Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	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.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	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.1	CADD_raw_rankscore	CADD_phred.1	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.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	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.1	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	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES965	WT	HH	HZ	NC
chr1	946452	946452	A	T	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon15:c.T1753A:p.C585S,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.009	B	0.022	B	0.437	N	1.000	N	-0.08	N	1.08	T	-1.004	T	0.032	T	0.111	0.988	9.033	-7.51	-1.153	0.010	4.890	0.024	0.00579405024781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.752e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.06627	T	0.654	0.06643	T	0.008	0.14655	B	0.015	0.17295	B	0.437119	0.12674	N	0.751519	1	0.08975	N	0.66	0.16226	N	1.08	0.39401	T	0.76	0.01978	N	0.159	0.16586	-1.0035	0.28903	T	0.032	0.13811	T	10	0.07055357	0.10279	T	0.005794	0.15042	T	0.024	0.04979	0.365	0.37199	0.263140351381	0.25927	0.09753785471464999	0.09684	.	.	0.245211496949	0.03280	T	0.023501	0.17926	T	-0.287881	0.09850	T	-0.651297	0.08864	T	0.0295555267411471	0.01921	T	0.691431	0.30091	T	0.028534494	0.02207	0.0463229	0.06431	0.028534494	0.02206	0.0463229	0.06431	0.733	0.00170	T	.	.	0.089	0.12084	B	.	.	-0.389709	0.02250	0.231	0.56476185741714724	0.05560	0.31335	0.24311	N	AEFGBCI	0.048287	0.08223	N	-1.2174080146941	0.04747	0.2149106	-1.20536995871124	0.05823	0.2785475	0.998016422852793	0.36314	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.16	-7.51	0.01203	-0.124000	0.10571	.	.	-0.059000	0.16651	0.565000	0.27465	0.000000	0.08366	0.021000	0.11733	0.2416:0.0929:0.4962:0.1693	4.890	0.13080	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	676.33	38	chr1	946452	.	A	T	676.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.480e-01;DP=884;ExcessHet=0.0000;FS=5.341;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-9.100e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/1:29,28:57:99:690,0,798	19	0	1	1
chr1	1303203	1303203	G	A	exonic	ACAP3	.	nonsynonymous SNV	ACAP3:NM_030649:exon3:c.C184T:p.R62C,	.	.	434	1066	22	0	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.897	P	0.000	D	0.996	D	1.7	L	6.89	T	-1.157	T	0.008	T	0.641	3.351	17.29	3.33	2.177	2.112	10.408	0.113	.	0.0058	0.0109824	0.0173	0.0029	0.0920	0.0120	0	0.0121	0.0136	0.0082	0.0102651	1587	154602	rs145087137	0.0098	0.0098	0.0101	0.0096	0.0471	0.0097	0.0096	0.0454	0.0447	0.0024	0.0471	0.0179	0.0103	0.0009	0.0279	0.0090	0.0090	0.0059	0.0076	0.0076	0.0080	0.0072	0.0235	0.0072	0.0071	0.0215	0.0207	0.0025	0.0033	0.0235	0.0144	0.0068	0.0005	0.0238	0.0076	0.0175	0.0083	0.014	0.53172	D	0.111	0.42794	T	0.999	0.90584	D	0.807	0.63631	P	0.000002	0.62929	D	0.000000	0.995608	0.42768	D	1.905	0.50856	L	6.89	0.04446	T	-3.1	0.63554	D	0.793	0.78927	-1.1566	0.00842	T	0.008	0.02801	T	10	0.004399985	0.00090	T	.	.	.	0.113	0.31778	.	.	.	.	0.4656160404789092	0.46480	1.10122287715	0.77734	0.608934760094	0.54165	T	0.149929	0.48916	T	-0.401051	0.02279	T	-0.312353	0.43406	T	0.0229689569821304	0.01020	T	0.863414	0.55914	D	0.19107495	0.40719	0.16280355	0.37798	0.19107495	0.40719	0.16280355	0.37798	-11.683	0.83273	D	.	.	0.221	0.45224	B	.;.	.;.	5.262188	0.88351	29.6	0.9984607858335024	0.92576	0.94294	0.60709	D	AEFDBI	0.591001	0.58727	D	0.248984150455765	0.53588	3.52709	0.187298487634564	0.49151	3.121729	0.99994514814621	0.47345	0.706298	0.61202	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	3.498000	0.53064	7.399000	0.58563	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:0.8041:0.1959	10.408	0.43461	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	0.02381	725.98	41	chr1	1303203	.	G	A	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=802;ExcessHet=0.0000;FS=1.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=2.01;SOR=0.997	GT:AD:DP:GQ:PL	0/1:16,28:44:99:740,0,358	20	0	1	0
