84:150:99:2444,0,1560	18	0	1	0
chr15	101065379	101065379	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon32:c.G4942A:p.A1648T	.	.	.	.	.	.	.	.	.	.	.	1425782	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0363016726418	.	0.000199681	7.535e-05	0.0001	0	0	0	1.52e-05	0	0.0004	6.47e-05	10	154602	rs572219729	4.653e-05	4.72e-05	2.315e-05	7.014e-05	0.0006	3.728e-05	3.412e-05	0.0005	0.0004	5.974e-05	0	0	0	0	0	1.439e-05	0	0.0006	4.594e-05	4.593e-05	6.421e-05	2.684e-05	0.0002	2.107e-05	1.525e-05	1.171e-05	6.25e-06	4.809e-05	0	6.532e-05	0	0	0	0	4.409e-05	0	0.0002	0.071	0.35165	T	0.026	0.55759	D	0.205	0.29827	B	0.015	0.17295	B	0.011520	0.29503	N	0.380291	0.948978	0.26552	N	2.075	0.57047	M	-0.51	0.70597	T	-1.39	0.34397	N	0.175	0.18784	-0.7676	0.56989	T	0.240	0.60786	T	10	0.10812995	0.20116	T	0.036302	0.56907	D	0.129	0.35316	0.562	0.68229	0.852454309185	0.85103	0.4179050797297451	0.41706	0.426003645369	0.42989	0.448093235493	0.31684	T	0.026642	0.19675	T	-0.324563	0.06531	T	-0.376028	0.36187	T	0.0523885766344597	0.05915	T	0.937806	0.76632	D	0.085860215	0.19934	0.119268805	0.28789	0.085860215	0.19934	0.119268805	0.28788	-5.729	0.43950	T	.	.	0.121	0.25133	B	.	.	3.417928	0.47442	22.5	0.99233137034045016	0.56278	0.81959	0.41263	D	AEFGBCI	0.328822	0.42936	N	-0.310494896803679	0.28749	1.588289	-0.260811210776769	0.29401	1.646895	0.999649750640506	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.26	3.18	0.35615	1.747000	0.37925	7.208000	0.57815	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	0.0:0.0:0.54:0.46	13.477	0.60765	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1351.33	35	chr15	101065379	.	G	A	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=729;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.505;SOR=0.826	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1365,0,1235	18	0	1	0
chr16	283193	283193	-	CTG	exonic	PDIA2	.	nonframeshift insertion	PDIA2:NM_006849:exon1:c.24_25insCTG:p.L14_R15insL	.	403	1116	2	1	0	4	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00119808	0.0041	0.0018	0.0041	0	0	0.0058	0.0082	0.0015	0.00073	19	26028	rs564559094	0.0031	0.0031	0.0032	0.0031	0.0037	0.0031	0.0030	0.0036	0.0035	0.0017	0.0020	0.0017	2.557e-05	0.0003	0.0020	0.0037	0.0039	0.0007	0.0022	0.0022	0.0024	0.0020	0.0034	0.0020	0.0019	0.0031	0.0029	0.0014	0	0.0019	0.0003	0	0.0005	0	0.0034	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1207.79	33	chr16	283193	.	A	ACTG	1207.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=647;ExcessHet=0.119;FS=0.993;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=-0.207;SOR=0.845	GT:AD:DP:GQ:PL	0/1:13,15:28:99:583,0,501	17	0	2	0
chr16	553028	553063	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	-	exonic	CAPN15	.	frameshift deletion	CAPN15:NM_005632:exon13:c.3070_3083del:p.P1024Afs*33	.	394	1108	19	1	0	21	0.00938757	.	.	.	2810703	CAPN15-related_disorder|not_provided|Oculogastrointestinal-neurodevelopmental_syndrome	.|MedGen:C3661900|MONDO:MONDO:0036189,MedGen:C5543355,OMIM:619318,Orphanet:611201	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	0.0021	0.0061	0.0001	0.0024	0.0119	0.0103	0.0029	5.17e-05	8	154602	rs1441582052	0.0061	0.0061	0.0060	0.0061	0.0077	0.0060	0.0059	0.0066	0.0065	0.0013	0.0043	0.0134	0	0.0035	0.0077	0.0067	0.0068	0.0024	0.0065	0.0071	0.0069	0.0061	0.0103	0.0062	0.0060	0.0096	0.0094	0.0016	0.0012	0.0055	0.0174	0	0.0022	0.0187	0.0103	0.0112	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	949.29	38	chr16	553027	.	GCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	G	949.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.253;DP=1023;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=0.671;SOR=0.495	GT:AD:DP:GQ:PL	0/1:24,25:49:99:963,0,892	18	0	1	0
chr16	723106	723106	G	A	exonic	CCDC78	.	nonsynonymous SNV	CCDC78:NM_001378033:exon8:c.C622T:p.R208C,CCDC78:NM_001378031:exon10:c.C1009T:p.R337C,CCDC78:NM_001031737:exon12:c.C1189T:p.R397C,CCDC78:NM_001378030:exon12:c.C1189T:p.R397C	Myopathy, centronuclear, 4, Autosomal dominant	8	1513	1	0	0	1	0.00033036	.	.	.	693925	not_provided|Congenital_myopathy_with_internal_nuclei_and_atypical_cores	MedGen:C3661900|MONDO:MONDO:0013890,MedGen:C4707232,OMIM:614807,Orphanet:319160	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.0214364859583	.	0.000599042	0.0005	0	0.0003	0	0	3.08e-05	0	0.0031	0.0003816	59	154602	rs559942514	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	8.961e-05	0.0003	0	5.038e-05	0	0	8.184e-05	0.0002	0.0028	0.0002	0.0002	0.0002	0.0003	0.0035	0.0002	0.0001	0.0022	0.0018	4.808e-05	0	0.0009	0	0	0	0	2.94e-05	0	0.0035	0.008	0.58626	D	0.001	0.83351	D	0.999	0.77913	D	0.881	0.62579	P	0.372813	0.13502	N	0.655217	0.97254	0.40950	N	0.805	0.20218	L	1.08	0.39401	T	-3.43	0.67359	D	0.192	0.21056	-0.9645	0.38310	T	0.151	0.47874	T	10	0.005176753	0.00112	T	0.021436	0.44208	T	0.182	0.45420	0.333	0.32005	0.365703291355	0.36175	0.05575818867710843	0.05516	0.406424725356	0.41517	0.20194002986	0.00515	T	0.064776	0.32521	T	-0.412932	0.01901	T	-0.368975	0.37008	T	0.0985983047276081	0.12203	T	0.712229	0.32360	T	0.11928229	0.28089	0.12373641	0.29834	0.1290437	0.30152	0.122293144	0.29500	-4.689	0.33270	T	0.501813926550062	0.57690	0.102	0.18080	B	.	.	3.351276	0.46219	22.3	0.9960859800340347	0.74634	0.76153	0.37328	D	AEFDGBCI	0.247811	0.36832	N	-0.132200721614151	0.35995	2.074738	-0.308041431994369	0.27839	1.547593	0.999951592245843	0.48110	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.38	1.01	0.19044	1.065000	0.30202	2.442000	0.32776	-0.106000	0.15538	0.003000	0.16062	0.977000	0.30130	0.009000	0.08673	0.0:0.1459:0.5526:0.3015	8.832	0.34246	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	2583.83	47	chr16	723106	.	G	A	2583.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.67;DP=851;ExcessHet=0.119;FS=1.26;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.299;SOR=0.847	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1427,0,936	17	0	2	0
chr16	1195509	1195509	G	C	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon4:c.G489C:p.Q163H,CACNA1H:NM_021098:exon4:c.G489C:p.Q163H	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1451	66	5	0	76	0.0255205	.	.	.	465730	not_provided|Epilepsy,_childhood_absence,_susceptibility_to,_6|Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MedGen:C3661900|MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.589	.	0.0017	0.00499201	0.0091	0.0009	0.0046	0	0.0119	0.0073	0.0165	0.0222	0.0041591	643	154602	rs60593994	0.0041	0.0041	0.0036	0.0045	0.0208	0.0040	0.0039	0.0178	0.0167	0.0008	0.0024	0.0046	5.098e-05	0.0052	0.0208	0.0032	0.0048	0.0170	0.0036	0.0036	0.0032	0.0041	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0022	0.0029	0.0049	0.0006	0.0076	0.0102	0.0043	0.0043	0.0162	0.061	0.37118	T	0.028	0.54934	D	0.051	0.73220	B	0.044	0.67021	B	0.187939	0.16925	N	0.589948	0.933575	0.26992	N	0.755	0.19153	N	-4.96	0.98448	D	-2.3	0.51157	N	0.487	0.53445	0.503	0.90584	D	0.856	0.95210	D	10	0.009828389	0.00221	T	.	.	.	0.589	0.83582	0.492	0.57890	0.907716034186	0.90679	0.6053794673270226	0.60468	.	.	0.537974953651	0.44159	T	0.579796	0.86222	D	-0.154178	0.27659	T	0.0193832	0.71591	D	0.0115321058971988	0.00174	T	0.868713	0.57175	D	0.3267669	0.55205	0.17381215	0.39733	0.27811882	0.50866	0.23346187	0.48535	-4.751	0.34015	T	0.2448169002887968	0.33160	0.276	0.54492	B	.;.;.;.	.;.;.;.	3.993221	0.58790	24.0	0.99663114981693679	0.78074	0.76265	0.37391	D	AEFDBHCI	0.382935	0.46463	N	-0.0927476318306143	0.37709	2.197865	-0.0337636271135359	0.38200	2.247254	0.945066235711583	0.27644	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.69	2.7	0.31007	1.632000	0.36715	1.521000	0.27092	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.096:0.0:0.904:0.0	10.865	0.46058	946	0.12043	Ion transport domain;Ion transport 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	0.021673	0.020202	0.012262	0.020468	0.000000	0.043103	0.021472	0.022901	0.07895	6600.77	35	chr16	1195509	.	G	C	6600.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.311;DP=957;ExcessHet=0;FS=1.969;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=0.348;SOR=0.581	GT:AD:DP:GQ:PL	1/1:0,154:154:99:4714,462,0	17	1	1	0
chr16	1399389	1399389	C	T	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001037125:exon5:c.G719A:p.R240Q,UNKL:NM_001193388:exon5:c.G719A:p.R240Q,UNKL:NM_001372107:exon5:c.G719A:p.R240Q	.	420	1094	7	1	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0016	0.00379393	0.0050	0.0009	0.0011	0.0005	0.0004	0.0022	0	0.0237	0.0031565	488	154602	rs141777582	0.0028	0.0029	0.0024	0.0033	0.0177	0.0028	0.0027	0.0170	0.0167	0.0003	0.0009	0	0.0002	0.0001	0.0049	0.0021	0.0027	0.0177	0.0020	0.0020	0.0016	0.0023	0.0176	0.0018	0.0017	0.0146	0.0135	0.0006	0	0.0026	0	0.0004	9.413e-05	0.0102	0.0021	0.0014	0.0176	0.005	0.63226	D	0.052	0.48855	T	0.997	0.70673	D	0.742	0.55764	P	0.000000	0.84330	D	0.000000	0.999971	0.58761	D	2.845	0.82663	M	-0.23	0.66652	T	-2.87	0.60665	D	0.747	0.74644	-0.2033	0.77585	T	0.421	0.76643	T	10	0.0087712705	0.00199	T	.	.	.	0.317	0.63904	.	.	0.436025050644	0.43221	0.6277779447133178	0.62710	0.0912365526607	0.10305	0.623870193958	0.56276	T	0.20087	0.55858	T	-0.263256	0.12522	T	-0.136646	0.60408	T	0.0312224929181586	0.02181	T	0.985781	0.95172	D	.	.	.	.	.	.	.	.	-5.093	0.37834	T	.	.	0.083	0.17488	B	.;.;.	.;.;.	4.801165	0.78012	26.8	0.99929603435023084	0.99279	0.97190	0.73220	D	AEFDBCI	0.809871	0.73326	D	0.411816280544136	0.62070	4.417149	0.279211665152239	0.54327	3.598034	0.999999991742954	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	4.22	4.22	0.49153	7.507000	0.80548	5.640000	0.49146	0.599000	0.40250	0.995000	0.38783	0.721000	0.26353	0.154000	0.20445	0.0:1.0:0.0:0.0	14.451	0.66961	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004569	0.000000	0.002725	0.005848	0.000000	0.000000	0.003086	0.011450	0.05263	1245.83	34	chr16	1399389	.	C	T	1245.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.25;DP=674;ExcessHet=0.119;FS=5.433;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.975;SOR=0.314	GT:AD:DP:GQ:PL	0/1:20,26:46:99:782,0,444	17	0	2	0
chr16	1625985	1625985	G	T	exonic	CRAMP1	.	nonsynonymous SNV	CRAMP1:NM_020825:exon3:c.G359T:p.G120V	.	414	1062	45	1	0	47	0.021649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0022	0.00439297	0.0087	0.0009	0.0122	0	0	0.0054	0.0053	0.0151	0.0015977	247	154602	rs150953427	0.0027	0.0026	0.0022	0.0031	0.0200	0.0026	0.0026	0.0170	0.0159	0.0013	0.0026	0.0125	5.597e-05	2.031e-05	0.0200	0.0015	0.0050	0.0159	0.0020	0.0020	0.0018	0.0021	0.0166	0.0018	0.0017	0.0137	0.0126	0.0003	0	0.0022	0.0121	0	0	0.0068	0.0018	0.0047	0.0166	0.003	0.68238	D	0.006	0.70582	D	0.047	0.21998	B	0.039	0.23607	B	0.714790	0.06279	U	1.293900	0.516498	0.54805	D	1.845	0.48678	L	1.6	0.28604	T	-1.81	0.42575	N	0.234	0.26596	-1.1190	0.02395	T	0.047	0.20116	T	10	0.0060564578	0.00136	T	.	.	.	0.044	0.11924	.	.	0.043077524339	0.03247	0.36344445300390743	0.36258	2.073624099	0.94498	0.61243647337	0.54661	T	0.290878	0.66365	T	-0.464481	0.00921	T	-0.427647	0.30203	T	0.051960638129214	0.05841	T	0.880312	0.59828	D	0.11622287	0.27416	0.13331488	0.31970	0.11622287	0.27416	0.13331488	0.31969	-5.155	0.38481	T	.	.	0.086	0.11172	B	.;.	.;.	3.568289	0.50241	22.9	0.99028105396021637	0.50742	0.91850	0.54398	D	AEFDBI	0.208233	0.33433	N	-0.513885814024058	0.21630	1.149333	-0.402537516771408	0.24923	1.367544	0.951471058068634	0.27959	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	5.99	4.03	0.46115	4.409000	0.59524	7.437000	0.58841	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0697:0.0:0.7915:0.1389	9.831	0.40107	553	0.71930	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029213	0.021978	0.054217	0.039130	0.000000	0.000000	0.000000	0.041667	0.07895	3209.79	34	chr16	1625985	.	G	T	3209.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.249;DP=840;ExcessHet=0.3672;FS=3.269;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.395;SOR=0.885	GT:AD:DP:GQ:PL	0/1:54,40:94:99:936,0,1360	16	0	3	0
chr16	1999630	1999630	G	A	exonic	ZNF598	.	nonsynonymous SNV	ZNF598:NM_178167:exon11:c.C1919T:p.P640L	.	404	1117	1	0	0	1	0.000447427	.	.	.	2810842	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	.	0.0041	0.00179712	0.0072	0.0020	0.0008	0.0001	0.0078	0.0111	0.0050	0.0032	0.0065588	1014	154602	rs144186452	0.0078	0.0078	0.0080	0.0075	0.0093	0.0076	0.0076	0.0091	0.0090	0.0011	0.0014	0.0010	0	0.0066	0.0007	0.0093	0.0052	0.0027	0.0053	0.0053	0.0054	0.0051	0.0088	0.0050	0.0048	0.0082	0.0080	0.0018	0.0044	0.0030	0.0006	0	0.0057	0	0.0088	0.0028	0.0023	0.058	0.37750	T	0.002	0.79402	D	.	.	.	.	.	.	0.543311	0.11513	N	0.795844	1	0.08975	N	.	.	.	2.3	0.16953	T	-1.0	0.26422	N	0.056	0.02964	-0.9976	0.30590	T	0.025	0.10688	T	10	0.0038484335	0.00073	T	.	.	.	.	.	.	.	0.345632371893	0.34166	.	.	.	.	0.425714790821	0.28623	T	0.011173	0.10005	T	-0.597103	0.00152	T	-0.622512	0.10990	T	0.0016969949223261	0.00017	T	0.643236	0.25495	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.;.	.;.	0.249293	0.06286	2.744	0.71317224232775267	0.09588	0.12230	0.17141	N	AEFDBCI	0.050365	0.08796	N	-1.02905456596761	0.08005	0.3738244	-1.09427842171121	0.07812	0.3815009	0.998659578876861	0.37392	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	0.541	0.16359	0.192000	0.16902	0.745000	0.21191	-0.119000	0.14319	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3239:0.0:0.5283:0.1478	4.283	0.10286	789	0.46346	.;.	AC005363.9|AC005363.9|AC005363.9|HAGH|AC005363.9|HAGH|AC005363.9|AC005363.9|AC005363.9|HAGH|AC005363.9|AC005363.9|RPS2|AC005363.9|BRICD5|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|NDUFB10|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|AC005363.9|IGFALS|AC005363.9|HAGH|AC005363.9|AC005363.9	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood	NDUFB10|MSRB1	Skin_Sun_Exposed_Lower_leg|Spleen	rs144186452	Likely benign	0	0	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	0.003024	0.005102	0.002725	0.000000	0.050000	0.008621	0.000000	0.003788	0.02632	847.33	33	chr16	1999630	.	G	A	847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=705;ExcessHet=0;FS=3.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-1.225;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,31:80:99:0|1:1999630_G_A:861,0,1210:1999630	18	0	1	0
chr16	2763616	2763616	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C3088T:p.P1030S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0464520435173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312267845	2.668e-05	2.668e-05	2.995e-05	2.338e-05	0.0002	1.997e-05	1.754e-05	2.37e-05	2.103e-05	2.987e-05	0	0	0	0	0.0002	3.237e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.22426	T	0.0	0.02946	B	0.0	0.01387	B	0.059157	0.22346	N	0.429652	1	0.08975	N	-1.63	0.00401	N	-3.45	0.94469	D	0.7	0.02163	N	0.076	0.05037	-0.5430	0.67050	T	0.360	0.72163	T	10	0.034046233	0.01599	T	0.046452	0.62466	D	0.179	0.44899	.	.	0.301455362545	0.29754	0.12360561046265911	0.12286	.	.	0.242458999157	0.03016	T	0.092704	0.39060	T	-0.062034	0.42588	T	-0.326884	0.41815	T	0.0332508452311209	0.02513	T	0.635836	0.24975	T	0.025711128	0.01540	0.042583972	0.05107	0.025711128	0.01539	0.042583972	0.05107	-0.754	0.00764	T	.	.	0.062	0.01197	B	.	.	0.407341	0.07786	4.471	0.26567961889818931	0.01279	0.03497	0.08668	N	AEFBHCI	0.040135	0.05927	N	-1.398129518322	0.02656	0.1175925	-1.25494485715225	0.05058	0.2401227	0.999921221616472	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	3.08	0.34576	1.889000	0.39352	0.261000	0.16544	-0.218000	0.08083	0.303000	0.25352	0.011000	0.20116	0.012000	0.09680	0.0:0.1008:0.1751:0.7241	5.431	0.15752	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	.	.	.	.	.	.	.	.	0.02632	2134.33	99	chr16	2763616	.	C	T	2134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.23;DP=1656;ExcessHet=0;FS=6.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.14;SOR=0.525	GT:AD:DP:GQ:PL	0/1:86,77:163:99:2148,0,2413	18	0	1	0
chr16	2930551	2930551	G	A	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon4:c.G467A:p.R156Q,FLYWCH1:NM_020912:exon4:c.G464A:p.R155Q,FLYWCH1:NM_032296:exon4:c.G464A:p.R155Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00863558154995	.	0.000399361	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs144924364	2.648e-05	3.489e-05	2.973e-05	2.315e-05	3.207e-05	1.954e-05	1.706e-05	2.172e-05	1.911e-05	0	3.207e-05	0	0	2.041e-05	0	3.046e-05	1.729e-05	1.275e-05	4.597e-05	4.593e-05	3.855e-05	5.372e-05	8.822e-05	2.108e-05	1.526e-05	3.763e-05	2.575e-05	0	0	0	0	0	9.422e-05	0	8.822e-05	0	0	0.073	0.34800	T	0.166	0.30828	T	0.106	0.41422	B	0.013	0.27960	B	.	.	.	.	0.984977	0.24753	N	2.005	0.54552	M	.	.	.	-1.23	0.31170	N	0.352	0.41459	-1.0375	0.18078	T	0.068	0.27980	T	8	0.05940658	0.07137	T	0.008636	0.22829	T	0.075	0.21907	.	.	0.0401082797425	0.02173	0.22576258687009532	0.22491	.	.	0.489024221897	0.37303	T	0.063	0.32140	T	-0.0892842	0.38194	T	-0.366027	0.37354	T	0.117928065141697	0.14226	T	0.844815	0.52285	T	0.03316639	0.03482	0.05541207	0.09715	0.03316639	0.03482	0.05541207	0.09714	-8.286	0.63002	D	.	.	0.296	0.52817	B	.;.	.;.	3.191685	0.43364	21.7	0.99544141808193931	0.70711	0.87269	0.46757	D	AEFBI	0.222737	0.34719	N	-0.260727749539724	0.30676	1.712784	-0.236245126761309	0.30247	1.701467	8.74753189835801E-5	0.04703	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.42	1.45	0.21708	0.942000	0.28615	7.000000	0.57193	-0.123000	0.13640	0.084000	0.22438	1.000000	0.68203	0.551000	0.30197	0.2462:0.0:0.7538:0.0	5.792	0.17630	867	0.32089	Zinc finger, FLYWCH-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	718.33	36	chr16	2930551	.	G	A	718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=712;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.399;SOR=1.101	GT:AD:DP:GQ:PL	0/1:33,24:57:99:732,0,938	18	0	1	0
chr16	3397443	3397443	G	A	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001284527:exon2:c.C115T:p.R39C,ZSCAN32:NM_001324346:exon2:c.C115T:p.R39C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00106205949383	.	.	5.899e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs746789548	4.861e-05	4.925e-05	4.655e-05	5.073e-05	0.0019	3.895e-05	3.565e-05	0.0011	0.0008	3.164e-05	0	0	0.0001	0	0.0019	3.613e-05	0.0001	8.832e-05	1.971e-05	1.97e-05	2.569e-05	1.344e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0.0005	0	0.057	0.37966	T	0.144	0.56192	T	.	.	.	.	.	.	0.114616	0.19268	U	0.263029	0.998146	0.29410	N	1.035	0.25616	L	3.5	0.05014	T	-2.85	0.60029	D	0.306	0.34552	-1.0915	0.05286	T	0.040	0.17106	T	9	0.11720654	0.22130	T	0.001062	0.01215	T	0.129	0.35316	.	.	0.181679512989	0.17746	0.24547346785742782	0.24461	.	.	0.286849021912	0.08466	T	0.091419	0.38791	T	-0.352007	0.04602	T	-0.474111	0.25074	T	0.11786545495119	0.14219	T	0.472753	0.14054	T	0.16597527	0.36904	0.123385526	0.29752	0.16597527	0.36904	0.123385526	0.29751	-6.715	0.51923	T	.	.	0.388	0.58884	A	.;.;.;.;.;.	.;.;.;.;.;.	2.302247	0.29462	18.13	0.73401606244808448	0.10315	0.05276	0.11117	N	AEFDBI	0.054382	0.09884	N	-0.400982872293146	0.25434	1.38069	-0.503361905574627	0.22061	1.196441	0.998564196202223	0.37206	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.44	1.36	0.21139	0.565000	0.23281	.	.	0.676000	0.76740	0.110000	0.22992	0.000000	0.08366	0.915000	0.45038	0.3104:0.0:0.6896:0.0	6.722	0.22523	735	0.53711	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2291.33	45	chr16	3397443	.	G	A	2291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=827;ExcessHet=0;FS=4.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=-0.254;SOR=0.478	GT:AD:DP:GQ:PL	0/1:54,79:133:99:2305,0,1253	18	0	1	0
chr16	3564573	3564573	C	T	exonic	NLRC3	.	nonsynonymous SNV	NLRC3:NM_178844:exon5:c.G364A:p.V122I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00688796518368	0.0002	.	2.688e-05	0	0	0	0	3.303e-05	0	6.187e-05	2.59e-05	4	154602	rs373474132	8.224e-06	8.209e-06	8.182e-06	8.266e-06	2.321e-05	4.39e-06	3.46e-06	3.85e-06	2.24e-06	0	0	0	0	0	0	7.198e-06	3.316e-05	2.321e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.001881	0.37789	N	0.232405	1	0.08975	N	.	.	.	-0.19	0.65931	T	0.59	0.02558	N	0.047	0.01911	-0.9833	0.34234	T	0.128	0.43524	T	9	0.059416324	0.07140	T	0.006888	0.18233	T	0.044	0.11924	.	.	0.186928172975	0.18263	0.0956283493049332	0.09494	.	.	0.294594168663	0.09598	T	0.006518	0.05951	T	-0.208766	0.19553	T	-0.437025	0.29142	T	0.07446006145665	0.09263	T	0.654634	0.26482	T	0.020128727	0.00561	0.033141308	0.02162	0.020128727	0.00560	0.033141308	0.02161	-3.351	0.14404	T	.	.	0.066	0.03372	B	.;.	.;.	-0.240232	0.02892	0.414	0.18834522702443623	0.00609	0.06139	0.12118	N	AEFDGBI	0.040228	0.05953	N	-1.0030567159346	0.08540	0.4008028	-0.968192739070007	0.10504	0.5294671	0.00647223353686009	0.11227	0.115753	0.02995	0	0.12628	0.03447	0	0.074216	0.02223	0	0.079188	0.02158	0	.	.	4.73	2.44	0.28875	1.369000	0.33832	.	.	-0.185000	0.09859	0.857000	0.30561	0.035000	0.21413	0.003000	0.05239	0.0:0.0999:0.3587:0.5414	5.073	0.13952	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	.	.	.	.	.	.	.	.	0.02632	848.33	46	chr16	3564573	.	C	T	848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=768;ExcessHet=0;FS=3.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.76;SOR=0.763	GT:AD:DP:GQ:PL	0/1:38,29:67:99:862,0,993	18	0	1	0
chr16	5058588	5058588	C	T	exonic	C16orf89	.	nonsynonymous SNV	C16orf89:NM_001098514:exon4:c.G532A:p.G178S,C16orf89:NM_152459:exon4:c.G532A:p.G178S	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00698432583096	0.0002	0.000399361	0.0005	0.0002	0.0003	0	0	0.0005	0	0.0011	0.0003881	60	154602	rs186670584	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0004	0.0014	0.0011	0	0.0002	0.0002	2.541e-05	0	0.0024	0.0004	0.0005	0.0012	0.0003	0.0003	0.0004	0.0003	0.0011	0.0003	0.0002	0.0007	0.0006	0.0002	0	0.0011	0.0006	0	0	0	0.0003	0	0.0006	0.741	0.03696	T	0.846	0.03674	T	0.342	0.33490	B	0.018	0.18489	B	0.172264	0.17340	N	0.551469	0.999985	0.54805	D	1.355	0.33814	L	1.62	0.28189	T	0.03	0.06612	N	0.3	0.33904	-0.9834	0.34211	T	0.022	0.09147	T	10	0.013089269	0.00279	T	0.006984	0.18485	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.24858820043233887	0.24772	0.00905380675831	0.00821	.	.	.	0.00757	0.06968	T	-0.616993	0.00115	T	-0.709485	0.05322	T	0.000998299178158266	0.00010	T	0.540046	0.18281	T	0.03238793	0.03256	0.046234842	0.06399	0.03238793	0.03256	0.046234842	0.06398	-2.288	0.05593	T	.	.	0.095	0.14888	B	.;.;.	.;.;.	-0.311940	0.02566	0.312	0.88931023626950756	0.18372	0.02141	0.06307	N	AEFDBHCIJ	0.050342	0.08788	N	-1.1543081133545	0.05710	0.260987	-1.15198333701863	0.06732	0.3250515	0.999500461202212	0.40062	0.525926	0.21836	0	0.547309	0.14657	0	0.615044	0.40820	1	0.584449	0.35598	0	.	.	5.14	-1.79	0.07504	-1.306000	0.02844	-0.839000	0.07224	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.219000	0.22435	0.0:0.1857:0.2691:0.5452	5.348	0.15325	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.050000	0.000000	0.006098	0.007576	0.02632	542.33	34	chr16	5058588	.	C	T	542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.06;SOR=0.776	GT:AD:DP:GQ:PL	0/1:25,24:49:99:556,0,589	18	0	1	0
chr16	11414445	11414445	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon44:c.C6656T:p.A2219V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380985419	4.034e-06	1.431e-05	8.181e-06	0	6.321e-06	0	0	.	.	0	0	0	0	0	0	6.321e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097067386	0.17456	T	.	.	.	.	.	.	.	0.210429274316	0.20668	.	.	.	.	.	.	.	.	.	.	-0.26865	0.11907	T	-0.623673	0.10900	T	.	.	.	0.408659	0.10529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26576	B	.	.	0.895663	0.12696	9.216	0.37222168569273256	0.02440	0.01879	0.05782	N	AEFDBI	0.039580	0.05768	N	.	.	.	.	.	.	0.725135113258075	0.22978	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	3.71	-0.795	0.10364	0.310000	0.19112	1.585000	0.27497	-0.272000	0.06708	0.011000	0.18532	0.006000	0.19429	0.006000	0.07323	0.3426:0.0:0.4684:0.189	3.134	0.06047	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	35	chr16	11414445	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=728;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=2.54;SOR=0.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,50:94:99:0|1:11414445_G_A:1268,0,990:11414445	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:92,52:158:99:150,0,1526	4	0	15	0
chr16	19114722	19114724	CTC	-	exonic	ITPRIPL2	.	nonframeshift deletion	ITPRIPL2:NM_001034841:exon1:c.261_263del:p.S89del	.	427	1060	34	1	0	36	0.0166976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.00579073	0.0074	0.0004	0.0018	0	0.0160	0.0086	0.0123	0.0107	0.00073	19	26028	rs534424977	0.0070	0.0070	0.0068	0.0071	0.0103	0.0068	0.0068	0.0097	0.0095	0.0008	0.0021	0.0158	0	0.0145	0.0099	0.0067	0.0081	0.0103	0.0055	0.0055	0.0053	0.0058	0.0126	0.0052	0.0051	0.0101	0.0092	0.0008	0.0011	0.0042	0.0170	0	0.0113	0.0103	0.0072	0.0038	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007560	0.005102	0.004076	0.005848	0.050000	0.000000	0.009146	0.011364	0.02632	2325.29	35	chr16	19114721	.	TCTC	T	2325.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.326;DP=746;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.36;ReadPosRankSum=-0.854;SOR=0.958	GT:AD:DP:GQ:PL	0/1:45,59:104:99:2339,0,1636	18	0	1	0
chr16	20965081	20965081	G	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon53:c.C8665T:p.R2889W,DNAH3:NM_017539:exon53:c.C8803T:p.R2935W	.	431	1090	1	0	0	1	0.000458505	.	.	.	3247627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.463	0.0507892117698	7.7e-05	.	3.295e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs143399673	1.3e-05	1.3e-05	9.529e-06	1.65e-05	0.0001	8.31e-06	6.7e-06	5.395e-05	4.042e-05	8.961e-05	0	0	0	0	0	6.295e-06	0	0.0001	1.973e-05	1.969e-05	1.287e-05	2.69e-05	0.0002	5.25e-06	2.46e-06	7.99e-06	2.99e-06	4.822e-05	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.986	0.76916	D	0.000600	0.43095	D	0.153499	0.999981	0.81001	D	3.27	0.90083	M	-0.86	0.74477	T	-5.91	0.88904	D	0.754	0.75283	0.467	0.90070	D	0.639	0.87372	D	10	0.83439994	0.82597	D	0.050789	0.64388	D	0.463	0.75956	.	.	0.330331372229	0.32644	0.5814700044973444	0.58075	0.486442497371	0.47507	0.623100101948	0.56167	T	0.705805	0.91568	D	-0.106723	0.35311	T	-0.111642	0.62481	T	0.973226368427277	0.70010	D	0.927207	0.73169	D	0.6884802	0.77429	0.7997131	0.88252	0.6884802	0.77431	0.7997131	0.88252	-12.093	0.85301	D	.	.	0.251	0.48521	B	.	.	3.521728	0.49371	22.8	0.99844705254533483	0.92489	0.97709	0.76570	D	AEFBI	0.719521	0.67038	D	0.431338590592616	0.63154	4.543648	0.266920163651358	0.53618	3.52988	0.700010665481719	0.22688	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	4.96	0.65153	2.847000	0.47970	5.110000	0.47506	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0:0.8675:0.1325	16.411	0.83549	318	0.87072	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2253.33	36	chr16	20965081	.	G	A	2253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.627;SOR=0.685	GT:AD:DP:GQ:PL	0/1:53,75:128:99:2267,0,1258	18	0	1	0
chr16	22315207	22315207	G	A	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon8:c.G533A:p.R178K,POLR3E:NM_001258035:exon8:c.G533A:p.R178K,POLR3E:NM_001258033:exon9:c.G641A:p.R214K,POLR3E:NM_001258036:exon9:c.G641A:p.R214K,POLR3E:NM_018119:exon9:c.G641A:p.R214K	.	.	.	.	.	.	.	.	0.0009	0.084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00523180054952	.	.	8.837e-05	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs753686071	1.884e-05	1.984e-05	6.919e-06	3.095e-05	0.0005	1.29e-05	1.106e-05	0.0002	0.0001	0	0	0	0	0	0.0005	1.822e-06	1.687e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000002	0.62929	D	0.098546	0.99865	0.45228	D	-1.555	0.00461	N	1.12	0.38718	T	0.38	0.03579	N	0.252	0.29889	-1.0447	0.15913	T	0.028	0.11882	T	10	0.09885618	0.17901	T	0.005232	0.13341	T	0.086	0.25016	0.342	0.33464	0.498576615019	0.49493	0.11455228452785994	0.11383	0.397819580029	0.40861	0.500305354595	0.38871	T	0.001778	0.11099	T	-0.477796	0.00762	T	-0.631948	0.10268	T	0.124218021544159	0.14838	T	.	.	.	0.063329265	0.13322	0.08237032	0.18795	0.063329265	0.13322	0.08237032	0.18794	-2.435	0.05560	T	.	.	0.061	0.02518	B	.;.;.;.;.	.;.;.;.;.	1.530502	0.19640	14.36	0.86852424887680324	0.16816	0.85366	0.44492	D	AEFBCI	0.511495	0.54010	D	-0.366475376048805	0.26670	1.457404	-0.0706000229913629	0.36611	2.13288	0.999999990416126	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	2.890000	0.48308	3.645000	0.39359	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.793000	0.37436	0.2064:0.0:0.7936:0.0	7.129	0.24668	459	0.78817	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	629.33	34	chr16	22315207	.	G	A	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.211;SOR=0.705	GT:AD:DP:GQ:PL	0/1:34,27:61:99:643,0,860	18	0	1	0
chr16	22534048	22534059	ACCCTCAGCTCC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1065_1076del:p.P359_A362del	.	501	975	46	0	0	46	0.0230461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0	0	0	0	0.0045	0	0	3.84e-05	1	26028	rs761773343	0.0030	0.0046	0.0029	0.0032	0.0158	0.0030	0.0029	0.0127	0.0115	0.0006	0.0019	0.0144	0.0002	0.0051	0.0158	0.0024	0.0037	0.0087	0.0051	0.0060	0.0051	0.0052	0.0165	0.0048	0.0046	0.0130	0.0117	0.0009	0	0.0049	0.0230	0	0.0040	0.0099	0.0068	0.0072	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6813.75	42	chr16	22534047	.	TACCCTCAGCTCC	T	6813.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=1871;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.91;MQRankSum=-2.016;QD=6.14;ReadPosRankSum=-1.195;SOR=0.649	GT:AD:DP:GQ:PL	0/1:347,84:431:99:2334,0,14161	16	0	3	0
chr16	23069332	23069332	G	C	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon16:c.C2773G:p.P925A	.	425	1062	33	2	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.000998403	0.0024	9.641e-05	0.0003	0	0	0.0010	0.0023	0.0158	0.0022121	342	154602	rs141634001	0.0013	0.0014	0.0009	0.0018	0.0140	0.0013	0.0013	0.0133	0.0131	6.028e-05	0.0002	0.0003	2.528e-05	7.542e-05	0.0081	0.0006	0.0014	0.0140	0.0011	0.0011	0.0011	0.0010	0.0118	0.0009	0.0009	0.0094	0.0085	9.619e-05	0.0351	0.0001	0.0006	0	9.423e-05	0.0102	0.0008	0.0014	0.0118	0.135	0.26192	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.218837	0.03439	N	1.754940	1	0.08975	N	1.7	0.43825	L	3.18	0.23884	T	-0.29	0.11728	N	0.053	0.14480	-0.9923	0.32012	T	0.021	0.08778	T	10	0.0021762252	0.00031	T	.	.	.	0.052	0.14661	.	.	0.407632638399	0.40377	0.1907764888670964	0.18995	0.22218228433	0.24755	0.25538033247	0.04355	T	0.007357	0.06771	T	-0.66129	0.00062	T	-0.710997	0.05244	T	0.0182750649148329	0.00546	T	0.645735	0.25721	T	0.041194297	0.06020	0.048098188	0.07073	0.041194297	0.06020	0.048098188	0.07073	-3.268	0.13328	T	.	.	0.060	0.01328	B	.;.	.;.	0.157530	0.05486	1.952	0.89360694669253948	0.18730	0.17158	0.19715	N	AEFDBI	0.082197	0.16642	N	-0.761764257807194	0.14315	0.7121154	-0.84167176139048	0.13488	0.6999429	0.997918275805011	0.36186	0.562547	0.31514	0	0.546412	0.12157	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	6.16	-3.78	0.04049	0.118000	0.15436	0.478000	0.18778	0.676000	0.76740	0.001000	0.13787	0.013000	0.20296	0.966000	0.53164	0.2567:0.4476:0.2957:0.0	8.026	0.29599	437	0.80299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.015152	0.05263	4359.83	39	chr16	23069332	.	G	C	4359.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.66;DP=1128;ExcessHet=0.119;FS=3.869;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.27;SOR=0.772	GT:AD:DP:GQ:PL	0/1:99,79:178:99:2209,0,2749	17	0	2	0
chr16	23710523	23710523	C	T	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon3:c.G226A:p.V76I,ERN2:NM_033266:exon3:c.G226A:p.V76I	.	425	1033	61	3	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0025	0.00579073	0.0057	0.0004	0.0013	0.0005	0.0009	0.0032	0.0044	0.0271	0.0051681	799	154602	rs150200841	0.0037	0.0037	0.0027	0.0047	0.0285	0.0036	0.0036	0.0275	0.0271	0.0004	0.0022	0.0072	0.0002	0.0011	0.0212	0.0020	0.0044	0.0285	0.0026	0.0026	0.0021	0.0030	0.0257	0.0023	0.0023	0.0220	0.0206	0.0004	0	0.0016	0.0072	0.0004	0.0006	0.0204	0.0026	0.0047	0.0257	0.125	0.27310	T	0.265	0.25514	T	0.902	0.49745	P	0.167	0.35118	B	0.000922	0.41028	D	0.226724	0.959256	0.38117	D	0.935	0.23595	L	0.41	0.57100	T	-0.53	0.16393	N	0.434	0.47301	-0.9834	0.34211	T	0.080	0.31556	T	10	0.008725643	0.00198	T	.	.	.	0.129	0.35316	.	.	0.779331883665	0.77729	0.28674151242258855	0.28587	0.335070030475	0.35518	0.355879753828	0.18784	T	0.060599	0.31430	T	-0.438073	0.01327	T	-0.382441	0.35437	T	0.0125137267359404	0.00207	T	0.748325	0.36895	T	0.059365295	0.12056	0.12874185	0.30967	0.059365295	0.12055	0.12874185	0.30967	-6.648	0.51418	T	.	.	0.095	0.14842	B	.;.	.;.	3.464842	0.48308	22.6	0.989779952778573	0.49680	0.92195	0.55157	D	AEFBI	0.242587	0.36401	N	0.119815519159688	0.47389	2.965184	0.192833246547164	0.49452	3.14833	0.975892739164718	0.29674	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	1.918000	0.39636	4.738000	0.44591	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.694000	0.33958	0.0:1.0:0.0:0.0	15.646	0.76800	588	0.69043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.012228	0.038012	0.050000	0.000000	0.027439	0.022727	0.07895	3808.79	38	chr16	23710523	.	C	T	3808.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.881;DP=924;ExcessHet=0.3672;FS=1.394;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.297;SOR=0.806	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1355,0,1215	16	0	3	0
chr16	27573918	27573918	-	C	exonic	KATNIP	.	frameshift insertion	KATNIP:NM_015202:exon2:c.26dupC:p.E10Rfs*16	.	432	1089	1	0	0	1	0.000458926	.	.	.	1683286	See_cases|Joubert_syndrome_26|not_provided	.|MONDO:MONDO:0014771,MedGen:C4084843,OMIM:616784,Orphanet:475|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283389193	2.326e-05	2.326e-05	2.178e-05	2.475e-05	2.968e-05	1.674e-05	1.477e-05	2.116e-05	1.862e-05	0	0	0	0	0	0	2.968e-05	1.656e-05	0	1.971e-05	1.97e-05	0	4.035e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	7990.73	36	chr16	27573918	.	G	GC	7990.73	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.44;DP=925;ExcessHet=0;FS=2.111;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=25.13;ReadPosRankSum=2.4;SOR=0.56	GT:AD:DP:GQ:PL	0/1:87,67:154:99:2034,0,2633	17	1	1	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	223.64	35	chr16	28757997	.	G	T	223.64	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=0.6304;MLEAC=3;MLEAF=0.083;MQ=40.26;MQRankSum=-0.674;QD=27.95;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:28757992_CA_C:90,6,0:28757992	15	2	1	1
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1171.4	182	chr16	29383301	.	T	C	1171.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.543;DP=1668;ExcessHet=0.119;FS=5.493;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=51.34;MQRankSum=-1.131;QD=4.26;ReadPosRankSum=-3.302;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,12:104:99:0|1:29383231_G_T:227,0,3827:29383231	15	0	2	2
chr16	29485391	29485402	GCTGAGGGTGGA	-	exonic	NPIPB12	.	nonframeshift deletion	NPIPB12:NM_001355401:exon8:c.1074_1085del:p.P359_A362del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449856855	0.0007	0.0009	0.0007	0.0007	0.0018	0.0007	0.0006	0.0009	0.0007	0.0016	0.0003	0.0030	0.0010	0.0006	0.0018	0.0006	0.0012	0.0006	0.0003	0.0002	0.0004	0.0002	0.0031	0.0001	8.732e-05	0.0001	8.367e-05	0.0002	0	0	0	0.0031	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	9846.09	54	chr16	29485390	.	CGCTGAGGGTGGA	C	9846.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.602;DP=1746;ExcessHet=5.3738;FS=10.688;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=30.61;MQRankSum=1.21;QD=11.14;ReadPosRankSum=-2.341;SOR=1.694	GT:AD:DP:GQ:PL	0/1:80,24:104:99:729,0,3219	17	0	2	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,62:143:99:0|1:29485610_ACACACTC_A:1464,0,2791:29485610	5	0	12	2