chr1	1311010	1311010	C	G	exonic	PUSL1	.	nonsynonymous SNV	PUSL1:NM_001346116:exon7:c.C870G:p.H290Q	.	.	406	1095	21	0	0	21	0.00949796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.784	P	0.377	B	0.003	N	1.000	N	0.205	N	0.61	T	-1.054	T	0.031	T	0.199	-0.638	1.182	-1.66	-0.217	-0.431	8.095	0.075	.	0.0013	0.0081869	0.0077	0.0005	0.0490	0.0069	0	0.0029	0.0045	0.0063	0.0070633	1092	154602	rs144555782	0.0040	0.0040	0.0040	0.0040	0.0411	0.0039	0.0039	0.0395	0.0389	0.0012	0.0411	0.0118	0.0103	0.0002	0.0267	0.0021	0.0045	0.0058	0.0039	0.0039	0.0038	0.0041	0.0189	0.0037	0.0036	0.0171	0.0164	0.0008	0.0033	0.0189	0.0092	0.0069	9.413e-05	0.0238	0.0021	0.0080	0.0083	0.314	0.13834	T	0.291	0.20944	T	0.784	0.44396	P	0.377	0.43762	B	0.002963	0.00929	N	3.413200	1	0.08975	N	0.595	0.15482	N	0.61	0.53516	T	-1.08	0.28084	N	0.263	0.29774	-1.0544	0.13198	T	0.031	0.13418	T	10	0.0031905472	0.00054	T	.	.	.	0.075	0.21907	0.363	0.36874	0.166414681773	0.16258	0.3177858859180514	0.31691	0.0892768414165	0.10086	0.41160517931	0.26678	T	0.018173	0.14695	T	-0.581168	0.00190	T	-0.575449	0.14953	T	0.0115784722198555	0.00176	T	0.608539	0.22995	T	0.069252	0.15157	0.049437147	0.07554	0.069252	0.15157	0.049437147	0.07553	-9.089	0.68267	D	.	.	0.201	0.42448	B	.;.	.;.	0.992398	0.13703	10.24	0.60160038095682122	0.06396	0.18174	0.20150	N	AEFBCI	0.134803	0.25493	N	-1.02056430156669	0.08178	0.3825228	-1.1600891790449	0.06589	0.3176404	0.999991054311857	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.58	-1.66	0.07824	-2.273000	0.01246	-0.336000	0.09852	-0.805000	0.03119	0.000000	0.06391	0.090000	0.22521	0.011000	0.09372	0.0:0.4722:0.0:0.5278	8.095	0.29983	774	0.48577	Pseudouridine synthase I, TruA, alpha/beta domain;Pseudouridine synthase I, TruA, alpha/beta 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	0.02381	1551.98	44	chr1	1311010	.	C	G	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.843;DP=928;ExcessHet=0.0000;FS=2.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=0.717;SOR=0.702	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1566,0,2028	20	0	1	0
chr1	1327705	1327705	G	A	exonic	CPTP	.	nonsynonymous SNV	CPTP:NM_001029885:exon3:c.G587A:p.R196H,	.	.	420	1091	11	0	0	11	0.00501596	.	.	2805477	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.001	B	0.908	N	1.000	N	1.01	L	.	.	-1.060	T	0.049	T	0.068	0.447	6.426	-7.41	-1.578	0.612	17.372	0.165	.	0.0029	0.00539137	0.0073	0.0015	0.0005	0.0001	0.0639	0.0040	0.0137	0.0095	0.0061383	949	154602	rs150672559	0.0053	0.0053	0.0052	0.0054	0.0096	0.0052	0.0052	0.0090	0.0088	0.0012	0.0005	3.828e-05	0.0006	0.0623	0.0069	0.0030	0.0038	0.0096	0.0074	0.0074	0.0046	0.0103	0.0072	0.0070	0.0069	0.0054	0.0047	0.0014	0	0.0009	0	0.0002	0.0759	0.0034	0.0031	0.0024	0.0072	0.267	0.16198	T	0.143	0.33219	T	0.004	0.12183	B	0.001	0.04355	B	0.908262	0.08571	N	0.953087	1	0.08975	N	0.58	0.15352	N	.	.	.	-0.77	0.21429	N	0.077	0.05162	-1.0599	0.11781	T	0.049	0.20987	T	9	0.0027572215	0.00043	T	.	.	.	0.165	0.42395	.	.	0.15556083564	0.15200	0.3042499643261352	0.30337	0.159076953761	0.17949	0.190905958414	0.00241	T	0.139094	0.47294	T	-0.645853	0.00077	T	-0.692966	0.06219	T	0.0043057328636276	0.00046	T	0.684232	0.29249	T	0.09764093	0.23018	0.14121509	0.33636	0.09764093	0.23017	0.14121509	0.33635	-5.096	0.37865	T	.	.	0.064	0.01622	B	.	.	0.282895	0.06599	3.089	0.88497534075742779	0.18024	0.02891	0.07678	N	AEFDBCI	0.106102	0.21181	N	-1.39097454191824	0.02722	0.1205953	-1.50454749327606	0.02309	0.1059861	0.999961495446834	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	-7.41	0.01247	0.852000	0.27417	-1.609000	0.05069	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.8013:0.0:0.1987:0.0	17.372	0.87270	764	0.49969	.	.	.	.	.	rs150672559	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	622.98	71	chr1	1327705	.	G	A	622.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=1497;ExcessHet=0.0000;FS=5.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.65;ReadPosRankSum=1.10;SOR=1.429	GT:AD:DP:GQ:PL	0/1:47,25:72:99:637,0,1195	20	0	1	0
chr1	1462625	1462625	T	C	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon11:c.T1006C:p.Y336H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.966	D	0.615	P	0.000	D	1.000	D	2.275	M	-1.13	T	-0.285	T	0.431	T	0.5	2.220	13.38	2.46	1.001	7.577	9.174	0.523	0.0373475310858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.066e-06	2.737e-06	2.738e-06	1.387e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.557e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.39	0.15506	T	0.966	0.56202	D	0.615	0.51231	P	0.000002	0.62929	D	0.061993	0.999996	0.58761	D	2.835	0.82492	M	-1.13	0.77719	T	-4.24	0.76015	D	0.623	0.63798	-0.2853	0.75396	T	0.431	0.77284	T	10	0.77779806	0.77603	D	0.037348	0.57560	D	0.523	0.79765	0.545	0.65873	0.872295613195	0.87104	0.2807005451925002	0.27983	0.206839020483	0.23117	0.759431481361	0.75845	T	0.026053	0.19360	T	0.0700162	0.60851	D	-0.137203	0.60359	T	0.993415594100952	0.84204	D	0.966903	0.87955	D	0.37481618	0.58939	0.24725825	0.50252	0.37481618	0.58939	0.24725825	0.50251	-6.252	0.48341	T	.	.	0.275	0.50880	B	.	.	4.354815	0.66921	25.0	0.99391502065640458	0.62383	0.92755	0.56466	D	ALL	0.737232	0.68249	D	0.161577276332382	0.49361	3.137406	0.030649658475164	0.41145	2.467126	0.999999999999971	0.74766	0.700653	0.57754	0	0.218748	0.04544	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	2.46	2.46	0.29032	5.765000	0.68486	7.740000	0.67992	0.386000	0.20455	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:0.0:1.0	9.174	0.36259	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2018.98	35	chr1	1462625	.	T	C	2018.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.085e+00;DP=858;ExcessHet=0.0000;FS=4.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-2.040e-01;SOR=0.422	GT:AD:DP:GQ:PL	0/1:67,82:149:99:2033,0,1714	20	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.069	12.87	5.68	2.154	8.733	15.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	383.65	28	chr1	3836493	.	A	C	383.65	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.212e+00;DP=963;ExcessHet=1.7912;FS=18.016;InbreedingCoeff=-0.3299;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=1.90;SOR=2.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,9:36:35:.:.:35,0,627	7	0	6	8
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	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	1	0	0	0	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,3:23:41:0|1:7933282_T_C:41,0,681:7933282	8	0	10	3
chr1	7933285	7933285	G	A	exonic	TNFRSF9	.	stopgain	TNFRSF9:NM_001561:exon7:c.C556T:p.Q186X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	.	.	.	.	0.332	N	1.000	A	.	.	.	.	.	.	.	.	.	4.414	23.4	4.43	2.479	1.180	12.735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.332256	0.04138	N	1.435410	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.855	0.85132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366827	0.87775	D	0.289145	0.87619	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.175517	0.94728	34	0.99348834800104535	0.60493	0.10423	0.15934	N	AEFBI	0.048918	0.08399	N	0.241177414207673	0.53206	3.490411	-0.0555314215728076	0.37251	2.178615	0.420669811402195	0.20289	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	4.43	0.52967	1.197000	0.31819	2.034000	0.30268	0.676000	0.76740	0.002000	0.15269	0.019000	0.20708	0.139000	0.19909	0.0:0.0:1.0:0.0	12.735	0.56589	804	0.43891	.;.;.	.	.	.	.	.	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	0.04762	122.11	32	chr1	7933285	.	G	A	122.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.039;DP=675;ExcessHet=0.1072;FS=10.794;InbreedingCoeff=-0.0503;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.65;ReadPosRankSum=0.736;SOR=3.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,3:22:43:0|1:7933282_T_C:43,0,674:7933282	19	0	2	0
chr1	10638964	10638964	G	T	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon21:c.C5258A:p.P1753H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.688	P	0.371	B	.	.	1.000	N	0	N	.	.	-1.057	T	0.042	T	0.194	1.782	11.92	2.07	0.357	1.275	6.741	0.077	0.514545501512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.989e-06	5.472e-06	6.678e-06	5.186e-06	0.0018	1.75e-06	1.28e-06	0.0005	0.0003	0	0	0	0	0	0.0018	0	7.308e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.688	0.41582	P	0.371	0.43568	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.9	0.24244	N	0.245	0.27673	-1.0571	0.12491	T	0.042	0.18243	T	8	0.18106663	0.33320	T	0.514546	0.95353	D	0.077	0.22490	0.122	0.02867	0.043077524339	0.03247	0.09075409165664526	0.09008	.	.	0.758153796196	0.75655	T	0.151567	0.49156	T	-0.0883938	0.38342	T	-0.364748	0.37502	T	0.44678397303069	0.30678	T	0.276972	0.04759	T	0.19092199	0.40698	0.23980162	0.49339	0.19092199	0.40698	0.23980162	0.49337	-7.473	0.57420	T	.	.	0.247	0.48198	B	.	.	3.110847	0.41958	21.4	0.98349357271836524	0.40527	0.07247	0.13271	N	AEFDBCI	0.042263	0.06534	N	-0.470887896698116	0.23038	1.23437	-0.505273714431812	0.22009	1.193385	0.99996385316514	0.48965	0.403107	0.06075	0	0.578056	0.33634	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.01	2.07	0.26004	1.062000	0.30164	4.107000	0.41897	0.404000	0.20573	0.009000	0.18154	1.000000	0.68203	0.691000	0.33868	0.3311:0.0:0.6689:0.0	6.741	0.22623	743	0.52768	.	.	.	.	.	.	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	0.03846	32.57	80	chr1	10638964	.	G	T	32.57	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-9.670e-01;DP=80;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1198;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	12	0	1	8
chr1	10639099	10639104	TCGTCG	-	exonic	CASZ1	.	nonframeshift deletion	CASZ1:NM_001079843:exon21:c.5118_5123del:p.D1706_D1707del,	.	.	533	983	4	1	1	7	0.0030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.025e-05	1.328e-05	9.966e-06	1.054e-05	0.0011	5.18e-06	3.78e-06	0.0003	0.0002	0.0002	0	0	0	0	0.0011	2.434e-06	6.002e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	181.02	13	chr1	10639098	.	CTCGTCG	C,*	181.02	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.550e-01;DP=444;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0502;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=1.02;SOR=0.836	GT:AD:DP:GQ:PL	0/1:5,5,0:10:99:195,0,195,210,210,420	19	0	1	0