chr16	29981735	29981735	G	A	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_001252043:exon9:c.G730A:p.V244M,TAOK2:NM_004783:exon9:c.G730A:p.V244M,TAOK2:NM_016151:exon9:c.G730A:p.V244M	.	.	.	.	.	.	.	.	.	.	.	2885318	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0481822458988	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313958114	1.094e-05	1.094e-05	6.806e-06	1.513e-05	2.519e-05	6.48e-06	5.24e-06	6.52e-06	5.03e-06	0	0	0	2.519e-05	1.872e-05	0	1.169e-05	1.656e-05	0	1.315e-05	1.314e-05	0	2.692e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.081	0.50676	T	0.032	0.59732	D	0.006	0.52645	B	0.029	0.49728	B	0.000524	0.43581	D	0.197551	0.98766	0.40629	D	0.67	0.16346	N	-1.68	0.82897	D	-0.94	0.25118	N	0.35	0.39153	-0.0706	0.80767	T	0.510	0.81580	D	9	0.22917667	0.39840	T	0.048182	0.63260	D	0.265	0.57870	0.375	0.38830	0.643474553185	0.64052	0.6213533026920472	0.62068	1.1128815902	0.78098	0.586315274239	0.50976	T	0.136406	0.46876	T	0.0304487	0.55784	T	-0.194039	0.55211	T	0.293219195521297	0.24724	T	0.922808	0.72903	D	0.05616507	0.11014	0.07972735	0.17973	0.05616507	0.11013	0.07972735	0.17973	-3.508	0.20178	T	.	.	0.078	0.31558	B	.;.;.;.	.;.;.;.	4.220834	0.63840	24.6	0.99846036377931902	0.92576	0.93602	0.58667	D	AEFGBI	0.443894	0.50101	N	0.148046816893987	0.48720	3.080807	0.301039907253196	0.55599	3.722988	0.999997988841897	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	2.499000	0.45032	10.045000	0.83189	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.1409:0.8591:0.0	15.254	0.73267	82	0.96572	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	.	.	.	.	.	.	.	.	0.02632	2985.33	33	chr16	29981735	.	G	A	2985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=872;ExcessHet=0;FS=3.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.007;SOR=0.598	GT:AD:DP:GQ:PL	0/1:101,109:210:99:2999,0,2450	18	0	1	0
chr16	30005338	30005338	C	G	exonic	INO80E	.	nonsynonymous SNV	INO80E:NM_001304562:exon6:c.C514G:p.P172A,INO80E:NM_173618:exon7:c.C631G:p.P211A	.	456	1064	2	0	0	2	0.000938967	.	.	.	3444804	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0385600526936	0.0002	.	9.903e-05	0	0	0.0005	0	0	0	0.0002	7.12e-05	11	154602	rs149816207	8.524e-05	8.965e-05	7.963e-05	9.101e-05	0.0004	7.213e-05	6.713e-05	0.0002	0.0002	3.72e-05	0.0002	4.346e-05	0.0004	4.134e-05	0	7.946e-05	7.238e-05	8.604e-05	0.0001	0.0001	0.0002	9.483e-05	0.0010	8.225e-05	6.771e-05	0.0004	0.0003	0.0002	0	0	0	0.0010	9.477e-05	0	7.393e-05	0	0	0.284	0.15303	T	0.266	0.22627	T	0.017	0.17573	B	0.008	0.13708	B	0.040941	0.24004	N	0.349373	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.34	0.16799	N	0.177	0.34874	-1.0354	0.18731	T	0.091	0.34928	T	9	0.028668374	0.00997	T	0.03856	0.58293	D	0.037	0.09474	.	.	0.306377322295	0.30243	0.43118203701857877	0.43035	0.148091011239	0.16702	0.543117582798	0.44886	T	0.034239	0.23242	T	-0.155682	0.27427	T	-0.461403	0.26446	T	0.0322800302768019	0.02352	T	0.834817	0.50504	T	0.049432237	0.08776	0.04743244	0.06829	0.049432237	0.08776	0.04743244	0.06829	-4.406	0.29638	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	3.268058	0.44723	22.0	0.60931569670915464	0.06584	0.24322	0.22357	N	AEFDBCI	0.211206	0.33701	N	-0.605775096290207	0.18769	0.9771535	-0.551610830492511	0.20764	1.12017	0.999999999962332	0.74766	0.712529	0.81865	0	0.694456	0.67091	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.04	5.04	0.67293	3.381000	0.52188	7.649000	0.63599	0.581000	0.30040	0.117000	0.23121	0.998000	0.33993	0.002000	0.04165	0.0:1.0:0.0:0.0	15.867	0.78850	73	0.96914	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	342.33	36	chr16	30005338	.	C	G	342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.954;DP=733;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.38;SOR=0.569	GT:AD:DP:GQ:PL	0/1:18,19:37:99:356,0,420	18	0	1	0
chr16	30784160	30784160	C	G	exonic	ZNF629	.	nonsynonymous SNV	ZNF629:NM_001080417:exon3:c.G168C:p.K56N,ZNF629:NM_001345970:exon3:c.G126C:p.K42N	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0183768685445	0.0005	.	0.0007	0	0.0004	0	0.0002	0.0012	0.0029	0	0.0005692	88	154602	rs199766404	0.0014	0.0014	0.0015	0.0013	0.0017	0.0013	0.0013	0.0017	0.0016	0.0002	0.0004	0	0	0.0004	0	0.0017	0.0013	2.335e-05	0.0007	0.0007	0.0008	0.0006	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0002	0	0	9.416e-05	0	0.0014	0.0014	0	0.005	0.63226	D	0.102	0.38450	T	0.999	0.77913	D	0.972	0.72692	D	0.000448	0.44317	D	0.000000	0.975187	0.39167	D	0.805	0.20218	L	2.99	0.09262	T	-0.46	0.14978	N	0.278	0.31478	-1.0937	0.04944	T	0.041	0.17488	T	10	0.06311667	0.08175	T	0.018377	0.40424	T	0.083	0.24192	0.256	0.19689	0.179529687257	0.17594	0.3786129169604143	0.37776	2.21200435668	0.95776	0.530608594418	0.43120	T	0.003022	0.02422	T	-0.58395	0.00182	T	-0.652113	0.08806	T	0.0644549508798735	0.07850	T	0.712529	0.32403	T	0.21010895	0.43298	0.13203414	0.31693	0.21010895	0.43298	0.13203414	0.31692	-4.38	0.29285	T	.	.	0.248	0.48313	B	.	.	3.304798	0.45380	22.1	0.99764062876694248	0.85335	0.94034	0.59914	D	AEFDBI	0.293512	0.40412	N	0.224340279545603	0.52381	3.412624	0.207442535727153	0.50260	3.219908	0.989583846815906	0.31872	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.94	3.99	0.45527	1.940000	0.39851	3.968000	0.40802	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.9137:0.0:0.0863	11.851	0.51686	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4705.77	33	chr16	30784160	.	C	G	4705.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.272;DP=826;ExcessHet=0;FS=4.037;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.95;ReadPosRankSum=-1.14;SOR=0.733	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1137,0,1157	17	1	1	0
chr16	31330410	31330410	T	C	exonic	ITGAM	.	nonsynonymous SNV	ITGAM:NM_000632:exon27:c.T3163C:p.W1055R,ITGAM:NM_001145808:exon27:c.T3166C:p.W1056R	.	0	1521	1	0	0	1	0.000328623	.	.	.	1495563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.126189754377	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs771789895	6.161e-06	6.157e-06	1.09e-05	1.376e-06	7.201e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.201e-06	1.657e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999797	0.49177	D	2.84	0.82582	M	0.17	0.60485	T	-13.19	0.99906	D	0.842	0.83781	-0.1848	0.78059	T	0.395	0.74764	T	9	0.8254441	0.81727	D	0.12619	0.80782	D	0.406	0.71869	0.566	0.68768	0.891819750827	0.89075	0.6829164781526808	0.68230	1.34573443082	0.83979	0.623566269875	0.56232	T	0.568644	0.85681	D	0.184315	0.72440	D	0.026979	0.72082	D	0.999256432056427	0.96710	D	0.784922	0.42251	T	0.7677897	0.81915	0.6919991	0.81873	0.7677897	0.81917	0.6919991	0.81874	-7.843	0.60016	D	.	.	0.942	0.86117	P	.;.;.;.	.;.;.;.	4.467912	0.69602	25.4	0.9910062146311428	0.52446	0.92579	0.56044	D	AEFDBI	0.534290	0.55339	D	0.563429699510067	0.70902	5.570484	0.474225455893233	0.66288	4.93247	0.999999366023099	0.74766	0.676563	0.55306	0	0.633656	0.55848	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	1.990000	0.40338	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.277000	0.23942	0.0:0.0:0.0:1.0	11.590	0.50195	273	0.89298	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	8154.77	33	chr16	31330410	.	T	C	8154.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.035;DP=976;ExcessHet=0;FS=0.466;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.46;ReadPosRankSum=-0.252;SOR=0.66	GT:AD:DP:GQ:PL	0/1:80,95:175:99:2408,0,2294	17	1	1	0
chr16	31490211	31490211	G	T	exonic	SLC5A2	.	nonsynonymous SNV	SLC5A2:NM_003041:exon13:c.G1773T:p.E591D	Renal glucosuria, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	325185	not_specified|Familial_renal_glucosuria	MedGen:CN169374|MONDO:MONDO:0009297,MedGen:C3245525,OMIM:233100,Orphanet:69076	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.135	0.074082098114	0.0007	.	0.0012	9.66e-05	0	0	0.0023	0.0018	0.0011	6.064e-05	0.0010931	169	154602	rs149525864	0.0012	0.0012	0.0012	0.0012	0.0015	0.0012	0.0011	0.0014	0.0014	2.987e-05	0.0002	0.0003	0	0.0013	0	0.0015	0.0009	2.319e-05	0.0015	0.0015	0.0015	0.0014	0.0028	0.0013	0.0012	0.0025	0.0023	9.619e-05	0	0.0003	0	0	0.0020	0	0.0028	0.0009	0	0.435	0.09401	T	0.305	0.20037	T	0.001	0.07471	B	0.001	0.04355	B	0.014677	0.28464	N	0.302566	0.998968	0.45775	D	-0.125	0.04555	N	-3.02	0.92258	D	-0.02	0.07299	N	0.245	0.27673	-0.6166	0.64130	T	0.493	0.80762	T	10	0.010189235	0.00228	T	0.074082	0.71952	D	0.135	0.36572	0.208	0.12497	0.711965941606	0.70944	0.38141189348611615	0.38056	0.204082279664	0.22826	0.370484679937	0.20902	T	0.138449	0.47195	T	-0.39461	0.02511	T	-0.336716	0.40717	T	0.0150184032970082	0.00323	T	0.591441	0.21800	T	0.025192397	0.01430	0.026468305	0.00737	0.025192397	0.01429	0.026468305	0.00737	-3.405	0.15123	T	.	.	0.082	0.08560	B	.	.	0.078869	0.04854	1.448	0.89576584828639183	0.18916	0.17236	0.19749	N	AEFDBCI	0.195168	0.32221	N	-0.995062809083757	0.08709	0.4093748	-1.01500296336041	0.09455	0.4704862	6.70406088090842E-4	0.07575	0.732398	0.92422	0	0.643519	0.57511	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.22	-0.491	0.11444	-0.420000	0.07127	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.330000	0.25202	0.3604:0.1467:0.4929:0.0	4.870	0.12987	313	0.87327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07895	4834.77	34	chr16	31490211	.	G	T	4834.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.83;DP=803;ExcessHet=0;FS=0.617;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.13;ReadPosRankSum=0.011;SOR=0.626	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1310,0,1221	17	1	1	0
chr16	53231492	53231492	A	C	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon8:c.A938C:p.K313T,CHD9:NM_001352157:exon8:c.A938C:p.K313T,CHD9:NM_001352158:exon8:c.A839C:p.K280T,CHD9:NM_001382354:exon8:c.A839C:p.K280T,CHD9:NM_001382355:exon8:c.A839C:p.K280T,CHD9:NM_001308319:exon9:c.A2360C:p.K787T,CHD9:NM_001352127:exon9:c.A2360C:p.K787T,CHD9:NM_001382353:exon9:c.A2360C:p.K787T,CHD9:NM_025134:exon9:c.A2360C:p.K787T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0262262325266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28271	T	0.392	0.17964	T	0.995	0.67487	D	0.946	0.68276	D	0.000029	0.55875	D	0.000000	0.999996	0.58761	D	0.59	0.15444	N	-0.57	0.71307	T	-2.21	0.49684	N	0.331	0.42541	-0.5508	0.66756	T	0.331	0.69893	T	10	0.33516854	0.50679	T	0.026226	0.49152	D	0.283	0.60100	0.474	0.55020	0.571921507275	0.56858	0.6474343612593478	0.64678	1.43684972871	0.85899	0.741167664528	0.73145	T	0.237158	0.69019	T	0.0451226	0.57712	T	-0.172961	0.57172	T	0.903328537940979	0.55650	D	0.90401	0.67067	D	0.17044064	0.37619	0.13040207	0.31333	0.17044064	0.37618	0.13040207	0.31332	-4.758	0.34098	T	.	.	0.25	0.48469	B	.;.;.;.;.	.;.;.;.;.	4.144355	0.62115	24.4	0.99345278151944727	0.60331	0.98942	0.88948	D	AEFBI	0.652267	0.62573	D	0.132087736485955	0.47965	3.014938	0.264424238124749	0.53473	3.516159	0.999976106275562	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	5.090000	0.64332	11.131000	0.86801	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.975	0.70917	179	0.93046	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.;.;Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	33	chr16	53231492	.	A	C	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.583;DP=714;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.003;SOR=0.836	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1073,0,1272	18	0	1	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S,NLRC5:NM_001384959:exon29:c.G3859A:p.G1287S,NLRC5:NM_001384960:exon29:c.G3859A:p.G1287S,NLRC5:NM_001330552:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384951:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384954:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384956:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384965:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384966:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384967:exon30:c.G3946A:p.G1316S,NLRC5:NM_001384968:exon30:c.G3943A:p.G1315S,NLRC5:NM_001384971:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384972:exon30:c.G3709A:p.G1237S,NLRC5:NM_001384950:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384952:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384953:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384955:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384957:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384961:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384962:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384963:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384964:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384969:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384970:exon31:c.G4033A:p.G1345S,NLRC5:NM_032206:exon31:c.G4036A:p.G1346S	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	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	0.003033	0.000000	0.004076	0.002924	0.000000	0.000000	0.003086	0.003788	0.07895	4185.77	35	chr16	57061497	.	G	A	4185.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.69;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.38;ReadPosRankSum=1.14;SOR=0.671	GT:AD:DP:GQ:PL	0/1:47,37:84:99:1005,0,1107	17	1	1	0
chr16	57727369	57727369	C	A	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon14:c.C1961A:p.T654N,DRC7:NM_032269:exon15:c.C2156A:p.T719N,DRC7:NM_001289162:exon16:c.C2156A:p.T719N	.	425	1082	15	0	0	15	0.00688389	.	.	.	2382995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0173116942662	0.0005	0.000798722	0.0009	0.0002	0.0015	0.0001	0.0002	0.0012	0.0011	0.0008	0.0008991	139	154602	rs140762606	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0013	0.0015	0	9.439e-05	0.0177	0.0007	0.0013	0.0008	0.0009	0.0009	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0009	0.0002	0.0219	0.0016	0.0023	0.0002	0	0	0.0010	0.0005	0.0004	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.997	0.88582	D	0.002772	0.35968	N	0.267208	0.999994	0.58761	D	.	.	.	2.9	0.11839	T	-3.81	0.74193	D	0.348	0.39962	-0.9171	0.45945	T	0.116	0.41031	T	10	0.0111756325	0.00245	T	0.017312	0.38957	T	0.190	0.46781	.	.	0.315903272564	0.31202	0.6341422282905357	0.63348	0.262623937004	0.28828	0.705690860748	0.67968	T	0.261101	0.63255	T	-0.355302	0.04402	T	-0.30777	0.43898	T	0.0801970873725517	0.10012	T	0.889011	0.63166	D	0.76812834	0.81935	0.80379045	0.88508	0.76812834	0.81937	0.80379045	0.88508	-3.826	0.21193	T	.	.	0.360	0.58919	A	.;.;.	.;.;.	3.953076	0.57923	23.9	0.99381531878884688	0.61891	0.92372	0.55559	D	AEFDI	0.504910	0.53627	D	0.564766054813788	0.70986	5.582712	0.469142162123264	0.65954	4.889665	0.999757376485812	0.42595	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	2.832000	0.47853	5.850000	0.50329	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	16.099	0.80961	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	0.006048	0.000000	0.008152	0.014620	0.000000	0.008621	0.003067	0.003788	0.05263	2780.83	34	chr16	57727369	.	C	A	2780.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=862;ExcessHet=0.119;FS=0.452;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.87;SOR=0.659	GT:AD:DP:GQ:PL	0/1:84,55:139:99:1390,0,2190	17	0	2	0
chr16	57977823	57977823	C	T	exonic	TEPP	.	nonsynonymous SNV	TEPP:NM_199046:exon2:c.C7T:p.R3C,TEPP:NM_199456:exon2:c.C7T:p.R3C	.	429	1091	2	0	0	2	0.000915751	.	.	.	2220196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.0264450815533	0.0002	0.000199681	0.0002	0.0002	0	0	0.0002	0.0003	0	0	0.0001552	24	154602	rs201920869	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.95e-05	0	0	7.491e-05	0	0.0002	0.0001	0	0.0001	0.0001	8.992e-05	0.0001	0.0002	6.505e-05	5.318e-05	9.047e-05	7.011e-05	7.215e-05	0	6.536e-05	0	0	9.418e-05	0	0.0002	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.938	0.67350	D	0.842023	0.09026	N	0.914461	0.552922	0.31319	N	1.795	0.47270	L	0.53	0.55090	T	-3.33	0.66206	D	0.46	0.49692	-0.5712	0.65967	T	0.304	0.67492	T	10	0.28937495	0.46519	T	0.026445	0.49355	D	0.131	0.35738	.	.	0.531146924565	0.52762	0.5455840657894095	0.54484	0.384708731815	0.39768	0.284766107798	0.08166	T	0.21795	0.58054	T	-0.299233	0.08733	T	-0.361627	0.37863	T	0.22304179209569	0.21615	T	0.793521	0.43550	T	0.21526146	0.43954	0.2146544	0.46025	0.21526146	0.43954	0.2146544	0.46024	-4.814	0.35814	T	.	.	0.143	0.31507	B	.;.	.;.	4.326713	0.66269	24.9	0.99916820887903557	0.98449	0.53211	0.29317	D	AEFDGBHCI	0.194255	0.32135	N	0.378904428683413	0.60279	4.215278	0.28915306999717	0.54906	3.654315	0.999999999997933	0.74766	0.520426	0.21595	0	0.615948	0.52940	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	4.43	3.46	0.38718	2.415000	0.44289	2.714000	0.34259	0.479000	0.22080	0.992000	0.37556	0.592000	0.25676	0.540000	0.29938	0.0:0.8933:0.0:0.1067	9.036	0.35449	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	569.33	33	chr16	57977823	.	C	T	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.425;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-1.366;SOR=0.836	GT:AD:DP:GQ:PL	0/1:13,21:34:99:583,0,327	18	0	1	0
chr16	58164115	58164115	C	T	exonic	CSNK2A2	.	nonsynonymous SNV	CSNK2A2:NM_001896:exon11:c.G1009A:p.A337T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00609528437923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.14645	T	0.317	0.20680	T	0.0	0.02946	B	0.001	0.04355	B	0.076523	0.21158	N	0.525534	0.790401	0.34379	D	0.225	0.09600	N	-0.2	0.66113	T	-0.34	0.12661	N	0.152	0.15609	-0.9498	0.41006	T	0.131	0.44088	T	10	0.107343554	0.19935	T	0.006095	0.15934	T	0.076	0.22200	0.417	0.45709	0.504470153462	0.50083	0.3083720343010028	0.30750	1.11560658413	0.78161	0.446868777275	0.31517	T	0.271032	0.64334	T	-0.158912	0.26928	T	-0.466043	0.25943	T	0.101115866156107	0.12479	T	0.79802	0.45382	T	0.030182857	0.02639	0.045773044	0.06232	0.030182857	0.02638	0.045773044	0.06231	-3.778	0.20476	T	.	.	0.066	0.02313	B	.;.	.;.	2.505942	0.32358	19.02	0.85743226592702881	0.16084	0.87726	0.47363	D	AEFGBI	0.172711	0.29975	N	-0.3248336662167	0.28208	1.553945	-0.157429906021511	0.33123	1.891491	0.365583535303602	0.19819	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	2.66	0.30672	0.585000	0.23580	0.460000	0.18609	0.599000	0.40250	0.743000	0.29058	0.037000	0.21475	1.000000	0.97212	0.449:0.4627:0.0:0.0883	6.601	0.21895	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1289.33	35	chr16	58164115	.	C	T	1289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.939;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.298;SOR=0.73	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1303,0,1007	18	0	1	0
chr16	66549940	66549940	G	T	exonic	TK2	.	nonsynonymous SNV	TK2:NM_001172644:exon1:c.C122A:p.P41H,TK2:NM_001172645:exon1:c.C122A:p.P41H,TK2:NM_004614:exon1:c.C122A:p.P41H	Mitochondrial DNA depletion syndrome 2 (myopathic type), Autosomal recessive	25	1487	10	0	0	10	0.00335121	0	0.086	YES	211735	not_provided|Mitochondrial_DNA_depletion_syndrome,_myopathic_form|TK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0012301,MedGen:C3149750,OMIM:609560,Orphanet:254875|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.371	.	0.0008	0.000599042	0.0018	0	0.0066	0	0	0.0015	0.0185	0.0015	0.0006015	93	154602	rs201904720	0.0007	0.0007	0.0007	0.0007	0.0063	0.0007	0.0006	0.0042	0.0035	0.0004	0.0008	0.0109	0	0	0.0063	0.0005	0.0020	0.0005	0.0008	0.0009	0.0008	0.0009	0.0014	0.0007	0.0007	0.0010	0.0008	0.0002	0	0.0014	0.0101	0	0	0.0103	0.0009	0.0005	0.0006	0.005	0.63226	D	0.133	0.43721	T	0.553	0.38185	P	0.204	0.37039	B	0.000017	0.00162	N	28.589000	0.99994	0.51968	D	2.415	0.69758	M	-5.43	0.99092	D	-0.59	0.37375	N	0.252	0.42639	0.444	0.89738	D	0.906	0.96899	D	10	0.0077205896	0.00175	T	.	.	.	0.371	0.69016	.	.	0.923809900003	0.92303	0.4591722704907691	0.45835	0.635896179863	0.57386	0.582099556923	0.50381	T	0.386237	0.74745	T	-0.147567	0.28693	T	0.0122026	0.71124	D	0.0506846017660106	0.05619	T	0.683132	0.30590	T	0.12949853	0.30243	0.13005643	0.31258	0.12949853	0.30243	0.13005643	0.31257	-5.299	0.40765	T	.	.	0.093	0.16231	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.956663	0.13331	9.833	0.99049440295684388	0.51207	0.16599	0.19463	N	AEFDBHCIJ	0.107403	0.21399	N	-0.613106937451548	0.18549	0.9639462	-0.765595603853664	0.15340	0.8062798	0.999999999999254	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.23	-0.0437	0.13187	0.160000	0.16278	0.096000	0.14582	-0.169000	0.11342	0.190000	0.24188	0.082000	0.22400	0.006000	0.07323	0.1231:0.3822:0.4947:0.0	5.534	0.16287	298	0.88068	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006472	0.010870	0.007022	0.014493	0.000000	0.000000	0.000000	0.007576	0.02632	273.33	14	chr16	66549940	.	G	T	273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.961;DP=564;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=1.05;SOR=0.787	GT:AD:DP:GQ:PL	0/1:21,12:33:99:287,0,627	18	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;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	.	.	.	.	.	.	.	.	0.1389	441.61	39	chr16	66823281	.	T	C	441.61	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.833;DP=1524;ExcessHet=1.3;FS=221.541;InbreedingCoeff=-0.1732;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.452;SOR=10.787	GT:AD:DP:GQ:PL	0/1:85,37:122:99:106,0,1708	13	0	5	1
chr16	67234422	67234422	G	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon12:c.C1370T:p.A457V,FHOD1:NM_001318202:exon14:c.C1448T:p.A483V	.	425	1095	2	0	0	2	0.000912409	.	.	.	2758893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.0142490413683	.	.	7.744e-05	0	0	0.0009	0	0	0	7.362e-05	4.53e-05	7	154602	rs761027309	1.648e-05	2.052e-05	1.23e-05	2.071e-05	0.0002	1.115e-05	9.37e-06	0.0001	8.799e-05	2.995e-05	0	0	0.0002	0	0	7.201e-06	0	6.988e-05	6.57e-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	0.1	0.30515	T	0.198	0.27767	T	0.033	0.20350	B	0.005	0.11217	B	0.297720	0.14654	N	0.652496	0.972655	0.81001	D	1.3	0.32576	L	1.59	0.28836	T	-1.9	0.44284	N	0.187	0.20395	-1.1046	0.03578	T	0.051	0.21844	T	10	0.07249811	0.10829	T	0.014249	0.34240	T	0.029	0.06676	0.405	0.43738	0.540107908424	0.53663	0.3973447049394745	0.39649	0.206165029416	0.23039	0.413946419954	0.27002	T	0.062619	0.31963	T	-0.433496	0.01412	T	-0.515525	0.20750	T	0.0559468306601048	0.06514	T	0.677732	0.28664	T	0.052508757	0.09804	0.07346318	0.15966	0.052508757	0.09804	0.07346318	0.15966	-4.736	0.33836	T	.	.	0.091	0.13080	B	.	.	2.334327	0.29904	18.27	0.99815832714435981	0.89885	0.82447	0.41673	D	AEFDBHCI	0.179576	0.30687	N	-0.292260484433579	0.29447	1.633001	-0.126466117014227	0.34326	1.973309	0.999385581360282	0.39415	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.18	4.23	0.49319	2.558000	0.45541	2.341000	0.32254	0.662000	0.56354	0.996000	0.39380	0.996000	0.32793	0.976000	0.56436	0.0902:0.0:0.9098:0.0	10.560	0.44329	25	0.98345	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	34	chr16	67234422	.	G	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.516;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.575;SOR=0.551	GT:AD:DP:GQ:PL	0/1:23,24:47:99:689,0,637	18	0	1	0
chr16	67992160	67992160	C	T	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001369657:exon3:c.G424A:p.D142N,DPEP2:NM_022355:exon4:c.G424A:p.D142N	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00164522888141	0.0029	0.00139776	0.0027	0.0008	0.0022	0	0.0036	0.0036	0.0044	0.0015	0.0025873	400	154602	rs142359415	0.0028	0.0028	0.0029	0.0028	0.0120	0.0028	0.0027	0.0097	0.0089	0.0005	0.0027	0.0013	0	0.0029	0.0120	0.0031	0.0031	0.0012	0.0029	0.0029	0.0030	0.0028	0.0046	0.0027	0.0026	0.0042	0.0040	0.0006	0.0011	0.0030	0.0009	0	0.0026	0.0170	0.0046	0.0071	0.0010	0.842	0.02796	T	1.0	0.01155	T	0.001	0.07471	B	0.021	0.19346	B	0.018869	0.27384	N	0.415390	0.804486	0.29075	N	0.79	0.19579	N	1.94	0.22678	T	0.14	0.05405	N	0.158	0.16447	-1.0618	0.11312	T	0.020	0.08453	T	10	0.005759686	0.00128	T	0.001645	0.02676	T	0.025	0.05312	.	.	0.226586394389	0.22295	0.4884905136714286	0.48769	.	.	0.316417008638	0.12878	T	0.015481	0.12979	T	-0.625547	0.00102	T	-0.666766	0.07817	T	0.00324620136449302	0.00034	T	0.737326	0.35372	T	0.067462735	0.14612	0.06642359	0.13606	0.067462735	0.14612	0.06642359	0.13605	-3.789	0.20640	T	.	.	0.098	0.29670	B	.;.;.	.;.;.	2.116266	0.26937	17.29	0.76792664957519874	0.11611	0.58015	0.30529	D	AEFDBI	0.149344	0.27342	N	-0.556688396367197	0.20274	1.067604	-0.418316006404348	0.24460	1.339529	0.999906740539098	0.45458	0.615465	0.37627	0	0.633656	0.55848	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	4.11	3.16	0.35406	1.049000	0.30001	1.061000	0.23721	-0.180000	0.10397	1.000000	0.71638	0.228000	0.23763	0.741000	0.35472	0.0:0.7844:0.0:0.2156	6.320	0.20419	10	0.99061	.;.;.	.	.	.	.	rs142359415	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015121	0.035354	0.010870	0.008772	0.000000	0.000000	0.024390	0.018939	0.05263	4850.83	37	chr16	67992160	.	C	T	4850.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.26;DP=916;ExcessHet=0.119;FS=1.914;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.305;SOR=0.81	GT:AD:DP:GQ:PL	0/1:59,69:128:99:2016,0,1650	17	0	2	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	125.37	209	chr16	68828281	.	G	C	125.37	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.919;DP=2448;ExcessHet=0.3672;FS=188.579;InbreedingCoeff=-0.2063;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=-0.861;SOR=8.813	GT:AD:DP:GQ:PL	0/1:98,28:126:72:72,0,2040	9	0	3	7
chr16	71977263	71977263	G	C	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon11:c.C1732G:p.L578V	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00179712	0.0028	0.0014	0	0	0.0037	0.0045	0.0165	0.0011	0.0010931	169	154602	rs139831076	0.0047	0.0047	0.0048	0.0046	0.0054	0.0046	0.0046	0.0053	0.0052	0.0005	0.0041	0.0027	5.608e-05	0.0033	0.0034	0.0054	0.0043	0.0011	0.0037	0.0037	0.0038	0.0035	0.0061	0.0034	0.0033	0.0056	0.0054	0.0010	0	0.0036	0.0017	0	0.0029	0	0.0061	0.0024	0.0012	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.34659	.	.	.	.	.	.	.	0.01028201	0.00229	T	.	.	.	.	.	.	.	0.144782658237	0.14088	0.38083282148693404	0.37998	.	.	0.379869073629	0.22239	T	0.085117	0.37429	T	-0.239699	0.15387	T	-0.11378	0.62309	T	.	.	.	0.510849	0.16306	T	0.10807859	0.25556	0.28520867	0.54523	0.10807859	0.25556	0.28520867	0.54522	-8.603	0.65109	D	.	.	0.208	0.43558	B	.	.	2.638330	0.34320	19.59	0.75063295232350136	0.10931	0.88356	0.48246	D	AEFDI	.	.	.	.	.	.	.	.	.	0.0338628262973798	0.14126	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.623454	0.41225	5.1	4.15	0.47978	2.721000	0.46930	3.660000	0.39404	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	0.0895:0.0:0.9105:0.0	11.300	0.48536	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001222	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3553.83	34	chr16	71977263	.	G	C	3553.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.128;DP=916;ExcessHet=0.119;FS=6.199;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.761;SOR=1.073	GT:AD:DP:GQ:PL	0/1:62,73:135:99:1960,0,1700	17	0	2	0
chr16	80684984	80684984	C	A	exonic	CDYL2	.	nonsynonymous SNV	CDYL2:NM_152342:exon2:c.G170T:p.G57V	.	420	1056	45	1	0	47	0.0217693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0034	0.00319489	0.0052	0.0007	0.0037	0.0001	0.0005	0.0047	0.0055	0.0156	0.0047477	734	154602	rs148308758	0.0046	0.0046	0.0042	0.0051	0.0165	0.0045	0.0045	0.0149	0.0146	0.0005	0.0048	0.0114	0	0.0003	0.0165	0.0040	0.0060	0.0156	0.0034	0.0035	0.0034	0.0034	0.0098	0.0032	0.0031	0.0076	0.0068	0.0009	0	0.0073	0.0124	0.0002	0.0006	0.0034	0.0039	0.0061	0.0098	0.084	0.32929	T	0.186	0.28860	T	0.464	0.36423	P	0.471	0.46788	P	0.000001	0.84330	D	0.057409	1	0.81001	D	0.69	0.16971	N	1.0	0.41392	T	-1.52	0.36980	N	0.519	0.55626	-0.9628	0.38645	T	0.079	0.31435	T	10	0.00868392	0.00197	T	.	.	.	.	.	.	.	0.221890330934	0.21812	0.33187914881676656	0.33100	0.703137444835	0.61250	0.513815522194	0.40756	T	0.307381	0.67953	T	-0.319419	0.06945	T	-0.218626	0.52870	T	0.0222606018164842	0.00939	T	0.888211	0.64041	D	0.6573661	0.75758	0.38849276	0.63692	0.6573661	0.75759	0.38849276	0.63692	-3.818	0.21074	T	.	.	0.144	0.59205	B	.;.;.;.	.;.;.;.	3.807021	0.54888	23.5	0.99603623835571997	0.74338	0.98610	0.84669	D	AEFDGBI	0.813955	0.73630	D	0.248507690084439	0.53564	3.524829	0.375001167766425	0.60028	4.186012	0.999988208958161	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.741000	0.61790	7.357000	0.58325	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	17.649	0.88060	952	0.10565	Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain;Chromo/chromo shadow domain|Chromo/chromo shadow domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.015152	0.016304	0.008772	0.000000	0.008621	0.012195	0.037879	0.05263	4360.83	45	chr16	80684984	.	C	A	4360.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.251;DP=1152;ExcessHet=0.119;FS=0.37;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.385;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,83:192:99:1|0:80684982_A_G:2124,0,4267:80684982	17	0	2	0
chr16	81912673	81912673	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon19:c.A2011G:p.I671V	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	3	1438	76	5	0	86	0.0290344	.	.	.	433831	not_provided|Familial_cold_autoinflammatory_syndrome_3	MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.306	.	0.0018	0.00499201	0.0061	0.0002	0.0017	0	0.0002	0.0043	0.0054	0.0277	0.0050193	776	154602	rs150833842	0.0036	0.0036	0.0029	0.0043	0.0249	0.0035	0.0035	0.0240	0.0237	0.0007	0.0021	0.0090	2.521e-05	0.0011	0.0210	0.0021	0.0049	0.0249	0.0023	0.0023	0.0020	0.0026	0.0228	0.0021	0.0020	0.0194	0.0181	0.0006	0	0.0016	0.0046	0	0.0007	0.0170	0.0023	0.0028	0.0228	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.046780	0.999998	0.58761	D	-0.83	0.01527	N	-2.54	0.89496	D	0.39	0.03521	N	0.273	0.30914	-0.7113	0.59888	T	0.248	0.61774	T	10	0.014680892	0.00308	T	.	.	.	0.306	0.62729	.	.	0.458321483586	0.45457	0.3605344681693968	0.35967	0.233159527858	0.25850	0.529252409935	0.42928	T	0.372621	0.73677	T	-0.365975	0.03803	T	-0.27955	0.46849	T	0.00681991507380742	0.00077	T	0.828817	0.49341	T	0.09416458	0.22132	0.059568785	0.11203	0.06277723	0.13149	0.060827643	0.11646	-4.007	0.23909	T	.	.	0.136	0.35767	B	.;.	.;.	1.439151	0.18583	13.82	0.45145866147430147	0.03522	0.86997	0.46408	D	AEFDBCI	0.420339	0.48720	N	-0.632609026884171	0.17970	0.9292605	-0.410543867457214	0.24687	1.353322	0.999848504764815	0.43971	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.11	4.01	0.45821	3.139000	0.50273	2.718000	0.34289	0.668000	0.69082	0.994000	0.38300	0.980000	0.30356	0.583000	0.30967	0.9082:0.0:0.0918:0.0	9.248	0.36697	929	0.16858	SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain|PLC-gamma, C-terminal SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.000000	0.023098	0.017647	0.100000	0.008621	0.021341	0.015152	0.07895	1963.79	33	chr16	81912673	.	A	G	1963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.274;DP=711;ExcessHet=0.3672;FS=1.304;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.748;SOR=0.573	GT:AD:DP:GQ:PL	0/1:23,26:49:99:641,0,629	16	0	3	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	720.36	135	chr16	88436039	.	G	C	720.36	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.799;DP=2650;ExcessHet=1.3;FS=183.724;InbreedingCoeff=-0.1514;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.79;SOR=11.675	GT:AD:DP:GQ:PL	0/1:132,54:186:99:159,0,2089	14	0	5	0
chr16	88436564	88436578	CTTCCCGGGAACACC	-	exonic	ZNF469	.	nonframeshift deletion	ZNF469:NM_001367624:exon3:c.9094_9108del:p.L3032_T3036del	Brittle cornea syndrome 1, Autosomal recessive	0	1473	47	2	0	51	0.017017	.	.	.	132460	not_provided|Keratoconus_1|Ehlers-Danlos_syndrome|not_specified|Cardiovascular_phenotype|Brittle_cornea_syndrome_1	MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0046	0.0012	0.0028	0	0	0.0043	0.0060	0.0060	0.0003842	10	26028	rs1483100952	0.0025	0.0024	0.0023	0.0028	0.0212	0.0025	0.0024	0.0182	0.0170	0.0012	0.0022	0.0050	0	0.0002	0.0212	0.0023	0.0033	0.0061	0.0021	0.0021	0.0018	0.0023	0.0073	0.0019	0.0018	0.0054	0.0047	0.0005	0.0055	0.0020	0.0035	0.0002	9.406e-05	0.0272	0.0029	0.0014	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	7059.79	62	chr16	88436563	.	GCTTCCCGGGAACACC	G	7059.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1329;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.613;SOR=0.648	GT:AD:DP:GQ:PL	0/1:123,101:224:99:3867,0,4842	17	0	2	0
chr16	89228044	89228044	A	G	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.A1672G:p.I558V,ZNF778:NM_001201407:exon7:c.A1756G:p.I586V,ZNF778:NM_001378881:exon7:c.A1756G:p.I586V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00151873335189	.	.	2.483e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs756433028	6.958e-06	6.859e-06	8.299e-06	5.6e-06	0.0004	3.52e-06	2.57e-06	6.159e-05	3.816e-05	0.0002	0	0	0	0	0.0004	2.735e-06	0	0	3.942e-05	3.94e-05	5.138e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.03	0.55759	D	0.048	0.22112	B	0.048	0.24975	B	.	.	.	.	0.999814	0.20249	N	-0.145	0.04423	N	2.31	0.16794	T	0.79	0.01893	N	0.071	0.05414	-0.9932	0.31775	T	0.022	0.09559	T	9	0.037476003	0.02105	T	0.001519	0.02369	T	0.078	0.22779	.	.	0.445614145163	0.44183	0.005156949443750736	0.00486	0.00542763190381	0.00476	0.269835710526	0.06120	T	0.004108	0.03522	T	-0.529211	0.00388	T	-0.701759	0.05730	T	0.0772234552504507	0.09628	T	0.050195	0.00356	T	0.012731528	0.00040	0.027258797	0.00865	0.012731528	0.00040	0.027258797	0.00865	-2.848	0.08634	T	.	.	0.106	0.19760	B	.;.;.	.;.;.	0.772591	0.11424	8.034	0.99853216924116295	0.93191	0.00429	0.02107	N	AEBHCI	0.028654	0.02565	N	-0.506205424172264	0.21879	1.164341	-0.444534217242911	0.23705	1.294093	0.459895371663088	0.20615	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.11	1.11	0.19640	1.703000	0.37465	-20.000000	0.00162	-0.087000	0.16196	0.794000	0.29644	0.000000	0.08366	0.735000	0.35267	0.7279:0.0:0.2721:0.0	2.996	0.05632	819	0.41190	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	.	.	.	.	.	.	.	.	0.05263	3279.83	165	chr16	89228044	.	A	G	3279.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.79;DP=2337;ExcessHet=0.119;FS=0.456;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.323;SOR=0.744	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1510,0,1818	17	0	2	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1333	577.64	76	chr16	89284161	.	A	G	577.64	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-2.147;DP=2246;ExcessHet=0.7564;FS=117.529;InbreedingCoeff=-0.2077;MLEAC=5;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=1.12;ReadPosRankSum=1.15;SOR=8.675	GT:AD:DP:GQ:PL	0/1:90,29:119:99:165,0,2123	11	0	4	4
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.1053	2783.43	33	chr16	89767168	.	G	C	2783.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.568;DP=751;ExcessHet=0.7564;FS=0.482;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.284;SOR=0.739	GT:AD:DP:GQ:PL	0/1:25,23:48:99:566,0,579	15	0	4	0
chr17	4542708	4542708	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon21:c.C2926T:p.R976W,MYBBP1A:NM_014520:exon21:c.C2926T:p.R976W	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.063451191613	0.0015	0.000399361	0.0015	0.0010	0.0003	0	0	0.0022	0	0.0013	0.0015977	247	154602	rs143029758	0.0026	0.0026	0.0026	0.0026	0.0032	0.0025	0.0025	0.0031	0.0030	0.0005	0.0002	0.0001	0	0.0002	0.0002	0.0032	0.0011	0.0014	0.0018	0.0018	0.0017	0.0018	0.0032	0.0016	0.0015	0.0028	0.0027	0.0008	0.0044	0.0003	0	0	0	0	0.0032	0.0014	0.0012	0.029	0.45756	D	0.019	0.59159	D	0.986	0.61523	D	0.711	0.54536	P	0.764002	0.06557	N	1.100790	1	0.08975	N	0.345	0.11182	N	-0.44	0.69777	T	-2.07	0.47344	N	0.337	0.37820	-0.8616	0.51147	T	0.252	0.62131	T	10	0.022168696	0.00547	T	0.063451	0.68972	D	0.251	0.56024	.	.	0.940336110857	0.93971	0.23521108640985358	0.23436	.	.	0.223103106022	0.01497	T	0.240351	0.60865	T	-0.396924	0.02425	T	-0.34472	0.39809	T	0.0241436254749722	0.01163	T	0.658834	0.26791	T	0.05392518	0.10274	0.033472173	0.02247	0.05392518	0.10273	0.033472173	0.02247	-8.132	0.61966	D	.	.	0.122	0.25462	B	.;.	.;.	2.400929	0.30846	18.56	0.99810453230533025	0.89442	0.16760	0.19536	N	AEFDBCI	0.189638	0.31689	N	-0.384000778784385	0.26038	1.418065	-0.549621658930158	0.20816	1.123263	0.0125205971477165	0.12338	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.7	1.05	0.19280	-0.244000	0.08921	2.706000	0.34198	-0.119000	0.14319	0.000000	0.06391	0.846000	0.27345	0.000000	0.00833	0.0954:0.3139:0.4294:0.1613	3.373	0.06806	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1545.33	34	chr17	4542708	.	G	A	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=702;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=0.526;SOR=0.9	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1559,0,847	18	0	1	0