chr1	10639098	10639104	CTCGTCG	0	exonic	CASZ1	.	.	.	.	.	533	983	4	1	1	7	0.0030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	181.02	13	chr1	10639098	.	CTCGTCG	C,*	181.02	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-3.550e-01;DP=444;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0502;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=1.02;SOR=0.836	GT:AD:DP:GQ:PL	0/1:5,5,0:10:99:195,0,195,210,210,420	19	0	1	0
chr1	12760875	12760875	C	T	exonic	C1orf158	.	nonsynonymous SNV	C1orf158:NM_001330361:exon3:c.C395T:p.P132L	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.996	D	0.68	P	0.000	D	0.858	N	2.395	M	0.55	T	-0.663	T	0.234	T	0.775	3.157	16.56	3.82	1.181	1.219	10.036	0.275	0.0149375205168	0.0022	0.00179712	0.0038	0.0002	0.0014	0.0001	0.0097	0.0035	0.0022	0.0082	0.0034346	531	154602	rs41301981	0.0042	0.0042	0.0041	0.0043	0.0074	0.0041	0.0041	0.0070	0.0068	0.0005	0.0014	0.0025	0.0002	0.0083	0.0040	0.0042	0.0036	0.0074	0.0030	0.0030	0.0029	0.0031	0.0046	0.0028	0.0027	0.0034	0.0033	0.0007	0	0.0016	0.0017	0.0002	0.0107	0	0.0038	0.0019	0.0046	0.004	0.65419	D	0.005	0.72224	D	.	.	.	.	.	.	0.000048	0.53742	D	0.124483	0.858323	0.28394	N	.	.	.	0.48	0.55945	T	-5.23	0.83899	D	0.242	0.31365	-0.6626	0.62161	T	0.234	0.60014	T	10	0.006723851	0.00153	T	0.014938	0.35377	T	0.275	0.59130	.	.	0.596874347621	0.59366	0.5815188365855514	0.58080	.	.	.	.	.	0.160	0.50353	T	-0.232943	0.16262	T	-0.102677	0.63191	T	0.0520408181286664	0.05854	T	0.736726	0.35329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.15475	B	.;.	.;.	2.227671	0.28431	17.80	0.99407360430030645	0.63122	0.14952	0.18669	N	AEFDBCI	0.030239	0.03006	N	-0.0848517175232888	0.38057	2.223174	-0.28638568233349	0.28547	1.592503	2.45583534364123E-4	0.06141	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.75	3.82	0.43153	0.953000	0.28759	1.234000	0.25062	0.599000	0.40250	0.014000	0.18986	0.616000	0.25792	0.023000	0.12082	0.2014:0.7986:0.0:0.0	10.036	0.41303	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	0.02381	1392.98	34	chr1	12760875	.	C	T	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.855;DP=822;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.055;SOR=0.824	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1407,0,1766	20	0	1	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H,	.	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.002	B	0.002	B	0.074	N	1.000	N	.	.	2.79	T	-1.004	T	0.017	T	0.07	-1.859	0.009	-2.1	-2.222	-0.392	0.380	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	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	1	0	0	0	0.07143	906.68	50	chr1	13318598	.	G	A	906.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.608;DP=1464;ExcessHet=0.3300;FS=10.291;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.78;MQRankSum=-1.888e+00;QD=1.52;ReadPosRankSum=-1.951e+00;SOR=2.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,15:163:99:0|1:13318598_G_A:184,0,6038:13318598	18	0	3	0
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H,	.	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.009	B	0.006	B	0.213	N	1.000	N	.	.	2.79	T	-0.966	T	0.017	T	0.062	-0.778	0.738	-0.162	-0.693	-0.526	6.180	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	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	1	0	0	0	0.07143	868.68	50	chr1	13318601	.	G	A	868.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.06;DP=1442;ExcessHet=0.3300;FS=13.380;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.67;MQRankSum=-1.868e+00;QD=1.46;ReadPosRankSum=-2.094e+00;SOR=2.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,15:163:99:0|1:13318598_G_A:184,0,6041:13318598	18	0	3	0
chr1	13319836	13319836	A	0	exonic	PRAMEF15	.	.	.	.	.	432	909	136	0	45	181	0.0696008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	989.28	40	chr1	13319836	.	A	G,*	989.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.654e+00;DP=2161;ExcessHet=0.3300;FS=6.894;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=31.09;MQRankSum=-5.001e+00;QD=0.84;ReadPosRankSum=2.87;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:263,62,0:325:99:.:.:569,0,6849,1357,7035,8392	18	0	2	0