chr17	4896477	4896477	G	A	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_015716:exon29:c.G3553A:p.D1185N,MINK1:NM_001024937:exon30:c.G3604A:p.D1202N,MINK1:NM_001321236:exon30:c.G3388A:p.D1130N,MINK1:NM_153827:exon30:c.G3664A:p.D1222N,MINK1:NM_170663:exon30:c.G3577A:p.D1193N	.	.	.	.	.	.	.	.	.	.	.	2757346	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.0297635645372	.	0.000199681	5.796e-05	0.0002	8.639e-05	0	0	2.997e-05	0	0.0001	6.47e-05	10	154602	rs369985962	3.694e-05	3.694e-05	3.812e-05	3.576e-05	0.0002	2.894e-05	2.592e-05	3.257e-05	2.919e-05	2.987e-05	2.237e-05	0	5.038e-05	0	0.0002	4.227e-05	1.656e-05	1.159e-05	5.256e-05	5.25e-05	5.14e-05	5.376e-05	0.0002	2.557e-05	1.83e-05	7.879e-05	5.58e-05	0.0002	0	0	0	0.0002	0	0	0	0	0	0.176	0.22312	T	0.665	0.12281	T	0.966	0.56202	D	0.575	0.50032	P	0.000005	0.62929	D	0.060079	1	0.81001	D	0.88	0.21560	L	-0.91	0.75108	T	-4.29	0.76414	D	0.543	0.57006	-0.6601	0.62271	T	0.276	0.64824	T	10	0.29714325	0.47276	T	0.029764	0.52214	D	0.366	0.68582	.	.	0.626997901271	0.62395	0.4529254262954543	0.45210	1.37614566276	0.84668	0.659943342209	0.61401	T	0.220943	0.58437	T	-0.298298	0.08821	T	-0.386826	0.34924	T	0.365359604358673	0.27617	T	0.962554	0.86020	D	0.35113075	0.57155	0.2634706	0.52154	0.35113075	0.57155	0.2634706	0.52153	-5.823	0.44774	T	.	.	0.177	0.38711	B	.;.;.;.	.;.;.;.	5.388686	0.90281	31	0.99714011111210954	0.81563	0.96380	0.68855	D	AEFGBCI	0.928528	0.91287	D	0.185900196828528	0.50521	3.241401	0.263156043411197	0.53402	3.509294	0.999999999884341	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	6.902000	0.75519	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.916	0.70440	273	0.89298	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;.;.;Citron homology (CNH) domain|Citron homology (CNH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1810.33	34	chr17	4896477	.	G	A	1810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.59;DP=793;ExcessHet=0;FS=3.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.303;SOR=1.023	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1824,0,2017	18	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,123:126:99:.:.:4166,338,0:.	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,123:126:99:.:.:4166,338,0:.	1	11	5	2
chr17	5139447	5139447	C	T	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon14:c.C1271T:p.T424M,USP6:NM_001304284:exon22:c.C1271T:p.T424M	.	410	1111	1	0	0	1	0.000449843	.	.	.	704232	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.051	.	0.0082	0.00798722	0.0026	0.0281	0.0014	0	0	6.007e-05	0.0011	0	0.0023674	366	154602	rs114887037	0.0007	0.0007	0.0008	0.0006	0.0240	0.0007	0.0006	0.0226	0.0221	0.0240	0.0019	0	0	0	0.0006	2.968e-05	0.0015	2.32e-05	0.0074	0.0074	0.0075	0.0072	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0041	0	0	0	0	8.82e-05	0.0076	0	0.001	0.78490	D	0.015	0.61642	D	0.989	0.62824	D	0.791	0.57754	P	0.000104	0.50451	D	0.228779	1	0.08975	N	1.79	0.46772	L	2.79	0.11189	T	-1.61	0.38734	N	0.055	0.06990	-1.0890	0.05701	T	0.025	0.10688	T	9	0.004240364	0.00085	T	.	.	.	0.051	0.14325	.	.	0.40146981186	0.39757	0.2340934981079838	0.23324	0.715825330487	0.61972	0.514721155167	0.40884	T	0.006224	0.05657	T	-0.645483	0.00077	T	-0.680371	0.06961	T	0.0594843793563042	0.07087	T	0.813219	0.46599	T	0.09142489	0.21423	0.18040559	0.40838	0.09142489	0.21423	0.18040559	0.40837	-4.796	0.34545	T	.	.	0.203	0.42749	B	.;.	.;.	1.773179	0.22548	15.66	0.99448779762898043	0.65172	0.00480	0.02286	N	AEFDBCI	0.033600	0.04018	N	-0.674210410308952	0.16759	0.8566614	-0.942094068535189	0.11107	0.5638333	1.16954571823002E-5	0.02871	0.516011	0.20929	0	0.573888	0.26702	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	0.046	0.046	0.13572	-0.470000	0.06717	-5.749000	0.01609	-0.885000	0.02425	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	632	0.64850	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1477.33	134	chr17	5139447	.	C	T	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.65;DP=1323;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.15;SOR=0.739	GT:AD:DP:GQ:PL	0/1:92,54:146:99:1491,0,2391	18	0	1	0
chr17	5141484	5141487	ATAG	-	exonic	USP6	.	frameshift deletion	USP6:NM_004505:exon15:c.1558_1561del:p.R522Kfs*12,USP6:NM_001304284:exon23:c.1558_1561del:p.R522Kfs*12	.	473	1048	1	0	0	1	0.000476872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081	0.00758786	0.0024	0.0263	0.0011	0	0	6.013e-05	0.0011	0	0.002128	329	154602	rs368680364	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0199	0.0194	0.0212	0.0016	0	0	0	0.0005	3.067e-05	0.0013	1.199e-05	0.0068	0.0069	0.0070	0.0066	0.0230	0.0065	0.0063	0.0218	0.0213	0.0230	0	0.0041	0	0	0	0	8.821e-05	0.0076	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001056	0.000000	0.001362	0.003401	0.000000	0.000000	0.000000	0.000000	0.02632	1174.29	49	chr17	5141483	.	AATAG	A	1174.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=-0.151;SOR=0.656	GT:AD:DP:GQ:PL	0/1:38,31:69:99:1188,0,1502	18	0	1	0
chr17	5182407	5182407	A	G	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.T1850C:p.I617T	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0077	0.0091853	0.0026	0.0295	0.0014	0	0	2.997e-05	0.0011	0	0.0023932	370	154602	rs146017195	0.0007	0.0007	0.0008	0.0006	0.0244	0.0007	0.0007	0.0230	0.0224	0.0244	0.0019	0	0	0	0.0005	2.698e-05	0.0016	1.159e-05	0.0075	0.0076	0.0075	0.0074	0.0255	0.0071	0.0070	0.0242	0.0237	0.0255	0	0.0041	0	0	0	0	8.825e-05	0.0076	0	0.064	0.36509	T	0.098	0.39040	T	0.818	0.45651	P	0.456	0.46291	P	.	.	.	.	1	0.08975	N	-0.285	0.03692	N	3.04	0.08810	T	-3.4	0.67014	D	0.066	0.04307	-0.9745	0.36235	T	0.007	0.02558	T	9	0.005640924	0.00125	T	.	.	.	0.047	0.12962	.	.	0.141422826196	0.13715	0.00467234674098692	0.00440	0.0126889451483	0.01211	0.598153829575	0.52643	T	0.030954	0.21818	T	-0.672838	0.00053	T	-0.718989	0.04845	T	0.0516141677637808	0.05781	T	0.629737	0.24459	T	0.13529508	0.31405	0.15038654	0.35469	0.13529508	0.31405	0.15038654	0.35468	-8.135	0.61986	D	.	.	0.757	0.75360	P	.;.	.;.	1.400572	0.18148	13.57	0.97137707702741383	0.32529	0.00001	0.00044	N	AEFBHCI	0.029139	0.02695	N	-0.851071482014594	0.12023	0.5835985	-1.03405570116636	0.09042	0.4477047	2.59118268772392E-4	0.06190	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	1.26	-0.0607	0.13119	-0.009000	0.12703	-1.586000	0.05115	0.668000	0.69082	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.5404:0.0:0.4596:0.0	4.273	0.10245	528	0.73785	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	0.002114	0.000000	0.004076	0.004098	0.000000	0.000000	0.000000	0.003788	0.02632	2570.33	58	chr17	5182407	.	A	G	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.288;DP=1517;ExcessHet=0;FS=1.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.92;MQRankSum=1.71;QD=13.53;ReadPosRankSum=-1.443;SOR=0.791	GT:AD:DP:GQ:PL	0/1:97,93:190:99:2584,0,2716	18	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,25:121:85:0|1:6800775_C_G:85,0,2613:6800775	6	0	9	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	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	.	.	.	.	.	.	.	.	0.1562	914.16	145	chr17	6800776	.	C	G	914.16	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.841;DP=2249;ExcessHet=2.0135;FS=154.748;InbreedingCoeff=-0.2489;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.72;SOR=10.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,25:121:85:0|1:6800775_C_G:85,0,2613:6800775	11	0	5	3
chr17	7317527	7317527	T	C	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon27:c.A4246G:p.M1416V,NEURL4:NM_032442:exon27:c.A4252G:p.M1418V	.	424	1079	19	0	0	19	0.00872761	.	.	.	704339	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0059	0.00459265	0.0053	0.0015	0.0027	0.0001	0.0003	0.0049	0.0122	0.0151	0.0053428	826	154602	rs144766007	0.0069	0.0069	0.0068	0.0071	0.0137	0.0068	0.0068	0.0131	0.0128	0.0009	0.0029	3.826e-05	2.519e-05	0.0004	0.0042	0.0076	0.0059	0.0137	0.0046	0.0046	0.0047	0.0044	0.0100	0.0043	0.0042	0.0077	0.0069	0.0015	0	0.0056	0.0003	0	0.0004	0.0170	0.0070	0.0057	0.0100	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000006	0.62929	N	0.109105	0.755215	0.29597	N	0.05	0.08135	N	1.77	0.25841	T	0.49	0.02993	N	0.394	0.43514	-1.0019	0.29372	T	0.017	0.06855	T	10	0.0062610805	0.00141	T	.	.	.	0.074	0.21613	.	.	0.043077524339	0.03247	0.5707462383111115	0.57002	0.538728098851	0.51120	0.502444863319	0.39168	T	0.005909	0.05354	T	-0.536757	0.00350	T	-0.531467	0.19141	T	0.00742740142554384	0.00086	T	0.819218	0.47714	T	0.131274	0.30604	0.12637737	0.30437	0.131274	0.30603	0.12637737	0.30436	-1.456	0.01827	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	3.249548	0.44396	21.9	0.82686605787481182	0.14321	0.95828	0.66327	D	AEFDGBI	0.682930	0.64578	D	-0.54608992193611	0.20606	1.087518	-0.319335026908503	0.27474	1.524787	0.999460908403817	0.39843	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.84	3.76	0.42368	4.172000	0.58036	3.489000	0.38702	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0859:0.0:0.9141	9.451	0.37889	523	0.74147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.05263	3264.83	47	chr17	7317527	.	T	C	3264.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.367;DP=917;ExcessHet=0.119;FS=4.235;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.05;SOR=0.956	GT:AD:DP:GQ:PL	0/1:70,63:133:99:1530,0,1807	17	0	2	0
chr17	7848258	7848258	C	T	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.C1970T:p.P657L,KDM6B:NM_001348716:exon11:c.C1970T:p.P657L	.	.	.	.	.	.	.	.	.	.	.	226965	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.085	0.011917983285	0.0002	0.000199681	0.0006	0.0001	0.0019	0.0001	0.0017	0.0005	0.0024	6.12e-05	0.0004851	75	154602	rs199964822	0.0005	0.0005	0.0006	0.0005	0.0013	0.0005	0.0005	0.0010	0.0009	2.987e-05	0.0013	3.826e-05	0.0001	0.0019	0	0.0005	0.0005	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0002	0.0002	7.246e-05	0	0.0005	0	0.0006	0.0012	0	0.0003	0	0	0.0	0.91255	D	0.122	0.35710	T	0.999	0.77913	D	0.923	0.65830	D	0.018594	0.27448	N	0.258207	0.997906	0.44305	D	0.805	0.20218	L	2.33	0.16492	T	-1.27	0.31981	N	0.42	0.48689	-1.1151	0.02666	T	0.050	0.21456	T	10	0.016664922	0.00352	T	0.011918	0.30017	T	0.085	0.24743	.	.	0.128874641272	0.12493	0.21773372950212505	0.21689	0.118197512317	0.13304	0.689768314362	0.65673	T	0.057853	0.30681	T	-0.438768	0.01315	T	-0.438414	0.28988	T	0.0408264993348585	0.03840	T	0.783522	0.42019	T	0.15006748	0.34182	0.17881186	0.40575	0.15006748	0.34181	0.17881186	0.40575	-4.433	0.30001	T	.	.	0.073	0.04599	B	.;.	.;.	3.527968	0.49482	22.8	0.98961515738670036	0.49344	0.26356	0.22969	N	AEFBI	0.121560	0.23629	N	0.0145258382977159	0.42515	2.563123	-0.0422747507213161	0.37827	2.220095	0.996407304241652	0.34722	0.562547	0.31514	0	0.577304	0.33150	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	3.556000	0.53480	4.612000	0.44040	0.549000	0.26987	0.799000	0.29708	1.000000	0.68203	0.587000	0.31065	0.0:0.8301:0.1699:0.0	12.429	0.54901	298	0.88068	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	575.33	33	chr17	7848258	.	C	T	575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.977;SOR=0.706	GT:AD:DP:GQ:PL	0/1:15,18:33:99:589,0,428	18	0	1	0
chr17	14207172	14207172	C	T	exonic	COX10	.	nonsynonymous SNV	COX10:NM_001303:exon7:c.C1291T:p.R431W	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	0	1517	5	0	0	5	0.00164528	.	.	.	439243	not_provided|COX10-related_disorder|Mitochondrial_complex_IV_deficiency,_nuclear_type_1|Leigh_syndrome|not_specified	MedGen:C3661900|.|MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.127207692747	0.0029	0.000798722	0.0037	0.0006	0.0013	0	0.0014	0.0060	0	0.0013	0.0032341	500	154602	rs113058506	0.0038	0.0038	0.0038	0.0037	0.0045	0.0037	0.0037	0.0044	0.0044	0.0008	0.0009	0.0003	2.521e-05	0.0015	0.0024	0.0045	0.0032	0.0014	0.0021	0.0021	0.0023	0.0019	0.0039	0.0019	0.0018	0.0035	0.0033	0.0006	0	0.0007	0.0003	0.0002	0.0010	0.0034	0.0039	0.0014	0.0010	0.001	0.78490	D	0.001	0.83351	D	0.993	0.65571	D	0.53	0.48544	P	0.024285	0.26288	N	0.411149	0.775001	0.29395	N	2.175	0.60977	M	-0.16	0.65378	T	-3.1	0.63554	D	0.255	0.28849	-0.4392	0.70757	T	0.351	0.71454	T	10	0.006960273	0.00158	T	0.127208	0.80898	D	0.206	0.49396	.	.	0.350697349064	0.34675	0.7562210992463857	0.75570	0.660468085509	0.58873	0.323211789131	0.13906	T	0.412165	0.76640	T	-0.378087	0.03203	T	-0.314506	0.43174	T	0.0283358393068919	0.01737	T	0.824917	0.48720	T	0.15738751	0.35467	0.13530475	0.32400	0.14358942	0.32994	0.16019136	0.37323	-6.251	0.48333	T	.	.	0.207	0.43393	B	.	.	3.768072	0.54107	23.4	0.99849675408492955	0.92925	0.84086	0.43171	D	AEFDBCI	0.400124	0.47513	N	0.236409398206741	0.52969	3.468189	0.174855398482841	0.48474	3.06277	0.862389861538255	0.25251	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	4.59	4.59	0.56297	0.807000	0.26800	2.473000	0.32905	-0.176000	0.10722	0.998000	0.41325	0.653000	0.25975	0.239000	0.22975	0.1738:0.8261:0.0:0.0	11.940	0.52182	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	0.003030	0.000000	0.001359	0.000000	0.000000	0.000000	0.012346	0.000000	0.02632	1594.33	44	chr17	14207172	.	C	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=764;ExcessHet=0;FS=3.614;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=1.12;SOR=1.244	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1608,0,1087	18	0	1	0
chr17	18163317	18163317	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon58:c.G9686A:p.C3229Y	Deafness, autosomal recessive 3, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	497564	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.785	0.35528390182	.	.	3.316e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs780798446	2.463e-05	2.531e-05	1.634e-05	3.3e-05	0.0003	1.803e-05	1.6e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	6.623e-05	0.0003	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.072	0.34982	T	0.01	0.79402	D	0.988	0.62325	D	0.795	0.57940	P	.	.	.	.	1	0.81001	D	2.83	0.82355	M	-2.36	0.97419	D	-6.62	0.92128	D	0.69	0.83678	1.059	0.98314	D	0.931	0.97740	D	9	0.8380563	0.82960	D	0.355284	0.92374	D	0.785	0.92868	.	.	0.989045917892	0.98892	0.7913776688850059	0.79089	.	.	0.829732894897	0.86520	D	0.092506	0.87572	T	0.138993	0.68231	D	0.25807	0.86002	D	0.531602731746891	0.33793	D	0.89721	0.65919	D	0.48383254	0.66132	0.66381776	0.80293	0.48383254	0.66133	0.66381776	0.80294	-8.236	0.62667	D	0.5489053689397863	0.61772	0.725	0.84920	P	.;.;.;.;.;.	.;.;.;.;.;.	4.370279	0.67273	25.1	0.96633033210771213	0.30524	0.98760	0.86500	D	AEFDBI	0.937037	0.93424	D	0.662522801102177	0.77182	6.625595	0.666468048300261	0.79841	7.168664	0.999999980328269	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	7.808000	0.84594	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	18.419	0.90527	152	0.94023	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1796.33	33	chr17	18163317	.	G	A	1796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.831;DP=801;ExcessHet=0;FS=3.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.6;SOR=0.955	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1810,0,2659	18	0	1	0
chr17	31892770	31892770	A	T	exonic	UTP6	.	nonsynonymous SNV	UTP6:NM_018428:exon5:c.T337A:p.Y113N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0180708943318	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401340374	1.915e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.663e-05	1.425e-05	0	0	0	0	0	0.0002	2.428e-05	0	0	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	0.013	0.63109	D	0.698	0.41805	P	0.218	0.37679	B	0.000001	0.84330	D	0.095061	0.995992	0.42961	D	.	.	.	1.09	0.39223	T	-4.44	0.77637	D	0.905	0.90590	-0.9551	0.40078	T	0.088	0.34133	T	10	0.86335725	0.85567	D	0.018071	0.40007	T	0.297	0.61730	0.728	0.86198	0.608772422205	0.60562	0.686839363885071	0.68623	0.244669740564	0.26975	0.535229802132	0.43772	T	0.312874	0.68466	T	0.0991347	0.64199	D	-0.0953763	0.63754	T	0.953096270561218	0.63946	D	0.952805	0.82030	D	0.36295134	0.58060	0.2486263	0.50417	0.36295134	0.58060	0.2486263	0.50416	-9.587	0.71400	D	.	.	0.154	0.34004	B	.	.	4.275509	0.65092	24.8	0.97842726708392047	0.36338	0.96171	0.67859	D	AEFDBI	0.564741	0.57140	D	0.26744363040108	0.54506	3.616032	0.314771345379707	0.56408	3.803988	0.939588527602345	0.27393	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.57	4.46	0.53567	5.942000	0.69916	7.605000	0.61698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.6674:0.0:0.3326:0.0	3.431	0.06999	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	906.33	34	chr17	31892770	.	A	T	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.952;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.952;SOR=0.685	GT:AD:DP:GQ:PL	0/1:52,41:93:99:920,0,1412	18	0	1	0
chr17	32021700	32021702	TTG	-	exonic	LRRC37B	.	nonframeshift deletion	LRRC37B:NM_052888:exon1:c.554_556del:p.V187del,LRRC37B:NM_001321350:exon4:c.308_310del:p.V105del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411692136	2.599e-05	2.599e-05	2.042e-05	3.163e-05	3.417e-05	1.932e-05	1.692e-05	2.54e-05	2.224e-05	0	0	0	0	0	0	3.417e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3146.29	33	chr17	32021699	.	TTTG	T	3146.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=808;ExcessHet=0;FS=12.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=0.74;SOR=0.942	GT:AD:DP:GQ:PL	0/1:94,82:176:99:3160,0,3666	18	0	1	0
chr17	35441350	35441350	G	A	exonic	SLFN13	.	stopgain	SLFN13:NM_144682:exon6:c.C1939T:p.R647X	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.00179712	0.0014	0.0028	0.0006	0	0.0006	0.0016	0	0.0013	0.0012678	196	154602	rs115704442	0.0014	0.0014	0.0013	0.0014	0.0054	0.0013	0.0013	0.0039	0.0034	0.0034	0.0006	0.0004	0	0.0002	0.0054	0.0014	0.0016	0.0016	0.0017	0.0017	0.0017	0.0017	0.0030	0.0015	0.0015	0.0026	0.0024	0.0030	0	0.0005	0.0006	0.0002	0.0005	0.0034	0.0017	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.059389	0.02121	N	2.112190	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.058	0.03175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0407454	0.45839	T	0.166906	0.81223	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant;Tolerant;.;Tolerant	High;High;High;.;High	6.118211	0.94602	34	0.92397662470852138	0.21809	0.02752	0.07437	N	AEFBI	0.061854	0.11854	N	-0.290758380859022	0.29504	1.63675	-0.760133789046788	0.15474	0.8139838	0.00566176935172161	0.11008	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.29	-5.7	0.02226	-0.167000	0.09928	-3.580000	0.02681	-0.304000	0.06167	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.1104:0.1463:0.2436:0.4997	2.269	0.03836	400	0.82730	Domain of unknown function DUF2075;Domain of unknown function DUF2075;Domain of unknown function DUF2075;.;Domain of unknown function DUF2075	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1256.33	41	chr17	35441350	.	G	A	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=1389;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.29;MQRankSum=-1.141;QD=12.2;ReadPosRankSum=-0.532;SOR=0.643	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1270,0,1650	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:39,55:94:99:791,0,550	1	0	18	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V,IKZF3:NM_001257411:exon3:c.C71T:p.A24V,IKZF3:NM_001257412:exon3:c.C71T:p.A24V,IKZF3:NM_001257413:exon3:c.C71T:p.A24V,IKZF3:NM_001257414:exon3:c.C71T:p.A24V,IKZF3:NM_012481:exon3:c.C71T:p.A24V,IKZF3:NM_183228:exon3:c.C71T:p.A24V,IKZF3:NM_183229:exon3:c.C71T:p.A24V,IKZF3:NM_183230:exon3:c.C71T:p.A24V,IKZF3:NM_183231:exon3:c.C71T:p.A24V,IKZF3:NM_183232:exon3:c.C71T:p.A24V	.	426	1085	10	1	0	12	0.00549954	.	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	662	0.61715	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	1438.33	34	chr17	39829479	.	G	A	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.39;DP=740;ExcessHet=0;FS=3.397;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.82;SOR=0.452	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1452,0,1346	18	0	1	0
chr17	41105849	41105849	-	CAGCATCTC	exonic	KRTAP4-9;LOC100996750	.	nonframeshift insertion	KRTAP4-9:NM_001146041:exon1:c.461_462insCAGCATCTC:p.S158_C159insISS,LOC100996750:NM_001365252:exon2:c.446_447insCAGCATCTC:p.C149_C150insSIS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1962.29	36	chr17	41105849	.	G	GCAGCATCTC	1962.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.262;DP=1076;ExcessHet=0;FS=4.297;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.99;MQRankSum=-3.384;QD=15.09;ReadPosRankSum=-0.275;SOR=0.418	GT:AD:DP:GQ:PL	0/1:77,53:130:99:1976,0,2977	18	0	1	0
chr17	41424343	41424343	G	A	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.C181T:p.P61S	.	413	1092	16	1	0	18	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00819086165742	0.0013	0.000599042	0.0014	0.0003	0.0006	0	0.0002	0.0023	0.0033	0.0004	0.0013001	201	154602	rs140747125	0.0014	0.0014	0.0013	0.0014	0.0128	0.0013	0.0013	0.0105	0.0096	0.0007	0.0012	0.0039	0	0.0005	0.0128	0.0014	0.0017	0.0005	0.0012	0.0012	0.0015	0.0010	0.0018	0.0011	0.0010	0.0015	0.0014	0.0003	0	0.0013	0.0058	0	0.0007	0	0.0018	0.0019	0.0002	0.392	0.10766	T	0.26	0.23029	T	0.208	0.29916	B	0.029	0.21540	B	0.005220	0.32996	N	0.139318	1	0.08975	N	1.32	0.33002	L	-1.46	0.80983	T	-0.96	0.25551	N	0.164	0.17278	-0.9296	0.44197	T	0.205	0.56376	T	10	0.012026131	0.00260	T	0.008191	0.21700	T	0.086	0.25016	.	.	0.351830644314	0.34792	0.10540859306491256	0.10470	0.0749227178598	0.08402	0.399715781212	0.25029	T	0.011377	0.10158	T	-0.439226	0.01307	T	-0.409861	0.32240	T	0.00179616865786308	0.00018	T	.	.	.	0.023317413	0.01061	0.030227507	0.01453	0.023317413	0.01061	0.030227507	0.01453	-2.533	0.06011	T	.	.	0.097	0.16010	B	.	.	0.497711	0.08667	5.440	0.85855578787782683	0.16155	0.04340	0.09903	N	AEFBI	0.037890	0.05280	N	-0.951720951188039	0.09654	0.4578506	-0.960944658818885	0.10670	0.5388846	1.72231900435501E-5	0.02871	0.497415	0.19182	0	0.55458	0.17659	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.0	1.83	0.24279	0.023000	0.13424	-0.034000	0.12756	0.671000	0.69459	0.002000	0.15269	0.000000	0.08366	0.076000	0.17014	0.1088:0.1903:0.5327:0.1682	3.101	0.05943	209	0.91859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.012228	0.017544	0.000000	0.025862	0.012195	0.003788	0.02632	3567.33	253	chr17	41424343	.	G	A	3567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=3315;ExcessHet=0;FS=7.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.867;SOR=0.451	GT:AD:DP:GQ:PL	0/1:128,126:254:99:3581,0,3503	18	0	1	0
chr17	41571455	41571455	C	T	exonic	KRT9	.	nonsynonymous SNV	KRT9:NM_000226:exon1:c.G538A:p.D180N	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1395080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0599202624098	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs763464432	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.216	0.26226	T	0.031	0.20130	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.94	0.23649	L	-2.17	0.86624	D	-3.18	0.64478	D	0.082	0.05799	-0.6655	0.62031	T	0.435	0.77555	T	9	0.4853483	0.60675	T	0.05992	0.67828	D	0.157	0.40909	0.468	0.54052	0.678050635466	0.67531	0.6955939547692577	0.69500	0.0829047847231	0.09354	0.22137761116	0.01391	T	0.769966	0.93835	D	-0.177445	0.24117	T	-0.492664	0.23112	T	0.0722286908743242	0.08961	T	0.837516	0.51030	T	0.12815705	0.29969	0.124654196	0.30044	0.12815705	0.29968	0.124654196	0.30044	-5.783	0.44426	T	0.23862463621140434	0.32319	0.098	0.16363	B	.	.	0.075777	0.04829	1.431	0.98482409702665585	0.41990	0.08535	0.14451	N	AEFBI	0.128546	0.24636	N	-1.28715804535096	0.03829	0.1717587	-1.37208300600823	0.03552	0.1659334	0.00119376659736849	0.08324	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.64	-2.57	0.05885	-2.081000	0.01454	-2.617000	0.03544	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.0:0.5116:0.1079:0.3805	6.963	0.23787	276	0.89131	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	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1274.33	33	chr17	41571455	.	C	T	1274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=727;ExcessHet=0;FS=3.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.207;SOR=0.482	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1288,0,1160	18	0	1	0
chr17	42692625	42692625	A	G	exonic	CNTNAP1	.	nonsynonymous SNV	CNTNAP1:NM_003632:exon17:c.A2657G:p.Q886R	Lethal congenital contracture syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4121188	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.0239556218458	.	.	4.12e-05	0	0	0	0	5.997e-05	0	6.058e-05	3.23e-05	5	154602	rs766349836	2.531e-05	2.531e-05	2.314e-05	2.75e-05	0.0003	1.868e-05	1.631e-05	6.092e-05	3.272e-05	0	0	3.826e-05	2.519e-05	0	0.0003	2.248e-05	0	9.275e-05	1.314e-05	1.313e-05	0	2.688e-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	0.021	0.49117	D	0.126	0.35205	T	0.001	0.07471	B	0.009	0.14300	B	0.004516	0.33669	N	0.204926	0.925	0.27211	N	0.205	0.09354	N	-1.08	0.77078	T	-1.77	0.41809	N	0.418	0.45803	-0.8482	0.52093	T	0.230	0.59546	T	10	0.2436702	0.41585	T	0.023956	0.46940	T	0.161	0.41658	0.529	0.63560	0.582324375139	0.57904	0.4386911342328004	0.43786	0.517804415941	0.49640	0.665964961052	0.62262	T	0.327361	0.69788	T	-0.214147	0.18799	T	-0.363856	0.37605	T	0.364218145608902	0.27573	T	0.861714	0.55578	D	0.13260013	0.30871	0.1869858	0.41904	0.13260013	0.30871	0.1869858	0.41903	-7.521	0.57758	D	0.22120860197495976	0.29831	0.242	0.47600	B	.	.	2.917326	0.38715	20.8	0.99339458335435371	0.60131	0.92929	0.56895	D	AEFGBI	0.448310	0.50359	N	-0.303479903823834	0.29016	1.605367	-0.113236137896676	0.34855	2.009748	0.725700852286838	0.22985	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	3.18	0.35615	3.019000	0.49318	7.613000	0.61989	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.5681:0.0:0.0:0.4319	10.006	0.41129	261	0.89765	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	.	.	.	.	.	.	.	.	0.02632	1430.33	36	chr17	42692625	.	A	G	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.493;DP=741;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.204;SOR=0.543	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1444,0,1103	18	0	1	0
chr17	43493534	43493534	G	A	exonic	DHX8	.	nonsynonymous SNV	DHX8:NM_001322217:exon6:c.G680A:p.R227K,DHX8:NM_001302623:exon7:c.G953A:p.R318K,DHX8:NM_001322216:exon7:c.G128A:p.R43K,DHX8:NM_001322218:exon7:c.G947A:p.R316K,DHX8:NM_001322219:exon7:c.G953A:p.R318K,DHX8:NM_001322220:exon7:c.G953A:p.R318K,DHX8:NM_001322221:exon7:c.G947A:p.R316K,DHX8:NM_004941:exon7:c.G953A:p.R318K	.	427	1094	1	0	0	1	0.00045683	.	.	.	3434196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0105281128584	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs762412448	4.72e-05	4.72e-05	5.309e-05	4.125e-05	0.0003	3.793e-05	3.476e-05	6.092e-05	3.944e-05	2.987e-05	4.472e-05	0	0	0	0.0003	5.486e-05	3.311e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.93	0.02777	T	0.004	0.12183	B	0.006	0.14941	B	0.000000	0.84330	D	0.000000	0.999943	0.51968	D	-0.45	0.02807	N	0.89	0.45636	T	0.54	0.02764	N	0.333	0.37405	-0.9823	0.34468	T	0.037	0.15943	T	10	0.120913476	0.22911	T	0.010528	0.27174	T	0.129	0.35316	0.395	0.42099	0.366092821824	0.36220	0.46831800006681706	0.46750	0.501765593626	0.48553	0.884248018265	0.94525	D	0.007833	0.14702	T	-0.243455	0.14912	T	-0.490628	0.23325	T	0.147022308124564	0.16864	T	0.965903	0.87416	D	0.21902148	0.44424	0.2708841	0.52983	0.21902148	0.44423	0.2708841	0.52982	-9.108	0.68388	D	.	.	0.100	0.16973	B	.;.	.;.	3.040495	0.40762	21.2	0.75549152279112575	0.11118	0.98047	0.79151	D	AEFDBI	0.800006	0.72610	D	-0.309477894946534	0.28787	1.590759	0.0192946937550175	0.40610	2.426454	0.999580067927973	0.40607	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	7.672000	0.82948	11.808000	0.96852	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.843	0.92159	553	0.71930	S1 domain|S1 domain|RNA-binding domain, S1;S1 domain|S1 domain|RNA-binding domain, S1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2002.33	33	chr17	43493534	.	G	A	2002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=793;ExcessHet=0;FS=1.269;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.411;SOR=0.804	GT:AD:DP:GQ:PL	0/1:80,73:153:99:2016,0,2244	18	0	1	0
chr17	44934331	44934331	T	C	exonic	KIF18B	.	nonsynonymous SNV	KIF18B:NM_001264573:exon6:c.A787G:p.S263G,KIF18B:NM_001265577:exon6:c.A787G:p.S263G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0274527135276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1197800087	7.55e-06	8.209e-06	6.824e-06	8.283e-06	9.911e-06	4.05e-06	2.96e-06	5.32e-06	3.89e-06	0	0	0	0	0	0	9.911e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.067	0.45961	T	0.321	0.33029	B	0.205	0.37080	B	0.008150	0.30992	N	0.151062	0.981	0.25100	N	1.71	0.44315	L	-0.94	0.75325	T	.	.	.	0.301	0.35938	-0.6578	0.62373	T	0.301	0.67195	T	10	0.24176791	0.41360	T	0.027453	0.50258	D	.	.	0.355	0.35571	0.77148583938	0.76938	0.4127902283383487	0.41195	0.4343084013	0.43568	0.446520507336	0.31468	T	0.027853	0.20306	T	-0.127104	0.31967	T	-0.400081	0.33374	T	0.498046547174454	0.32558	T	0.927907	0.73422	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.10352	B	.;.;.	.;.;.	3.335513	0.45935	22.2	0.99608941518380545	0.74694	0.82462	0.41686	D	AEFGBCI	0.136804	0.25759	N	0.049510939538189	0.44120	2.691882	0.159056222982974	0.47622	2.989834	0.906996649346867	0.26246	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	3.86	0.43689	2.222000	0.42568	6.178000	0.54590	0.665000	0.62972	0.771000	0.29368	1.000000	0.68203	0.987000	0.62547	0.0:0.188:0.1575:0.6545	4.968	0.13447	740	0.53092	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	35	chr17	44934331	.	T	C	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.004;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.196;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1154,0,1413	18	0	1	0
chr17	47828644	47828644	G	A	exonic	MRPL10	.	nonsynonymous SNV	MRPL10:NM_145255:exon2:c.C79T:p.R27C,MRPL10:NM_148887:exon3:c.C109T:p.R37C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.146598211896	.	.	2.506e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs746020597	6.85e-05	7.319e-05	4.914e-05	8.819e-05	0.0005	5.711e-05	5.301e-05	0.0004	0.0003	0	0	0	0	0	0	5.379e-05	1.763e-05	0.0005	3.942e-05	3.94e-05	3.853e-05	4.035e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0004	0.062	0.39097	T	0.071	0.45744	T	0.971	0.57185	D	0.281	0.40336	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-1.39	0.80387	T	-5.26	0.84105	D	0.627	0.65159	-0.0927	0.80266	T	0.408	0.75699	T	10	0.800899	0.79494	D	0.146598	0.82870	D	0.442	0.74518	0.767	0.89452	0.872131129049	0.87088	0.6389873464298993	0.63832	0.175973448072	0.19809	0.536172866821	0.43906	T	0.194371	0.55013	T	0.17518	0.71599	D	0.308693	0.88594	D	0.834848701953888	0.48912	D	0.908809	0.67839	D	0.3783662	0.59198	0.30990994	0.57003	0.3783662	0.59198	0.30990994	0.57003	-6.527	0.50494	T	.	.	0.221	0.45124	B	.;.;.	.;.;.	4.557499	0.71787	25.7	0.99900258012492571	0.97199	0.99446	0.96131	D	AEFBI	0.873640	0.79611	D	0.513591654005275	0.67891	5.14287	0.566640986445052	0.72562	5.82958	0.999999999821107	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.219000	0.77491	8.528000	0.77447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	17.767	0.88390	330	0.86467	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	806.33	43	chr17	47828644	.	G	A	806.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=767;ExcessHet=0;FS=2.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.93;SOR=0.985	GT:AD:DP:GQ:PL	0/1:38,29:67:99:820,0,944	18	0	1	0
chr17	54963299	54963299	G	T	exonic	COX11	.	nonsynonymous SNV	COX11:NM_001321518:exon3:c.C655A:p.Q219K	.	470	1051	1	0	0	1	0.000475511	0.0007	0.042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00116135902717	.	.	1.684e-05	0	0	0	0	1.533e-05	0	6.134e-05	1.29e-05	2	154602	rs780726321	6.184e-06	6.841e-06	2.735e-06	9.668e-06	8.231e-05	2.91e-06	2.11e-06	3.813e-05	2.692e-05	0	0	0	0	0	0	1.804e-06	0	8.231e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.38891	T	0.104	0.25941	B	0.097	0.30390	B	.	.	.	.	1	0.19989	N	.	.	.	0.99	0.41750	T	.	.	.	0.285	0.32259	.	.	.	.	.	.	.	0.09888342	0.17909	T	0.001161	0.01459	T	.	.	.	.	0.557558522185	0.55416	.	.	.	.	.	.	.	.	.	.	-0.336181	0.05657	T	-0.617734	0.11364	T	.	.	.	0.246975	0.03645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32178	B	.	.	-0.125789	0.03490	0.655	0.63718056187694982	0.07298	0.16443	0.19391	N	AEFGBI	0.136908	0.25772	N	.	.	.	.	.	.	0.991274665790153	0.32432	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.83	3.86	0.43689	0.210000	0.17249	0.719000	0.20997	0.676000	0.76740	0.019000	0.19563	0.003000	0.18671	0.017000	0.10941	0.0917:0.1824:0.7259:0.0	7.355	0.25884	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	700.33	33	chr17	54963299	.	G	T	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=696;ExcessHet=0;FS=4.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.58;SOR=1.071	GT:AD:DP:GQ:PL	0/1:47,30:77:99:714,0,1142	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:32,17:49:33:33,0,374	8	0	11	0
chr17	67149904	67149904	T	C	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon19:c.A2441G:p.Q814R,HELZ:NM_014877:exon19:c.A2438G:p.Q813R	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0250306655257	.	.	5.804e-05	0	0	0	0	7.499e-05	0	0.0001	5.17e-05	8	154602	rs767377617	5.209e-05	5.336e-05	4.229e-05	6.2e-05	0.0002	4.167e-05	3.896e-05	8.923e-05	7.082e-05	0	0	0	0	0	0.0002	5.223e-05	6.642e-05	0.0002	3.941e-05	3.937e-05	0	8.061e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0.0002	0.152	0.24468	T	0.385	0.15794	T	0.001	0.07471	B	0.002	0.06944	B	0.000063	0.52346	N	0.222227	1.000	0.19694	N	-0.755	0.01709	N	-1.48	0.81150	T	-0.74	0.20791	N	0.142	0.14196	-0.9351	0.43379	T	0.175	0.51864	T	10	0.0736323	0.11150	T	0.025031	0.48012	D	0.233	0.53499	0.519	0.62066	0.165150595986	0.16160	0.36237426460266037	0.36151	0.704514309362	0.61332	0.304021596909	0.11004	T	0.170655	0.55255	T	-0.263534	0.12489	T	-0.412725	0.31912	T	0.0579306546308868	0.06839	T	0.762524	0.38803	T	0.06408758	0.13562	0.09270306	0.21862	0.06408758	0.13562	0.09270306	0.21861	-3.36	0.14523	T	.	.	0.059	0.00834	B	.;.	.;.	1.925397	0.24457	16.40	0.8964788649742248	0.18978	0.89739	0.50399	D	AEFDBHI	0.110679	0.21939	N	-0.643088578463794	0.17662	0.9107417	-0.456830687448037	0.23355	1.273213	0.993444542392989	0.33218	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.91	2.48	0.29194	3.193000	0.50698	2.068000	0.30429	0.609000	0.47794	0.999000	0.42656	0.139000	0.23074	0.997000	0.79791	0.0:0.1336:0.134:0.7325	7.276	0.25458	615	0.66512	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1299.33	34	chr17	67149904	.	T	C	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=705;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=1.44;SOR=0.804	GT:AD:DP:GQ:PL	0/1:36,55:91:99:1313,0,872	18	0	1	0
chr17	68907835	68907835	A	G	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon16:c.T2000C:p.L667P,ABCA8:NM_001375772:exon16:c.T761C:p.L254P,ABCA8:NM_007168:exon16:c.T2063C:p.L688P,ABCA8:NM_001288986:exon17:c.T2183C:p.L728P,ABCA8:NM_001288985:exon18:c.T2183C:p.L728P	.	.	.	.	.	.	.	.	.	.	.	3685696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.655	0.0474662796847	.	.	6.794e-05	9.743e-05	8.89e-05	0	0	9.339e-05	0	0	5.82e-05	9	154602	rs752218953	3.503e-05	3.694e-05	2.868e-05	4.144e-05	0.0021	2.707e-05	2.448e-05	0.0012	0.0010	0.0002	2.28e-05	0	0	0	0.0021	2.342e-05	9.971e-05	1.187e-05	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.954	0.69447	D	0.068112	0.21694	N	0.326219	0.969554	0.38736	D	3.91	0.96185	H	-2.36	0.88143	D	-5.91	0.89534	D	0.811	0.80669	1.021	0.97556	D	0.871	0.95725	D	10	0.46639836	0.59596	T	0.047466	0.62934	D	0.655	0.87035	0.647	0.78436	0.883709427988	0.88257	0.8326728561590938	0.83226	0.439334003021	0.43960	0.444704473019	0.31220	T	0.373307	0.74619	T	0.237338	0.77408	D	0.295479	0.87990	D	0.910380780696869	0.56560	D	0.893511	0.63097	D	0.8894376	0.90459	0.8660051	0.92590	0.8894376	0.90460	0.8660051	0.92591	-9.706	0.72133	D	.	.	0.759	0.75988	P	.;.;.	.;.;.	4.544362	0.71454	25.7	0.99888676038066659	0.96359	0.65512	0.32762	D	AEFBCI	0.892172	0.82886	D	0.641651451963141	0.75830	6.375722	0.474746313188072	0.66320	4.936947	0.99999996142376	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.9	4.9	0.63643	7.141000	0.76920	7.938000	0.75364	0.756000	0.94297	0.913000	0.31760	0.977000	0.30130	0.992000	0.67800	1.0:0.0:0.0:0.0	13.853	0.63008	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1468.33	34	chr17	68907835	.	A	G	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.602;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.93;SOR=0.719	GT:AD:DP:GQ:PL	0/1:45,57:102:99:1482,0,1371	18	0	1	0