chr1	13344444	13344444	A	G	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon3:c.T460C:p.C154R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.986	D	0.014	N	1.000	N	2.455	M	2.37	T	-1.037	T	0.111	T	0.284	1.504	10.98	1.69	1.029	0.563	5.479	0.067	0.000546111732021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	2.733e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.086	0.40909	T	.	.	.	.	.	.	0.014195	0.01383	N	2.310220	1	0.08975	N	.	.	.	2.37	0.15964	T	-8.18	0.96794	D	0.297	0.33578	-1.0366	0.18357	T	0.111	0.39912	T	10	0.40770823	0.56008	T	0.002532	0.05065	T	0.067	0.19503	0.588	0.71623	0.128874641272	0.12493	0.31889382072476236	0.31802	4.99964404664	0.99994	.	.	.	.	.	.	-0.264241	0.12407	T	-0.617341	0.11395	T	0.873524069786072	0.52338	D	0.446155	0.12501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.41873	B	.	.	1.770748	0.22522	15.65	0.96299862491050936	0.29344	0.01035	0.03875	N	AEFI	0.049353	0.08517	N	-0.306683882228775	0.28893	1.597556	-0.594830639264703	0.19627	1.053904	3.2648510006376E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	-0.132000	0.10446	-14.913000	0.00380	-0.622000	0.04550	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	5.479	0.16004	982	0.03397	.	.	.	.	.	.	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	1	0	0	0	0.02381	2385.98	36	chr1	13344444	.	A	G	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.731e+00;DP=915;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.15;MQRankSum=-4.519e+00;QD=13.79;ReadPosRankSum=-4.600e-02;SOR=0.692	GT:AD:DP:GQ:PL	0/1:73,100:173:99:2400,0,1856	20	0	1	0
chr1	15937527	15937527	G	C	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon12:c.G10391C:p.G3464A,	.	.	420	1101	1	0	0	1	0.000453926	.	.	2386090	Radio-Tartaglia_syndrome|SPEN-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0859143,MedGen:C5543339,OMIM:619312,Orphanet:662234|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.005	B	0.005	B	.	.	0.532	D	1.78	L	3.03	T	-1.049	T	0.024	T	0.218	1.722	11.72	5.78	2.717	4.230	13.531	0.080	0.00254976266685	0.0019	0.000599042	0.0016	0.0004	0.0012	0	0.0003	0.0026	0.0033	6.056e-05	0.0017011	263	154602	rs41269153	0.0028	0.0028	0.0028	0.0027	0.0034	0.0027	0.0027	0.0033	0.0033	0.0003	0.0015	3.826e-05	0	0.0003	0.0014	0.0034	0.0028	0.0001	0.0019	0.0019	0.0022	0.0016	0.0030	0.0017	0.0016	0.0027	0.0025	0.0007	0	0.0029	0	0	0.0003	0.0034	0.0030	0.0038	0	0.073	0.34800	T	0.236	0.24694	T	0.005	0.12996	B	0.005	0.11217	B	.	.	.	.	0.532297	0.31985	D	2.125	0.59049	M	3.03	0.08898	T	-1.23	0.31170	N	0.12	0.11054	-1.0491	0.14649	T	0.024	0.10148	T	9	0.007499397	0.00170	T	0.00255	0.05121	T	0.080	0.23350	.	.	0.355511061997	0.35164	0.2302276244582716	0.22937	0.267589560466	0.29301	0.426672160625	0.28753	T	0.182082	0.53397	T	-0.531993	0.00374	T	-0.540626	0.18236	T	0.0186641632373435	0.00580	T	0.777822	0.41150	T	0.08614527	0.20012	0.10865732	0.26175	0.08614527	0.20012	0.10865732	0.26175	-2.614	0.06610	T	.	.	0.107	0.20235	B	.	.	3.117478	0.42078	21.5	0.9344105641399747	0.23218	0.97680	0.76366	D	AEFDGBCI	0.445044	0.50168	N	-0.0455597147757026	0.39801	2.353046	0.154110628451574	0.47362	2.967428	0.999999994199829	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.591603	0.36755	0	.	.	5.78	5.78	0.91418	2.588000	0.45802	7.621000	0.62310	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.8441:0.1559	13.531	0.61079	416	0.81733	.	.	.	.	.	.	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	0.02381	1668.98	80	chr1	15937527	.	G	C	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.607e+00;DP=959;ExcessHet=0.0000;FS=2.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.985;SOR=0.923	GT:AD:DP:GQ:PL	0/1:70,63:133:99:1683,0,1988	20	0	1	0
chr1	16202497	16202497	C	A	exonic	ARHGEF19	.	nonsynonymous SNV	ARHGEF19:NM_153213:exon13:c.G1985T:p.G662V,	.	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.992	D	0.000	D	1.000	D	1.82	L	-0.06	T	-0.306	T	0.372	T	0.45	4.400	23.3	4.81	2.217	6.498	13.367	0.359	0.132828007127	.	0.000399361	9.973e-05	0	8.675e-05	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs201415943	8.893e-05	8.893e-05	6.806e-05	0.0001	0.0019	7.622e-05	7.167e-05	0.0011	0.0008	0	6.709e-05	3.826e-05	0	0	0.0019	6.025e-05	0.0001	0.0005	7.876e-05	7.873e-05	7.706e-05	8.053e-05	0.0002	4.492e-05	3.509e-05	7.908e-05	5.994e-05	2.405e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.014	0.53172	D	0.011	0.64786	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	-0.06	0.63568	T	-8.06	0.96621	D	0.332	0.37301	-0.3064	0.74806	T	0.372	0.73076	T	10	0.19454846	0.35270	T	0.132828	0.81518	D	0.359	0.67962	.	.	0.765010141717	0.76287	0.6904994707378325	0.68989	1.03404003481	0.75517	0.696405172348	0.66625	T	0.028541	0.20653	T	-0.207163	0.19781	T	-0.224833	0.52270	T	0.894906461238861	0.54637	D	0.90041	0.65400	D	0.830834	0.85960	0.70763934	0.82761	0.830834	0.85962	0.70763934	0.82762	-13.923	0.92804	D	.	.	0.309	0.53709	B	.	