chr17	74443910	74443910	C	A	exonic	GPRC5C	.	nonsynonymous SNV	GPRC5C:NM_001366261:exon3:c.C1144A:p.P382T,GPRC5C:NM_001366262:exon3:c.C1144A:p.P382T,GPRC5C:NM_018653:exon3:c.C1144A:p.P382T,GPRC5C:NM_022036:exon3:c.C1144A:p.P382T	.	428	1062	31	1	0	33	0.015299	0.0016	0.084	.	2808331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	.	0.0015	0.00299521	0.0028	0.0003	0.0034	0	0.0003	0.0026	0.0055	0.0076	0.0026132	404	154602	rs142708564	0.0020	0.0020	0.0018	0.0023	0.0081	0.0020	0.0019	0.0076	0.0074	0.0005	0.0026	0.0036	2.522e-05	0.0006	0.0064	0.0016	0.0028	0.0081	0.0018	0.0018	0.0017	0.0019	0.0100	0.0016	0.0016	0.0077	0.0069	0.0007	0	0.0029	0.0046	0	0.0003	0.0136	0.0017	0.0057	0.0100	0.189	0.21224	T	0.35	0.17478	T	0.007	0.14184	B	0.007	0.12992	B	0.038911	0.24230	N	0.412978	0.647707	0.81001	D	.	.	.	2.27	0.17431	T	-1.11	0.28703	N	0.239	0.36779	-1.0620	0.11263	T	0.037	0.15943	T	10	0.004352629	0.00088	T	.	.	.	0.063	0.18251	.	.	0.0884992946249	0.08302	.	.	0.322169024805	0.34410	0.363022744656	0.19826	T	0.035498	0.23742	T	-0.483618	0.00705	T	-0.462754	0.26300	T	0.0174253554794817	0.00479	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	-4.327	0.28554	T	.	.	0.077	0.06387	B	.;.;.	.;.;.	1.828629	0.23235	15.94	0.78202249606816954	0.12199	0.48080	0.28127	N	AEFGBCI	0.596388	0.59058	D	-0.313090028819374	0.28649	1.582026	-0.211977405103111	0.31103	1.757264	0.999999286446192	0.74766	0.643511	0.44296	0	0.633656	0.55848	0	0.688494	0.62686	0	0.604944	0.38103	0	.	.	5.18	5.18	0.71140	1.896000	0.39421	1.768000	0.28610	0.599000	0.40250	0.639000	0.28076	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	16.203	0.81921	692	0.58729	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.025253	0.009511	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	1677.83	36	chr17	74443910	.	C	A	1677.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.143;DP=784;ExcessHet=0.119;FS=1.192;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.212;SOR=0.811	GT:AD:DP:GQ:PL	0/1:46,36:82:99:856,0,1156	17	0	2	0
chr17	78514887	78514887	C	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon26:c.G4000A:p.V1334M	.	428	1086	8	0	0	8	0.00366972	.	.	.	2808479	not_provided|DNAH17-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0035	0.00339457	0.0014	0.0073	0.0003	0.0015	0	0.0008	0.0033	0.0012	0.0013195	204	154602	rs143872440	0.0009	0.0009	0.0008	0.0009	0.0067	0.0008	0.0008	0.0060	0.0057	0.0067	0.0004	0.0004	0.0032	0	0.0055	0.0006	0.0013	0.0012	0.0025	0.0025	0.0027	0.0024	0.0070	0.0023	0.0022	0.0063	0.0061	0.0070	0	0.0009	0.0003	0.0019	0	0	0.0009	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997967	0.22421	N	.	.	.	0.1	0.61326	T	.	.	.	0.384	0.43029	-1.0398	0.17374	T	0.066	0.27225	T	7	0.012047321	0.00260	T	.	.	.	0.027	0.05988	.	.	0.159798565429	0.15598	0.11402247151895309	0.11330	.	.	0.422648996115	0.28201	T	.	.	.	-0.436946	0.01348	T	-0.396274	0.33817	T	0.0131404093913814	0.00232	T	0.650435	0.26116	T	0.016085599	0.00175	0.070243195	0.14899	0.016633002	0.00211	0.08776052	0.20418	-4.792	0.34498	T	0.3013515114219636	0.39871	0.103	0.18289	B	.;.	.;.	1.717992	0.21875	15.39	0.97095372148941017	0.32345	0.16628	0.19476	N	AEFGBI	0.110955	0.21984	N	-0.515097206054407	0.21592	1.146994	-0.482535949417321	0.22634	1.230398	9.26005572858497E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.31	2.27	0.27501	0.487000	0.22064	-4.781000	0.01989	-0.914000	0.02241	0.262000	0.24968	0.000000	0.08366	0.072000	0.16771	0.1495:0.5386:0.0:0.3119	4.58	0.11648	897	0.25382	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.008152	0.005848	0.000000	0.008621	0.006098	0.007576	0.02632	2526.33	36	chr17	78514887	.	C	T	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=854;ExcessHet=0;FS=2.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.873;SOR=0.855	GT:AD:DP:GQ:PL	0/1:111,102:213:99:2540,0,2713	18	0	1	0
chr17	80344886	80344886	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.A6551G:p.Q2184R	.	0	1498	23	1	0	25	0.00827541	.	.	.	715797	not_provided|RNF213-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00360495360684	0.0022	0.00159744	0.0024	0.0004	0.0018	0	0.0002	0.0031	0.0066	0.0028	0.0024579	380	154602	rs138595111	0.0038	0.0038	0.0037	0.0038	0.0099	0.0037	0.0036	0.0078	0.0071	0.0007	0.0017	0.0030	0	0.0006	0.0099	0.0042	0.0046	0.0029	0.0025	0.0025	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0007	0	0.0033	0.0032	0	0.0004	0.0170	0.0040	0.0033	0.0023	0.832	0.02869	T	0.895	0.03099	T	.	.	.	.	.	.	0.613810	0.10841	N	0.817583	1	0.08975	N	.	.	.	1.95	0.22474	T	-1.44	0.35399	N	0.043	0.01577	-0.9635	0.38507	T	0.020	0.08546	T	10	0.017392218	0.00371	T	0.003605	0.08247	T	0.030	0.07022	.	.	0.117506650769	0.11410	.	.	0.351483973545	0.36988	0.241480603814	0.02925	T	0.02384	0.18124	T	-0.666409	0.00058	T	-0.728522	0.04395	T	0.00173518910473408	0.00018	T	0.435856	0.11948	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03093	B	.;.	.;.	-0.353405	0.02393	0.265	0.4294536971338907	0.03200	0.09017	0.14855	N	AEFDBI	0.052287	0.09317	N	-1.21672145797293	0.04757	0.2153734	-1.20906142747402	0.05764	0.2755305	5.79141037353422E-4	0.07363	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.57	-0.534	0.11289	-0.528000	0.06280	-1.396000	0.05538	-0.042000	0.17409	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3959:0.1262:0.3553:0.1226	2.551	0.04459	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.000000	0.009146	0.000000	0.07895	4494.79	104	chr17	80344886	.	A	G	4494.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.499;DP=1092;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.131;SOR=0.68	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1135,0,1743	16	0	3	0
chr17	81447639	81447639	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.C3767T:p.A1256V,BAHCC1:NM_001291324:exon12:c.C3860T:p.A1287V	.	390	1130	1	1	0	3	0.00132567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00939808467228	0.0026	0.00239617	0.0051	0.0015	0.0071	0	0	0.0085	0.004	0.0008	0.0026196	405	154602	rs142418298	0.0033	0.0033	0.0033	0.0033	0.0048	0.0032	0.0031	0.0046	0.0045	0.0013	0.0026	0.0037	2.964e-05	0.0004	0.0007	0.0048	0.0038	0.0005	0.0035	0.0035	0.0036	0.0033	0.0055	0.0032	0.0031	0.0051	0.0049	0.0011	0	0.0047	0.0040	0	0.0005	0.0034	0.0055	0.0057	0.0004	0.27	0.16038	T	0.205	0.27414	T	0.005	0.12996	B	0.005	0.11217	B	0.996062	0.07997	N	0.997282	1	0.08975	N	.	.	.	1.81	0.25182	T	-1.08	0.28084	N	0.014	0.00160	-0.9790	0.35231	T	0.022	0.09193	T	10	0.0049081445	0.00105	T	0.009398	0.24646	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.17422729968219483	0.17341	0.0837104849126	0.09440	0.3782081604	0.22001	T	0.012878	0.11238	T	-0.593334	0.00160	T	-0.623969	0.10876	T	0.00221729881763438	0.00023	T	0.649135	0.26722	T	0.014207058	0.00084	0.031005628	0.01631	0.014207058	0.00084	0.031005628	0.01631	-5.128	0.38201	T	.	.	0.079	0.12465	B	.;.	.;.	0.124521	0.05214	1.723	0.85662281518378458	0.16033	0.13069	0.17645	N	AEFBHCI	0.061524	0.11769	N	-1.22940982936709	0.04578	0.206923	-1.27530979844889	0.04766	0.225622	0.00436527991188606	0.10516	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.07	-1.83	0.07410	-1.140000	0.03321	-2.669000	0.03486	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1419:0.5308:0.0:0.3272	4.966	0.13438	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003543	0.005155	0.006831	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1262.33	110	chr17	81447639	.	C	T	1262.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.534;DP=1055;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.553;SOR=0.542	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1276,0,1462	18	0	1	0
chr17	81550703	81550703	G	A	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon3:c.C791T:p.A264V	.	424	1085	12	1	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0130256557196	0.0028	0.00259585	0.0033	0.0004	0.0016	0.0002	0.0032	0.0044	0.0023	0.0035	0.0033635	520	154602	rs62076033	0.0049	0.0049	0.0049	0.0048	0.0056	0.0048	0.0047	0.0055	0.0054	0.0007	0.0015	0.0013	7.557e-05	0.0034	0.0047	0.0056	0.0040	0.0035	0.0030	0.0030	0.0034	0.0025	0.0049	0.0027	0.0027	0.0045	0.0043	0.0006	0	0.0016	0.0023	0.0002	0.0028	0.0068	0.0049	0.0038	0.0041	0.103	0.31383	T	0.025	0.56192	D	0.728	0.42542	P	0.503	0.47728	P	0.398824	0.13153	N	0.691562	1	0.08975	N	2.14	0.59869	M	1.36	0.34452	T	-1.97	0.53898	N	0.104	0.08786	-1.0389	0.17648	T	0.059	0.24908	T	10	0.006303638	0.00142	T	0.013026	0.32109	T	0.076	0.22200	.	.	0.37953744168	0.37561	0.32591849425966823	0.32504	0.585194260496	0.54172	.	.	.	0.052243	0.29108	T	-0.494743	0.00612	T	-0.479016	0.24551	T	0.0161791430200552	0.00393	T	0.689931	0.29934	T	0.041566562	0.06145	0.063271634	0.12510	0.041566562	0.06145	0.063271634	0.12510	-4.133	0.25775	T	.	.	0.106	0.25753	B	.;.;.	.;.;.	2.860431	0.37796	20.6	0.99745557317603251	0.83852	0.76383	0.37457	D	AEFDBI	0.119191	0.23274	N	-0.181309181373081	0.33912	1.929522	-0.276643717617471	0.28870	1.613006	0.999925251251128	0.46280	0.67177	0.52595	0	0.685571	0.66316	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.34	1.27	0.20595	1.661000	0.37024	3.366000	0.37896	0.676000	0.76740	0.120000	0.23175	1.000000	0.68203	0.689000	0.33808	0.2856:0.159:0.3926:0.1628	0.873	0.01141	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1632.33	40	chr17	81550703	.	G	A	1632.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=772;ExcessHet=0;FS=1.47;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.389;SOR=0.522	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1646,0,1627	18	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,198:438:99:.:.:14203,6779,8594:.	6	3	10	0
chr18	12127901	12127901	G	A	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.G2716A:p.V906I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00268139193809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.11515	T	0.99	0.63424	D	0.869	0.61749	P	.	.	.	.	1	0.08975	N	2.015	0.55033	M	.	.	.	.	.	.	0.237	0.26717	-1.0369	0.18264	T	0.117	0.41209	T	9	0.20387664	0.36558	T	0.002681	0.05492	T	.	.	0.153	0.05648	0.110078149338	0.10416	0.007665797815379618	0.00732	0.339670602382	0.35915	0.609141767025	0.54194	T	0.003676	0.03081	T	-0.180341	0.23686	T	-0.496824	0.22677	T	0.367775622955708	0.27711	T	0.39886	0.10126	T	0.031131502	0.02898	0.10709982	0.25778	0.031131502	0.02897	0.10709982	0.25777	-3.614	0.18060	T	.	.	0.150	0.33273	B	.	.	1.735361	0.22085	15.47	0.88843147212734486	0.18300	0.68156	0.33696	D	AEFGI	0.255809	0.37486	N	-0.0823440089561925	0.38166	2.231271	-0.273268785403472	0.28983	1.620193	2.46352948154679E-4	0.06141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.0	1.1	0.19578	4.934000	0.63192	6.613000	0.56094	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.1993:0.0:0.8007:0.0	4.544	0.11471	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	31.33	49	chr18	12127901	.	G	A	31.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.078;DP=825;ExcessHet=0;FS=16.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.3;MQRankSum=0.598;QD=0.47;ReadPosRankSum=0.808;SOR=4.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,9:66:45:0|1:12127896_G_C:45,0,2197:12127896	18	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/1:223,42:265:99:432,0,5868	7	0	10	2
chr18	14513787	14513787	T	C	splicing	POTEC	NM_001137671:exon10:c.1410-2A>G	.	.	.	994	521	7	0	0	7	0.00667302	0.9996	0.558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0197684	0.0144	0.0072	0.0022	0.0229	0.0074	0.0104	0.0057	0.0474	0.0085704	1325	154602	rs8095431	0.0090	0.0090	0.0082	0.0098	0.0429	0.0089	0.0088	0.0412	0.0405	0.0060	0.0029	0.0013	0.0429	0.0052	0.0154	0.0066	0.0086	0.0334	0.0083	0.0083	0.0080	0.0086	0.0405	0.0079	0.0078	0.0358	0.0341	0.0064	0	0.0039	0.0009	0.0284	0.0044	0.0306	0.0077	0.0066	0.0405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999935	0.19363	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.798505	0.00008	T	-0.894011	0.00546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342760	0.46072	22.2	0.78168870682474034	0.12185	0.01012	0.03817	N	AEFI	.	.	.	-0.00385594114453219	0.41679	2.497468	-0.459820587356929	0.23271	1.268173	1.40848488218025E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0884565	0.20023	0.702	0.702	0.17269	-0.679000	0.05304	.	.	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3580.83	39	chr18	14513787	.	T	C	3580.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.99;DP=1467;ExcessHet=0.119;FS=3.543;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=52.02;MQRankSum=3.76;QD=8.16;ReadPosRankSum=1.49;SOR=0.97	GT:AD:DP:GQ:PL	0/1:156,73:229:99:1602,0,3685	17	0	2	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.05263	2856.83	33	chr18	31403566	.	C	T	2856.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.056;DP=829;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.073;SOR=0.66	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1562,0,1539	17	0	2	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:37,25:62:99:177,0,589	2	0	16	1
chr18	47059575	47059575	G	A	exonic	KATNAL2	.	nonsynonymous SNV	KATNAL2:NM_001353903:exon5:c.G137A:p.R46H,KATNAL2:NM_001353904:exon5:c.G137A:p.R46H,KATNAL2:NM_001353906:exon5:c.G137A:p.R46H,KATNAL2:NM_001353907:exon5:c.G137A:p.R46H,KATNAL2:NM_001353908:exon5:c.G137A:p.R46H,KATNAL2:NM_001353909:exon5:c.G137A:p.R46H,KATNAL2:NM_031303:exon5:c.G254A:p.R85H,KATNAL2:NM_001367621:exon6:c.G470A:p.R157H,KATNAL2:NM_001353899:exon8:c.G548A:p.R183H,KATNAL2:NM_001353900:exon8:c.G545A:p.R182H,KATNAL2:NM_001353901:exon8:c.G470A:p.R157H,KATNAL2:NM_001353902:exon8:c.G548A:p.R183H,KATNAL2:NM_001353905:exon8:c.G137A:p.R46H	.	420	1096	5	1	0	7	0.00318327	.	.	.	580283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0148448398521	0.0006	0.000599042	0.0005	0	0.0006	0	0	0.0006	0	0.0006	0.0004334	67	154602	rs148023825	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0008	8.972e-05	0.0005	3.829e-05	7.562e-05	7.493e-05	0.0019	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0006	0.0005	4.81e-05	0	0.0010	0	0	9.425e-05	0	0.0006	0.0005	0.0006	0.165	0.23271	T	0.581	0.31026	T	0.0	0.02946	B	0.0	0.01387	B	0.473575	0.04939	N	1.281030	1	0.08975	N	-0.57	0.02306	N	0.99	0.93231	T	-0.22	0.10480	N	0.062	0.03392	-0.5517	0.66723	T	0.405	0.75515	T	10	0.023439854	0.00613	T	0.014845	0.35231	T	0.206	0.49396	.	.	0.341226946553	0.33730	0.3989247658917256	0.39807	0.139674272888	0.15743	0.189456790686	0.00215	T	0.016358	0.13540	T	-0.35049	0.04696	T	-0.384853	0.35153	T	0.00844971463843472	0.00102	T	0.467453	0.14601	T	0.028652452	0.02235	0.026017526	0.00671	0.028652452	0.02234	0.026017526	0.00671	-3.567	0.17381	T	.	.	0.057	0.00730	B	.;.;.	.;.;.	-0.674801	0.01379	0.079	0.8933077126959329	0.18705	0.00532	0.02463	N	AEFBI	0.025782	0.01825	N	-1.66859087681598	0.00959	0.04156136	-1.6274799260807	0.01497	0.06774935	0.00135976403094851	0.08470	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.49	-3.45	0.04479	-1.637000	0.02117	-1.359000	0.05627	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3001:0.1861:0.5138:0.0	7.642	0.27465	850	0.35610	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	950.33	36	chr18	47059575	.	G	A	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.963;DP=695;ExcessHet=0;FS=5.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.36;SOR=0.275	GT:AD:DP:GQ:PL	0/1:41,39:80:99:964,0,914	18	0	1	0
chr18	50270029	50270029	A	C	exonic	MBD1	.	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.T1635G:p.I545M	.	411	1080	30	1	0	32	0.0145985	.	.	.	3185111	not_provided|MBD1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.116	.	0.0058	0.00279553	0.0080	0.0012	0.0020	0	0.0049	0.0105	0.0047	0.0112	0.0073996	1144	154602	rs183864846	0.0086	0.0085	0.0084	0.0087	0.0153	0.0084	0.0084	0.0127	0.0118	0.0016	0.0023	0.0163	0	0.0066	0.0153	0.0091	0.0074	0.0103	0.0064	0.0064	0.0070	0.0059	0.0097	0.0061	0.0060	0.0091	0.0088	0.0018	0.0374	0.0022	0.0196	0	0.0054	0.0034	0.0097	0.0080	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.102	0.25827	B	0.022	0.19653	B	.	.	.	.	1	0.18198	N	.	.	.	-3.8	0.95696	D	-0.19	0.09965	N	0.191	0.20925	-0.0759	0.80644	T	0.631	0.87078	D	8	0.0028661191	0.00046	T	.	.	.	0.116	0.32463	.	.	0.33174030287	0.32783	.	.	.	.	.	.	.	.	.	.	-0.382911	0.02986	T	-0.308521	0.43817	T	0.0105126473744262	0.00146	T	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-3.092	0.11205	T	.	.	0.166	0.36535	B	.	.	0.307725	0.06832	3.357	0.86566512424548925	0.16622	0.08186	0.14147	N	AEDBCI	0.045029	0.07317	N	-0.740149739767171	0.14903	0.7463552	-0.787896569141984	0.14791	0.7747388	0.999682353112689	0.41756	0.67177	0.52595	0	0.702456	0.74545	0	0.670488	0.60580	0	0.636168	0.56350	0	.	.	4.03	1.44	0.21647	-0.712000	0.05116	-0.187000	0.11075	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.5301:0.2952:0.0:0.1746	4.618	0.11824	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009326	0.010101	0.008152	0.003497	0.050000	0.008621	0.009146	0.015152	0.07895	2949.79	33	chr18	50270029	.	A	C	2949.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.077;DP=803;ExcessHet=0.3672;FS=1.567;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.785;SOR=0.575	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1016,0,888	16	0	3	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,31:69:99:.:.:299,0,568:.	1	0	18	0
chr18	74518536	74518536	G	A	exonic	CNDP2	.	nonsynonymous SNV	CNDP2:NM_001168499:exon7:c.G854A:p.R285H,CNDP2:NM_001370248:exon10:c.G1106A:p.R369H,CNDP2:NM_001370250:exon10:c.G1106A:p.R369H,CNDP2:NM_001370254:exon10:c.G389A:p.R130H,CNDP2:NM_018235:exon10:c.G1106A:p.R369H,CNDP2:NM_001370249:exon12:c.G1106A:p.R369H	.	427	1093	2	0	0	2	0.000914077	.	.	.	2194887	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00310340467104	0.0002	.	8.237e-05	9.61e-05	8.637e-05	0.0001	0	7.492e-05	0	0.0001	7.12e-05	11	154602	rs147081657	5.609e-05	5.609e-05	5.036e-05	6.188e-05	0.0001	4.61e-05	4.236e-05	5.395e-05	4.042e-05	0	0.0001	0	7.557e-05	0	0	5.216e-05	0.0001	0.0001	5.257e-05	5.253e-05	3.855e-05	6.726e-05	0.0002	2.557e-05	1.83e-05	2.846e-05	1.858e-05	4.827e-05	0	0	0	0	0	0	7.349e-05	0	0.0002	0.096	0.31088	T	0.073	0.47581	T	0.0	0.07471	B	0.002	0.06944	B	0.950626	0.07653	N	1.017760	1	0.08975	N	-0.345	0.03330	N	2.24	0.17923	T	-0.52	0.16187	N	0.208	0.23253	-0.9963	0.30946	T	0.038	0.16548	T	10	0.10220486	0.18719	T	0.003103	0.06726	T	0.055	0.15663	.	.	0.176091768786	0.17195	0.3478386898480182	0.34697	0.206106104933	0.23033	0.203981980681	0.00582	T	0.098235	0.40185	T	-0.530994	0.00379	T	-0.726213	0.04501	T	0.0305490357831972	0.02075	T	0.752425	0.37456	T	0.09912247	0.23390	0.10862943	0.26170	0.09912247	0.23390	0.10862943	0.26170	-2.393	0.05090	T	.	.	0.066	0.02200	B	.;.;.	.;.;.	1.262589	0.16608	12.65	0.9822246138287839	0.39316	0.07264	0.13287	N	AEFGBCI	0.221754	0.34634	N	-0.752556689982958	0.14563	0.7265383	-0.687717855342022	0.17268	0.9173884	0.969184778479122	0.29109	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	3.12	0.34986	1.427000	0.34489	1.845000	0.29216	-0.063000	0.16611	0.556000	0.27393	0.000000	0.08366	0.602000	0.31438	0.8601:0.0:0.1399:0.0	9.827	0.40085	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3562.83	34	chr18	74518536	.	G	A	3562.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=905;ExcessHet=0.119;FS=2.53;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.382;SOR=0.859	GT:AD:DP:GQ:PL	0/1:88,62:150:99:1596,0,2102	17	0	2	0
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	2268.28	81	chr18	79373905	.	C	G	2268.28	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.62;DP=784;ExcessHet=7.4688;FS=157.665;InbreedingCoeff=-0.3998;MLEAC=12;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=1.57;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,7:21:25:0|1:79373905_C_G:25,0,396:79373905	3	0	9	7
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	2143.27	69	chr18	79373906	.	C	G	2143.27	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-0.593;DP=800;ExcessHet=7.4688;FS=314.938;InbreedingCoeff=-0.3139;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=1.57;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,7:21:25:0|1:79373905_C_G:25,0,396:79373905	8	0	6	5
chr19	334521	334521	T	G	exonic	MIER2	.	nonsynonymous SNV	MIER2:NM_001346105:exon2:c.A14C:p.D5A,MIER2:NM_017550:exon3:c.A122C:p.D41A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0174378105626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.954	0.54400	P	0.563	0.49647	P	0.008361	0.30877	N	0.143965	0.994166	0.42184	D	3.07	0.87108	M	1.69	0.27032	T	-5.3	0.84387	D	0.505	0.53708	-0.9348	0.43424	T	0.103	0.37844	T	10	0.52030766	0.62604	D	0.017438	0.39139	T	0.195	0.47612	0.57	0.69299	0.174091166621	0.17034	0.6415051735159982	0.64085	0.694266774681	0.60757	0.463275074959	0.33760	T	0.385489	0.74687	T	-0.0325568	0.47045	T	-0.284542	0.46337	T	0.994735777378082	0.86208	D	0.858914	0.54988	D	0.48608387	0.66268	0.43281397	0.66855	0.48608387	0.66268	0.43281397	0.66855	-3.551	0.17153	T	.	.	0.155	0.34294	B	.	.	4.001508	0.58965	24.0	0.99470764754541707	0.66312	0.93662	0.58834	D	AEFBI	0.297944	0.40739	N	0.453659492844331	0.64410	4.695052	0.43877219981486	0.63999	4.645364	0.784736963067575	0.23909	0.645754	0.44609	0	0.697927	0.68747	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.83	4.83	0.61880	3.361000	0.52028	4.140000	0.42083	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	12.167	0.53439	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	33	chr19	334521	.	T	G	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=725;ExcessHet=0;FS=4.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=1.413	GT:AD:DP:GQ:PL	0/1:45,35:80:99:1077,0,1198	18	0	1	0
chr19	2939200	2939291	GCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACACCACCCTTACCCAAGGAGGCA	-	exonic	ZNF77	.	frameshift deletion	ZNF77:NM_021217:exon2:c.120_130del:p.A41Lfs*6	.	672	847	1	2	0	5	0.00294291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.109e-05	4.76e-05	0.0001	4.504e-05	0.0011	4.941e-05	4.197e-05	0.0008	0.0006	0.0001	0	0	0.0011	0	0	9.062e-06	0	2.212e-05	0.0010	0.0007	0.0010	0.0010	0.0036	0.0008	0.0008	0.0020	0.0015	0.0011	0.0018	0.0018	0	0.0036	0.0004	0	0.0008	0.0017	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4138.29	35	chr19	2939199	.	CGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACGCCACCCTTACCCAAGGAGGCAGTGAGGGAATGACACCACCCTTACCCAAGGAGGCA	C	4138.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.436;DP=1014;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.97;MQRankSum=1.18;QD=16.04;ReadPosRankSum=1.88;SOR=0.682	GT:AD:DP:GQ:PL	0/1:144,114:262:99:4152,0,5438	18	0	1	0
chr19	2939291	2939291	A	0	exonic	ZNF77	.	.	.	.	468	994	34	2	24	62	0.0187562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3180.43	35	chr19	2939291	.	A	*	3180.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.834;DP=1330;ExcessHet=0.119;FS=1.778;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.2;MQRankSum=0.368;QD=6.88;ReadPosRankSum=0.94;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,89:236:99:0|1:2939255_CAGTGAGGGAATGA_C:3107,0,5498:2939255	18	0	1	0
chr19	4499635	4499635	-	AGCTGGCCGGGGAGG	exonic	HDGFL2	.	nonframeshift insertion	HDGFL2:NM_001001520:exon14:c.1720_1721insAGCTGGCCGGGGAGG:p.E584_A585insLAGEE,HDGFL2:NM_001348169:exon14:c.1792_1793insAGCTGGCCGGGGAGG:p.E608_A609insLAGEE,HDGFL2:NM_032631:exon14:c.1720_1721insAGCTGGCCGGGGAGG:p.E584_A585insLAGEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296529794	0.0073	0.0073	0.0075	0.0071	0.0111	0.0072	0.0072	0.0090	0.0085	0.0009	0.0044	0.0007	2.566e-05	0.0022	0.0111	0.0087	0.0069	0.0011	0.0052	0.0052	0.0055	0.0048	0.0084	0.0049	0.0048	0.0078	0.0076	0.0012	0	0.0077	0.0009	0	0.0020	0.0170	0.0084	0.0071	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	983.29	33	chr19	4499635	.	A	AAGCTGGCCGGGGAGG	983.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.92;ReadPosRankSum=-1.178;SOR=0.712	GT:AD:DP:GQ:PL	0/1:21,26:47:99:997,0,809	18	0	1	0
chr19	4511886	4511886	C	T	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G2074A:p.V692M	.	.	.	.	.	.	.	.	.	.	.	2341833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0373094475989	.	.	3.312e-05	0.0001	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs779510597	8.995e-05	0.0001	0.0001	7.038e-05	0.0002	7.718e-05	7.261e-05	8.71e-05	8.184e-05	3.004e-05	0	0	2.521e-05	0	0.0002	0.0001	9.976e-05	9.293e-05	0.0001	0.0001	0.0001	0.0001	0.0006	7.584e-05	6.288e-05	0.0002	8.981e-05	4.838e-05	0	0	0	0	0	0	0.0002	0	0.0006	0.013	0.53900	D	0.069	0.43913	T	1.0	0.90584	D	0.941	0.67658	D	0.580065	0.11152	U	0.742875	1	0.08975	N	2.49	0.72568	M	3.17	0.07599	T	-1.54	0.37375	N	0.117	0.10626	-1.0832	0.06739	T	0.067	0.27606	T	10	0.13859391	0.26357	T	0.037309	0.57535	D	0.058	0.16647	.	.	0.0954503805726	0.09146	0.03351350620369954	0.03299	.	.	0.280169039965	0.07516	T	0.103415	0.41205	T	-0.45493	0.01056	T	-0.699569	0.05849	T	0.109581902623177	0.13380	T	0.779622	0.41374	T	0.06391732	0.13510	0.06107223	0.11734	0.06391732	0.13509	0.06107223	0.11733	-7.686	0.58910	D	.	.	0.106	0.23219	B	.;.	.;.	0.990676	0.13686	10.22	0.99603623363578697	0.74338	0.04099	0.09565	N	AEFDGBCI	0.048944	0.08405	N	-0.298603575265187	0.29203	1.617359	-0.530748813251379	0.21320	1.152789	0.00134467666813695	0.08462	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.421638	0.06922	2	.	.	5.31	2.03	0.25714	-1.512000	0.02362	-15.477000	0.00355	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7697:0.0:0.2303	9.708	0.39395	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1613.33	691	chr19	4511886	.	C	T	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=10007;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.53;MQRankSum=-14.57;QD=2.62;ReadPosRankSum=9.09;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:526,89:615:99:0|1:4511886_C_T:1627,0,20176:4511886	18	0	1	0
chr19	5844498	5844498	C	G	exonic	FUT3	.	nonsynonymous SNV	FUT3:NM_001097641:exon2:c.G342C:p.M114I,FUT3:NM_000149:exon3:c.G342C:p.M114I,FUT3:NM_001097639:exon3:c.G342C:p.M114I,FUT3:NM_001097640:exon3:c.G342C:p.M114I,FUT3:NM_001374740:exon3:c.G342C:p.M114I,FUT3:NM_001382744:exon3:c.G342C:p.M114I,FUT3:NM_001382745:exon3:c.G342C:p.M114I,FUT3:NM_001382746:exon3:c.G342C:p.M114I,FUT3:NM_001382747:exon3:c.G342C:p.M114I,FUT3:NM_001382748:exon3:c.G342C:p.M114I,FUT3:NM_001382749:exon3:c.G342C:p.M114I,FUT3:NM_001382750:exon3:c.G342C:p.M114I	.	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00305541604976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	0	8.25e-06	0.0002	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	8.993e-07	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.09927	T	0.406	0.14725	T	.	.	.	.	.	.	0.472076	0.12265	N	0.714179	1	0.08975	N	.	.	.	1.95	0.22474	T	-1.3	0.32590	N	0.069	0.04188	-0.9828	0.34351	T	0.047	0.20156	T	10	0.08121601	0.13269	T	0.003055	0.06577	T	0.009	0.00846	0.426	0.47185	0.218845423259	0.21516	0.40348989135838115	0.40264	0.878634295547	0.69672	0.366599291563	0.20343	T	.	.	.	-0.266711	0.12126	T	-0.620889	0.11116	T	0.270576179027557	0.23772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.54804	B	.;.;.;.	.;.;.;.	-0.372706	0.02317	0.246	0.69927265038672115	0.09129	0.00700	0.02976	N	AEFDBI	0.054861	0.10012	N	-1.22596685707652	0.04626	0.2091907	-1.40209379253189	0.03231	0.1503043	1.12768672492072E-4	0.05269	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.24	-4.49	0.03257	-1.282000	0.02907	-0.291000	0.10192	0.237000	0.18210	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1584:0.5342:0.3074:0.0	6.625	0.22016	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2216.33	38	chr19	5844498	.	C	G	2216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.633;DP=2006;ExcessHet=0;FS=0.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.734;SOR=0.65	GT:AD:DP:GQ:PL	0/1:125,89:214:99:2230,0,3245	18	0	1	0
chr19	6733571	6733571	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon8:c.C722T:p.T241M	.	420	1077	25	0	0	25	0.0114732	0.9175	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0045	0.00419329	0.0059	0.0013	0.0022	0.0001	0.0053	0.0069	0.0022	0.0109	0.0057244	885	154602	rs201134279	0.0056	0.0056	0.0054	0.0057	0.0113	0.0055	0.0054	0.0107	0.0105	0.0007	0.0021	0.0069	2.519e-05	0.0049	0.0068	0.0057	0.0049	0.0113	0.0040	0.0040	0.0040	0.0040	0.0114	0.0038	0.0036	0.0090	0.0081	0.0010	0.0044	0.0014	0.0086	0	0.0060	0.0034	0.0057	0.0038	0.0114	0.087	0.32453	T	0.109	0.37449	T	1.0	0.90584	D	0.99	0.78936	D	0.014764	0.28435	U	0.198041	0.99809	0.81001	D	1.955	0.52871	M	1.74	0.26301	T	-3.06	0.63090	D	0.535	0.56317	-0.9818	0.34585	T	0.105	0.38415	T	10	0.012068361	0.00261	T	.	.	.	0.114	0.32008	.	.	0.774742464895	0.77267	0.4633210011883577	0.46251	0.501832108844	0.48557	0.514700114727	0.40881	T	0.127938	0.45528	T	-0.446055	0.01191	T	-0.403116	0.33023	T	0.0156661325516589	0.00360	T	0.824018	0.48536	T	0.03573776	0.04264	0.09458533	0.22395	0.03573776	0.04264	0.09458533	0.22394	-7.93	0.60592	D	.	.	0.102	0.17869	B	.	.	4.668783	0.74591	26.2	0.99894039365907117	0.96742	0.58790	0.30737	D	AEFDBHCIJ	0.476816	0.52007	N	0.500662929026646	0.67128	5.040679	0.421324519677696	0.62895	4.512993	0.999999999999535	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.691587	0.68394	0	.	.	3.92	3.92	0.44525	1.856000	0.39028	5.580000	0.48966	0.662000	0.56354	0.654000	0.28207	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	11.595	0.50224	946	0.12043	.	.	.	.	.	.	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	0.003528	0.000000	0.001359	0.005848	0.050000	0.000000	0.006135	0.003788	0.02632	2089.33	39	chr19	6733571	.	G	A	2089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=1240;ExcessHet=0;FS=5.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.476;SOR=1.117	GT:AD:DP:GQ:PL	0/1:89,80:169:99:2103,0,2054	18	0	1	0
chr19	6926385	6926385	C	T	exonic	ADGRE1	.	nonsynonymous SNV	ADGRE1:NM_001256254:exon13:c.C1583T:p.A528V,ADGRE1:NM_001256255:exon13:c.C1475T:p.A492V,ADGRE1:NM_001256252:exon15:c.C1850T:p.A617V,ADGRE1:NM_001256253:exon15:c.C1811T:p.A604V,ADGRE1:NM_001974:exon16:c.C2006T:p.A669V	.	429	1084	9	0	0	9	0.00413413	.	.	.	3213495	ADGRE1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.381	0.025067683718	0.0012	0.00199681	0.0017	9.612e-05	0.0016	0	0.0020	0.0021	0.0033	0.0019	0.0016041	248	154602	rs117242880	0.0012	0.0012	0.0011	0.0013	0.0042	0.0011	0.0011	0.0029	0.0025	0.0004	0.0017	0.0024	2.519e-05	0.0018	0.0042	0.0011	0.0017	0.0021	0.0015	0.0015	0.0014	0.0015	0.0039	0.0013	0.0013	0.0026	0.0021	0.0003	0	0.0023	0.0032	0	0.0024	0	0.0017	0.0024	0.0039	0.498	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	.	.	.	.	0.998038	0.44438	D	.	.	.	0.84	0.47477	T	-3.82	0.72120	D	0.802	0.79792	-0.6675	0.61941	T	0.213	0.57401	T	9	0.03323117	0.01494	T	0.025068	0.48051	D	0.381	0.69863	.	.	0.566121633045	0.56276	0.5665750608273478	0.56585	0.491820675935	0.47857	0.419273138046	0.27737	T	0.32057	0.69174	T	-0.22568	0.17225	T	-0.103734	0.63107	T	0.0807674871363478	0.10086	T	0.958704	0.84427	D	0.5496803	0.69938	0.50469047	0.71370	0.5496803	0.69939	0.50469047	0.71370	-11.448	0.82058	D	.	.	0.412	0.69513	A	.;.;.;.;.	.;.;.;.;.	4.564328	0.71947	25.8	0.99907946531245362	0.97801	0.74502	0.36447	D	ALL	0.698384	0.65608	D	0.445059093952516	0.63923	4.635737	0.349070788281983	0.58451	4.015698	0.99999999999996	0.74766	0.525926	0.21836	0	0.484254	0.07192	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	4.18	4.18	0.48473	4.424000	0.59617	4.740000	0.44601	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.747000	0.35681	0.0:1.0:0.0:0.0	13.997	0.63921	976	0.04745	.;.;GPCR, family 2-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.010101	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	1294.33	33	chr19	6926385	.	C	T	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.032;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.648;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,52:118:99:0|1:6926344_T_C:1308,0,1729:6926344	18	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:91,33:124:99:100,0,1785	6	0	10	3
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	7310.79	681	chr19	8888745	.	G	A	7310.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.188;DP=8858;ExcessHet=4.0268;FS=2.799;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.125;MQ=56.47;MQRankSum=-12.32;QD=1.68;ReadPosRankSum=0.732;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:456,66:578:99:.:.:1314,0,19550:.	12	0	4	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	2086.43	696	chr19	8888746	.	T	G	2086.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.145;DP=8818;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.24;MQRankSum=-9.961;QD=0.94;ReadPosRankSum=-3.348;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:521,66:587:99:0|1:8888735_C_T:1193,0,21647:8888735	15	0	4	0
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	3381.43	598	chr19	8888763	.	G	A	3381.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.37;DP=10081;ExcessHet=0.7564;FS=19.396;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.97;MQRankSum=-9.973;QD=1.4;ReadPosRankSum=1.4;SOR=2.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:520,66:586:99:0|1:8888763_G_A:1206,0,21625:8888763	15	0	4	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	18614.9	519	chr19	8888822	.	GCTTT	*	18614.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.476;DP=9035;ExcessHet=48.2876;FS=8.727;InbreedingCoeff=-1;MLEAC=2;MLEAF=0.053;MQ=57.25;MQRankSum=-10.53;QD=2.45;ReadPosRankSum=0.453;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:245,73:431:99:.:.:2288,0,10527:.	17	0	2	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,17:220:99:0|1:8900009_C_T:103,0,8473:8900009	5	0	14	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	313.92	116	chr19	8906310	.	C	G	313.92	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.262;DP=1349;ExcessHet=0.119;FS=17.506;InbreedingCoeff=-0.0791;MLEAC=2;MLEAF=0.056;MQ=58.71;MQRankSum=-11.47;QD=1.19;ReadPosRankSum=-3.465;SOR=1.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,10:133:50:0|1:8906306_G_A:50,0,5135:8906306	16	0	2	1
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	367.59	128	chr19	8906323	.	G	A	367.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.412;DP=1411;ExcessHet=0.119;FS=9.405;InbreedingCoeff=-0.0705;MLEAC=2;MLEAF=0.056;MQ=58.81;MQRankSum=-11.82;QD=1.34;ReadPosRankSum=-1.33;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,10:143:20:0|1:8906306_G_A:20,0,5555:8906306	16	0	2	1
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	393.17	129	chr19	8906325	.	A	C	393.17	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.968;DP=1423;ExcessHet=0.119;FS=7.52;InbreedingCoeff=-0.0671;MLEAC=1;MLEAF=0.028;MQ=58.8;MQRankSum=-11.77;QD=1.39;ReadPosRankSum=-1.235;SOR=1.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,10:147:8:0|1:8906306_G_A:8,0,5723:8906306	16	0	2	1
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	477.91	132	chr19	8906329	.	A	G	477.91	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-0.176;DP=1435;ExcessHet=0.3672;FS=9.381;InbreedingCoeff=-0.101;MLEAC=3;MLEAF=0.083;MQ=58.71;MQRankSum=-11.86;QD=1.11;ReadPosRankSum=-1.861;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,11:152:37:0|1:8906306_G_A:37,0,5887:8906306	15	0	3	1
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1917.3	201	chr19	8908637	.	C	G	1917.3	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.96;DP=3143;ExcessHet=4.0268;FS=16.444;InbreedingCoeff=-0.2764;MLEAC=8;MLEAF=0.211;MQ=58.64;MQRankSum=-9.108;QD=1.27;ReadPosRankSum=0.13;SOR=2.478	GT:AD:DP:GQ:PL	0/1:138,11:149:46:46,0,5758	11	0	8	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1957.35	205	chr19	8908644	.	C	G	1957.35	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.61;DP=3180;ExcessHet=4.0268;FS=14.083;InbreedingCoeff=-0.2681;MLEAC=8;MLEAF=0.211;MQ=58.45;MQRankSum=-9.064;QD=1.3;ReadPosRankSum=0.763;SOR=2.414	GT:AD:DP:GQ:PL	0/1:143,11:154:31:31,0,5901	11	0	8	0
chr19	8935595	8935595	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.C35360T:p.P11787L	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00283980555516	0.0002	.	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0002005	31	154602	rs144987884	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	8.961e-05	0.0004	0	0	0	0.0024	0.0002	0.0005	0.0002	0.0003	0.0003	0.0002	0.0004	0.0012	0.0002	0.0002	0.0008	0.0007	0	0	0.0012	0	0	0	0	0.0004	0.0005	0	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.65	0.04267	T	-6.75	0.92692	D	0.124	0.11626	-1.0226	0.22866	T	0.015	0.06042	T	8	0.06881893	0.09786	T	0.00284	0.05956	T	0.044	0.11924	.	.	0.240491677333	0.23641	0.16200907329393477	0.16121	.	.	0.23522773385	0.02377	T	.	.	.	-0.485264	0.00690	T	-0.600674	0.12756	T	0.0943064738323252	0.11718	T	0.360864	0.08314	T	.	.	.	.	.	.	.	.	-4.928	0.36049	T	.	.	0.108	0.20625	B	.	.	1.220171	0.16140	12.34	0.53862650906457232	0.05023	0.06315	0.12312	N	AEFDBI	0.024601	0.01548	N	-0.61636117310694	0.18452	0.9581195	-0.787624511884182	0.14798	0.7751261	6.727442026967E-4	0.07599	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.43	-0.131	0.12835	0.143000	0.15936	.	.	0.652000	0.53365	0.000000	0.06391	0.015000	0.20450	0.019000	0.11356	0.1034:0.0:0.5324:0.3642	5.558	0.16412	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	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	2777.33	33	chr19	8935595	.	G	A	2777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.61;DP=975;ExcessHet=0;FS=1.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-1.191;SOR=0.778	GT:AD:DP:GQ:PL	0/1:111,99:210:99:2791,0,3140	18	0	1	0
chr19	10113836	10113836	G	A	exonic	P2RY11;PPAN-P2RY11	.	nonsynonymous SNV	P2RY11:NM_002566:exon2:c.G223A:p.D75N,PPAN-P2RY11:NM_001040664:exon13:c.G1483A:p.D495N	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.145460056248	7.7e-05	.	4.172e-05	0	0	0	0	1.52e-05	0	0.0002	3.23e-05	5	154602	rs150970461	3.764e-05	3.831e-05	2.179e-05	5.365e-05	0.0003	2.961e-05	2.657e-05	0.0002	0.0002	0	0	0.0001	0	0	0	1.619e-05	0.0001	0.0003	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.24e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0	0.169	0.29959	T	0.0	0.92824	D	0.961	0.55431	D	0.299	0.41006	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	-2.38	0.88298	D	-0.81	0.75058	N	0.304	0.34336	-0.2035	0.77580	T	0.507	0.81435	D	9	0.3459301	0.51557	T	0.14546	0.82765	D	0.426	0.73372	.	.	0.741923070755	0.73960	0.5929934684258962	0.65889	0.053446376528	0.11683	.	.	.	0.222533	0.58641	T	-0.201574	0.20578	T	-0.227	0.52061	T	0.713914513587952	0.41393	D	0.714629	0.32694	T	0.24504805	0.47459	0.19306399	0.42854	0.24504805	0.47459	0.19306399	0.42853	-6.845	0.52893	T	.	.	0.167	0.36732	B	.;.	.;.	2.054654	0.26120	17.01	0.99244075584156133	0.56630	0.92191	0.55148	D	ALL	0.618874	0.60452	D	-0.0633775185359401	0.39008	2.293483	-0.168731493673491	0.32694	1.862619	0.999999999628948	0.74766	0.77792	0.99625	0	0.67197	0.64623	0	0.854111	0.99894	0	0.683535	0.66460	0	.	.	4.33	1.97	0.25278	6.591000	0.73975	5.867000	0.50493	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.1251:0.1838:0.6911:0.0	6.204	0.19805	929	0.16858	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	0.001554	0.000000	0.000000	0.006993	0.000000	0.008621	0.000000	0.000000	0.02632	1829.33	34	chr19	10113836	.	G	A	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.93;DP=809;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.6;SOR=0.749	GT:AD:DP:GQ:PL	0/1:81,61:142:99:1843,0,2129	18	0	1	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G,TYK2:NM_001385198:exon24:c.A3338G:p.E1113G,TYK2:NM_001385199:exon24:c.A3302G:p.E1101G,TYK2:NM_001385201:exon24:c.A3290G:p.E1097G,TYK2:NM_001385200:exon25:c.A3485G:p.E1162G,TYK2:NM_001385204:exon25:c.A3698G:p.E1233G,TYK2:NM_001385205:exon25:c.A3398G:p.E1133G,TYK2:NM_001385206:exon25:c.A3362G:p.E1121G,TYK2:NM_001385207:exon25:c.A3470G:p.E1157G,TYK2:NM_003331:exon25:c.A3488G:p.E1163G,TYK2:NM_001385202:exon26:c.A3404G:p.E1135G,TYK2:NM_001385203:exon26:c.A3569G:p.E1190G	Immunodeficiency 35, Autosomal recessive	1	1402	108	11	0	130	0.0443081	.	.	.	468200	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.020645	0.005051	0.012228	0.023392	0.000000	0.025862	0.045732	0.026515	0.1316	11463.4	35	chr19	10350910	.	T	C	11463.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.968;DP=1439;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.093;SOR=0.677	GT:AD:DP:GQ:PL	0/1:88,99:187:99:2800,0,2481	14	0	5	0
chr19	11221944	11221944	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon28:c.G3457A:p.A1153T,DOCK6:NM_001367830:exon29:c.G3562A:p.A1188T	Adams-Oliver syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1377359	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00525397871955	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs776543777	2.395e-05	2.394e-05	3.268e-05	1.513e-05	0.0002	1.739e-05	1.539e-05	1.83e-05	1.582e-05	5.974e-05	2.236e-05	3.826e-05	0	0	0.0002	2.608e-05	1.656e-05	0	6.57e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.392	0.10766	T	0.433	0.13595	T	0.001	0.07471	B	0.001	0.04355	B	0.114474	0.19274	N	0.525527	1	0.08975	N	0.5	0.13406	N	2.67	0.12473	T	-0.51	0.15986	N	0.06	0.03175	-1.0146	0.25464	T	0.033	0.14029	T	10	0.03733045	0.02081	T	0.005254	0.13402	T	0.014	0.01968	0.29	0.25081	0.17948927462	0.17512	0.1311713617126628	0.13042	0.17338185284	0.19527	0.29049038887	0.08993	T	0.013491	0.11662	T	-0.480089	0.00738	T	-0.844526	0.01033	T	0.0168630901589294	0.00439	T	0.70183	0.31167	T	0.014892674	0.00112	0.03608822	0.02986	0.014892674	0.00112	0.03608822	0.02986	-6.12	0.47273	T	.	.	0.065	0.01859	B	.	.	-0.654020	0.01431	0.085	0.88612529584496569	0.18115	0.05461	0.11341	N	AEFBI	0.069141	0.13670	N	-1.12037817456886	0.06281	0.2887251	-1.14729500225578	0.06816	0.3294078	8.78737137862639E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.65	0.041	0.13528	-1.524000	0.02337	.	.	-0.987000	0.01865	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5717:0.0:0.4283	8.481	0.32201	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1238.33	39	chr19	11221944	.	C	T	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.601;DP=744;ExcessHet=0;FS=5.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.88;SOR=0.321	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1252,0,1038	18	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K,RGL3:NM_001161616:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors 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	.	.	.	.	.	.	.	.	0.1071	201.47	61	chr19	11405406	.	G	C	201.47	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.832;DP=1163;ExcessHet=0.3672;FS=116.377;InbreedingCoeff=-0.174;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.96;SOR=7.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,11:62:31:.:.:31,0,1014:.	11	0	3	5
chr19	11832410	11832410	C	T	exonic	ZNF440	.	stopgain	ZNF440:NM_152357:exon4:c.C1234T:p.R412X	.	403	1106	13	0	0	13	0.0058427	.	.	.	716161	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0029	0.000798722	0.0024	0.0009	0.0013	0.0001	0.0005	0.0028	0.0022	0.0047	0.0025679	397	154602	rs200705543	0.0040	0.0040	0.0039	0.0042	0.0052	0.0040	0.0039	0.0048	0.0046	0.0008	0.0015	0.0080	2.524e-05	0.0002	0.0023	0.0044	0.0039	0.0052	0.0030	0.0031	0.0033	0.0028	0.0059	0.0028	0.0027	0.0041	0.0039	0.0009	0.0068	0.0030	0.0059	0	0.0004	0.0155	0.0045	0.0039	0.0059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0697251	0.41370	T	0.128297	0.78782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.353410	0.95067	34	0.85278385233026011	0.15794	0.00000	0.00017	N	AEFDBHCI	.	.	.	-0.350782746003124	0.27243	1.493159	-0.808133772938246	0.14298	0.7463973	0.00359841879209578	0.10193	0.562547	0.31514	0	0.577304	0.33150	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.19	-2.02	0.06981	-0.357000	0.07702	.	.	0.219000	0.18061	0.000000	0.06391	0.000000	0.08366	0.679000	0.33513	0.5741:0.2347:0.1912:0.0	4.705	0.12226	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2477.33	33	chr19	11832410	.	C	T	2477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=1782;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=-1.006;QD=14.16;ReadPosRankSum=-1.396;SOR=0.641	GT:AD:DP:GQ:PL	0/1:89,86:175:99:2491,0,2168	18	0	1	0
chr19	12391487	12391487	G	A	exonic	ZNF799	.	nonsynonymous SNV	ZNF799:NM_001080821:exon4:c.C911T:p.T304I,ZNF799:NM_001322497:exon4:c.C815T:p.T272I,ZNF799:NM_001322498:exon5:c.C815T:p.T272I	.	409	1093	20	0	0	20	0.00906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00113329470796	0.0068	0.00299521	0.0068	0.0018	0.0035	0	0.0045	0.0092	0.0055	0.0074	0.0067981	1051	154602	rs45442691	0.0097	0.0097	0.0095	0.0098	0.0110	0.0095	0.0095	0.0108	0.0108	0.0017	0.0032	0.0087	5.038e-05	0.0059	0.0035	0.0110	0.0080	0.0076	0.0068	0.0068	0.0071	0.0066	0.0110	0.0065	0.0064	0.0104	0.0101	0.0019	0.0077	0.0035	0.0072	0	0.0073	0.0136	0.0110	0.0062	0.0064	0.014	0.78490	D	0.004	0.92824	D	0.428	0.35540	B	0.541	0.48869	P	.	.	.	.	0.859932	0.36617	D	1.75	0.45442	L	1.78	0.25678	T	-5.04	0.82764	D	0.231	0.27910	-0.9205	0.45486	T	0.076	0.30492	T	9	0.003923744	0.00075	T	0.001133	0.01385	T	0.083	0.24192	.	.	0.426084969639	0.42228	0.015766925572213337	0.01532	0.388753100896	0.40136	0.345039606094	0.17189	T	0.04157	0.25903	T	-0.466264	0.00897	T	-0.430856	0.29837	T	0.0626511478553005	0.07580	T	0.0261974	0.00159	T	0.3756993	0.59003	0.37943444	0.62999	0.3756993	0.59004	0.37943444	0.62999	-6.5	0.50286	T	.	.	0.273	0.51192	B	.;.	.;.	2.017140	0.25634	16.83	0.99201053435853892	0.55291	0.23798	0.22191	N	AEFBHCI	0.092520	0.18731	N	-0.423969534968826	0.24632	1.331362	-0.628126218196919	0.18771	1.004267	0.0497462385268515	0.14816	0.651	0.46895	0	0.615513	0.52658	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	1.31	1.31	0.20837	2.205000	0.42407	.	.	0.492000	0.22399	0.994000	0.38300	0.000000	0.08366	0.276000	0.23917	0.0:0.0:1.0:0.0	8.510	0.32372	923	0.18507	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	rs45442691	Likely benign	0	0	0	0	0	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	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	3473.33	35	chr19	12391487	.	G	A	3473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=892;ExcessHet=0;FS=6.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.872;SOR=0.724	GT:AD:DP:GQ:PL	0/1:118,119:237:99:3487,0,3560	18	0	1	0
chr19	12431796	12431796	C	A	exonic	ZNF443	.	nonsynonymous SNV	ZNF443:NM_005815:exon4:c.G376T:p.A126S	.	426	1095	1	0	0	1	0.000456413	.	.	.	2327038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00157028056619	0.0002	.	5.768e-05	0	0	0	0	8.993e-05	0	6.06e-05	4.53e-05	7	154602	rs373097363	3.352e-05	3.352e-05	2.995e-05	3.713e-05	0.0005	2.566e-05	2.312e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	2.608e-05	0.0001	8.116e-05	5.913e-05	5.91e-05	6.423e-05	5.38e-05	0.0001	3.077e-05	2.21e-05	4.764e-05	3.339e-05	0	0	6.547e-05	0	0	0	0	0.0001	0.0005	0	0.265	0.16305	T	0.322	0.19016	T	0.047	0.21998	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	-1.075	0.01037	N	3.25	0.06762	T	0.62	0.02442	N	0.094	0.07398	-0.9379	0.42947	T	0.011	0.04088	T	9	0.03735602	0.02085	T	0.00157	0.02497	T	0.006	0.00375	.	.	0.16115917748	0.15686	0.00879243368689179	0.00843	0.0326038258851	0.03409	0.213184565306	0.00954	T	1.76E-4	0.00028	T	-0.519484	0.00443	T	-0.768644	0.02813	T	0.0251126451530099	0.01287	T	0.00127821	0.00002	T	0.040836554	0.05902	0.052884243	0.08800	0.040836554	0.05902	0.052884243	0.08800	-3.457	0.15835	T	.	.	0.082	0.08609	B	.	.	-0.130704	0.03462	0.642	0.48497507733948741	0.04052	0.01076	0.03978	N	AEFBI	0.021771	0.01009	N	-1.36182066330897	0.03004	0.1335221	-1.42929913279022	0.02963	0.1373141	2.3229750959342E-4	0.06095	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.37	0.26	0.14844	-1.552000	0.02280	.	.	0.286000	0.18717	0.000000	0.06391	0.000000	0.08366	0.582000	0.30943	0.0:0.2287:0.0:0.7713	4.443	0.11007	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	5983.83	34	chr19	12431796	.	C	A	5983.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.665;DP=3548;ExcessHet=0.119;FS=2.452;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.88;MQRankSum=1.06;QD=12.7;ReadPosRankSum=1.3;SOR=0.813	GT:AD:DP:GQ:PL	0/1:108,119:227:99:3270,0,2965	17	0	2	0
chr19	12881105	12881105	G	C	exonic	DNASE2	.	nonsynonymous SNV	DNASE2:NM_001375:exon2:c.C134G:p.A45G	.	409	1105	8	0	0	8	0.00360685	.	.	.	1158405	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	0.0127536983497	0.0060	0.00199681	0.0050	0.0019	0.0037	0	0.0003	0.0073	0.0034	0.0028	0.0052393	810	154602	rs112348773	0.0076	0.0076	0.0077	0.0075	0.0116	0.0075	0.0074	0.0094	0.0087	0.0012	0.0052	0.0062	2.519e-05	0.0010	0.0116	0.0089	0.0073	0.0024	0.0051	0.0051	0.0057	0.0046	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0046	0.0052	0.0002	0.0005	0.0102	0.0087	0.0062	0.0033	0.372	0.11478	T	0.521	0.10714	T	0.026	0.19406	B	0.063	0.27082	B	0.495557	0.05061	N	1.366640	1	0.08975	N	0.35	0.11930	N	2.51	0.17596	T	-0.9	0.24244	N	0.129	0.12341	-1.0013	0.29545	T	0.015	0.06282	T	10	0.0043547153	0.00088	T	0.012754	0.31594	T	0.017	0.02790	.	.	0.148003135375	0.14442	0.2683441953285732	0.26747	0.560273300196	0.52559	0.304706543684	0.11106	T	0.07564	0.35226	T	-0.654668	0.00068	T	-0.70213	0.05711	T	0.00470155657053513	0.00050	T	0.464953	0.13651	T	0.03689833	0.04628	0.036251202	0.03036	0.03689833	0.04628	0.036251202	0.03036	-3.775	0.20432	T	.	.	0.090	0.15070	B	.;.	.;.	0.762654	0.11325	7.945	0.61141236624801887	0.06635	0.08445	0.14373	N	AEFDGBCIJ	0.088819	0.18006	N	-1.22303293139151	0.04668	0.2111439	-1.28691288597175	0.04607	0.2176825	0.999982893370361	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	5.12	-1.36	0.08610	-0.046000	0.11937	.	.	-1.707000	0.00749	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.2546:0.0:0.3464:0.3989	3.613	0.07612	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.005051	0.012228	0.000000	0.000000	0.000000	0.012195	0.003788	0.05263	2163.83	33	chr19	12881105	.	G	C	2163.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.19;DP=765;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.955;SOR=0.699	GT:AD:DP:GQ:PL	0/1:37,36:73:99:1064,0,843	17	0	2	0
chr19	12954219	12954219	G	A	exonic	GADD45GIP1	.	nonsynonymous SNV	GADD45GIP1:NM_052850:exon2:c.C658T:p.P220S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00935001567292	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1427319803	2.054e-06	2.052e-06	2.725e-06	1.376e-06	6.002e-05	5.5e-07	1.5e-07	9.94e-06	3.72e-06	6.002e-05	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.198954	0.16650	N	0.466179	1	0.08975	N	1.845	0.48678	L	.	.	.	-0.61	0.18042	N	0.084	0.06059	-1.0031	0.29021	T	0.087	0.33830	T	9	0.06705937	0.09288	T	0.00935	0.24530	T	0.156	0.40720	0.193	0.10437	0.170165803431	0.16609	0.17601533079691076	0.17520	0.56640452808	0.52940	0.400590598583	0.25150	T	0.100218	0.40580	T	-0.357097	0.04296	T	-0.568574	0.15581	T	0.0242937693791311	0.01182	T	0.380662	0.09189	T	0.066843174	0.14420	0.04730087	0.06783	0.066843174	0.14420	0.04730087	0.06783	-3.195	0.12419	T	.	.	0.070	0.03372	B	.	.	0.996194	0.13742	10.29	0.71367451693058326	0.09605	0.16227	0.19290	N	AEFDGBHCI	0.171458	0.29843	N	-1.37360932789571	0.02887	0.1281575	-1.50476446573646	0.02307	0.1059055	0.999999973748722	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	4.3	-6.09	0.01963	-0.110000	0.10794	.	.	-0.668000	0.04312	0.000000	0.06391	0.551000	0.25468	0.157000	0.20547	0.4611:0.2739:0.2651:0.0	5.292	0.15039	506	0.75555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	358.33	33	chr19	12954219	.	G	A	358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=589;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=0.951;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,11:18:99:372,0,197	18	0	1	0
chr19	16500802	16500802	G	T	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon2:c.G10T:p.A4S,C19orf44:NM_032207:exon2:c.G10T:p.A4S	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00402780951815	0.0018	0.000798722	0.0014	0.0008	0.0015	0	0.0002	0.0021	0	0.0002	0.0014489	224	154602	rs143291289	0.0022	0.0022	0.0022	0.0021	0.0030	0.0021	0.0021	0.0025	0.0024	0.0004	0.0021	0.0004	2.542e-05	0.0004	0.0030	0.0025	0.0027	0.0002	0.0016	0.0016	0.0016	0.0015	0.0037	0.0014	0.0013	0.0030	0.0027	0.0006	0	0.0037	0.0003	0	9.42e-05	0.0068	0.0021	0.0047	0.0002	0.039	0.42487	D	0.324	0.44501	T	0.248	0.31148	B	0.097	0.30390	B	0.260325	0.03704	N	1.634980	1	0.08975	N	1.355	0.33814	L	2.13	0.19588	T	0.01	0.06868	N	0.069	0.05287	-1.0582	0.12209	T	0.032	0.13942	T	9	0.008705109	0.00197	T	0.004028	0.09587	T	0.030	0.07022	.	.	0.0482279557977	0.04254	0.0574248694361337	0.05683	0.133755554543	0.15066	.	.	.	0.027966	0.20362	T	-0.604657	0.00137	T	-0.646872	0.09175	T	0.00164603011962167	0.00017	T	0.666933	0.27843	T	0.050901998	0.09268	0.0587841	0.10921	0.050901998	0.09267	0.0587841	0.10920	-2.998	0.10159	T	.	.	0.097	0.16538	B	.;.;.;.	.;.;.;.	0.009283	0.04347	1.110	0.94500164096319239	0.24972	0.01324	0.04572	N	AEFGBI	0.030401	0.03055	N	-0.85371827393849	0.11959	0.5800999	-0.963171451189503	0.10619	0.5359641	0.329392552589544	0.19469	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.645948	0.59608	0	.	.	4.46	-1.86	0.07340	-0.692000	0.05228	-0.873000	0.07095	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.208000	0.22126	0.3964:0.1852:0.2329:0.1855	0.470	0.00495	794	0.45591	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1290.33	35	chr19	16500802	.	G	T	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=-0.691;SOR=0.718	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1304,0,762	18	0	1	0
chr19	17195442	17195442	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon22:c.C4015T:p.R1339W,MYO9B:NM_004145:exon22:c.C4015T:p.R1339W	.	.	.	.	.	.	.	.	.	.	.	2763483	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.371945148577	.	.	7.878e-05	0	0	0	0	7.14e-05	0	0.0002	5.17e-05	8	154602	rs748214669	4.476e-05	4.72e-05	3.015e-05	5.952e-05	0.0003	3.599e-05	3.279e-05	0.0002	0.0002	2.995e-05	6.789e-05	0	0	0	0	2.431e-05	9.981e-05	0.0003	5.257e-05	5.253e-05	3.854e-05	6.725e-05	0.0004	2.557e-05	1.83e-05	7.287e-05	3.028e-05	0	0	0	0	0	0	0	8.819e-05	0	0.0004	0.001	0.78490	D	0.038	0.53788	D	.	.	.	.	.	.	0.029887	0.25388	N	0.259655	1	0.08975	N	1.43	0.35840	L	-2.0	0.85393	D	-3.26	0.65397	D	0.28	0.40465	-0.3387	0.73881	T	0.566	0.84267	D	10	0.22970775	0.39905	T	0.371945	0.92768	D	0.290	0.60924	.	.	0.686668411934	0.68398	0.574879035921826	0.57416	0.349125871371	0.36770	0.379706561565	0.22215	T	0.092729	0.39064	T	-0.177724	0.24075	T	-0.191343	0.55464	T	0.126027680317618	0.15011	T	0.875412	0.58680	D	.	.	.	.	.	.	.	.	-6.236	0.48213	T	.	.	0.093	0.25232	B	.;.;.;.	.;.;.;.	2.842223	0.37502	20.5	0.99870290606904966	0.94815	0.14480	0.18425	N	AEFDBHCI	0.122327	0.23741	N	-0.264175272211878	0.30541	1.703936	-0.484753380007368	0.22572	1.226712	4.40199521908383E-4	0.06970	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.39	0.282	0.14943	-0.038000	0.12096	0.768000	0.21372	0.599000	0.40250	0.001000	0.13787	0.107000	0.22748	0.019000	0.11356	0.4064:0.3516:0.1443:0.0978	2.473	0.04290	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000515	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1170.33	39	chr19	17195442	.	C	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.73;DP=835;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.248;SOR=0.776	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1184,0,909	18	0	1	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,13:24:99:1|0:17286688_GTGTT_*:423,0,483:17286688	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/0:2,14:25:99:1091,246,217	4	6	8	1
chr19	18063921	18063921	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon13:c.G1573A:p.A525T,IL12RB1:NM_005535:exon13:c.G1573A:p.A525T,IL12RB1:NM_001290024:exon14:c.G1693A:p.A565T	Immunodeficiency 30, Autosomal recessive	0	1482	38	2	0	42	0.0139721	.	.	.	236909	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency	MedGen:C3661900|MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.206	.	0.0040	0.0195687	0.0117	0.0110	0.0015	0.0502	0	0.0027	0.0059	0.0401	0.0101163	1564	154602	rs11575935	0.0051	0.0051	0.0039	0.0062	0.0401	0.0050	0.0049	0.0390	0.0386	0.0094	0.0017	0.0132	0.0398	5.625e-05	0.0174	0.0009	0.0091	0.0401	0.0065	0.0065	0.0058	0.0072	0.0454	0.0062	0.0060	0.0406	0.0388	0.0090	0.0022	0.0023	0.0121	0.0454	0	0.0034	0.0011	0.0147	0.0409	.	.	.	0.016	0.60972	D	0.997	0.70673	D	0.911	0.64720	D	0.607226	0.10901	N	0.782500	1	0.08975	N	1.98	0.53716	M	0.5	0.55608	T	.	.	.	0.064	0.03613	-1.0136	0.25784	T	0.056	0.23677	T	10	0.0067195	0.00152	T	.	.	.	.	.	.	.	.	.	0.28488406152314305	0.28401	0.205483677471	0.22968	0.365413725376	0.20171	T	0.306319	0.67853	T	-0.624686	0.00103	T	-0.631365	0.10312	T	0.00868647556433934	0.00107	T	0.758824	0.38273	T	0.049493443	0.08796	0.060404792	0.11497	0.041172143	0.06014	0.074910164	0.16438	-4.196	0.26694	T	.	.	0.083	0.09385	B	.;.	.;.	1.593305	0.20375	14.72	0.9964637387613674	0.77005	0.02439	0.06873	N	AEFDBHI	0.045193	0.07363	N	-0.274419835101271	0.30139	1.677789	-0.516139272004057	0.21716	1.176021	0.591489704993698	0.21650	0.562547	0.31514	0	0.653731	0.59785	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	3.21	2.15	0.26590	0.439000	0.21293	0.062000	0.14145	0.527000	0.24520	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.7595:0.2405:0.0	8.432	0.31927	964	0.07719	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012133	0.000000	0.013587	0.002924	0.000000	0.000000	0.003106	0.037879	0.02632	1850.33	34	chr19	18063921	.	C	T	1850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.019;DP=756;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.439;SOR=0.748	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1864,0,1416	18	0	1	0
chr19	19120154	19120154	G	A	exonic	TMEM161A	.	nonsynonymous SNV	TMEM161A:NM_001256766:exon10:c.C907T:p.P303S,TMEM161A:NM_017814:exon12:c.C1216T:p.P406S	.	376	1143	3	0	0	3	0.00131062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	0.00259585	0.0079	0	0	0	0	0	0	0.0210	0.001533	237	154602	rs373223048	0.0009	0.0009	0.0005	0.0013	0.0152	0.0009	0.0009	0.0145	0.0142	3.081e-05	5.512e-05	0	8.076e-05	0	0.0002	6.465e-06	0.0010	0.0152	0.0005	0.0005	0.0002	0.0008	0.0145	0.0004	0.0003	0.0118	0.0108	0	0	0	0	0	0	0	0	0	0.0145	0.503	0.07670	T	0.153	0.32783	T	0.006	0.13644	B	0.008	0.13708	B	0.000918	0.41128	N	0.245550	0.999983	0.18198	N	0.415	0.12483	N	.	.	.	-0.91	0.24460	N	0.048	0.04307	-0.9960	0.31028	T	0.027	0.11663	T	9	0.0040674806	0.00079	T	.	.	.	0.056	0.15993	0.457	0.52265	0.0846915920261	0.08053	0.12074717061014469	0.12001	0.248754769108	0.27440	0.323311328888	0.13922	T	0.023208	0.17756	T	-0.586867	0.00175	T	-0.603447	0.12523	T	0.0210365229274562	0.00804	T	0.630337	0.24523	T	0.023055134	0.01014	0.03022114	0.01451	0.023055134	0.01014	0.03022114	0.01451	-2.859	0.13189	T	.	.	0.063	0.01668	B	.;.;.	.;.;.	0.416222	0.07869	4.570	0.79470662750798937	0.12756	0.08179	0.14140	N	AEFBI	0.107841	0.21473	N	-1.28392984819888	0.03868	0.1735949	-1.28646125472815	0.04613	0.2179816	0.332067013071097	0.19495	0.706298	0.61202	0	0.724815	0.89359	0	0.26897	0.05253	2	0.613276	0.41899	0	.	.	4.67	-3.92	0.03880	0.789000	0.26547	.	.	0.526000	0.24426	0.934000	0.32416	0.000000	0.08366	0.140000	0.19946	0.3273:0.0:0.4279:0.2447	4.388	0.10757	707	0.57054	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.002770	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1581.33	36	chr19	19120154	.	G	A	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=839;ExcessHet=0;FS=3.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.664;SOR=0.425	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1595,0,1364	18	0	1	0
chr19	19145815	19145815	G	C	exonic	BORCS8-MEF2B;MEF2B	.	nonsynonymous SNV	MEF2B:NM_001367282:exon8:c.C977G:p.P326R,BORCS8-MEF2B:NM_005919:exon10:c.C977G:p.P326R	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.347957357568	.	0.00119808	0.0041	0	0	0	0	0	0	0.0070	0.0003622	56	154602	rs536681796	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0048	0.0047	0	0	4.083e-05	2.804e-05	0	0	6.543e-06	0.0002	0.0053	0.0002	0.0002	3.855e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.0	0.91255	D	0.214	0.29945	T	.	.	.	.	.	.	0.021704	0.01557	U	7.089470	1	0.08975	N	.	.	.	-1.94	0.84919	D	-1.8	0.42384	N	0.064	0.03613	-0.7680	0.56967	T	0.282	0.65379	T	10	0.0034590662	0.00061	T	0.347957	0.92192	D	0.366	0.68582	0.211	0.12923	0.0551355673512	0.04727	0.051657091987728464	0.05107	0.389484333747	0.40189	.	.	.	.	.	.	-0.260994	0.12784	T	-0.14686	0.59521	T	0.0251716852548896	0.01295	T	0.239776	0.03423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.08754	B	.;.	.;.	-0.550796	0.01712	0.125	0.84015670982477375	0.15048	0.00874	0.03459	N	AEFDBCI	0.019901	0.00734	N	-1.95465780114402	0.00264	0.01133617	-2.05307329452802	0.00235	0.01038166	0.999990936636157	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.459711	0.06710	0	0.691587	0.68394	0	.	.	3.98	-7.96	0.01011	-5.155000	0.00172	.	.	-1.243000	0.01312	0.000000	0.06391	0.000000	0.08366	0.703000	0.34233	0.3332:0.1695:0.3506:0.1468	1.876	0.03023	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	643.33	28	chr19	19145815	.	G	C	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=719;ExcessHet=0;FS=3.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.703;SOR=1.302	GT:AD:DP:GQ:PL	0/1:26,27:53:99:657,0,622	18	0	1	0
chr19	20950272	20950272	A	G	exonic	ZNF85	.	nonsynonymous SNV	ZNF85:NM_001256173:exon3:c.A1566G:p.I522M,ZNF85:NM_003429:exon4:c.A1758G:p.I586M,ZNF85:NM_001256171:exon5:c.A1848G:p.I616M	.	483	1034	4	1	0	6	0.00289296	.	.	.	3358507	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.00086365524624	0.0009	0.000399361	0.0005	0	0.0003	0	0	0.0007	0.0014	0.0010	0.0004657	72	154602	rs142868740	0.0004	0.0004	0.0004	0.0004	0.0011	0.0004	0.0004	0.0005	0.0004	0	0.0006	0	0	1.981e-05	0.0011	0.0004	0.0005	0.0005	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	9.62e-05	0	0.0010	0	0	0	0	0.0006	0.0024	0.0008	0.241	0.27904	T	0.07	0.44905	T	0.844	0.46645	P	0.321	0.41760	B	.	.	.	.	0.99907	0.21650	N	0.17	0.09006	N	3.19	0.07353	T	-0.03	0.07444	N	0.092	0.10769	-0.8993	0.48064	T	0.012	0.04653	T	9	0.01911679	0.00423	T	8.64E-4	0.00755	T	0.104	0.29647	.	.	0.128392430309	0.12331	0.004346138476620074	0.00408	0.00397714129987	0.00347	0.264938354492	0.05493	T	0.010901	0.09789	T	-0.61697	0.00115	T	-0.75056	0.03463	T	0.0298076824435031	0.01959	T	0.123788	0.00962	T	0.08252699	0.19017	0.06417454	0.12823	0.08252699	0.19017	0.06417454	0.12823	-6.088	0.47010	T	.	.	0.092	0.13737	B	.;.	.;.	0.885551	0.12589	9.116	0.16243728179672415	0.00428	0.05424	0.11296	N	AEBCI	.	.	.	-0.890058095359788	0.11077	0.5326987	-1.01529972142771	0.09448	0.4701331	1.77505525015762E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.27	1.27	0.20595	0.009000	0.13117	.	.	0.619000	0.51744	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7085:0.2915:0.0:0.0	5.315	0.15158	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	0.002022	0.005155	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1435.33	43	chr19	20950272	.	A	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.606;DP=910;ExcessHet=0;FS=3.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.726;SOR=1.19	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1449,0,1223	18	0	1	0
chr19	21118189	21118189	C	T	exonic	ZNF714	.	nonsynonymous SNV	ZNF714:NM_182515:exon5:c.C1525T:p.H509Y	.	433	1074	15	0	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00284650060829	0.0013	0.000998403	0.0012	0.0003	0.0019	0.0002	0.0002	0.0015	0.0060	0.0011	0.0008538	132	154602	rs144995791	0.0007	0.0007	0.0007	0.0008	0.0050	0.0007	0.0007	0.0036	0.0031	8.998e-05	0.0014	0.0010	0	7.547e-05	0.0050	0.0007	0.0016	0.0008	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0009	0.0009	0.0002	0	0.0013	0.0012	0	0	0	0.0011	0.0024	0.0012	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.201	0.22228	-0.9226	0.45196	T	0.077	0.30920	T	8	0.010623246	0.00236	T	0.002847	0.05986	T	.	.	.	.	0.126345400529	0.12197	0.01035555626675298	0.00996	.	.	0.334714442492	0.15645	T	.	.	.	-0.647918	0.00074	T	-0.701132	0.05764	T	0.00839211073557418	0.00101	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.095264	0.00646	0.018	0.30744555834884585	0.01697	0.00058	0.00432	N	AEFDBI	.	.	.	-1.61402166052084	0.01196	0.05199456	-1.75628755199004	0.00910	0.0406963	9.20592974474001E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	0.149	-0.298	0.12179	-0.995000	0.03823	.	.	-0.547000	0.04916	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6843:0.0:0.3157	4.630	0.11884	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	0.010823	0.010526	0.012228	0.000000	0.000000	0.008772	0.015924	0.007634	0.02632	802.33	45	chr19	21118189	.	C	T	802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=802;ExcessHet=0;FS=1.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.72;MQRankSum=0;QD=10.7;ReadPosRankSum=1.12;SOR=1.034	GT:AD:DP:GQ:PL	0/1:45,30:75:99:816,0,1103	18	0	1	0
chr19	21293653	21293653	T	C	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.A1121G:p.H374R,ZNF708:NM_001297560:exon4:c.A1121G:p.H374R,ZNF708:NM_021269:exon4:c.A1313G:p.H438R	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.00205761918237	0.0017	0.000599042	0.0017	0.0002	0.0006	0	0.0006	0.0022	0.0022	0.0028	0.0017723	274	154602	rs147864512	0.0025	0.0025	0.0025	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0005	0.0006	7.675e-05	2.523e-05	0.0003	0.0016	0.0028	0.0020	0.0028	0.0015	0.0015	0.0016	0.0014	0.0033	0.0014	0.0013	0.0023	0.0022	0.0005	0	0.0008	0	0	9.416e-05	0	0.0026	0.0038	0.0033	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-2.18	0.86722	D	-6.89	0.93257	D	0.347	0.38848	0.089	0.83978	D	0.822	0.94008	D	9	0.0169563	0.00360	T	0.002058	0.03775	T	0.222	0.51872	.	.	0.805846587454	0.80403	0.0234956845571592	0.02301	0.253094250479	0.27877	0.529316186905	0.42938	T	.	.	.	-0.18606	0.22839	T	-0.0411949	0.67621	D	0.210343466738021	0.20971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.67132	A	.	.	2.312067	0.29597	18.17	0.95936271790084282	0.28230	0.77808	0.38301	D	AEBI	0.072565	0.14487	N	0.161499369324575	0.49359	3.137077	-0.175887914038213	0.32426	1.844653	5.18321249635704E-5	0.04171	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	1.05	1.05	0.19280	5.715000	0.68081	.	.	0.572000	0.28966	1.000000	0.71638	0.038000	0.21505	0.010000	0.09038	0.0:0.0:0.0:1.0	7.056	0.24278	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002554	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1375.33	34	chr19	21293653	.	T	C	1375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.677;DP=744;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.528;SOR=0.579	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1389,0,1357	18	0	1	0
chr19	22392677	22392677	T	G	exonic	ZNF98	.	nonsynonymous SNV	ZNF98:NM_001098626:exon4:c.A558C:p.E186D	.	412	1098	12	0	0	12	0.00543478	.	.	.	3358715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00286281557797	0.0002	.	0.0010	0.0002	0.0030	0	0	0.0016	0.0023	0.0004	0.0003558	55	154602	rs201287965	0.0003	0.0003	0.0003	0.0003	0.0056	0.0003	0.0003	0.0041	0.0036	0.0006	0.0005	0.0007	0	0	0.0056	0.0003	0.0005	0.0003	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0.0009	0	0	0	0.0004	0	0.0004	0.012	0.54683	D	0.084	0.41239	T	0.061	0.23190	B	0.168	0.35187	B	.	.	.	.	0.999997	0.08975	N	1.995	0.54099	M	3.18	0.07478	T	-1.77	0.41809	N	0.13	0.12484	-0.9204	0.45499	T	0.017	0.07045	T	9	0.019540578	0.00438	T	0.002863	0.06015	T	0.013	0.01715	0.303	0.27164	0.180583059064	0.17676	0.0038885270014043425	0.00364	1.81731878846	0.91879	0.250135540962	0.03782	T	0.062952	0.32049	T	-0.548813	0.00296	T	-0.676677	0.07188	T	0.0236373618245125	0.01099	T	0.20098	0.02286	T	0.12064056	0.28383	0.10938568	0.26361	0.12064056	0.28383	0.10938568	0.26361	-4.792	0.34498	T	.	.	0.112	0.21877	B	.	.	1.733230	0.22059	15.46	0.96669340664065762	0.30657	0.00362	0.01852	N	AEFBI	0.039890	0.05856	N	-1.20846217329387	0.04875	0.2209929	-1.36604503674664	0.03620	0.1692445	3.01191112724562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.28	-2.34	0.06321	-5.504000	0.00140	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.3496:0.2136:0.4368	3.447	0.07053	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	0.004237	0.000000	0.004076	0.016393	0.000000	0.000000	0.000000	0.003788	0.02632	1386.33	37	chr19	22392677	.	T	G	1386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=879;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.42;MQRankSum=7.03;QD=12.84;ReadPosRankSum=-0.888;SOR=0.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,53:108:99:0|1:22392677_T_G:1400,0,2032:22392677	18	0	1	0
chr19	30007545	30007545	A	G	exonic	URI1	.	nonsynonymous SNV	URI1:NM_001252641:exon7:c.A539G:p.D180G,URI1:NM_003796:exon7:c.A593G:p.D198G	.	426	1068	27	1	0	29	0.0133949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00831901563935	0.0015	0.00179712	0.0028	0.0002	0.0003	0.0001	0	0.0027	0.0044	0.0087	0.0024773	383	154602	rs35808349	0.0016	0.0016	0.0013	0.0019	0.0088	0.0016	0.0015	0.0083	0.0081	0.0002	0.0005	0.0370	2.521e-05	0	0.0052	0.0003	0.0035	0.0088	0.0015	0.0015	0.0015	0.0015	0.0085	0.0013	0.0013	0.0064	0.0057	0.0001	0	0.0008	0.0366	0	0	0	0.0005	0.0024	0.0085	.	.	.	0.152	0.48080	T	0.001	0.07471	B	0.001	0.04355	B	0.506522	0.11890	N	0.815272	0.997412	0.22668	N	-0.11	0.04642	N	2.87	0.10386	T	.	.	.	0.127	0.17002	-0.9333	0.43650	T	0.015	0.05849	T	10	0.0029184222	0.00130	T	0.008319	0.22029	T	0.036	0.09122	.	.	0.19670166235	0.19296	0.1806272777807416	0.17981	.	.	0.3522772789	0.18257	T	0.018062	0.14625	T	-0.548704	0.00297	T	-0.55512	0.16839	T	0.000493352226057953	0.00004	T	0.662834	0.37546	T	0.03990745	0.05599	0.032111034	0.01896	0.03990745	0.05598	0.032111034	0.01896	-4.169	0.26954	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.201174	0.15936	12.20	0.86444548530996701	0.16540	0.32829	0.24681	N	AEFGBI	0.208275	0.33437	N	-0.943709659497948	0.09835	0.4672198	-0.91507801104641	0.11738	0.5998493	0.436649672931487	0.20418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	0.906	0.18444	1.155000	0.31311	1.839000	0.29174	0.749000	0.86810	0.650000	0.28172	0.406000	0.24735	0.272000	0.23818	0.53:0.2688:0.0723:0.129	3.248	0.06402	960	0.08626	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.100000	0.000000	0.009146	0.015152	0.02632	777.33	33	chr19	30007545	.	A	G	777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.719;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,30:62:99:791,0,855	18	0	1	0
chr19	32383003	32383003	G	A	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon6:c.G2782A:p.D928N,ZNF507:NM_001136156:exon7:c.G2782A:p.D928N	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0376712133515	.	.	1.652e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs767864955	3.626e-05	3.625e-05	3.267e-05	3.988e-05	0.0024	2.828e-05	2.565e-05	0.0015	0.0012	0	0	0	0	0	0.0024	2.788e-05	3.311e-05	6.956e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.03	0.45393	D	0.021	0.58089	D	0.961	0.55431	D	0.721	0.54900	P	0.000000	0.84330	D	0.089652	0.999949	0.51968	D	0.895	0.22405	L	-0.97	0.75670	T	-0.45	0.16187	N	0.285	0.35301	-0.5629	0.66293	T	0.362	0.72361	T	10	0.2453978	0.41786	T	0.037671	0.57756	D	0.301	0.62179	0.251	0.18912	0.295226631146	0.29124	0.32810213965244606	0.32723	0.351295794164	0.36970	0.630541861057	0.57222	T	0.038955	0.25023	T	-0.173378	0.24724	T	-0.389968	0.34554	T	0.286759559677516	0.24454	T	0.922208	0.71716	D	0.15303363	0.34708	0.14046194	0.33481	0.15303363	0.34708	0.14046194	0.33480	-4.065	0.24772	T	.	.	0.107	0.34449	B	.;.;.	.;.;.	4.832761	0.78829	27.0	0.99930002926361106	0.99334	0.99328	0.94563	D	AEFGBI	0.870397	0.79135	D	0.593185063191526	0.72749	5.854875	0.685054279031526	0.81244	7.481565	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.576000	0.97351	11.867000	0.98473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.321	0.98668	844	0.36711	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1385.33	40	chr19	32383003	.	G	A	1385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=820;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-1.475;SOR=0.841	GT:AD:DP:GQ:PL	0/1:33,50:83:99:1399,0,843	18	0	1	0
chr19	32692468	32692468	C	G	exonic	NUDT19	.	nonsynonymous SNV	NUDT19:NM_001105570:exon1:c.C508G:p.R170G	.	.	.	.	.	.	.	.	.	.	.	3573579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.118251154757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756202844	1.791e-05	1.984e-05	1.701e-05	1.882e-05	2.216e-05	1.229e-05	1.039e-05	1.499e-05	1.259e-05	0	0	0	0	0	0	2.216e-05	1.728e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.101	0.38596	T	0.837	0.46346	P	0.589	0.50435	P	0.820830	0.09179	U	0.905499	0.999872	0.19925	N	2.485	0.72352	M	3.18	0.07478	T	-5.41	0.85176	D	0.204	0.22614	-1.0444	0.16000	T	0.043	0.18410	T	10	0.3061692	0.48128	T	0.118251	0.79825	D	0.150	0.39571	0.488	0.57257	0.42828666871	0.42450	0.7309116730531675	0.73036	0.42360814653	0.42814	0.87671649456	0.93515	D	0.395951	0.75471	T	-0.269121	0.11855	T	-0.439077	0.28912	T	0.855384230613708	0.50636	D	0.580842	0.21027	T	0.31971803	0.54616	0.3020808	0.56240	0.31971803	0.54616	0.3020808	0.56239	-5.292	0.39864	T	.	.	0.131	0.28232	B	.	.	3.038197	0.40726	21.2	0.99684578443279648	0.79507	0.56943	0.30247	D	AEFDBHCIJ	0.209792	0.33575	N	0.00562774620637688	0.42111	2.531164	-0.131750111029329	0.34118	1.959015	0.999999999941063	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.8	0.968	0.18799	1.739000	0.37842	2.911000	0.35508	0.446000	0.21189	0.910000	0.31679	0.994000	0.32194	0.005000	0.06747	0.4154:0.4576:0.1269:0.0	8.521	0.32436	866	0.32446	NUDIX hydrolase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1004.33	40	chr19	32692468	.	C	G	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.815;DP=756;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.223;SOR=1.111	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1018,0,669	18	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.1579	1182.37	210	chr19	32999679	.	G	A	1182.37	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.027;DP=3336;ExcessHet=2.0135;FS=2.622;InbreedingCoeff=-0.1869;MLEAC=6;MLEAF=0.158;MQ=55.09;MQRankSum=-5.133;QD=1;ReadPosRankSum=4.16;SOR=0.749	GT:AD:DP:GQ:PL	0/1:167,23:190:18:18,0,4807	13	0	6	0