.	5.001515	0.82994	27.9	0.99765432124054265	0.85417	0.96881	0.71447	D	AEFDBI	0.700755	0.65767	D	0.664400685243365	0.77304	6.649037	0.637125038177096	0.77655	6.721392	0.999999999630165	0.74766	0.631515	0.41029	0	0.659464	0.62310	0	0.697927	0.64325	0	0.683762	0.67416	0	.	.	4.81	4.81	0.61401	3.217000	0.50886	7.562000	0.60503	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	13.367	0.60130	212	0.91760	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1543.98	34	chr1	16202497	.	C	A	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e+00;DP=971;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=1.54;SOR=0.605	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1558,0,1257	20	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:544,79:623:99:663,0,16765	3	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	.	.	.	.	.	.	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	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:748,104:852:99:558,0,21331	3	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	.	.	.	.	.	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	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:756,200:956:99:.:.:4560,0,28287	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:847,94:941:99:.:.:212,0,33484	7	0	13	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:450,243:693:99:5620,0,12793	1	0	20	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,32:267:99:0|1:16577387_T_C:200,0,6828:16577387	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,13:67:99:0|1:16579293_A_G:383,0,2228:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,13:67:99:0|1:16579293_A_G:383,0,2228:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,10:69:99:0|1:16579305_G_A:242,0,2435:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,10:69:99:0|1:16579305_G_A:242,0,2435:16579305	8	0	13	0
chr1	16582638	16582638	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	449	968	105	0	0	105	0.0514454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1219	0.000599042	0.2131	0.3572	0.1575	0.3394	0.1525	0.2000	0.2186	0.1841	0.0010373	27	26028	rs375545829	1.578e-05	0.0001	2.132e-05	1.038e-05	0.0003	9.86e-06	8.14e-06	0.0002	0.0001	0.0003	0.0001	0	0	0	0	4.831e-06	2.006e-05	0	0.0002	0.0011	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	1.475e-05	0.0005	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	0.07143	235.74	47	chr1	16582638	.	C	T	235.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.07;DP=948;ExcessHet=0.3300;FS=14.773;InbreedingCoeff=-0.0783;MLEAC=3;MLEAF=0.071;MQ=36.82;MQRankSum=1.10;QD=1.66;ReadPosRankSum=0.00;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,4:39:55:.:.:55,0,1347	18	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	1/1:0,19:19:57:667,57,0	2	7	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.191	B	0.089	B	0.081	N	.	.	.	.	.	.	-0.989	T	0.089	T	0.142	-0.797	0.685	.	0.000	1.701	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.125	5178.17	639	chr1	16760964	.	A	G	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.286e+00;DP=13143;ExcessHet=1.1607;FS=0.760;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.59;MQRankSum=2.89;QD=1.46;ReadPosRankSum=0.558;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:576,71:647:99:.:.:177,0,20458	15	0	5	1
chr1	24964531	24964531	G	A	exonic	RUNX3	.	nonsynonymous SNV	RUNX3:NM_001031680:exon1:c.C41T:p.S14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.938	P	0.358	B	0.595	N	1.000	D	0.55	N	-4.2	D	0.500	D	0.772	D	0.187	2.433	14.09	5.67	2.677	5.755	15.283	0.405	0.046325010921	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896082468	3.426e-06	5.472e-06	2.726e-06	4.133e-06	5.049e-05	1e-06	7.3e-07	8.37e-06	3.13e-06	0	0	0	5.049e-05	1.88e-05	0	1.8e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	0.065	0.36310	T	0.418	0.14200	T	0.938	0.52538	P	0.358	0.43079	B	0.594662	0.11016	N	0.738391	0.906762	0.27591	N	.	.	.	-4.2	0.96934	D	-0.87	0.23590	N	0.362	0.49055	0.500	0.90549	D	0.772	0.92245	D	10	0.32341564	0.49679	T	0.046325	0.62405	D	0.405	0.71791	0.153	0.05648	0.621544763488	0.61847	0.5215621762343728	0.52079	1.19044954112	0.80269	.	.	.	.	.	.	0.0861548	0.62753	D	-0.114021	0.62290	T	0.966047942638397	0.67458	D	0.794521	0.43681	T	.	.	.	.	.	.	.	.	-3.956	0.23143	T	.	.	0.201	0.42506	B	.;.	.;.	4.043688	0.59881	24.2	0.99620491263715549	0.75413	0.93977	0.59744	D	AEFGBHCI	0.538718	0.55599	D	0.161863953790473	0.49374	3.138621	0.295822925735127	0.55294	3.692674	0.999999999968101	0.74766	0.497415	0.19182	0	0.52208	0.09955	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	6.230000	0.72251	9.972000	0.82868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.705000	0.34296	0.0:0.0:1.0:0.0	15.283	0.73498	606	0.67383	.;.	