chr19	33160480	33160480	G	A	exonic	WDR88	.	nonsynonymous SNV	WDR88:NM_173479:exon8:c.G1064A:p.R355Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00798228532373	0.0006	0.000599042	0.0007	9.61e-05	0.0003	0.0001	0.0006	0.0007	0	0.0019	0.0007374	114	154602	rs150713418	0.0007	0.0007	0.0006	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	5.974e-05	0.0006	0	5.038e-05	0.0007	0.0002	0.0007	0.0005	0.0015	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0007	0.0006	0.0001	0	0.0009	0	0.0002	0.0003	0	0.0008	0.0019	0.0014	0.509	0.10020	T	0.669	0.19421	T	0.119	0.26641	B	0.035	0.22741	B	0.140756	0.02884	N	1.826510	0.998469	0.22137	N	0.18	0.09070	N	1.08	0.39401	T	-0.97	0.25770	N	0.181	0.19593	-1.0628	0.11069	T	0.057	0.23791	T	10	0.009299457	0.00210	T	0.007982	0.21162	T	0.075	0.21907	.	.	0.223146558224	0.21909	0.1259960003958346	0.12525	0.456533851146	0.45297	0.251663029194	0.03945	T	0.001403	0.00865	T	-0.571829	0.00216	T	-0.618796	0.11280	T	0.031918871010813	0.02294	T	0.709529	0.32279	T	0.041946042	0.06271	0.036085404	0.02986	0.041946042	0.06271	0.036085404	0.02986	-4.871	0.43210	T	.	.	0.079	0.11076	B	.;.	.;.	2.287579	0.29260	18.06	0.98522928695173639	0.42483	0.40507	0.26452	N	ALL	0.073842	0.14783	N	-0.584473799846447	0.19415	1.015977	-0.438841001311828	0.23866	1.303829	0.999999997901756	0.74766	0.487112	0.14033	0	0.518115	0.08659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.41	-0.547	0.11244	0.495000	0.22191	0.008000	0.13396	-0.167000	0.11441	1.000000	0.71638	0.570000	0.25566	0.982000	0.59238	0.4382:0.0:0.42:0.1418	4.859	0.12936	675	0.60470	.;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	0.003021	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1776.33	33	chr19	33160480	.	G	A	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=785;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.104;SOR=0.976	GT:AD:DP:GQ:PL	0/1:76,68:144:99:1790,0,1808	18	0	1	0
chr19	34958902	34958902	A	C	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.T953G:p.F318C	.	427	1091	4	0	0	4	0.00182983	.	.	.	3361663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00526289881767	7.7e-05	0.000199681	5.809e-05	0	8.724e-05	0	0	3.021e-05	0	0.0002	5.17e-05	8	154602	rs368499937	3.695e-05	3.694e-05	3.131e-05	4.264e-05	0.0003	2.894e-05	2.593e-05	0.0002	0.0001	0	0.0001	7.653e-05	0	0	0.0003	9.894e-06	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0013	0.0001	9.696e-05	0.0009	0.0007	4.812e-05	0	0.0013	0.0003	0	0	0	1.47e-05	0	0.0002	0.125	0.27310	T	0.215	0.26306	T	0.962	0.55554	D	0.615	0.51231	P	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.23	0.18083	T	-1.43	0.35194	N	0.163	0.17140	-1.0316	0.19937	T	0.025	0.10777	T	9	0.021185994	0.00502	T	0.005263	0.13433	T	0.074	0.21613	.	.	0.282179105231	0.27821	0.12048386843120623	0.11975	0.781653008177	0.65330	0.479204952717	0.35947	T	0.004166	0.05589	T	-0.415249	0.01835	T	-0.53806	0.18487	T	0.0842445810663856	0.10520	T	0.111689	0.00843	T	0.12362726	0.29024	0.10979921	0.26466	0.12362726	0.29024	0.10979921	0.26466	-5.7	0.43694	T	.	.	0.092	0.14247	B	.;.	.;.	2.609784	0.33897	19.47	0.95332825637285201	0.26695	0.00030	0.00276	N	AEBHCI	0.044069	0.07044	N	-0.626455423589744	0.18153	0.9401451	-0.782945194500487	0.14913	0.7817144	0.0703425990020304	0.15524	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.84	0.72	0.17368	-0.302000	0.08259	-5.225000	0.01799	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.5723:0.0:0.4277:0.0	5.496	0.16093	309	0.87553	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1606.33	165	chr19	34958902	.	A	C	1606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.612;DP=1978;ExcessHet=0;FS=4.401;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.831;SOR=0.736	GT:AD:DP:GQ:PL	0/1:67,55:122:99:1620,0,1980	18	0	1	0
chr19	35806769	35806769	G	A	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378293:exon6:c.C740T:p.A247V,PRODH2:NM_021232:exon6:c.C740T:p.A247V	.	411	1086	25	0	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.0848196410209	0.0018	0.00199681	0.0018	0.0003	0.0014	0.0003	0	0.0023	0	0.0028	0.0014942	231	154602	rs148996461	0.0013	0.0013	0.0012	0.0013	0.0182	0.0012	0.0012	0.0153	0.0143	0.0003	0.0016	0.0149	0.0001	9.379e-05	0.0182	0.0008	0.0023	0.0028	0.0015	0.0015	0.0016	0.0015	0.0048	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0048	0.0150	0	0	0.0170	0.0010	0.0047	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.999999	0.58761	D	.	.	.	1.28	0.35960	T	-3.41	0.67129	D	0.527	0.55626	-0.5622	0.66320	T	0.185	0.53361	T	9	0.024158657	0.00655	T	0.08482	0.74405	D	0.433	0.73879	.	.	0.495038369364	0.49138	0.917729499040338	0.91747	0.592755175315	0.54650	0.541399598122	0.44643	T	0.629359	0.88493	D	-0.228277	0.16878	T	-0.104672	0.63032	T	0.0630171359686066	0.07634	T	0.80292	0.44963	T	0.27929047	0.50980	0.3533046	0.60894	0.27929047	0.50979	0.3533046	0.60894	-7.737	0.59264	D	.	.	0.150	0.33179	B	.	.	4.528629	0.71068	25.6	0.99937806449776112	0.99698	0.96758	0.70782	D	AEFDBI	0.928981	0.91404	D	0.694588966654963	0.79276	7.044066	0.587258987438839	0.74024	6.06752	0.999999205579871	0.74766	0.55562	0.30534	0	0.59043	0.45803	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	6.769000	0.74780	9.703000	0.81309	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.710	0.77376	747	0.52260	Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009082	0.010101	0.005435	0.035088	0.000000	0.008621	0.000000	0.003788	0.02632	776.33	34	chr19	35806769	.	G	A	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.2;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.282;SOR=0.735	GT:AD:DP:GQ:PL	0/1:32,26:58:99:790,0,916	18	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	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	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.1053	3775.43	35	chr19	36720655	.	T	C	3775.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.645;DP=869;ExcessHet=0.7564;FS=2.009;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.792;SOR=0.845	GT:AD:DP:GQ:PL	0/1:26,50:76:99:1289,0,750	15	0	4	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2917.36	105	chr19	37887093	.	A	G	2917.36	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-4.617;DP=2024;ExcessHet=4.0268;FS=255.677;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=1.55;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,20:105:97:0|1:37887093_A_G:97,0,3188:37887093	10	0	8	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,20:106:94:0|1:37887093_A_G:94,0,3226:37887093	5	0	9	5
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,19:105:87:0|1:37887093_A_G:87,0,3229:37887093	4	0	11	4
chr19	38911828	38911828	C	T	exonic	CCER2	.	nonsynonymous SNV	CCER2:NM_001243212:exon2:c.G86A:p.R29K	.	382	1138	1	1	0	3	0.00131637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022496754663	.	0.000798722	0.0002	0.0042	0	0	0	0	0	0.0001	7.12e-05	11	154602	rs558631739	9.472e-05	8.961e-05	8.849e-05	0.0001	0.0006	8.127e-05	7.645e-05	0.0004	0.0004	3.167e-05	0.0006	0	0	0	0.0005	7.231e-05	0.0003	7.574e-05	0.0003	0.0003	0.0003	0.0003	0.0022	0.0002	0.0002	0.0016	0.0014	2.407e-05	0	0.0022	0	0	0	0	0.0001	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.118	0.10769	.	.	.	.	.	.	.	0.007925272	0.00180	T	0.022497	0.45395	T	.	.	.	.	0.289474373501	0.28556	0.12899263257918833	0.12824	0.023437749327	0.02374	.	.	.	0.007602	0.06996	T	-0.39249	0.02592	T	-0.479595	0.24489	T	.	.	.	.	.	.	0.115987144	0.27363	0.27946138	0.53914	0.115987144	0.27363	0.27946138	0.53913	-4.627	0.32509	T	.	.	0.169	0.37121	B	.	.	1.781154	0.22647	15.70	0.91707514157903058	0.21002	0.15140	0.18764	N	AEFDBHCI	0.191113	0.31832	N	.	.	.	.	.	.	0.209210232184989	0.18218	0.59774	0.34471	0	0.550933	0.16991	0	0.536957	0.11973	0	0.63947	0.58350	0	.	.	4.71	3.59	0.40253	0.627000	0.24200	2.198000	0.31263	0.599000	0.40250	0.056000	0.21631	0.186000	0.23459	0.652000	0.32748	0.0:0.7996:0.2004:0.0	10.283	0.42732	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	643.33	35	chr19	38911828	.	C	T	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.331;SOR=0.782	GT:AD:DP:GQ:PL	0/1:27,24:51:99:657,0,623	18	0	1	0
chr19	39875925	39875925	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon23:c.G10066A:p.G3356S	.	411	1095	16	0	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	.	7.7e-05	0.00279553	0.0023	0	0.0003	0	0	0.0002	0.0063	0.0144	0.0018305	283	154602	rs200280608	0.0011	0.0010	0.0006	0.0017	0.0149	0.0011	0.0011	0.0142	0.0139	7.603e-05	2.684e-05	5.93e-05	0	0	0.0025	0.0001	0.0010	0.0149	0.0006	0.0006	0.0004	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	0	0	0	0	0	9.423e-05	0.0034	0.0001	0	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003043	0.000000	0.001359	0.002941	0.000000	0.000000	0.009259	0.007692	0.05263	2805.83	46	chr19	39875925	.	C	T	2805.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.52;DP=1456;ExcessHet=0.119;FS=4.394;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.046;SOR=0.48	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1277,0,1557	17	0	2	0
chr19	39894036	39894036	C	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon13:c.G5725T:p.V1909F	.	412	1093	17	0	0	17	0.00771675	.	.	.	2367492	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.386	0.00284674624318	.	0.000199681	0	.	.	.	.	0	.	.	0.0001537	4	26028	rs550227994	0.0057	0.0048	0.0057	0.0058	0.0125	0.0056	0.0056	0.0099	0.0090	0.0010	0.0019	0.0084	0	0.0006	0.0125	0.0065	0.0049	0.0031	0.0035	0.0039	0.0037	0.0033	0.0059	0.0033	0.0032	0.0054	0.0052	0.0010	0	0.0024	0.0072	0	0.0008	0.0170	0.0059	0.0038	0.0014	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.995013	0.23391	N	.	.	.	.	.	.	.	.	.	.	.	-0.5352	0.67345	T	0.524	0.82273	D	9	0.011399686	0.00249	T	0.021154	0.43885	T	.	.	.	.	0.112648838833	0.10856	.	.	.	.	0.753210425377	0.74920	T	0.083963	0.37173	T	-0.377916	0.03211	T	-0.313292	0.43304	T	0.0338620387180759	0.02614	T	0.708829	0.31953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.55243	B	.	.	2.934333	0.38996	20.9	0.98959280823795115	0.49305	0.11887	0.16925	N	AEFI	0.117945	0.23083	N	-0.334312063072346	0.27853	1.531504	-0.607476441862748	0.19301	1.034911	1.48260693903531E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.31	1.22	0.20300	-0.251000	0.08837	.	.	0.425000	0.20843	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.2447:0.5981:0.0:0.1572	3.514	0.07278	722	0.55239	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1420.33	42	chr19	39894036	.	C	A	1420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=3816;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.8;MQRankSum=3.36;QD=4.83;ReadPosRankSum=0.631;SOR=0.497	GT:AD:DP:GQ:PL	0/1:222,72:294:99:1434,0,6669	18	0	1	0
chr19	39913825	39913825	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon6:c.G3262A:p.V1088M	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	.	0.0031	0.00299521	0.0010	0.0100	0.0006	0	0	1.504e-05	0.0033	0.0002	0.0009767	151	154602	rs34041323	0.0003	0.0002	0.0003	0.0002	0.0075	0.0002	0.0002	0.0067	0.0063	0.0075	0.0009	0	0	0	0.0011	4.612e-05	0.0005	0.0003	0.0027	0.0027	0.0027	0.0027	0.0087	0.0025	0.0024	0.0080	0.0077	0.0087	0	0.0022	0	0	0	0	5.881e-05	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.387646	0.13301	N	0.653573	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9061	0.47320	T	0.124	0.42820	T	10	0.007071495	0.00161	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416307151318	0.27329	T	.	.	.	-0.633928	0.00090	T	-0.676263	0.07214	T	0.0158963753480781	0.00374	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.124776	0.03496	0.657	0.9303503520925489	0.22637	0.06789	0.12812	N	AEFDBI	0.113743	0.22431	N	-1.40880747352035	0.02561	0.1132411	-1.62081903747571	0.01533	0.06947119	0.9999083926569	0.45458	0.516011	0.20929	0	0.588066	0.40923	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	5.33	-10.7	0.00191	-0.480000	0.06639	.	.	-1.862000	0.00561	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.269:0.1258:0.3929:0.2122	2.380	0.04086	702	0.57624	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1509.33	38	chr19	39913825	.	C	T	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=884;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=-0.709;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1523,0,942	18	0	1	0
chr19	39918300	39918300	G	A	exonic	FCGBP	.	stopgain	FCGBP:NM_003890:exon4:c.C1996T:p.Q666X	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs755987057	7.404e-06	6.156e-06	6.524e-06	8.3e-06	0.0007	3.48e-06	2.52e-06	0.0002	9.695e-05	0	0	0	0	0	0.0007	2.097e-06	0	4.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332162	0.14096	N	0.593958	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362076	0.87411	D	0.282321	0.87249	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.107856	0.96150	35	0.99803102062360516	0.88728	0.11435	0.16632	N	AEFDBI	0.114485	0.22547	N	0.411337586148236	0.62043	4.414167	0.192626785843434	0.49440	3.14735	0.0118116506182832	0.12240	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.34	3.03	0.34070	0.200000	0.17055	.	.	0.676000	0.76740	0.000000	0.06391	0.999000	0.35428	0.929000	0.46594	0.0:0.438:0.4209:0.141	9.216	0.36508	610	0.67008	von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3054.33	35	chr19	39918300	.	G	A	3054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.142;DP=843;ExcessHet=0;FS=0.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.018;SOR=0.623	GT:AD:DP:GQ:PL	0/1:90,116:206:99:3068,0,2403	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,13:38:99:0|1:40667975_C_T:428,0,952:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,13:38:99:0|1:40667975_C_T:428,0,952:40667975	1	7	11	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,19:74:91:.:.:91,0,1193:.	9	0	7	3
chr19	42225746	42225746	C	G	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.C1343G:p.S448C,ZNF526:NM_133444:exon3:c.C1343G:p.S448C	.	1	1515	5	1	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.168900059071	7.7e-05	.	0.0003	0	0	0	0	7.937e-05	0	0.0017	0.0002135	33	154602	rs375365588	0.0001	0.0001	7.659e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0	0.0001	0	0	0	0.0009	2.435e-05	0.0001	0.0015	6.636e-05	6.603e-05	5.187e-05	8.155e-05	0.0013	3.55e-05	2.74e-05	0.0006	0.0004	2.428e-05	0	0	0	0	0	0	4.439e-05	0	0.0013	0.085	0.32769	T	0.007	0.69154	D	0.833	0.46172	P	0.557	0.49454	P	0.101808	0.02554	N	2.070020	1	0.08975	N	1.78	0.46185	L	-1.17	0.78199	T	-3.07	0.63207	D	0.25	0.28264	-0.6405	0.63124	T	0.474	0.79800	T	10	0.043599367	0.03227	T	0.169	0.84687	D	0.343	0.66488	.	.	0.744868491062	0.74257	0.25657465678519664	0.25571	0.726517213602	0.62515	0.732311427593	0.71844	T	0.168333	0.51530	T	-0.373021	0.03444	T	-0.338674	0.40494	T	0.0929678740025025	0.11566	T	0.387161	0.09535	T	0.101342194	0.23937	0.105263256	0.25301	0.101342194	0.23937	0.105263256	0.25300	-7.029	0.54245	T	0.18805742168559167	0.24543	0.209	0.43585	B	.	.	2.888267	0.38240	20.7	0.9070336021829436	0.19954	0.10003	0.15626	N	AEFDBI	0.053924	0.09760	N	-0.231110832952674	0.31863	1.79101	-0.382746171988404	0.25511	1.403405	0.96513857846795	0.28810	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.59	1.14	0.19817	-0.089000	0.11146	1.790000	0.28791	0.594000	0.32500	0.000000	0.06391	0.115000	0.22839	0.995000	0.73285	0.1704:0.4999:0.3297:0.0	8.105	0.30040	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1149.33	43	chr19	42225746	.	C	G	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=834;ExcessHet=0;FS=2.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.672;SOR=1.013	GT:AD:DP:GQ:PL	0/1:49,38:87:99:1163,0,1562	18	0	1	0
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1598.83	35	chr19	42271989	.	G	A	1598.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.85;DP=693;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.373;SOR=0.688	GT:AD:DP:GQ:PL	0/1:23,24:47:99:798,0,572	17	0	2	0
chr19	42272348	42272348	C	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.C565A:p.P189T,CIC:NM_001379480:exon2:c.C565A:p.P189T,CIC:NM_001379482:exon2:c.C565A:p.P189T	.	493	1016	13	0	0	13	0.00635697	.	.	.	1687354	not_specified|CIC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs543498277	0.0017	0.0008	0.0018	0.0016	0.0131	0.0016	0.0015	0.0084	0.0069	0.0007	0.0028	0.0042	0	0.0006	0.0131	0.0018	0.0019	0.0082	0.0015	0.0015	0.0014	0.0016	0.0089	0.0013	0.0013	0.0068	0.0060	0.0003	0	0.0031	0.0020	0	0.0006	0.0136	0.0015	0.0019	0.0089	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	.	.	.	.	0.994921	0.23412	N	.	.	.	-5.06	0.98629	D	.	.	.	0.231	0.25989	.	.	.	.	.	.	.	0.011315763	0.00248	T	.	.	.	.	.	.	.	0.62136615551	0.61829	.	.	.	.	.	.	.	0.012308	0.10839	T	-0.219127	0.18111	T	-0.100767	0.63339	T	.	.	.	0.640436	0.25296	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.	.	2.520873	0.32578	19.08	0.98787946920913361	0.46237	0.76396	0.37464	D	AEFBCI	0.107073	0.21344	N	.	.	.	.	.	.	0.999994729941838	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	1.91	0.24841	1.927000	0.39724	2.635000	0.33717	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.659000	0.32940	0.1765:0.7262:0.0:0.0973	6.711	0.22466	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1545.33	35	chr19	42272348	.	C	A	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.955;DP=752;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=1.29;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1559,0,1156	18	0	1	0
chr19	42754576	42754576	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.C634T:p.L212F,PSG8:NM_001130167:exon5:c.C1000T:p.L334F,PSG8:NM_182707:exon5:c.C1000T:p.L334F	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00344463947793	0.0018	0.00219649	0.0029	0.0003	0.0008	0	0.0003	0.0033	0.0045	0.0069	0.0003881	60	154602	rs138526624	0.0037	0.0037	0.0036	0.0038	0.0070	0.0036	0.0036	0.0066	0.0064	0.0007	0.0018	0.0207	0	0.0009	0.0042	0.0035	0.0039	0.0070	0.0028	0.0028	0.0028	0.0027	0.0069	0.0025	0.0024	0.0050	0.0044	0.0005	0	0.0042	0.0194	0	0.0006	0.0137	0.0031	0.0062	0.0069	0.081	0.40068	T	0.715	0.30045	T	0.071	0.33288	B	0.071	0.37221	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	-0.67	0.72458	T	-1.53	0.38540	N	0.087	0.14763	-0.9856	0.33687	T	0.150	0.47804	T	9	0.0065600574	0.00149	T	0.003445	0.07755	T	0.190	0.46781	.	.	0.0138822411134	0.00435	0.03401639684023063	0.03349	0.035168581249	0.03706	0.317776501179	0.13084	T	0.017075	0.13992	T	-0.564746	0.00238	T	-0.580688	0.14484	T	0.00582703217703218	0.00064	T	0.166083	0.12757	T	0.039860595	0.05583	0.051991552	0.08479	0.039860595	0.05582	0.051991552	0.08479	-8.873	0.66875	D	.	.	0.081	0.11076	B	.;.;.;.	.;.;.;.	-0.926013	0.00883	0.032	0.75198454189926567	0.10982	0.00073	0.00509	N	AEFI	0.018037	0.00516	N	-1.61674121924936	0.01183	0.05143476	-1.77913934481223	0.00828	0.03699086	3.96889294915688E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-3.903000	0.00381	-20.000000	0.00162	-3.051000	0.00132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2365:0.1888:0.2255:0.3492	0.099	0.00043	431	0.80762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003735	0.000000	0.001359	0.004098	0.000000	0.008621	0.006289	0.003817	0.02632	2509.33	39	chr19	42754576	.	G	A	2509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.45;DP=825;ExcessHet=0;FS=14.158;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.57;MQRankSum=-0.903;QD=15.78;ReadPosRankSum=-0.362;SOR=0.182	GT:AD:DP:GQ:PL	0/1:81,78:159:99:2523,0,2473	18	0	1	0
chr19	44086227	44086227	G	A	exonic	ZNF284	.	nonsynonymous SNV	ZNF284:NM_001037813:exon5:c.G749A:p.C250Y	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00153053313133	0.0005	0.000199681	0.0009	0	0.0008	0.0002	0	0.0011	0.0011	0.0010	0.0007568	117	154602	rs200659383	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0	0.0005	0.0171	0	0	0.0042	0.0002	0.0015	0.0008	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0002	0.0002	0	0	0.0003	0.0170	0	0	0.0068	0.0003	0.0024	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.037	0.20876	B	0.05	0.25278	B	.	.	.	.	1	0.08975	N	0.04	0.08086	N	2.26	0.17596	T	-3.56	0.68880	D	0.092	0.07125	-0.9790	0.35231	T	0.018	0.07423	T	9	0.0058813393	0.00132	T	0.001531	0.02394	T	0.019	0.03383	.	.	0.119812018005	0.11559	0.027686651017446717	0.02718	0.187302612443	0.21046	0.280146718025	0.07513	T	0.069564	0.33741	T	-0.497191	0.00593	T	-0.543305	0.17972	T	0.0215897335365449	0.00864	T	0.494051	0.15283	T	0.08099563	0.18587	0.22299524	0.47163	0.08099563	0.18587	0.22299524	0.47162	-3.313	0.13906	T	.	.	0.188	0.40586	B	.	.	-0.717053	0.01282	0.068	0.8747511911082112	0.17254	0.01821	0.05662	N	AEFGBI	0.023491	0.01316	N	-1.12880023001439	0.06135	0.2816392	-1.15688933257184	0.06645	0.3205536	2.84835917260043E-4	0.06355	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	2.58	-0.602	0.11051	-0.455000	0.06837	.	.	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.5965:0.0:0.4035:0.0	5.334	0.15253	661	0.61838	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2281.33	225	chr19	44086227	.	G	A	2281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=3203;ExcessHet=0;FS=3.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.286;SOR=0.962	GT:AD:DP:GQ:PL	0/1:139,90:229:99:2295,0,3856	18	0	1	0
chr19	44157110	44157110	T	C	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.T1094C:p.I365T,ZNF234:NM_006630:exon6:c.T1094C:p.I365T	.	408	1110	4	0	0	4	0.00179856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00556321712391	.	.	0.0003	0	0.0024	0	0	0.0001	0.0033	6.057e-05	0.0002652	41	154602	rs764844698	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0010	2.987e-05	0.0014	0	0	1.872e-05	0.0014	7.554e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	7.091e-05	5.747e-05	0.0002	0.0002	4.824e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0	0.078	0.33923	T	0.072	0.43344	T	0.896	0.49324	P	0.433	0.45477	B	.	.	.	.	0.999944	0.19238	N	0.21	0.09513	N	5.47	0.00949	T	-2.79	0.59059	D	0.162	0.17002	-0.8273	0.53473	T	0.002	0.00707	T	9	0.02313748	0.00597	T	0.005563	0.14349	T	0.067	0.19503	.	.	0.177238962908	0.17366	0.010903395559772308	0.01051	0.317716590837	0.34012	0.495984464884	0.38269	T	0.038749	0.24948	T	-0.613265	0.00121	T	-0.699241	0.05867	T	0.0646675878635193	0.07882	T	0.784922	0.42251	T	0.03506734	0.04056	0.09592173	0.22769	0.03506734	0.04056	0.09592173	0.22768	-5.007	0.36916	T	.	.	0.663	0.71435	P	.;.	.;.	2.158978	0.27505	17.48	0.9966405009232302	0.78138	0.19263	0.20592	N	AEFGBHI	0.058292	0.10927	N	-0.479056165621961	0.22769	1.21806	-0.526019867824481	0.21448	1.160298	0.0111044797586929	0.12131	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.12	1.92	0.24912	-0.391000	0.07383	.	.	0.645000	0.52629	0.000000	0.06391	0.000000	0.08366	0.403000	0.26849	0.0:0.186:0.1676:0.6463	4.573	0.11614	846	0.36215	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1712.33	33	chr19	44157110	.	T	C	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.639;DP=857;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.266;SOR=0.634	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1726,0,1958	18	0	1	0
chr19	44820707	44820707	C	T	exonic	BCAM	.	nonsynonymous SNV	BCAM:NM_005581:exon14:c.C1766T:p.P589L	.	415	1094	13	0	0	13	0.00590641	.	.	.	2808884	not_provided|BCAM-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0040	0.00139776	0.0157	0.0025	0.0059	0	0.0268	0.0244	0	0.0068	0.0034282	530	154602	rs199854072	0.0053	0.0051	0.0052	0.0054	0.0057	0.0052	0.0051	0.0056	0.0055	0.0006	0.0017	0.0085	0	0.0051	0.0056	0.0057	0.0052	0.0032	0.0040	0.0040	0.0042	0.0037	0.0065	0.0037	0.0036	0.0060	0.0058	0.0008	0	0.0030	0.0081	0	0.0037	0.0034	0.0065	0.0033	0.0023	0.035	0.43708	D	0.133	0.34359	T	0.885	0.48692	P	0.073	0.28123	B	.	.	.	.	0.978567	0.39474	D	0.69	0.16971	N	0.1	0.61326	T	-2.73	0.58085	D	0.402	0.44283	-0.9670	0.37814	T	0.069	0.28180	T	9	0.0057311356	0.00128	T	.	.	.	0.137	0.36984	.	.	0.322510055762	0.31862	0.28723523155016706	0.28636	0.233912670961	0.25927	0.516723573208	0.41165	T	0.332872	0.70279	T	-0.38044	0.03097	T	-0.314687	0.43155	T	0.0144154059033778	0.00290	T	0.759324	0.38363	T	0.082911685	0.19121	0.10947777	0.26387	0.09286807	0.21797	0.12886077	0.30993	-4.378	0.29257	T	.	.	0.074	0.05231	B	.	.	2.816603	0.37091	20.4	0.82080022366800431	0.14008	0.21612	0.21463	N	AEFDBHCI	0.148151	0.27198	N	-0.0544417145878932	0.39404	2.323184	-0.0388306759936838	0.37978	2.231064	0.989842956321771	0.31953	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.604282	0.37693	0	.	.	4.39	3.32	0.37134	1.895000	0.39411	.	.	0.593000	0.32247	0.935000	0.32453	1.000000	0.68203	0.047000	0.14932	0.0:0.8882:0.0:0.1118	8.920	0.34763	604	0.67577	.	.	.	.	.	.	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	0.005133	0.000000	0.008197	0.000000	0.000000	0.000000	0.009494	0.000000	0.02632	386.33	30	chr19	44820707	.	C	T	386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.545;DP=539;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.503;SOR=0.277	GT:AD:DP:GQ:PL	0/1:19,15:34:99:400,0,565	18	0	1	0
chr19	46022911	46022911	G	T	exonic	PGLYRP1	.	nonsynonymous SNV	PGLYRP1:NM_005091:exon1:c.C111A:p.N37K	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00469813131681	.	0.000599042	0.0003	0	0	0.0021	0	0.0001	0.0027	0.0006	0.0002329	36	154602	rs201657564	0.0002	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0024	0.0022	2.989e-05	0	7.685e-05	0.0028	0	0	5.129e-05	0.0002	0.0005	7.875e-05	7.873e-05	6.422e-05	9.393e-05	0.0019	4.491e-05	3.508e-05	0.0010	0.0008	0	0	0	0	0.0019	0	0	1.47e-05	0	0.0002	0.192	0.20988	T	0.627	0.07267	T	0.0	0.02946	B	0.0	0.01387	B	0.815251	0.06851	N	1.101540	0.999995	0.08975	N	1.61	0.41143	L	1.03	0.40469	T	-0.03	0.07444	N	0.074	0.04790	-1.0560	0.12776	T	0.025	0.10464	T	10	0.0053204894	0.00117	T	0.004698	0.11691	T	0.006	0.00375	0.44	0.49484	0.0297737177859	0.01360	0.24773315690251207	0.24687	0.27921572844	0.30403	0.397753357887	0.24755	T	0.053422	0.29440	T	-0.596377	0.00153	T	-0.634357	0.10086	T	0.0939392408674916	0.11677	T	0.279972	0.04873	T	0.08982842	0.21001	0.073207155	0.15881	0.08982842	0.21001	0.073207155	0.15881	-3.734	0.19821	T	.	.	0.117	0.23744	B	.	.	-1.467952	0.00315	0.005	0.70826096264679939	0.09424	0.00561	0.02556	N	AEFDBI	0.038514	0.05460	N	-1.77982651153589	0.00596	0.02569743	-1.87976819733869	0.00536	0.02379689	0.999997531936235	0.74766	0.205752	0.04085	2	0.550933	0.16991	0	0.459711	0.06710	0	0.526665	0.08891	0	.	.	4.65	-9.3	0.00551	-2.547000	0.01007	-7.190000	0.01211	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2551:0.4178:0.1111:0.2161	2.532	0.04418	684	0.59539	Peptidoglycan recognition protein family domain, metazoa/bacteria	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.005848	0.000000	0.000000	0.003067	0.003788	0.02632	937.33	33	chr19	46022911	.	G	T	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.505;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.754;SOR=0.68	GT:AD:DP:GQ:PL	0/1:45,38:83:99:951,0,1138	18	0	1	0
chr19	47751077	47751077	C	T	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon4:c.C568T:p.R190W	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.270329695116	0.0012	0.00119808	0.0026	0.0004	0.0041	0.0002	0.0004	0.0028	0.0019	0.0043	0.0016365	253	154602	rs34462252	0.0013	0.0013	0.0012	0.0015	0.0111	0.0013	0.0013	0.0089	0.0081	0.0004	0.0015	0.0024	2.527e-05	0.0001	0.0111	0.0011	0.0022	0.0039	0.0016	0.0016	0.0015	0.0017	0.0043	0.0015	0.0014	0.0029	0.0026	0.0005	0	0.0037	0.0037	0	9.416e-05	0.0068	0.0018	0.0052	0.0043	0.005	0.63226	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.39	0.68181	T	-3.56	0.68880	D	0.55	0.57604	-0.7059	0.60154	T	0.205	0.56321	T	10	0.017251283	0.00367	T	0.27033	0.89854	D	0.298	0.61843	.	.	0.893969425137	0.89292	0.4509957738623177	0.45017	0.273752085707	0.29871	0.47730717063	0.35686	T	0.13954	0.47362	T	-0.194898	0.21542	T	-0.056098	0.66603	D	0.0466788899782708	0.04907	T	0.828317	0.49240	T	0.2381095	0.46684	0.1718723	0.39401	0.2381095	0.46684	0.1718723	0.39400	-9.488	0.70784	D	.	.	0.105	0.26042	B	.;.	.;.	3.969294	0.58269	24.0	0.99910210986413062	0.97949	0.81910	0.41222	D	AEFDBCI	0.807345	0.73141	D	0.379690706283774	0.60323	4.21994	0.245008969649027	0.52365	3.412	0.404079951112443	0.20155	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.38	3.25	0.36363	0.722000	0.25595	0.735000	0.21116	0.599000	0.40250	0.901000	0.31451	0.837000	0.27266	0.623000	0.31974	0.2205:0.7795:0.0:0.0	9.004	0.35264	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	0.007583	0.000000	0.009537	0.011765	0.150000	0.000000	0.003067	0.007576	0.02632	838.33	34	chr19	47751077	.	C	T	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.503;DP=699;ExcessHet=0;FS=4.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.752;SOR=0.321	GT:AD:DP:GQ:PL	0/1:39,33:72:99:852,0,954	18	0	1	0
chr19	47802959	47802964	CGCGGC	-	exonic	TPRX1	.	nonframeshift deletion	TPRX1:NM_198479:exon2:c.47_52del:p.R16_A18delinsP	.	11	1490	18	3	0	24	0.00798935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.000998403	0.0125	0.0013	0.0046	0	0.0450	0.0189	0.0197	0.0055	0.0006916	18	26028	rs554429070	0.0047	0.0048	0.0046	0.0048	0.0097	0.0046	0.0046	0.0074	0.0066	0.0006	0.0017	0.0039	0	0.0232	0.0097	0.0045	0.0047	0.0035	0.0058	0.0059	0.0049	0.0069	0.0074	0.0055	0.0054	0.0068	0.0066	0.0006	0	0.0031	0.0055	0	0.0249	0.0068	0.0074	0.0057	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2187.29	35	chr19	47802958	.	GCGCGGC	G	2187.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.401;DP=806;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.2;MQRankSum=-0.957;QD=24.04;ReadPosRankSum=0.722;SOR=0.532	GT:AD:DP:GQ:PL	0/1:36,55:91:99:2201,0,1346	18	0	1	0
chr19	48345297	48345297	C	T	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303538:exon3:c.G322A:p.D108N,TMEM143:NM_018273:exon4:c.G427A:p.D143N	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0072	0.00379393	0.0081	0.0014	0.0108	0	0.0015	0.0114	0.0059	0.0035	0.0076713	1186	154602	rs34488893	0.0086	0.0086	0.0088	0.0084	0.0098	0.0084	0.0084	0.0096	0.0096	0.0013	0.0096	0.0083	0	0.0027	0.0084	0.0098	0.0086	0.0029	0.0063	0.0063	0.0062	0.0064	0.0101	0.0060	0.0059	0.0088	0.0084	0.0025	0.0121	0.0101	0.0058	0	0.0016	0.0306	0.0092	0.0076	0.0023	0.2	0.23997	T	0.0	0.92824	D	0.009	0.20732	B	0.007	0.16012	B	0.000018	0.62929	D	0.000000	0.647612	0.81001	D	2.095	0.58118	M	0.81	0.49358	T	-1.23	0.31170	N	0.315	0.36148	-1.0577	0.12337	T	0.073	0.29419	T	10	0.004316032	0.00087	T	.	.	.	0.140	0.37593	.	.	0.292062946507	0.28806	0.5104324674942305	0.50965	0.291305071471	0.31533	0.473314523697	0.35136	T	0.040388	0.25509	T	-0.603541	0.00139	T	-0.629334	0.10466	T	0.0141490791173392	0.00277	T	0.752425	0.37456	T	0.14458154	0.33180	0.1222838	0.29499	0.14458154	0.33180	0.1222838	0.29498	-4.601	0.32184	T	.	.	0.111	0.36174	B	.;.;.	.;.;.	3.197432	0.43469	21.7	0.99240108211587252	0.56501	0.85516	0.44656	D	AEFDBI	0.393075	0.47086	N	-0.357937413184623	0.26981	1.47683	-0.241450322178204	0.30068	1.689757	0.978063105480638	0.29883	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.33	4.33	0.51083	3.270000	0.51303	4.728000	0.44539	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	15.989	0.79977	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	0.006048	0.015152	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	618.33	33	chr19	48345297	.	C	T	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=692;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.326;SOR=0.579	GT:AD:DP:GQ:PL	0/1:40,27:67:99:632,0,1067	18	0	1	0
chr19	48859476	48859476	-	C	exonic	PLEKHA4	.	frameshift insertion	PLEKHA4:NM_001161354:exon7:c.684dupG:p.S229Efs*49,PLEKHA4:NM_020904:exon7:c.684dupG:p.S229Efs*49	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	445.29	35	chr19	48859476	.	T	TC	445.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.152;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.575;SOR=0.91	GT:AD:DP:GQ:PL	0/1:23,17:40:99:459,0,700	18	0	1	0
chr19	49364606	49364606	G	A	exonic	DKKL1	.	nonsynonymous SNV	DKKL1:NM_001197301:exon2:c.G35A:p.R12Q,DKKL1:NM_014419:exon2:c.G35A:p.R12Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00622144632985	.	.	5.046e-05	0	0	0	0	3.052e-05	0	0.0003	3.88e-05	6	154602	rs778820244	2.808e-05	2.805e-05	2.044e-05	3.579e-05	0.0004	2.089e-05	1.88e-05	0.0002	0.0001	0	2.238e-05	0	0	0	0.0004	1.529e-05	1.66e-05	0.0002	2.627e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.23	0.18308	T	0.412	0.14544	T	0.606	0.39465	P	0.067	0.27542	B	0.005809	0.01096	N	3.146000	1	0.08975	N	0.69	0.16971	N	2.42	0.16217	T	-0.8	0.22078	N	0.14	0.13911	-1.0331	0.19459	T	0.023	0.09650	T	10	0.065378726	0.08810	T	0.006221	0.16317	T	0.061	0.17616	0.165	0.06955	0.0401082797425	0.02173	0.19984329664463513	0.19901	0.161424824733	0.18220	0.41400295496	0.27011	T	0.074985	0.35071	T	-0.468531	0.00868	T	-0.631354	0.10312	T	0.0605053454637527	0.07248	T	0.475652	0.14239	T	0.036716223	0.04569	0.046905685	0.06640	0.036716223	0.04569	0.046905685	0.06640	-5.402	0.40938	T	.	.	0.101	0.17445	B	.;.	.;.	2.553748	0.33063	19.23	0.94695598440418138	0.25343	0.43609	0.27136	N	AEFDBI	0.124165	0.24010	N	-0.796990465574189	0.13389	0.6591825	-0.857046437009559	0.13118	0.6787681	0.999941381511016	0.47345	0.580535	0.33130	0	0.547309	0.14657	0	0.459711	0.06710	0	0.604944	0.38103	0	.	.	3.25	-0.379	0.11871	3.039000	0.49481	5.220000	0.47996	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.1234:0.0:0.4452:0.4314	3.979	0.08977	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	33	chr19	49364606	.	G	A	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=624;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.299;SOR=0.649	GT:AD:DP:GQ:PL	0/1:23,25:48:99:693,0,543	18	0	1	0
chr19	51354373	51354373	G	A	exonic	ETFB	.	nonsynonymous SNV	ETFB:NM_001014763:exon1:c.C266T:p.A89V	Glutaric acidemia IIB, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.101679014282	0.0002	.	2.481e-05	9.66e-05	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs143544475	6.157e-06	6.156e-06	6.806e-06	5.501e-06	8.961e-05	2.9e-06	2.1e-06	2.375e-05	1.258e-05	8.961e-05	6.709e-05	0	2.519e-05	0	0	8.993e-07	0	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.544e-05	0	0.0002	0	0	0	0	0	0.526	0.07116	T	0.537	0.09863	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.18198	N	.	.	.	-1.78	0.83737	D	-0.94	0.25118	N	0.06	0.03175	-0.9108	0.46756	T	0.251	0.62096	T	7	0.03958878	0.02461	T	0.101679	0.77470	D	0.141	0.37795	.	.	0.126345400529	0.12197	0.4139327008994937	0.41309	0.219908508843	0.24531	0.390476286411	0.23736	T	.	.	.	-0.35184	0.04612	T	-0.546199	0.17693	T	0.0174009127874513	0.00478	T	0.341666	0.07415	T	.	.	.	.	.	.	.	.	-3.855	0.21629	T	.	.	0.127	0.27131	B	.	.	-0.532862	0.01765	0.134	0.63818474965286753	0.07325	0.00312	0.01649	N	AEFDGBHCI	.	.	.	-1.73018526828149	0.00740	0.03195969	-1.87329315326503	0.00552	0.02449099	0.999999999999962	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	4.49	-8.98	0.00647	-1.745000	0.01930	.	.	-2.535000	0.00252	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5027:0.3795:0.1179:0.0	8.449	0.32021	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	.	.	.	.	.	.	.	.	0.05263	3951.83	37	chr19	51354373	.	G	A	3951.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=916;ExcessHet=0.119;FS=2.026;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.098;SOR=0.754	GT:AD:DP:GQ:PL	0/1:62,70:132:99:2068,0,1517	17	0	2	0
chr19	53491514	53491514	C	T	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon4:c.C1282T:p.R428C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00183739591701	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	4.789e-06	4.788e-06	2.723e-06	6.877e-06	2.319e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	3.313e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.095	0.39492	T	0.018	0.17786	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	2.16	0.60381	M	1.72	0.26588	T	0.06	0.06253	N	0.102	0.08506	-0.9695	0.37304	T	0.077	0.30737	T	9	0.09213516	0.16198	T	0.001837	0.03193	T	0.025	0.05312	0.379	0.39482	0.130388298395	0.12655	0.025469514468854093	0.02497	0.0493026568608	0.05396	0.436869502068	0.30150	T	0.012909	0.11259	T	-0.313046	0.07483	T	-0.687446	0.06538	T	0.114047645824991	0.13838	T	0.194281	0.02108	T	0.03492902	0.04013	0.032535277	0.02003	0.03492902	0.04013	0.032535277	0.02003	-4.863	0.35317	T	.	.	0.194	0.41464	B	.	.	0.735484	0.11045	7.702	0.63905302061807823	0.07348	0.01329	0.04584	N	AEFBI	.	.	.	-1.00549427676257	0.08489	0.3982277	-1.1925135655614	0.06034	0.2892512	9.36800686006622E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.28	-0.413	0.11747	-4.574000	0.00246	.	.	-0.654000	0.04376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5096:0.4903:0.0	7.711	0.27845	994	0.00715	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	0.001589	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	3399.33	259	chr19	53491514	.	C	T	3399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.31;DP=3944;ExcessHet=0;FS=14.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.741;QD=9.39;ReadPosRankSum=-0.119;SOR=1.286	GT:AD:DP:GQ:PL	0/1:235,127:362:99:3413,0,6209	18	0	1	0
chr19	54155817	54155817	T	G	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.A699C:p.E233D	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00331538677278	0.0009	0.000599042	0.0009	0.0008	0.0007	0.0023	0	0.0009	0.0027	0.0005	0.000705	109	154602	rs146921339	0.0006	0.0006	0.0006	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0008	0.0008	0	0.0013	1.9e-05	0.0042	0.0005	0.0008	0.0005	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0004	0.0010	0.0007	0.0008	0	0.0003	0	0.0012	0	0.0034	0.0005	0.0009	0.0019	0.41	0.10148	T	0.202	0.27414	T	.	.	.	.	.	.	0.000931	0.00711	N	10.451800	0.999996	0.08975	N	.	.	.	0.82	0.48142	T	-1.1	0.28497	N	0.09	0.06854	-0.9557	0.39970	T	0.169	0.50842	T	10	0.004676223	0.00098	T	0.003315	0.07359	T	0.062	0.17934	0.11	0.02049	0.33835085245	0.33439	0.16810999960807635	0.16730	0.0208642183432	0.02063	0.48943144083	0.37359	T	.	.	.	-0.579198	0.00195	T	-0.623769	0.10891	T	0.0190144803108184	0.00610	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10304	B	.	.	-0.575392	0.01640	0.114	0.97684303309218157	0.35335	0.15684	0.19032	N	AEFDBHCI	0.093529	0.18923	N	-1.2269822642748	0.04612	0.2085157	-1.38205659021072	0.03443	0.160615	0.999945673737073	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.17	-2.72	0.05616	-3.251000	0.00597	.	.	-0.915000	0.02235	0.000000	0.06391	0.052000	0.21854	0.003000	0.05239	0.0:0.3636:0.1387:0.4978	5.792	0.17630	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	0.001517	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1302.83	37	chr19	54155817	.	T	G	1302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.132;DP=756;ExcessHet=0.119;FS=2.009;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.376;SOR=0.891	GT:AD:DP:GQ:PL	0/1:44,31:75:99:613,0,1118	17	0	2	0
chr19	54783658	54783658	C	G	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon8:c.C892G:p.Q298E,KIR2DL1:NM_014218:exon8:c.C892G:p.Q298E,KIR2DL2:NM_014219:exon8:c.C892G:p.Q298E	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.000895883735407	.	.	0.0003	0.0002	0.0001	0	0	2.798e-05	0	0.0017	.	.	.	rs766955777	3.968e-05	4.104e-05	3.267e-05	4.676e-05	0.0005	3.113e-05	2.847e-05	0.0004	0.0004	2.987e-05	0	0	2.519e-05	0	0	8.993e-06	1.656e-05	0.0005	7.89e-05	7.88e-05	0.0001	5.385e-05	0.0012	4.499e-05	3.514e-05	0.0005	0.0004	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0012	0.112	0.28900	T	0.065	0.45744	T	0.006	0.13644	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	7.18	0.00492	T	-1.3	0.33998	N	0.191	0.31590	-0.8109	0.54496	T	0.002	0.00769	T	9	0.022644341	0.00571	T	8.96E-4	0.00822	T	0.075	0.21907	0.311	0.28451	0.436780212511	0.43300	0.03217987791316938	0.03165	2.91012196725	0.99100	0.447773337364	0.31640	T	0.051565	0.28916	T	-0.338482	0.05494	T	-0.5323	0.19058	T	0.018877986818552	0.00598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01622	B	.;.	.;.	0.131888	0.05272	1.772	0.96329481011587981	0.29443	0.00898	0.03523	N	AEFDBI	0.046278	0.07667	N	-0.767993547370789	0.14149	0.7025105	-0.923847191844141	0.11532	0.5880643	2.25101053865885E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.08	1.08	0.19456	-0.034000	0.12176	.	.	0.361000	0.20101	0.113000	0.23048	0.000000	0.08366	0.103000	0.18424	0.0:1.0:0.0:0.0	5.543	0.16334	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	.	.	.	.	.	.	.	.	0.05263	12193.8	489	chr19	54783658	.	C	G	12193.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.817;DP=5685;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.83;MQRankSum=0.539;QD=13.18;ReadPosRankSum=-0.434;SOR=0.672	GT:AD:DP:GQ:PL	0/1:247,238:485:99:6290,0,6471	17	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,109:109:99:.:.:4802,335,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,109:109:99:.:.:4802,335,0:.	0	15	4	0
chr19	56578002	56578002	G	A	exonic	ZNF470	.	nonsynonymous SNV	ZNF470:NM_001001668:exon6:c.G1573A:p.A525T	.	404	1098	20	0	0	20	0.00902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00214798118643	0.0009	0.00219649	0.0017	0.0002	0.0007	0	0.0003	0.0008	0.0011	0.0085	0.0015524	240	154602	rs140617949	0.0010	0.0010	0.0007	0.0013	0.0078	0.0009	0.0009	0.0073	0.0071	0	0.0003	0.0005	2.519e-05	0.0002	0.0061	0.0006	0.0007	0.0078	0.0006	0.0007	0.0006	0.0007	0.0090	0.0005	0.0005	0.0068	0.0061	0.0001	0	0.0001	0.0003	0	0	0.0034	0.0006	0.0014	0.0090	0.383	0.11085	T	0.513	0.10714	T	0.176	0.28893	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.28	0.03718	N	3.14	0.07920	T	-0.71	0.20145	N	0.026	0.00571	-0.9535	0.40363	T	0.009	0.03054	T	9	0.0044696033	0.00092	T	0.002148	0.04016	T	0.026	0.05648	.	.	0.136095386433	0.13204	0.006799103990396852	0.00646	0.0146560871021	0.01391	0.289073169231	0.08787	T	4.45E-4	0.00152	T	-0.646788	0.00076	T	-0.696434	0.06023	T	0.000995475247702757	0.00010	T	0.222678	0.02881	T	0.017177837	0.00252	0.034363244	0.02489	0.017177837	0.00252	0.034363244	0.02489	-5.025	0.37110	T	.	.	0.082	0.08948	B	.;.	.;.	1.655126	0.21113	15.06	0.9462897738536632	0.25214	0.00983	0.03743	N	AEFBHCI	0.038617	0.05492	N	-1.02630701277597	0.08061	0.3766292	-0.924446865670989	0.11517	0.5872544	4.08288552470761E-4	0.06860	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	4.37	2.12	0.26372	1.027000	0.29721	.	.	-0.118000	0.14412	0.002000	0.15269	0.000000	0.08366	0.741000	0.35472	0.2087:0.1704:0.6209:0.0	5.554	0.16394	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	914.33	58	chr19	56578002	.	G	A	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=1038;ExcessHet=0;FS=3.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.614;SOR=1.037	GT:AD:DP:GQ:PL	0/1:37,29:66:99:928,0,1001	18	0	1	0
chr19	58569343	58569343	C	T	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon5:c.G706A:p.G236S,MZF1:NM_003422:exon5:c.G706A:p.G236S,MZF1:NM_198055:exon5:c.G706A:p.G236S	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00459960087461	7.7e-05	0.000998403	0.0010	0	0	0.0001	0	0.0003	0	0.0064	0.0008732	135	154602	rs201976128	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0004	0.0055	0.0053	2.987e-05	2.238e-05	0	0	0	0.0003	0.0002	0.0005	0.0059	0.0003	0.0003	0.0003	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	4.816e-05	0	0	0	0	0	0	0.0003	0.0005	0.0052	0.426	0.09658	T	0.709	0.07127	T	0.099	0.25639	B	0.056	0.26147	B	0.758232	0.06524	N	1.182330	1	0.08975	N	0.695	0.17993	N	4.02	0.06368	T	-0.13	0.08971	N	0.358	0.45047	-0.9211	0.45403	T	0.010	0.03811	T	10	0.0033762455	0.00059	T	0.005	0.11377	T	0.027	0.05988	.	.	0.18995819373	0.18626	0.05734852282106912	0.05675	0.126856123759	0.14296	0.433320224285	0.29663	T	0.070114	0.42045	T	-0.600961	0.00144	T	-0.633126	0.10178	T	0.0149945699265019	0.00322	T	0.640736	0.25328	T	0.030657005	0.02766	0.042213462	0.04976	0.030657005	0.02766	0.042213462	0.04976	-3.708	0.21749	T	.	.	0.109	0.21766	B	.;.;.;.	.;.;.;.	1.967619	0.24995	16.60	0.87650985141188942	0.17381	0.04554	0.10194	N	AEFBHI	0.057652	0.10756	N	-1.16856503768916	0.05481	0.2499817	-1.17693642575195	0.06296	0.3026496	0.988748313294207	0.31614	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.87	1.66	0.23081	0.596000	0.23744	0.977000	0.23099	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.5457:0.4543:0.0:0.0	9.816	0.40021	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003817	0.02632	1727.33	34	chr19	58569343	.	C	T	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=780;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.069;SOR=0.818	GT:AD:DP:GQ:PL	0/1:82,64:146:99:1741,0,2415	18	0	1	0
chr20	3692005	3692005	G	A	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon16:c.C4228T:p.R1410W,SIGLEC1:NM_023068:exon17:c.C4228T:p.R1410W	.	418	1103	1	0	0	1	0.000453104	.	.	.	2758033	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0143401279397	.	0.000199681	0.0001	0	0.0004	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs200539652	5.612e-05	5.814e-05	5.856e-05	5.366e-05	0.0010	4.612e-05	4.238e-05	0.0005	0.0003	0	8.95e-05	3.827e-05	2.519e-05	0	0.0010	5.037e-05	6.624e-05	0.0001	4.594e-05	4.593e-05	6.423e-05	2.684e-05	0.0002	2.107e-05	1.525e-05	1.972e-05	1.124e-05	2.404e-05	0	6.532e-05	0	0.0002	0	0	5.88e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.118745	0.19102	N	0.279293	0.670265	0.30370	N	2.675	0.78361	M	-0.89	0.74793	T	-2.89	0.60665	D	0.372	0.41360	-0.8315	0.53204	T	0.162	0.49814	T	10	0.47027332	0.59819	T	0.01434	0.34391	T	0.425	0.73299	.	.	0.481764910267	0.47805	0.6426243454868312	0.64197	0.141425842094	0.15943	0.295264065266	0.09697	T	0.542847	0.84378	D	-0.152441	0.27929	T	-0.177312	0.56770	T	0.44066110253334	0.30454	T	0.883212	0.60517	D	0.11380329	0.26873	0.10166563	0.24345	0.11380329	0.26873	0.10166563	0.24345	-7.597	0.58290	D	.	.	0.085	0.10256	B	.	.	2.843248	0.37519	20.5	0.99902239160485817	0.97350	0.11494	0.16671	N	AEFDBI	0.382696	0.46449	N	-0.30833181677038	0.28830	1.593545	-0.415831426774459	0.24532	1.343906	0.0356875802711489	0.14211	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.5	1.17	0.19998	-0.593000	0.05835	-0.171000	0.11226	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1719:0.0:0.4818:0.3463	4.429	0.10944	720	0.55521	Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1030.33	35	chr20	3692005	.	G	A	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=691;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.517;SOR=0.558	GT:AD:DP:GQ:PL	0/1:25,37:62:99:1044,0,587	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:71,34:114:99:150,0,1212	3	0	14	2
chr20	21705764	21705764	G	C	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_001257096:exon1:c.G52C:p.G18R,PAX1:NM_006192:exon1:c.G52C:p.G18R	.	409	1112	1	0	0	1	0.000449438	.	.	.	1461836	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.212	0.427053480083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347724154	1.98e-05	1.573e-05	1.548e-05	2.455e-05	2.246e-05	1.296e-05	1.107e-05	1.443e-05	1.225e-05	0	0	0	0	0	0	2.246e-05	2.253e-05	0	1.982e-05	1.97e-05	1.291e-05	2.708e-05	4.437e-05	5.27e-06	2.46e-06	1.178e-05	6.27e-06	0	0	0	0	0	0	0	4.437e-05	0	0	0.436	0.09374	T	1.0	0.02429	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	-4.24	0.97030	D	0.67	0.02263	N	0.105	0.08925	-0.1952	0.77795	T	0.606	0.86026	D	9	0.04851672	0.04313	T	0.427053	0.93908	D	0.212	0.50341	0.295	0.25881	0.357630699053	0.35373	0.11209258497823062	0.11138	1.5625050048	0.88054	0.826009631157	0.85951	D	0.063496	0.32191	T	-0.0370422	0.46387	T	-0.290985	0.45671	T	0.0323329494781632	0.02360	T	0.435056	0.11905	T	0.06678913	0.14405	0.107651986	0.25920	0.06678913	0.14404	0.107651986	0.25919	-3.794	0.20715	T	.	.	0.103	0.18331	B	.;.	.;.	0.441265	0.08112	4.843	0.64822075349500408	0.07600	0.02385	0.06772	N	AEFDBHCI	0.027993	0.02386	N	-1.18379152044342	0.05245	0.2386357	-1.10474956808205	0.07609	0.3707805	0.967878330349396	0.29010	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.47	-0.29	0.12211	0.006000	0.13051	0.271000	0.16657	-0.271000	0.06739	0.023000	0.19925	0.046000	0.21717	0.599000	0.31363	0.2807:0.2942:0.4251:0.0	7.013	0.24050	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	484.33	33	chr20	21705764	.	G	C	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.391;DP=695;ExcessHet=0;FS=6.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=-0.087;SOR=1.605	GT:AD:DP:GQ:PL	0/1:44,25:69:99:498,0,1085	18	0	1	0
chr20	24970239	24970239	C	T	exonic	APMAP	.	nonsynonymous SNV	APMAP:NM_020531:exon6:c.G671A:p.R224Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	3289773	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0122538035884	.	.	4.119e-05	0	8.637e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs779248044	1.163e-05	1.163e-05	1.361e-05	9.625e-06	8.944e-05	7.08e-06	5.79e-06	2.995e-05	2.038e-05	2.987e-05	8.944e-05	0	0	0	0	4.496e-06	1.656e-05	6.956e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	5.289e-05	2.836e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.037	0.43085	D	0.145	0.33000	T	0.843	0.46605	P	0.316	0.41603	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.585	0.39878	L	0.8	0.48769	T	-1.89	0.44094	N	0.199	0.21969	-0.9595	0.39274	T	0.171	0.51293	T	10	0.23790279	0.40900	T	0.012254	0.30654	T	0.084	0.24469	.	.	0.671057921682	0.66827	0.5572180147274604	0.55648	0.333103512949	0.35346	0.379704803228	0.22215	T	0.015481	0.12979	T	-0.11276	0.34315	T	-0.140069	0.60112	T	0.285094874210561	0.24385	T	0.90391	0.66280	D	0.42437226	0.62382	0.25989476	0.51745	0.42437226	0.62382	0.25989476	0.51744	-7.619	0.58443	D	.	.	0.137	0.29833	B	.	.	3.881568	0.56424	23.7	0.99925834036121386	0.99042	0.97868	0.77733	D	AEFDGBI	0.737212	0.68248	D	0.302187631033487	0.56259	3.790517	0.37817932006277	0.60221	4.207413	0.99999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	3.894000	0.55963	1.764000	0.28577	0.592000	0.32167	1.000000	0.71638	0.989000	0.31174	0.890000	0.42831	0.0:1.0:0.0:0.0	17.599	0.87918	698	0.58074	Strictosidine synthase, conserved region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1418.33	42	chr20	24970239	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.567;SOR=0.735	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1432,0,1313	18	0	1	0
chr20	31934714	31934714	G	A	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001367620:exon9:c.G536A:p.R179H,TTLL9:NM_001008409:exon12:c.G830A:p.R277H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00628937022702	8.1e-05	0.000199681	9.491e-05	0.0003	0.0003	0	0	7.806e-05	0	0	8.41e-05	13	154602	rs373712171	5.824e-05	5.814e-05	4.635e-05	7.025e-05	0.0007	4.817e-05	4.438e-05	0.0002	0.0001	0.0001	0.0001	0	2.519e-05	0	0.0007	4.408e-05	9.968e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.71e-05	0.0003	0.0002	0.0002	0	6.534e-05	0	0.0002	0	0	8.819e-05	0.0009	0.0008	0.101	0.30375	T	0.09	0.40267	T	0.005	0.12996	B	0.007	0.12992	B	0.000316	0.45977	D	0.197212	0.984026	0.81001	D	0.39	0.12200	N	3.42	0.05507	T	-1.23	0.31170	N	0.197	0.28616	-1.0109	0.26635	T	0.015	0.05849	T	10	0.05055839	0.04807	T	0.006289	0.16522	T	0.071	0.20720	.	.	0.0954503805726	0.09146	0.3162699842153649	0.31539	0.148437288655	0.16742	0.4463301301	0.31442	T	0.012213	0.10776	T	-0.365045	0.03853	T	-0.482703	0.24159	T	0.046801533550024	0.04929	T	0.831917	0.49916	T	0.060463883	0.12410	0.058562808	0.10843	0.060463883	0.12410	0.058562808	0.10842	-9.286	0.69519	D	.	.	0.080	0.07697	B	.;.;.	.;.;.	3.188426	0.43307	21.7	0.99778284412078411	0.86519	0.70933	0.34798	D	AEFDBI	0.209338	0.33533	N	-0.063456803186685	0.39003	2.293223	0.117201953522243	0.45428	2.80618	0.998082794560298	0.36406	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	2.459000	0.44680	4.529000	0.43718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1689:0.0:0.8311:0.0	8.242	0.30825	555	0.71762	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	423.33	33	chr20	31934714	.	G	A	423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.882;SOR=0.822	GT:AD:DP:GQ:PL	0/1:23,15:38:99:437,0,547	18	0	1	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	0.07895	4241.79	76	chr20	33083769	.	T	G	4241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.218;DP=1520;ExcessHet=0.3672;FS=5.007;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.021;SOR=0.486	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1243,0,1510	16	0	3	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:76,34:111:99:106,0,1431	2	0	17	0
chr20	34978049	34978049	G	T	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon5:c.G170T:p.R57L	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.127182679079	.	.	3.315e-05	0	0	0	0	3e-05	0	0.0001	2.59e-05	4	154602	rs762254041	6.157e-06	6.156e-06	1.361e-06	1.1e-05	6.956e-05	2.9e-06	2.1e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	1.799e-06	0	6.956e-05	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	0.003476	0.34901	N	0.000000	0.999928	0.51308	D	.	.	.	-2.29	0.87591	D	-5.2	0.83695	D	0.803	0.79889	0.438	0.89658	D	0.608	0.86085	D	10	0.8602622	0.85242	D	0.127183	0.80895	D	0.712	0.89741	.	.	0.901316477311	0.90033	0.7712525689520515	0.77075	0.727047607057	0.62546	0.573724508286	0.49204	T	0.500217	0.82090	D	0.15107	0.69367	D	0.181879	0.82105	D	0.971380829811096	0.69297	D	0.729627	0.34527	T	0.4197868	0.62077	0.36810663	0.62107	0.4197868	0.62078	0.36810663	0.62106	-3.237	0.12938	T	.	.	0.632	0.77759	P	.;.	.;.	5.176375	0.86775	29.0	0.99869722144686734	0.94726	0.99093	0.91122	D	AEFDBIJ	0.928829	0.91366	D	0.597308909685866	0.73006	5.896128	0.64455632643423	0.78208	6.829753	0.999999999939205	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.84	4.84	0.62125	8.890000	0.92121	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.124	0.89511	625	0.65529	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1809.33	33	chr20	34978049	.	G	T	1809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.961;SOR=0.749	GT:AD:DP:GQ:PL	0/1:55,65:120:99:1823,0,1412	18	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	198.74	34	chr20	37007453	.	C	G	198.74	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.541;DP=1201;ExcessHet=0.7564;FS=109.594;InbreedingCoeff=-0.1229;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.19;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,26:134:35:.:.:35,0,2278:.	15	0	4	0
chr20	37129076	37129076	G	A	exonic	MROH8	.	unknown	UNKNOWN	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00612546320582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.23e-07	6.84e-07	1.632e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.274e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.007	0.69154	D	0.993	0.65571	D	0.813	0.58748	P	0.079111	0.21004	N	0.453075	0.82145	0.34782	D	.	.	.	4.42	0.02177	T	-2.19	0.49352	N	0.478	0.51315	-0.4656	0.69878	T	0.269	0.64055	T	10	0.30181515	0.47722	T	0.006125	0.16023	T	0.135	0.36572	0.403	0.43408	0.239305524855	0.23518	.	.	.	.	0.529871582985	0.43017	T	.	.	.	-0.0367999	0.46423	T	-0.290637	0.45707	T	0.967573642730713	0.67954	D	0.793521	0.43550	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.780506	0.54354	23.5	0.99812180103639903	0.89620	0.86796	0.46155	D	AEFDBI	0.578334	0.57958	D	0.385081918130576	0.60613	4.25216	0.454661408249036	0.65017	4.770788	0.987510852579547	0.31283	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	4.409000	0.59524	11.271000	0.91406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	14.552	0.67663	408	0.82256	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1781.83	36	chr20	37129076	.	G	A	1781.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=725;ExcessHet=0.119;FS=3.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.538;SOR=0.746	GT:AD:DP:GQ:PL	0/1:22,28:50:99:775,0,590	17	0	2	0
chr20	44429627	44429627	A	G	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_000457:exon10:c.A1387G:p.I463V,HNF4A:NM_001030003:exon10:c.A1291G:p.I431V,HNF4A:NM_175914:exon10:c.A1321G:p.I441V,HNF4A:NM_178849:exon10:c.A1357G:p.I453V,HNF4A:NM_001258355:exon11:c.A1366G:p.I456V,HNF4A:NM_001287182:exon11:c.A1282G:p.I428V,HNF4A:NM_001287183:exon11:c.A1312G:p.I438V	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	0	1504	16	2	0	20	0.00660502	.	.	.	45009	Maturity_onset_diabetes_mellitus_in_young|not_specified|Monogenic_diabetes|Autosomal_dominant_polycystic_liver_disease|not_provided|Familial_hyperinsulinism|Maturity-onset_diabetes_of_the_young_type_1|Type_2_diabetes_mellitus|Fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924|MedGen:C3661900|MONDO:MONDO:0017182,MedGen:C3888018,Orphanet:276525|MONDO:MONDO:0007452,MedGen:C1852093,OMIM:125850,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0014458,MedGen:C4014962,OMIM:616026,Orphanet:93111	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.354	0.0400357000136	0.0003	.	0.0003	0	0.0007	0	0	0.0004	0.0011	0.0001	0.0002652	41	154602	rs147638455	0.0003	0.0003	0.0002	0.0003	0.0114	0.0002	0.0002	0.0092	0.0084	0.0003	0.0006	0.0007	0	0	0.0114	0.0002	0.0007	0.0003	0.0006	0.0006	0.0005	0.0008	0.0008	0.0005	0.0005	0.0003	0.0002	0	0.0582	0.0005	0.0009	0	0	0.0136	0.0003	0.0019	0.0008	0.018	0.53172	D	0.107	0.40747	T	0.225	0.30426	B	0.078	0.28627	B	0.760773	0.09625	N	0.891454	0.999999	0.58761	D	2.045	0.56016	M	-0.61	0.71779	T	-0.23	0.10656	N	0.54	0.76853	-0.6555	0.62473	T	0.317	0.68655	T	10	0.009395719	0.00212	T	0.040036	0.59150	D	0.354	0.67510	.	.	0.942077443982	0.94147	0.22013181744356555	0.21929	0.285152696463	0.30925	0.606351733208	0.53801	T	0.222491	0.70629	T	-0.0971621	0.36896	T	-0.00625752	0.69929	D	0.0827810381089443	0.10339	T	0.861714	0.55578	D	0.09375241	0.22027	0.10567461	0.25409	0.091336444	0.21399	0.1056317	0.25396	-3.058	0.14748	T	.	.	0.065	0.02765	B	.;.;.;.;.	.;.;.;.;.	2.503491	0.32318	19.01	0.99635814627792141	0.76326	0.94383	0.60991	D	AEFDBHCI	0.977155	0.99709	D	0.076654093246981	0.45376	2.795124	0.193130714253283	0.49470	3.149758	0.99999999998337	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	5.23	0.72570	7.000000	0.76045	7.973000	0.76046	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	1.0:0.0:0.0:0.0	15.264	0.73340	349	0.85513	.;.;.;.;.	.	.	.	.	.	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	0.016616	0.010101	0.013587	0.032164	0.050000	0.008621	0.015244	0.011364	0.05263	1302.83	33	chr20	44429627	.	A	G	1302.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.832;DP=743;ExcessHet=0.119;FS=2.826;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=2.11;SOR=0.922	GT:AD:DP:GQ:PL	0/1:46,33:79:99:647,0,1190	17	0	2	0
chr20	45877361	45877361	T	A	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.T803A:p.I268N	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.01146060106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.81	0.45366	P	0.717	0.54739	P	0.000638	0.42799	D	0.163853	0.932861	0.37036	D	1.245	0.31408	L	1.66	0.27486	T	-0.74	0.20791	N	0.717	0.71942	-1.0246	0.22214	T	0.080	0.31795	T	10	0.54962295	0.64181	D	0.011461	0.29107	T	0.146	0.38789	0.638	0.77470	0.311691414656	0.30774	0.6120008423466361	0.61132	1.10281248813	0.77779	0.478906869888	0.35907	T	0.037508	0.24500	T	0.037148	0.56671	T	-0.184416	0.56113	T	0.907526731491089	0.56184	D	0.787021	0.42574	T	0.37686306	0.59089	0.2724647	0.53157	0.37686306	0.59089	0.2724647	0.53156	-7.245	0.55804	T	.	.	0.389	0.58930	A	.	.	4.023541	0.59445	24.1	0.99269499427876484	0.57491	0.96195	0.67971	D	AEFGBI	0.252329	0.37204	N	0.248677291865897	0.53572	3.525625	0.296001431685843	0.55307	3.693744	0.99998083501104	0.51787	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.49	4.4	0.52402	2.604000	0.45938	4.075000	0.41695	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0:0.0699:0.0:0.9301	11.449	0.49385	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2415.33	171	chr20	45877361	.	T	A	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.028;DP=2353;ExcessHet=0;FS=4.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.88;SOR=0.718	GT:AD:DP:GQ:PL	0/1:88,78:166:99:2429,0,2733	18	0	1	0
chr20	53255326	53255326	C	A	exonic	TSHZ2	.	nonsynonymous SNV	TSHZ2:NM_001193421:exon2:c.C1859A:p.A620D,TSHZ2:NM_173485:exon2:c.C1868A:p.A623D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00900081492999	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902035318	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.17239	T	0.612	0.07642	T	0.112	0.26290	B	0.026	0.20792	B	0.001342	0.39310	N	0.255042	0.916953	0.36566	D	0.55	0.14455	N	1.16	0.38073	T	-0.04	0.07590	N	0.264	0.29889	-1.0196	0.23845	T	0.083	0.32642	T	10	0.098894715	0.17911	T	0.009001	0.23702	T	0.047	0.12962	0.117	0.02508	0.58934274002	0.58610	0.18688690149603837	0.18606	0.214031236135	0.23940	0.357421338558	0.19009	T	0.064758	0.32516	T	-0.251404	0.13925	T	-0.498271	0.22526	T	0.0990347554678602	0.12251	T	0.734027	0.34984	T	0.15823513	0.35610	0.23658915	0.48934	0.15823513	0.35610	0.23658915	0.48933	-4.072	0.24876	T	.	.	0.094	0.16494	B	.;.;.	.;.;.	2.501747	0.32295	19.00	0.80562070212013703	0.13262	0.96498	0.69439	D	AEFBI	0.386016	0.46654	N	-0.184395318153056	0.33783	1.920657	-0.0747359182708699	0.36438	2.120579	0.0018858842833961	0.08975	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	4.01	0.45821	1.181000	0.31626	3.906000	0.40380	0.589000	0.31548	0.571000	0.27513	0.999000	0.35428	0.238000	0.22948	0.0:0.8554:0.1446:0.0	14.831	0.69781	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2125.33	43	chr20	53255326	.	C	A	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.729;DP=850;ExcessHet=0;FS=9.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=-0.658;SOR=1.339	GT:AD:DP:GQ:PL	0/1:58,74:132:99:2139,0,1586	18	0	1	0
chr20	62310424	62310424	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon76:c.C10595T:p.T3532I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0862712514321	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260353715	6.891e-07	1.368e-06	0	1.386e-06	1.179e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.179e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.09896	T	0.526	0.10245	T	0.144	0.27697	B	0.022	0.19653	B	0.293401	0.14727	U	0.629846	0.99995	0.19072	N	1.32	0.33002	L	-1.23	0.78860	T	-2.6	0.55983	D	0.252	0.28498	-0.9055	0.47389	T	0.250	0.61958	T	10	0.12562633	0.23875	T	0.086271	0.74702	D	0.213	0.50496	0.492	0.57890	0.85781648375	0.85644	0.4537241325232917	0.45290	.	.	0.448074281216	0.31681	T	0.207334	0.56694	T	-0.00865934	0.50452	T	-0.250215	0.49795	T	0.121613993796768	0.14586	T	0.50475	0.15921	T	0.07153752	0.15846	0.097236216	0.23135	0.07153752	0.15845	0.097236216	0.23135	-5.432	0.41226	T	.	.	0.137	0.29806	B	.	.	1.616122	0.20649	14.85	0.66857069435240357	0.08182	0.14168	0.18259	N	AEFDBHCI	0.078089	0.15749	N	-0.780733435939456	0.13812	0.6832019	-0.76827986487931	0.15274	0.8024847	0.999981094072748	0.51787	0.67177	0.52595	0	0.588066	0.40923	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.15	3.09	0.34677	0.136000	0.15794	3.029000	0.36034	0.674000	0.70861	0.002000	0.15269	0.999000	0.35428	0.031000	0.13245	0.0843:0.1883:0.7273:0.0	8.576	0.32761	779	0.47767	Laminin G 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	.	.	.	.	.	.	.	.	0.05263	1662.83	37	chr20	62310424	.	G	A	1662.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.86;DP=909;ExcessHet=0.119;FS=0.709;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.58;SOR=0.619	GT:AD:DP:GQ:PL	0/1:27,23:50:99:661,0,712	17	0	2	0
chr20	63564654	63564654	G	C	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.C2461G:p.R821G,HELZ2:NM_001037335:exon9:c.C4168G:p.R1390G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0256137295217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.052e-07	6.84e-07	0	1.427e-06	3.078e-05	0	0	.	.	3.078e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.74150	D	0.996	0.77913	D	0.911	0.73362	D	0.025131	0.26142	N	0.403964	0.937636	0.26885	N	2.645	0.77386	M	1.08	0.39401	T	-5.62	0.86758	D	0.465	0.50146	-0.8971	0.48283	T	0.202	0.55905	T	10	0.74028164	0.74908	D	0.025614	0.48579	D	0.151	0.39764	0.735	0.86806	0.543952843248	0.54050	0.5526502314511533	0.55191	0.819905421968	0.67108	0.534562945366	0.43677	T	0.266773	0.63874	T	-0.0681965	0.41614	T	-0.335736	0.40826	T	0.899427533149719	0.55172	D	0.690631	0.30012	T	0.73660123	0.80098	0.66128784	0.80152	0.73660123	0.80100	0.66128784	0.80153	-7.327	0.57808	T	.	.	0.208	0.56599	B	.;.	.;.	2.929942	0.38926	20.8	0.99745460578897904	0.83852	0.39466	0.26219	N	AEFGBCI	0.160820	0.28680	N	0.183597347305235	0.50411	3.231388	0.0309064298193218	0.41158	2.46806	0.156819932240576	0.17530	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.84	2.71	0.31092	1.018000	0.29604	2.852000	0.35147	0.618000	0.50648	0.711000	0.28732	1.000000	0.68203	0.019000	0.11356	0.1064:0.0:0.4551:0.4384	5.813	0.17740	.	.	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3342.79	77	chr20	63564654	.	G	C	3342.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.431;DP=1086;ExcessHet=0.3672;FS=18.943;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.148;SOR=0.196	GT:AD:DP:GQ:PL	0/1:32,32:64:99:1052,0,761	16	0	3	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	1/1:0,262:262:99:8309,785,0	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,189:189:99:5763,567,0	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4454,464,0	3	5	11	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	0.07895	2912.79	92	chr21	33252732	.	C	G	2912.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.18;DP=972;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.479;SOR=0.709	GT:AD:DP:GQ:PL	0/1:57,38:95:99:979,0,1375	16	0	3	0
chr21	33553573	33553573	T	A	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.T4342A:p.S1448T,SON:NM_032195:exon3:c.T4342A:p.S1448T,SON:NM_138927:exon3:c.T4342A:p.S1448T	ZTTK syndrome, Autosomal dominant	431	1089	2	0	0	2	0.000917431	.	.	.	1905605	SON-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00797534513492	7.7e-05	0.000199681	0.0003	0	0	0	0	0.0001	0	0.0019	0.0002717	42	154602	rs370367458	0.0002	0.0002	9.665e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	6.708e-05	0	0	0	0.0014	5.755e-05	0.0002	0.0017	8.534e-05	8.53e-05	8.994e-05	8.054e-05	0.0010	4.953e-05	3.959e-05	0.0004	0.0003	0	0	0	0	0	0	0	0.0001	0	0.0010	0.091	0.31987	T	0.235	0.24767	T	0.189	0.32229	B	0.039	0.29395	B	0.157363	0.17771	N	0.477071	1	0.21747	N	2.215	0.62545	M	2.87	0.12575	T	-1.09	0.31981	N	0.179	0.23506	-1.0317	0.19905	T	0.029	0.12497	T	10	0.016022295	0.00337	T	0.007975	0.21136	T	0.018	0.03083	.	.	0.318133320967	0.31420	0.0887227125919282	0.08805	0.116482205721	0.13144	0.373067677021	0.21272	T	0.022074	0.17084	T	-0.545446	0.00311	T	-0.59165	0.13523	T	0.0366839126216061	0.03100	T	0.711829	0.37593	T	0.08380482	0.19368	0.05793578	0.10618	0.07328641	0.16365	0.0556359	0.09796	-5.141	0.39456	T	0.25324479109016906	0.34257	0.072	0.16231	B	.;.;.	.;.;.	1.917277	0.24347	16.36	0.90474133461909456	0.19731	0.59041	0.30806	D	AEFDBCI	0.072918	0.14568	N	-0.67852530344957	0.16635	0.8492511	-0.690550914057241	0.17197	0.9132918	0.999999269880024	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	1.7	0.23359	1.342000	0.33524	1.034000	0.23503	-0.133000	0.13014	0.358000	0.25825	0.569000	0.25561	0.027000	0.12703	0.0:0.1982:0.1903:0.6115	3.746	0.08073	870	0.31527	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2081.33	97	chr21	33553573	.	T	A	2081.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.739;DP=1736;ExcessHet=0;FS=2.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=0.533;SOR=0.966	GT:AD:DP:GQ:PL	0/1:46,72:118:99:2095,0,1388	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:99:0|1:41918930_C_G:99,0,1933:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:99:0|1:41918930_C_G:99,0,1933:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:99:0|1:41918930_C_G:99,0,1933:41918930	5	0	14	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	0/1:169,138:307:99:5133,0,6549	7	2	8	2
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,141:141:99:.:.:4238,423,0:.	2	12	5	0
chr22	19178310	19178310	C	G	exonic	SLC25A1	.	nonsynonymous SNV	SLC25A1:NM_001256534:exon1:c.G46C:p.G16R	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive	424	1056	41	1	0	43	0.0199536	.	.	.	378568	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0070	0	0.0075	0	0	0.0203	0.0085	0.0022	0.0010479	162	154602	rs558632091	0.0025	0.0024	0.0025	0.0026	0.0305	0.0025	0.0024	0.0266	0.0250	0.0010	0.0019	0.0255	5.875e-05	6.322e-05	0.0305	0.0020	0.0047	0.0034	0.0025	0.0025	0.0025	0.0025	0.0039	0.0023	0.0022	0.0026	0.0021	0.0006	0.0197	0.0023	0.0245	0.0004	9.446e-05	0.0411	0.0025	0.0085	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	1231.83	35	chr22	19178310	.	C	G	1231.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=642;ExcessHet=0.119;FS=1.862;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.464;SOR=0.929	GT:AD:DP:GQ:PL	0/1:15,22:37:99:588,0,318	17	0	2	0
chr22	19723962	19723962	G	A	exonic	GP1BB	.	nonsynonymous SNV	GP1BB:NM_000407:exon2:c.G119A:p.G40E	Bernard-Soulier syndrome, type B, Autosomal recessive;Giant platelet disorder, isolated, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	YES	742751	not_provided|Bernard_Soulier_syndrome	MedGen:C3661900|MONDO:MONDO:0009276,MeSH:D001606,MedGen:C0005129,OMIM:231200,Orphanet:274	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.555	0.989467175999	0.0004	0.000998403	0.0022	0.0039	0	0	0	0.0044	0	0.0013	0.0005951	92	154602	rs375285857	0.0016	0.0016	0.0016	0.0016	0.0023	0.0016	0.0015	0.0019	0.0018	0.0004	0.0023	0.0014	0	0.0009	0.0010	0.0017	0.0018	0.0010	0.0012	0.0012	0.0013	0.0010	0.0033	0.0010	0.0010	0.0026	0.0023	0.0003	0	0.0033	0.0020	0	0.0005	0.0068	0.0013	0.0024	0.0008	0.105	0.29823	T	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	0.314817	0.14371	U	0.454177	0.888607	0.27923	N	0.455	0.12820	N	-3.89	0.95984	D	0.17	0.05125	N	0.5	0.53269	0.222	0.86285	D	0.804	0.93369	D	10	0.054804713	0.05891	T	0.989467	0.99959	D	0.555	0.81659	.	.	0.998052704413	0.99803	0.5365707997938641	0.53582	1.96447962958	0.93503	.	.	.	0.257048	0.62803	T	-0.107971	0.35104	T	0.0662728	0.74661	D	0.0263467194827876	0.01452	T	0.878412	0.59357	D	0.19985515	0.41940	0.12158109	0.29335	0.31358474	0.54094	0.10072536	0.24092	-7.64	0.58589	D	0.101273139929451	0.07566	0.593	0.68586	P	.	.	3.710593	0.52968	23.3	0.97049320917516013	0.32146	0.89176	0.49484	D	AEFDBHCIJ	0.270702	0.38671	N	0.140460599603763	0.48361	3.049309	0.102157895741576	0.44660	2.743357	0.999999999875103	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	3.84	3.84	0.43422	0.521000	0.22601	4.125000	0.41997	0.586000	0.30580	0.044000	0.21163	1.000000	0.68203	0.643000	0.32503	0.0:0.1875:0.6195:0.193	7.041	0.24202	957	0.09725	Leucine-rich repeat N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002240	0.000000	0.001445	0.003731	0.000000	0.000000	0.003401	0.000000	0.02632	867.33	36	chr22	19723962	.	G	A	867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.876;SOR=0.776	GT:AD:DP:GQ:PL	0/1:39,33:72:99:881,0,968	18	0	1	0
chr22	20036847	20036847	G	A	exonic	TANGO2	.	nonsynonymous SNV	TANGO2:NM_001283116:exon2:c.G49A:p.A17T,TANGO2:NM_001283148:exon2:c.G49A:p.A17T,TANGO2:NM_001283154:exon2:c.G49A:p.A17T,TANGO2:NM_001283179:exon2:c.G49A:p.A17T,TANGO2:NM_001283186:exon2:c.G49A:p.A17T,TANGO2:NM_001283199:exon2:c.G49A:p.A17T,TANGO2:NM_001283248:exon2:c.G49A:p.A17T,TANGO2:NM_001322142:exon2:c.G49A:p.A17T,TANGO2:NM_001322166:exon2:c.G49A:p.A17T,TANGO2:NM_001322167:exon2:c.G49A:p.A17T,TANGO2:NM_001322169:exon2:c.G49A:p.A17T,TANGO2:NM_152906:exon2:c.G49A:p.A17T,TANGO2:NM_001283106:exon3:c.G49A:p.A17T,TANGO2:NM_001322163:exon3:c.G49A:p.A17T	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, Autosomal recessive	421	1100	1	0	0	1	0.000454339	.	.	.	2048917	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.0294850434489	0.0002	.	3.295e-05	0.0002	0	0	0	1.499e-05	0.0011	0	3.23e-05	5	154602	rs142149828	1.573e-05	1.573e-05	1.497e-05	1.65e-05	8.961e-05	1.048e-05	8.75e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0	1.619e-05	1.656e-05	1.159e-05	3.286e-05	3.284e-05	5.138e-05	1.346e-05	4.827e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.827e-05	0	0	0	0	0	0	4.41e-05	0	0	0.181	0.26965	T	0.559	0.09965	T	0.001	0.22573	B	0.002	0.18140	B	0.000002	0.62929	N	0.057777	0.99982	0.81001	D	2.15	0.60148	M	1.95	0.22474	T	-0.99	0.37759	N	0.455	0.50778	-1.0631	0.10997	T	0.049	0.20711	T	10	0.21325254	0.37810	T	0.029485	0.51987	D	0.128	0.35103	.	.	0.115124310173	0.11017	.	.	0.453934619371	0.45076	0.656430125237	0.60899	T	0.017376	0.20428	T	-0.278255	0.10853	T	-0.400802	0.33291	T	0.10509101144335	0.12907	T	0.792521	0.49576	T	0.16360566	0.36513	0.15990649	0.37271	0.16360566	0.36513	0.15990649	0.37270	-9.566	0.76899	D	0.3515679160744818	0.44872	0.114	0.49470	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.056176	0.60165	24.2	0.95298210946167328	0.26614	0.87079	0.46512	D	AEFDBCI	0.614321	0.60168	D	-0.343697637985094	0.27504	1.509572	-0.310442015852798	0.27759	1.542716	0.99999958193474	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.14	3.12	0.34986	5.329000	0.65670	9.600000	0.81064	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.099:0.0:0.901:0.0	10.610	0.44603	739	0.53257	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2642.33	40	chr22	20036847	.	G	A	2642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=871;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=0.613;SOR=0.964	GT:AD:DP:GQ:PL	0/1:69,95:164:99:2656,0,1545	18	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:12,7:19:99:226,0,322	5	0	13	1