.	.	.	.	.	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	0.02381	1681.98	48	chr1	24964531	.	G	A	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=-1.935e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:37,65:102:99:1696,0,721	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51,0:51:99:1|1:26282270_C_T:2289,154,0,2289,154,2289:26282270	0	9	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,18,0:56:99:0|1:26282270_C_T:637,0,1497,751,1551,2303:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,18,39:57:99:0|1:26282270_C_T:2341,1583,1526,753,0,634:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,38,20:58:99:0|1:26282270_C_T:2364,807,714,1538,0,1475:26282270	1	1	5	4
chr1	36098036	36098036	C	T	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_001294347:exon4:c.G1450A:p.G484S	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	.	.	.	.	.	.	.	.	.	.	1512894	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.981	D	0.553	P	0.054	N	1.000	D	2.705	M	-4.24	D	0.949	D	0.906	D	0.45	2.653	14.83	3.85	2.166	2.822	16.327	0.563	0.223354629826	.	.	0.0001	0.0002	0.0001	0	0	6.156e-05	0.0017	0.0002	5.82e-05	9	154602	rs780054210	5.345e-05	5.267e-05	4.83e-05	5.868e-05	0.0009	4.341e-05	4.011e-05	0.0004	0.0002	0.0002	0.0002	0	5.073e-05	0	0.0009	3.074e-05	8.371e-05	0.0002	9.86e-05	9.85e-05	7.711e-05	0.0001	0.0004	6.009e-05	4.882e-05	0.0002	0.0001	7.239e-05	0	0.0004	0	0	0	0	5.884e-05	0.0005	0.0002	0.228	0.23541	T	0.132	0.40110	T	0.981	0.59675	D	0.553	0.49313	P	0.053595	0.22795	N	0.490245	0.999761	0.48888	D	1.355	0.33814	L	-4.24	0.97030	D	-0.36	0.13035	N	0.155	0.25499	0.949	0.96385	D	0.906	0.96892	D	10	0.18485469	0.33879	T	0.223355	0.87898	D	0.563	0.82118	.	.	0.67569926003	0.67294	0.4999777597793418	0.49918	1.02307863419	0.75181	0.547991454601	0.45574	T	0.141022	0.47586	T	-0.0642576	0.42239	T	-0.036591	0.67930	D	0.0532507747411728	0.06062	T	0.812719	0.46941	T	0.089348026	0.20872	0.12736724	0.30660	0.09654623	0.22741	0.0993673	0.23722	-4.076	0.24935	T	.	.	0.104	0.18910	B	.;.;.	.;.;.	3.104294	0.41847	21.4	0.99573079059653813	0.72501	0.79312	0.39277	D	AEFBCI	0.641492	0.61881	D	0.365266632525459	0.59550	4.135385	0.304073934358086	0.55778	3.740706	0.999998248264309	0.74766	0.608966	0.35542	0	0.514364	0.08380	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	1.164000	0.31420	5.908000	0.50981	0.587000	0.30956	0.047000	0.21291	1.000000	0.68203	0.255000	0.23391	0.0:1.0:0.0:0.0	16.327	0.82819	183	0.92871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	657.98	34	chr1	36098036	.	C	T	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=786;ExcessHet=0.0000;FS=1.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=0.856;SOR=0.495	GT:AD:DP:GQ:PL	0/1:19,24:43:99:672,0,442	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,4,0:8:99:.:.:103,0,103,115,115,230	0	12	8	0
chr1	39901840	39901840	C	T	exonic	MYCL	.	nonsynonymous SNV	MYCL:NM_001033082:exon1:c.G49A:p.G17S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	0.904	N	1.000	D	-0.345	N	1.97	T	-1.002	T	0.144	T	0.068	2.478	14.25	2.12	0.343	0.273	4.681	0.043	0.639396131091	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334492695	7.192e-06	3.283e-05	5.271e-06	9.204e-06	0.0003	3.09e-06	2.24e-06	2.857e-05	1.718e-05	0	6.815e-05	0	0	0	0.0003	1.08e-06	2.369e-05	8.395e-05	6.68e-06	6.582e-06	0	1.369e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.691	0.04957	T	0.723	0.05292	T	.	.	.	.	.	.	0.904317	0.08598	N	0.935361	1	0.81001	D	.	.	.	-0.88	0.74689	T	0.16	0.05217	N	0.202	0.22357	-1.0016	0.29459	T	0.144	0.46696	T	8	0.14148134	0.26883	T	0.639396	0.96923	D	0.043	0.11576	0.338	0.32816	0.328752806141	0.32485	0.16170744632608494	0.16091	0.661091555139	0.58901	0.765502154827	0.76750	T	.	.	.	-0.168591	0.25449	T	-0.479946	0.24452	T	0.297150194644928	0.24886	T	0.426857	0.11480	T	.	.	.	.	.	.	.	.	-4.064	0.25804	T	.	.	0.137	0.29995	B	.;.	.;.	2.019040	0.25655	16.84	0.98730695351639586	0.45348	0.52982	0.29262	D	ALL	0.071754	0.14295	N	-0.434995983689647	0.24251	1.30817	-0.38453085360722	0.25458	1.400125	0.999999999999741	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.06	2.12	0.26372	0.777000	0.26379	0.378000	0.17749	-0.225000	0.07834	0.600000	0.27747	0.975000	0.29991	0.986000	0.61781	0.3832:0.5109:0.0:0.1059	4.681	0.12117	70	0.97015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	215.98	23	chr1	39901840	.	C	T	215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.660;DP=493;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.624;SOR=0.740	GT:AD:DP:GQ:PL	0/1:11,11:22:99:230,0,222	20	0	1	0