chr22	21445760	21445760	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G865A:p.V289I	.	398	1095	29	0	0	29	0.0130689	.	.	.	3893848	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0045	0.000798722	0.0040	0.0007	0.0021	0	0.0009	0.0062	0.0108	0.0015	0.0033376	516	154602	rs138601828	0.0039	0.0039	0.0039	0.0039	0.0213	0.0038	0.0038	0.0183	0.0171	0.0013	0.0027	0.0326	0	0.0006	0.0213	0.0036	0.0066	0.0012	0.0030	0.0030	0.0032	0.0028	0.0036	0.0028	0.0027	0.0032	0.0031	0.0010	0	0.0027	0.0303	0	0.0005	0.0204	0.0036	0.0061	0.0010	0.064	0.36509	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	0.312968	0.14401	N	0.699280	1	0.08975	N	0.255	0.09829	N	2.89	0.10196	T	-0.35	0.12847	N	0.064	0.03841	-1.0074	0.27727	T	0.015	0.06282	T	10	0.0022868216	0.00034	T	.	.	.	0.032	0.07718	.	.	0.117191471859	0.11215	0.04514653248244131	0.04458	0.448017709294	0.44648	0.510300815105	0.40265	T	0.022129	0.17114	T	-0.651761	0.00071	T	-0.709131	0.05339	T	0.00099573304214747	0.00010	T	0.463154	0.13467	T	0.04477088	0.07216	0.042352278	0.05024	0.04477088	0.07216	0.042352278	0.05024	-4.759	0.34109	T	.	.	0.106	0.21877	B	.;.;.	.;.;.	0.335655	0.07097	3.667	0.89703002674399623	0.19027	0.10933	0.16293	N	AEFBI	0.047228	0.07929	N	-0.959511898439442	0.09480	0.4488646	-1.00241423907496	0.09732	0.4858989	0.0640159839261247	0.15315	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.74	-1.96	0.07113	1.176000	0.31566	0.293000	0.16894	-0.134000	0.12905	0.002000	0.15269	0.000000	0.08366	0.223000	0.22544	0.4214:0.0:0.4368:0.1418	4.885	0.13054	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.030303	0.016304	0.020468	0.000000	0.008621	0.009146	0.011364	0.02632	934.33	36	chr22	21445760	.	G	A	934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=927;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-1.305;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,39:77:99:0|1:21445753_T_C:948,0,814:21445753	18	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:99,24:123:99:709,0,4045	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:93,8:101:1:1,0,2454	9	0	10	0
chr22	23573483	23573483	G	A	exonic	IGLL1	.	nonsynonymous SNV	IGLL1:NM_001369906:exon3:c.C428T:p.P143L,IGLL1:NM_020070:exon3:c.C425T:p.P142L	Agammaglobulinemia 2, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	YES	29864	IGLL1-related_condition|Agammaglobulinemia_2,_autosomal_recessive|not_provided|not_specified	.|MONDO:MONDO:0013287,MedGen:C3150750,OMIM:613500|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.015329175499	.	0.000399361	0.0002	0.0002	8.637e-05	0.0003	0	0.0003	0	0.0001	7.68e-05	2	26028	rs1064422	0.0009	0.0014	0.0009	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0002	0.0030	0.0001	9.362e-05	0	0.0010	0.0011	0.0002	0.0010	0.0011	0.0010	0.0010	0.0018	0.0009	0.0008	0.0015	0.0014	0.0002	0	0.0002	0.0032	0.0006	0.0003	0	0.0018	0.0009	0.0002	0.014	0.53900	D	0.062	0.45318	T	0.999	0.77913	D	0.991	0.79672	D	0.005925	0.32398	N	0.218379	1.000	0.50806	A	3.605	0.93784	H	3.97	0.03326	T	-8.2	0.97024	D	0.489	0.52297	-0.8815	0.49642	T	0.069	0.28346	T	9	0.105534405	0.19510	T	0.015329	0.35999	T	0.235	0.53788	.	.	0.425148423609	0.42132	0.7267377689045801	0.72617	0.347992445968	0.36675	0.485858261585	0.36866	T	0.412838	0.76688	T	-0.180469	0.23666	T	-0.173064	0.57162	T	0.440202504396439	0.30437	T	0.80002	0.44558	T	0.5680854	0.70955	0.3837885	0.63334	0.29379377	0.52343	0.27212012	0.53118	-10.735	0.78185	D	0.7483821759300645	0.83048	0.462	0.62806	A	.;.	.;.	3.305699	0.45399	22.1	0.95032107470282234	0.26029	0.44647	0.27364	N	AEFGI	0.130407	0.24895	N	-0.102717985226094	0.37273	2.166245	-0.414189093775868	0.24580	1.346819	1.42118404509596E-4	0.05573	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.45	1.36	0.21139	5.744000	0.68300	3.570000	0.39120	0.370000	0.20262	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.1428:0.0:0.8572:0.0	7.842	0.28563	880	0.29376	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	79.33	39	chr22	23573483	.	G	A	79.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=840;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.56;MQRankSum=-12.09;QD=0.49;ReadPosRankSum=-2.563;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,13:161:93:0|1:23573483_G_A:93,0,6050:23573483	18	0	1	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	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	.	.	.	.	.	.	.	.	0.07895	4896.79	155	chr22	23765457	.	G	A	4896.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.31;DP=945;ExcessHet=0.3672;FS=3.316;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.788;SOR=0.857	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1228,0,1454	16	0	3	0
chr22	24171996	24171996	G	C	splicing	CABIN1	NM_012295:exon34:c.6040+1G>C;NM_001201429:exon33:c.5890+1G>C;NM_001199281:exon34:c.6040+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253091911	6.863e-07	6.84e-07	0	1.379e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332984	0.85363	D	0.240532	0.85170	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.417650	0.90655	31	0.99509957545140626	0.68558	0.97905	0.78016	D	AEFDBI	.	.	.	1.04699283845865	0.97019	15.46896	0.869577644794053	0.94107	12.50911	0.999631331536484	0.41205	0.256867	0.04430	0	0.271743	0.05004	0	0.231514	0.04749	0	0.221052	0.04502	0	0.966747	0.69479	4.9	4.9	0.63643	3.245000	0.51106	11.660000	0.93977	0.674000	0.70861	0.976000	0.34826	1.000000	0.68203	0.758000	0.36073	0.0:0.0:1.0:0.0	14.359	0.66324	732	0.54084	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	851.33	40	chr22	24171996	.	G	C	851.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.671;DP=669;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.502;SOR=1.179	GT:AD:DP:GQ:PL	0/1:20,28:48:99:865,0,525	18	0	1	0
chr22	24586332	24586332	C	T	exonic	LRRC75B	.	nonsynonymous SNV	LRRC75B:NM_207644:exon4:c.G502A:p.V168M	.	423	1097	2	0	0	2	0.000910747	.	.	.	2208439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.00539793461772	.	.	4.976e-05	0	0.0003	0.0001	0	0	0	0.0001	5.82e-05	9	154602	rs774605663	6.568e-05	6.567e-05	5.038e-05	8.114e-05	0.0003	5.496e-05	5.108e-05	0.0001	9.193e-05	5.974e-05	0.0002	3.826e-05	7.557e-05	1.882e-05	0.0003	6.025e-05	8.279e-05	5.797e-05	5.251e-05	5.249e-05	3.853e-05	6.711e-05	0.0004	2.555e-05	1.828e-05	7.287e-05	3.028e-05	2.404e-05	0	0	0	0.0002	0	0	4.41e-05	0.0005	0.0004	0.205	0.20002	T	0.319	0.19188	T	0.025	0.19245	B	0.01	0.14941	B	0.000171	0.48594	U	0.081533	0.884672	0.58761	N	1.065	0.27018	L	1.52	0.30669	T	-0.26	0.11185	N	0.107	0.09207	-1.0675	0.09971	T	0.040	0.17404	T	10	0.03428912	0.01631	T	0.005398	0.13862	T	0.032	0.07718	.	.	0.190952846119	0.18690	0.20026142656404455	0.19943	0.160173571639	0.18067	0.338604211807	0.16228	T	0.008747	0.08010	T	-0.499133	0.00578	T	-0.653025	0.08744	T	0.0159158175363551	0.00376	T	0.583442	0.21195	T	0.024791794	0.01347	0.033072148	0.02143	0.024791794	0.01347	0.033072148	0.02143	-6.273	0.48508	T	.	.	0.083	0.09143	B	.	.	-0.239803	0.02895	0.415	0.7766580817641916	0.11971	0.06861	0.12886	N	AEFDGBI	0.086629	0.17565	N	-1.19945721073268	0.05009	0.2273587	-1.25494567562442	0.05058	0.240122	0.997454989632813	0.35635	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.683762	0.67416	0	.	.	3.48	-0.0272	0.13254	-0.097000	0.11010	-0.474000	0.08960	-1.696000	0.00764	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6593:0.155:0.1857	6.07	0.19107	537	0.73184	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1635.33	33	chr22	24586332	.	C	T	1635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=771;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.006;SOR=0.604	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1649,0,1456	18	0	1	0
chr22	31127015	31127015	G	A	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284287:exon4:c.G284A:p.R95H,INPP5J:NM_001002837:exon5:c.G485A:p.R162H,INPP5J:NM_001284285:exon5:c.G1589A:p.R530H,INPP5J:NM_001284286:exon6:c.G1388A:p.R463H,INPP5J:NM_001284288:exon6:c.G488A:p.R163H,INPP5J:NM_001284289:exon7:c.G488A:p.R163H	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909	0.330805340665	.	.	3.163e-05	0	0	0	0	5.722e-05	0	0	1.29e-05	2	154602	rs760092310	1.103e-05	2.121e-05	1.096e-05	1.109e-05	2.365e-05	6.53e-06	5.28e-06	5.78e-06	4.57e-06	0	2.308e-05	0	0	0	0	1.084e-05	1.666e-05	2.365e-05	1.314e-05	1.313e-05	0	2.69e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.004	0.68238	D	0.018	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.28	0.90206	M	-3.68	0.95282	D	-3.86	0.73267	D	0.813	0.85238	1.068	0.98528	D	0.925	0.97530	D	10	0.8836218	0.87681	D	0.330805	0.91745	D	0.909	0.97549	0.588	0.71623	0.940745283987	0.94013	0.7685049308428289	0.76799	0.771138556595	0.64768	0.844506025314	0.88782	D	0.274241	0.91716	T	0.464568	0.93121	D	0.429543	0.93035	D	0.988805174827576	0.79093	D	0.976052	0.91638	D	0.5090818	0.67626	0.4711528	0.69336	0.5090818	0.67627	0.4711528	0.69336	-12.085	0.88740	D	.	.	0.684	0.78339	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.762939	0.93440	33	0.9995469974470963	0.99969	0.99488	0.96641	D	AEFDGBI	0.931682	0.92087	D	0.916508432491474	0.92543	11.48482	0.83206453728679	0.91926	11.14202	0.999999999999901	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.26897	0.05253	2	0.567892	0.33627	0	.	.	4.46	4.46	0.53567	9.452000	0.96775	11.591000	0.93406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.028	0.89199	624	0.65661	Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	288.33	40	chr22	31127015	.	G	A	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.919;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.15;ReadPosRankSum=0.093;SOR=0.671	GT:AD:DP:GQ:PL	0/1:41,15:56:99:302,0,1026	18	0	1	0
chr22	37715830	37715830	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon6:c.C524T:p.P175L	Deafness, autosomal recessive 28, Autosomal recessive	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0049426861442	.	.	8.453e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs748115979	3.078e-05	3.078e-05	2.859e-05	3.3e-05	0.0002	2.347e-05	2.095e-05	2.37e-05	2.103e-05	2.987e-05	4.472e-05	0	5.038e-05	0	0.0002	3.237e-05	3.312e-05	1.159e-05	6.574e-06	6.567e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.996342	0.23043	N	1.04	0.26193	L	1.94	0.22678	T	-2.99	0.62151	D	0.431	0.47022	-1.0844	0.06517	T	0.033	0.14029	T	9	0.07089409	0.10375	T	0.004943	0.12442	T	0.066	0.19193	.	.	0.295623431141	0.29171	0.08888650527583479	0.08821	0.11712636649	0.13201	0.399276912212	0.24967	T	0.245191	0.61445	T	-0.339648	0.05412	T	-0.54351	0.17954	T	0.0673072562833666	0.08267	T	0.442656	0.12286	T	0.07654106	0.17318	0.13055143	0.31368	0.07654106	0.17317	0.13055143	0.31367	-3.219	0.12714	T	.	.	0.189	0.40618	B	.;.	.;.	1.244609	0.16405	12.52	0.91844299996967615	0.21156	0.12915	0.17555	N	AEFBHCI	0.047261	0.07940	N	-0.991075304434396	0.08793	0.4136739	-0.915474524023176	0.11728	0.5993244	0.0730757324220181	0.15622	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.12	3.04	0.34171	0.393000	0.20543	1.335000	0.25696	-1.914000	0.00512	0.258000	0.24929	0.755000	0.26580	0.001000	0.02609	0.0:0.7431:0.1677:0.0892	7.346	0.25835	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	653.33	33	chr22	37715830	.	C	T	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=690;ExcessHet=0;FS=1.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=0.061;SOR=0.465	GT:AD:DP:GQ:PL	0/1:44,30:74:99:667,0,1120	18	0	1	0
chr22	39364270	39364270	A	G	exonic	SYNGR1	.	nonsynonymous SNV	SYNGR1:NM_145738:exon1:c.A76G:p.S26G	.	417	1091	13	1	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0043	0.00798722	0.0042	0.0096	0.0092	0	0	0.0042	0.0099	0.0003	0.0041785	646	154602	rs77424082	0.0034	0.0034	0.0034	0.0033	0.0240	0.0033	0.0033	0.0207	0.0195	0.0093	0.0100	0.0266	0	7.491e-05	0.0240	0.0025	0.0083	0.0003	0.0061	0.0061	0.0065	0.0057	0.0142	0.0058	0.0057	0.0127	0.0121	0.0089	0	0.0142	0.0242	0	0.0005	0.0442	0.0030	0.0175	0.0002	0.079	0.33753	T	0.025	0.56192	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.46	0.35792	N	0.117	0.10626	-1.0215	0.23227	T	0.043	0.18576	T	7	0.0036369264	0.00066	T	.	.	.	0.027	0.05988	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.702086	0.00035	T	-0.773313	0.02661	T	0.00149790500072616	0.00015	T	0.245875	0.03603	T	.	.	.	.	.	.	.	.	-3.098	0.11273	T	.	.	0.079	0.07460	B	.	.	0.973775	0.13511	10.03	0.74917177669923385	0.10876	0.00080	0.00545	N	AEFDGBHCI	0.011557	0.00105	N	-1.26110416149846	0.04155	0.1869824	-1.39628340502482	0.03291	0.1532431	0.999999853745799	0.74766	0.608966	0.35542	0	0.573888	0.26702	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	2.03	-2.36	0.06282	0.258000	0.18156	-0.569000	0.08436	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.182:0.0:0.378:0.44	2.541	0.04438	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	0.037764	0.146465	0.046196	0.011696	0.000000	0.017241	0.006098	0.000000	0.02632	1450.33	35	chr22	39364270	.	A	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.148;DP=737;ExcessHet=0;FS=4.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.553;SOR=1.159	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1464,0,1249	18	0	1	0
chr22	42128849	42128849	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.C448A:p.R150S,CYP2D6:NM_000106:exon4:c.C601A:p.R201S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0191161715555	.	.	0.0003	0.0002	0.0001	0	0	6.986e-05	0.0016	0.0016	.	.	.	rs774982812	6.738e-05	0.0001	2.051e-05	0.0001	0.0008	5.657e-05	5.198e-05	0.0006	0.0006	0.0001	0	0	0	0	0.0002	2.166e-05	6.661e-05	0.0008	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.249	0.17183	T	0.535	0.12107	T	.	.	.	.	.	.	0.643648	0.05882	N	1.221350	1	0.08975	N	1.89	0.50145	L	-0.29	0.67712	T	-1.43	0.35792	N	0.203	0.22486	-0.9473	0.41431	T	0.215	0.57626	T	10	0.06989348	0.10092	T	0.019116	0.41395	T	0.246	0.55340	.	.	0.324161360171	0.32030	0.5173619556389261	0.51659	0.135504829808	0.15275	0.215786740184	0.01081	T	0.004115	0.19053	T	-0.0845906	0.38967	T	-0.359285	0.38136	T	0.0521561838686466	0.05873	T	0.205379	0.18668	T	0.39107287	0.60108	0.121135496	0.29231	0.39107287	0.60109	0.121135496	0.29230	-7.294	0.58478	T	.	.	0.210	0.46619	B	.;.;.;.;.	.;.;.;.;.	0.412748	0.07838	4.531	0.72402539884290718	0.09961	0.02339	0.06686	N	AEFDBI	0.317622	0.42156	N	-1.25766900973309	0.04199	0.1890812	-1.4018528751687	0.03233	0.1504276	3.7690518559995E-4	0.06745	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.37	-3.18	0.04867	-1.946000	0.01626	-1.192000	0.06066	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3509:0.1555:0.2971:0.1966	0.475	0.00501	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	689.72	35	chr22	42128849	.	G	T	689.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.639;DP=2308;ExcessHet=0;FS=5.65;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=53.49;MQRankSum=-6.273;QD=2.74;ReadPosRankSum=-1.38;SOR=1.107	GT:AD:DP:GQ:PL	0/1:201,51:252:99:703,0,5013	17	0	1	1
chr22	42142544	42142544	G	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	.	0.0011	0.0010	0.0014	0	0	0.0005	0.0076	0.0023	.	.	.	rs768412534	0.0001	0.0002	7.609e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0.0005	4.754e-05	0	0	0	0.0007	6.006e-05	0.0003	0.0011	0.0002	0.0002	5.141e-05	0.0003	0.0023	0.0001	9.238e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0.0034	5.882e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.631300	0.05814	N	1.231090	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.13198	-1.0162	0.24948	T	0.046	0.19680	T	8	0.014012307	0.00295	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.028276	0.20519	T	-0.746996	0.00019	T	-0.886317	0.00604	T	0.016337875276804	0.00403	T	0.380262	0.09172	T	0.10906365	0.25786	0.05225052	0.08571	0.10906365	0.25786	0.05225052	0.08571	-7.273	0.56003	T	.	.	0.194	0.43653	B	.;.	.;.	6.528878	0.95355	34	0.94920503821113722	0.25793	0.00919	0.03578	N	AEFDGBI	0.030867	0.03188	N	-0.787275739174706	0.13640	0.6734604	-0.988665404427139	0.10039	0.5031472	0.136244163243197	0.17187	0.090766	0.02384	0	0.130567	0.03505	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	3.82	-1.84	0.07387	-1.551000	0.02282	-6.398000	0.01409	0.553000	0.28181	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2584:0.1562:0.2803:0.3051	0.214	0.00149	106	0.95650	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	645.33	35	chr22	42142544	.	G	T	645.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.75;DP=1812;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.68;MQRankSum=-7.667;QD=4.89;ReadPosRankSum=-0.599;SOR=0.979	GT:AD:DP:GQ:PL	0/1:104,28:132:99:659,0,2545	18	0	1	0
chr22	42514716	42514716	G	A	exonic	RRP7A	.	nonsynonymous SNV	RRP7A:NM_015703:exon5:c.C524T:p.T175M	.	421	1022	79	0	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0059	.	0.0104	0.0011	0.0031	0.0003	0.0032	0.0108	0.0188	0.0260	0.0004204	65	154602	rs141505384	0.0064	0.0072	0.0058	0.0071	0.0397	0.0063	0.0063	0.0355	0.0338	0.0014	0.0045	0.0219	0.0001	0.0027	0.0397	0.0053	0.0077	0.0209	0.0051	0.0054	0.0050	0.0051	0.0171	0.0048	0.0046	0.0141	0.0130	0.0011	0.0011	0.0061	0.0185	0	0.0019	0.0204	0.0065	0.0076	0.0171	0.032	0.44694	D	0.091	0.40110	T	0.999	0.77913	D	0.912	0.64797	D	0.681722	0.10252	N	0.859961	0.999988	0.18198	N	1.625	0.41611	L	1.84	0.24656	T	-2.21	0.49684	N	0.287	0.32481	-1.0487	0.14761	T	0.102	0.37743	T	10	0.010819316	0.00239	T	.	.	.	0.108	0.30607	.	.	0.483153943251	0.47947	0.24857725245994056	0.24771	2.62205694876	0.98273	0.403813183308	0.25599	T	0.136585	0.46904	T	-0.522364	0.00426	T	-0.507521	0.21570	T	0.0123048667362909	0.00199	T	0.834017	0.50309	T	0.089632064	0.20948	0.12695254	0.30567	0.089632064	0.20948	0.12695254	0.30567	-5.864	0.45127	T	.	.	0.090	0.12465	B	.	.	4.139315	0.62006	24.4	0.99785223286555202	0.87131	0.46820	0.27845	N	AEFDGBCI	0.164871	0.29130	N	0.275779643591207	0.54923	3.656973	0.135222655987922	0.46362	2.88357	0.192584466979158	0.18018	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.8	2.68	0.30839	3.366000	0.52068	4.582000	0.43923	0.479000	0.22080	0.920000	0.31959	0.979000	0.30280	0.250000	0.23263	0.0:0.0:0.6848:0.3152	11.166	0.47770	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027304	0.012500	0.027248	0.034483	0.000000	0.052632	0.031469	0.032787	0.07895	10652.8	34	chr22	42514716	.	G	A	10652.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.72;DP=2512;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=52.01;MQRankSum=-2.908;QD=9.12;ReadPosRankSum=0.635;SOR=0.72	GT:AD:DP:GQ:PL	0/1:223,86:309:99:1985,0,5712	16	0	3	0
chr22	50178304	50178304	C	T	exonic	PANX2	.	nonsynonymous SNV	PANX2:NM_001160300:exon2:c.C1592T:p.A531V,PANX2:NM_052839:exon2:c.C1592T:p.A531V	.	426	1095	1	0	0	1	0.000456413	.	.	.	2754205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0164621433635	.	.	9.798e-05	0	0	0	0	0.0003	0	0	1.29e-05	2	154602	rs753087048	1.096e-05	1.573e-05	1.01e-05	1.183e-05	0.0005	6.58e-06	5.22e-06	8.048e-05	3.373e-05	0	0	0	0	0	0.0005	6.527e-06	0.0001	0	2.63e-05	2.628e-05	2.571e-05	2.693e-05	5.883e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.883e-05	0	0	0.157	0.23997	T	0.113	0.36901	T	0.001	0.07471	B	0.002	0.06944	B	0.573551	0.11214	N	0.795808	1	0.08975	N	0.345	0.11182	N	1.91	0.23283	T	0.14	0.06488	N	0.051	0.09066	-0.9910	0.32347	T	0.033	0.13986	T	10	0.029905021	0.01117	T	0.016462	0.37727	T	0.050	0.13987	0.194	0.10571	0.0846915920261	0.08053	0.1298147771076823	0.12906	1.27448055317	0.82373	0.591816961765	0.51750	T	0.008707	0.07977	T	-0.32089	0.06825	T	-0.698713	0.05896	T	0.016313176547365	0.00402	T	0.586841	0.21439	T	0.03818043	0.05038	0.055003416	0.09568	0.03818043	0.05038	0.055003416	0.09568	-5.064	0.37526	T	.	.	0.094	0.14385	B	.;.	.;.	1.276785	0.16762	12.75	0.9128207937220939	0.20542	0.05320	0.11171	N	AEFDBI	0.044408	0.07140	N	-0.913905705363857	0.10516	0.5029035	-0.84832734644147	0.13327	0.6907879	0.99759936730767	0.35797	0.581397	0.33459	0	0.78372	0.99691	0	0.651303	0.49530	0	0.604944	0.38103	0	.	.	4.19	2.89	0.32713	0.748000	0.25970	0.317000	0.17144	-1.115000	0.01481	0.003000	0.16062	0.000000	0.08366	0.896000	0.43308	0.0:0.7759:0.0:0.2241	8.007	0.29495	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	163.33	34	chr22	50178304	.	C	T	163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=602;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=1.06;SOR=1.609	GT:AD:DP:GQ:PL	0/1:12,7:19:99:177,0,266	18	0	1	0
chrX	9895695	9895695	G	A	exonic	SHROOM2	.	nonsynonymous SNV	SHROOM2:NM_001649:exon4:c.G1787A:p.R596H	.	.	.	.	.	.	.	.	.	.	.	4067374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00398321066303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227898522	9.352e-07	2.732e-06	1.386e-06	0	1.204e-06	0	0	.	.	0	0	0	0	0	0	1.204e-06	0	0	1.77e-05	1.739e-05	2.568e-05	0	6.409e-05	2.94e-06	1.1e-06	1.061e-05	3.97e-06	6.409e-05	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.156	0.31833	T	0.003	0.11197	B	0.0	0.01387	B	0.029562	0.01705	N	1.961470	1	0.08975	N	1.59	0.40313	L	2.48	0.14657	T	-0.91	0.24460	N	0.018	0.00252	-0.9972	0.30701	T	0.022	0.09193	T	10	0.049264878	0.04492	T	0.003983	0.09431	T	0.009	0.00846	0.207	0.12356	0.28722502521	0.28325	0.059004696280798886	0.05841	0.0906683578425	0.10232	0.27709710598	0.07091	T	0.033711	0.23026	T	-0.598416	0.00149	T	-1.09736	0.00029	T	0.0851996541023254	0.10639	T	0.40306	0.10319	T	0.031008845	0.02865	0.044879157	0.05914	0.031008845	0.02864	0.044879157	0.05914	-4.511	0.31032	T	.	.	0.068	0.02639	B	.	.	0.203181	0.05879	2.317	0.92942979200975917	0.22512	0.09931	0.15573	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999718770160246	0.42101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63	-1.9	0.07248	0.273000	0.18425	-1.286000	0.05813	-0.775000	0.03392	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5063:0.0:0.3799:0.1138	6.930	0.23613	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	1821.81	40	chrX	9895695	.	G	A	1821.81	.	AC=2;AF=0.053;AN=38;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.36;SOR=0.831	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1849,180,0	18	1	0	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,13:69:99:0|1:10469688_G_A:111,0,2068:10469688	12	0	7	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,13:69:99:0|1:10469688_G_A:111,0,2068:10469688	8	0	10	1
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	586.59	37	chrX	10469693	.	T	C	586.59	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.473;DP=1398;ExcessHet=1.3;FS=110.107;InbreedingCoeff=-0.1633;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.41;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,13:68:99:0|1:10469688_G_A:114,0,2030:10469688	13	0	5	1
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E	Retinitis pigmentosa 2, X-linked	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	85.14	33	chrX	46860080	.	C	G	85.14	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.058;DP=678;ExcessHet=0.3672;FS=247.053;InbreedingCoeff=-0.0851;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1;SOR=8.121	GT:AD:DP:GQ:PL	0/1:16,4:22:16:16,0,400	16	0	3	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	.	.	.	.	.	.	.	.	0.1	40.52	107	chrX	49039321	.	G	A	40.52	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-1.307;DP=1069;ExcessHet=0.3672;FS=260.807;InbreedingCoeff=-0.1459;MLEAC=2;MLEAF=0.067;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=-0.514;SOR=8.349	GT:AD:DP:GQ:PL	0/1:29,12:41:42:42,0,432	12	0	3	4
chrX	49175792	49175792	G	A	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon9:c.C1525T:p.P509S,PRICKLE3:NM_006150:exon9:c.C1729T:p.P577S	.	427	1094	1	0	0	1	0.00045683	.	.	.	3904380	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0186829554829	.	.	0.0001	0	0.0001	0	0	0.0001	0	9.878e-05	8.41e-05	13	154602	rs201514664	7.65e-05	7.648e-05	5.989e-05	0.0001	0.0007	6.314e-05	5.812e-05	0.0002	0.0001	0	0	0	0	9.871e-05	0.0007	7.008e-05	0.0001	0.0002	7.104e-05	6.957e-05	1.285e-05	0.0002	0.0004	3.449e-05	2.501e-05	6.145e-05	4.296e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	.	.	.	0.892	0.11899	T	0.0	0.02946	B	0.001	0.04355	B	0.034276	0.24791	N	0.201527	1	0.08975	N	1.085	0.27262	L	-0.25	0.67011	T	.	.	.	0.038	0.01203	-0.9752	0.36082	T	0.119	0.41669	T	10	0.04610747	0.03760	T	0.018683	0.40822	T	.	.	0.202	0.11659	0.329020015101	0.32502	0.2165025990211053	0.21566	.	.	0.437148272991	0.30187	T	0.017948	0.14556	T	-0.439572	0.01301	T	-0.609512	0.12024	T	0.0186821399380364	0.00581	T	0.577942	0.20808	T	0.05556857	0.10817	0.11005346	0.26532	0.05556857	0.10817	0.11005346	0.26531	-2.692	0.07236	T	.	.	0.075	0.08368	B	.;.	.;.	0.763502	0.11331	7.953	0.95851359282791804	0.27992	0.45481	0.27548	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999997699	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	2.53	0.29594	1.224000	0.32142	1.463000	0.26696	0.669000	0.69127	0.167000	0.23894	1.000000	0.68203	0.305000	0.24618	0.2478:0.0:0.7522:0.0	6.841	0.23147	32	0.98147	.;.	.	.	.	.	.	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	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.005263	0.05263	2403.81	41	chrX	49175792	.	G	A	2403.81	.	AC=2;AF=0.053;AN=38;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.39;SOR=1.073	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2431,216,0	18	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	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	1/1:66,594:660:28:18173,28,0	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:531,107:638:99:1461,0,15275	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:452,99:551:99:.:.:1820,0,13910:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:385,76:461:99:.:.:1443,0,12721:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:47,369:416:99:12312,0,230	0	0	19	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,45:292:99:0|1:55146247_G_C:1071,0,10113:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,41:277:99:0|1:55146247_G_C:991,0,9754:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:85,185:270:99:5656,0,2827	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,40:271:99:0|1:55146247_G_C:984,0,9559:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:43,172:215:99:5792,0,1076	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:157,25:182:99:301,0,5112	8	0	9	2
chrX	64190538	64190538	C	T	exonic	AMER1	.	nonsynonymous SNV	AMER1:NM_152424:exon2:c.G2749A:p.E917K	Osteopathia striata with cranial sclerosis, X-linked dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0105392893199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.553e-06	4.553e-06	4.084e-06	5.503e-06	5.938e-06	1.33e-06	9.7e-07	1.74e-06	1.26e-06	0	0	0	0	0	0	5.938e-06	0	0	1.783e-05	1.741e-05	2.57e-05	0	6.479e-05	2.96e-06	1.11e-06	1.073e-05	4.01e-06	6.479e-05	0	0	0	0	0	0	0	0	0	0.35	0.12305	T	0.448	0.13030	T	0.079	0.24468	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	0	0.06538	N	1.01	0.41058	T	-0.25	0.11008	N	0.11	0.09631	-1.0655	0.10432	T	0.059	0.24871	T	8	0.067577094	0.09436	T	0.010539	0.27195	T	0.084	0.24469	0.12	0.02719	0.2338531098	0.23012	0.061479874473164976	0.06087	0.0393796365201	0.04198	0.40162807703	0.25295	T	0.13486	0.46634	T	-0.24968	0.14138	T	-0.596425	0.13113	T	0.115055332052577	0.13939	T	0.70423	0.31438	T	0.07951948	0.18172	0.13200729	0.31687	0.07951948	0.18171	0.13200729	0.31686	-4.759	0.34109	T	.	.	0.162	0.35849	B	.;.	.;.	1.691703	0.21554	15.25	0.9719177267870186	0.32771	0.62412	0.31774	D	AEFBI	.	.	.	.	.	.	.	.	.	0.9997527814991	0.42595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79	4.79	0.60909	1.447000	0.34712	4.814000	0.45064	0.599000	0.40250	0.208000	0.24400	1.000000	0.68203	0.985000	0.61073	0.0:0.8005:0.0:0.1995	6.548	0.21615	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3613.81	36	chrX	64190538	.	C	T	3613.81	.	AC=2;AF=0.053;AN=38;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.16;SOR=0.979	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3641,303,0	18	1	0	0
chrX	67546517	67546517	C	0	exonic	AR	.	.	.	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	170	1174	107	66	5	244	0.092385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	216.15	58	chrX	67546517	.	C	*	216.15	.	AC=5;AF=0.156;AN=32;BaseQRankSum=1.31;DP=620;ExcessHet=0.1688;FS=2.79;InbreedingCoeff=0.1387;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=-0.423;SOR=1.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,2:5:67:.:.:67,0,105:.	12	1	3	3
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,14:172:99:0|1:74591902_T_A:112,0,6592:74591902	12	0	7	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	372.78	164	chrX	91436668	.	G	A	372.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.363;DP=1481;ExcessHet=0.7564;FS=155.266;InbreedingCoeff=-0.1236;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.819;SOR=8.608	GT:AD:DP:GQ:PL	0/1:60,20:80:88:88,0,1166	15	0	4	0
chrX	137031584	137031584	C	T	exonic	GPR101	.	nonsynonymous SNV	GPR101:NM_054021:exon2:c.G91A:p.G31S	Pituitary adenoma, growth hormone-secreting 2	426	1094	1	1	0	3	0.00136924	.	.	.	2882279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	0.00906308111877	0.0003	.	0.0010	0	0.0011	0.0002	0	0.0015	0.0016	0.0003	0.0007633	118	154602	rs138068185	0.0006	0.0006	0.0006	0.0006	0.0027	0.0006	0.0005	0.0015	0.0012	7.587e-05	0.0010	0.0216	0	2.478e-05	0.0027	0.0001	0.0019	0.0002	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0005	0.0004	6.452e-05	0	0.0009	0.0215	0	0	0.0093	0.0001	0	0	0.323	0.13436	T	0.42	0.14116	T	0.48	0.36739	P	0.072	0.28043	B	.	.	.	.	0.745878	0.29688	N	1.845	0.48678	L	1.26	0.36330	T	-0.57	0.17210	N	0.02	0.00308	-1.0838	0.06628	T	0.049	0.20711	T	9	0.0058976114	0.00132	T	0.009063	0.23845	T	0.062	0.17934	.	.	0.96746206543	0.96711	.	.	0.89827798365	0.70541	0.440764904022	0.30681	T	5.51E-4	0.00219	T	-0.528645	0.00391	T	-0.634105	0.10105	T	0.0208616862902688	0.00787	T	0.650035	0.26084	T	0.1658763	0.36888	0.26842114	0.52711	0.18768466	0.40234	0.25520706	0.51198	-2.836	0.08520	T	.	.	0.310	0.53747	B	.	.	2.261428	0.28895	17.95	0.9830297567117392	0.40068	0.92490	0.55834	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999977455974167	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.09	4.13	0.47661	0.446000	0.21410	3.416000	0.38220	0.549000	0.26987	0.984000	0.35821	0.998000	0.33993	0.979000	0.57723	0.2375:0.7625:0.0:0.0	10.625	0.44692	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.002065	0.000000	0.001855	0.007905	0.000000	0.000000	0.000000	0.000000	0.05263	3137.81	44	chrX	137031584	.	C	T	3137.81	.	AC=2;AF=0.053;AN=38;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.35;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3165,291,0	18	1	0	0
chrX	149599565	149599565	C	T	exonic	TMEM185A	.	nonsynonymous SNV	TMEM185A:NM_001174092:exon5:c.G620A:p.G207E,TMEM185A:NM_032508:exon6:c.G797A:p.G266E	.	420	1084	18	0	0	18	0.00823422	.	.	.	2424077	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.527	.	.	.	0.0090	0	0	0	.	0.0107	0	0	.	.	.	rs782032084	0.0057	0.0096	0.0082	0.0002	0.0063	0.0055	0.0055	0.0061	0.0060	0.0011	0.0032	0.0042	3.409e-05	0.0113	0.0048	0.0063	0.0054	0.0004	0.0039	0.0076	0.0052	0.0008	0.0056	0.0036	0.0035	0.0050	0.0048	0.0008	0	0.0036	0.0031	0	0.0093	0.0145	0.0056	0.0047	0.0004	.	.	.	0.003	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.73	0.26445	T	.	.	.	0.889	0.90476	-0.6719	0.61742	T	0.184	0.53331	T	10	0.010289013	0.00230	T	.	.	.	.	.	.	.	.	.	0.8568128047925844	0.85644	.	.	0.885326087475	0.94665	D	0.372878	0.73698	T	-0.144225	0.29219	T	0.0369747	0.72731	D	0.0948123463911389	0.11776	T	0.983002	0.94220	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.92581	P	.;.;.	.;.;.	4.714184	0.75770	26.4	0.99763465761409065	0.85254	0.97164	0.73066	D	AEFI	.	.	.	.	.	.	.	.	.	0.999976458047837	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37	4.37	0.51830	7.757000	0.84067	.	.	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.143	0.72302	889	0.27310	.;.;.	.	.	.	.	.	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	1	0	0.005602	0.000000	0.000000	0.032258	0.000000	0.000000	0.000000	0.000000	0.02632	995.33	36	chrX	149599565	.	C	T	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=800;ExcessHet=0;FS=18.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.98;MQRankSum=-5.304;QD=9.39;ReadPosRankSum=-0.972;SOR=2.079	GT:AD:DP:GQ:PL	0/1:64,42:106:99:1009,0,1674	18	0	1	0
chrX	150473695	150473695	T	A	exonic	MAMLD1	.	nonsynonymous SNV	MAMLD1:NM_001177466:exon3:c.T1858A:p.F620I,MAMLD1:NM_005491:exon4:c.T1933A:p.F645I	Hypospadias 2, X-linked, X-linked recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00907585763944	.	.	6.839e-05	0	0	0	0	2.084e-05	0	0.0005	7.12e-05	11	154602	.	4.556e-05	4.553e-05	1.906e-05	9.921e-05	0.0008	3.504e-05	3.162e-05	0.0006	0.0005	0	0	5.161e-05	0	0	0.0005	2.377e-06	6.511e-05	0.0008	1.788e-05	1.741e-05	0	5.88e-05	3.766e-05	2.97e-06	1.11e-06	6.25e-06	2.34e-06	0	0	0	0	0	0	0	3.766e-05	0	0	0.068	0.35726	T	0.436	0.13480	T	0.358	0.33818	B	0.039	0.23607	B	0.940829	0.07593	N	1.032470	1	0.08975	N	1.735	0.44892	L	0.35	0.58029	T	0.06	0.06253	N	0.101	0.30914	-1.0051	0.28427	T	0.107	0.39051	T	10	0.046710014	0.03897	T	0.009076	0.23893	T	0.074	0.21613	0.329	0.31357	0.370276754211	0.36643	.	.	.	.	.	.	.	0.047255	0.27667	T	-0.400464	0.02299	T	-0.470284	0.25485	T	0.0342853596816643	0.02686	T	0.685131	0.29365	T	0.08080728	0.18534	0.11570843	0.27932	0.08080728	0.18534	0.11570843	0.27931	-4.164	0.26228	T	.	.	0.517	0.65793	A	.;.;.	.;.;.	2.139439	0.27245	17.40	0.94649811774624526	0.25254	0.03734	0.09030	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.9996514768214	0.41424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.68	1.26	0.20534	0.365000	0.20076	0.791000	0.21569	0.665000	0.62972	0.061000	0.21800	0.977000	0.30130	0.999000	0.91618	0.0:0.2728:0.0:0.7272	4.809	0.12703	962	0.08456	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.000689	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	1615.81	39	chrX	150473695	.	T	A	1615.81	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.38;SOR=1.061	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1643,164,0	18	1	0	0
chrX	154448703	154448703	G	A	exonic	FAM50A	.	nonsynonymous SNV	FAM50A:NM_004699:exon6:c.G533A:p.R178Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.302564141271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.732e-06	2.732e-06	2.722e-06	2.753e-06	2.376e-06	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.31088	T	0.492	0.16280	T	0.967	0.56408	D	0.533	0.48638	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.23	0.30720	L	.	.	.	-1.82	0.47008	N	0.537	0.56489	-1.0048	0.28517	T	0.132	0.44425	T	9	0.34929729	0.51825	T	0.302564	0.90930	D	0.377	0.69527	0.448	0.50793	0.515165384546	0.51159	0.8056582591655255	0.80520	1.7642981659	0.91166	0.662050664425	0.61703	T	0.078287	0.35856	T	0.0701374	0.60867	D	-0.137029	0.60374	T	0.492277970410213	0.32347	T	0.946905	0.79675	D	0.5928964	0.72308	0.5074759	0.71535	0.5928964	0.72309	0.5074759	0.71535	-7.4	0.56905	T	0.1368672028401172	0.15006	0.146	0.34970	B	.;.	.;.	4.646730	0.74025	26.1	0.99879575112669106	0.95572	0.99203	0.92752	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999999975	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.32	5.32	0.75377	9.198000	0.94138	11.659000	0.93966	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.688	0.85173	76	0.96806	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1773.81	33	chrX	154448703	.	G	A	1773.81	.	AC=2;AF=0.053;AN=38;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.25;SOR=0.884	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1801,165,0	18	1	0	0
chrX	154776813	154776813	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1476_1477insAAG:p.K500_A501insK,DKC1:NM_001363:exon15:c.1491_1492insAAG:p.K505_A506insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208981	Dyskeratosis_congenita|not_specified|not_provided|Dyskeratosis_congenita,_X-linked	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00900662	0.0091	0.0009	0.0052	0	0.0021	0.0071	0.0171	0.0394	0.0007684	20	26028	rs1315337295	0.0043	0.0046	0.0053	0.0021	0.0376	0.0042	0.0041	0.0328	0.0309	0.0008	0.0041	0.0183	0.0002	0.0008	0.0376	0.0030	0.0064	0.0224	0.0045	0.0051	0.0047	0.0040	0.0300	0.0042	0.0040	0.0245	0.0225	0.0008	0	0.0076	0.0191	0.0003	0.0009	0.0372	0.0045	0.0101	0.0300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5912.29	36	chrX	154776813	.	C	CAAG	5912.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.737;DP=767;ExcessHet=0;FS=3.044;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=31.79;ReadPosRankSum=0.404;SOR=0.487	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1440,96,0	16	2	1	0