chr1	46303294	46303294	C	T	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon1:c.G29A:p.R10Q,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.414	B	0.05	B	.	.	0.985	N	0.345	N	0.83	T	-1.073	T	0.068	T	0.451	3.603	18.34	3.66	0.708	2.465	9.920	0.110	0.0159833361987	.	0.000599042	0.0004	0.0029	0	0	0	0.0003	0	0.0003	0.0001488	23	154602	rs552710485	0.0001	0.0001	9.959e-05	0.0001	0.0015	9.696e-05	9.133e-05	0.0011	0.0010	0.0015	0.0005	0	0	0	0.0005	4.37e-05	0.0002	0.0004	0.0005	0.0005	0.0004	0.0006	0.0013	0.0004	0.0004	0.0011	0.0010	0.0013	0	0.0005	0	0	0	0	5.88e-05	0.0019	0.0006	0.0	0.91255	D	0.421	0.14075	T	0.128	0.27003	B	0.011	0.15521	B	.	.	.	.	0.984653	0.24781	N	0	0.06538	N	0.83	0.47815	T	-0.11	0.08653	N	0.259	0.40364	-1.0725	0.08873	T	0.068	0.27845	T	9	0.010084569	0.00226	T	0.015983	0.37005	T	0.110	0.31079	.	.	0.196089822672	0.19227	0.3305194657290318	0.32964	0.932577674306	0.71894	0.715742647648	0.69427	T	0.003956	0.03363	T	-0.317552	0.07100	T	-0.235702	0.51217	T	0.154340999246711	0.17444	T	0.679032	0.28770	T	0.2053594	0.42676	0.3256703	0.58481	0.2053594	0.42676	0.3256703	0.58480	-4.768	0.34216	T	.	.	0.332	0.56396	B	.;.	.;.	4.347063	0.66733	25.0	0.99671941251785934	0.78652	0.55928	0.29988	D	ALL	0.229651	0.35314	N	-0.376081548272748	0.26324	1.435791	-0.200517929057503	0.31518	1.784484	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.289072	0.05449	1	0.249971	0.05119	0	.	.	5.51	3.66	0.41111	1.440000	0.34634	4.021000	0.41251	-0.242000	0.07441	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.836:0.0:0.164	9.920	0.40626	95	0.96074	.;.	.	.	.	.	.	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	0.02381	648.98	34	chr1	46303294	.	C	T	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=764;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-9.430e-01;SOR=0.514	GT:AD:DP:GQ:PL	0/1:28,27:55:99:663,0,654	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,0,13:14:36:.:.:474,476,479,36,39,0	0	2	0	0
chr1	52055094	52055094	C	T	exonic	TXNDC12	.	startloss	TXNDC12:NM_015913:exon1:c.G3A:p.M1?,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.084	N	1.000	D	.	.	0.99	T	-1.043	T	0.089	T	0.54	1.849	12.14	4.07	1.419	2.419	11.366	0.211	0.0224398896027	.	.	8.479e-06	0	0	0	0	1.547e-05	0	0	2.59e-05	4	154602	rs748632235	4.586e-05	4.652e-05	3.678e-05	5.504e-05	0.0002	3.664e-05	3.349e-05	4.354e-05	3.947e-05	0	0	0	0	0	0.0002	5.49e-05	8.283e-05	0	2.627e-05	2.626e-05	3.853e-05	1.345e-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	0.212	0.19500	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.084255	0.20707	N	0.528749	1	0.81001	D	.	.	.	0.99	0.41750	T	-0.11	0.08653	N	0.573	0.64989	-1.0431	0.16383	T	0.089	0.34243	T	9	0.5260322	0.62914	D	0.02244	0.45329	T	0.211	0.50185	0.536	0.64585	0.482209950775	0.47853	0.839437642731608	0.83903	.	.	.	.	.	0.017723	0.14410	T	-0.221833	0.17743	T	-0.351874	0.38991	T	0.397491425275803	0.28847	T	0.9	0.65058	D	0.45704123	0.64487	0.42143875	0.66076	0.45704123	0.64488	0.42143875	0.66076	-10.795	0.78521	D	.	.	.	.	.	.;.	.;.	3.444697	0.47939	22.5	0.97697118446044218	0.35412	0.89542	0.50073	D	ALL	0.038054	0.05327	N	-0.251410239165695	0.31046	1.737063	-0.152981540640115	0.33294	1.902987	0.999999999999943	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.01	4.07	0.46726	2.448000	0.44584	3.104000	0.36331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:0.8169:0.1831:0.0	11.366	0.48910	477	0.77662	.;.	.	.	.	.	.	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	0.02381	1028.98	37	chr1	52055094	.	C	T	1028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.245;DP=808;ExcessHet=0.0000;FS=3.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=0.993;SOR=1.091	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1043,0,832	20	0	1	0
chr1	52388507	52388507	A	G	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon8:c.T1318C:p.S440P	Meier-Gorlin syndrome 1, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	206827	not_specified|not_provided|Meier-Gorlin_syndrome_1|ORC1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.009	B	0.004	B	0.042	N	1.000	N	2.125	M	0.92	T	-0.999	T	0.098	T	0.068	1.415	10.67	1.62	0.472	0.633	5.944	0.030	0.0185297104005	0.0008	0.000599042	0.0010	0	0.0011	0	0	0.0015	0.0011	0.0004	0.0009508	147	154602	rs61756136	0.0008	0.0008	0.0008	0.0008	0.0243	0.0007	0.0007	0.0210	0.0198	0.0010	0.0010	0.0111	0	0	0.0243	0.0004	0.0020	0.0005	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0006	0.0005	0.0004	0.0001	0	0.0004	0.0121	0	0	0.0272	0.0006	0.0033	0.0004	0.125	0.27310	T	0.32	0.19131	T	0.004	0.12183	B	0.004	0.10090	B	0.042374	0.23849	N	0.494740	1	0.08975	N	1.87	0.49600	L	0.92	0.44461	T	-1.41	0.34795	N	0.124	0.11626	-0.9990	0.30199	T	0.098	0.36574	T	10	0.0057105124	0.00127	T	0.01853	0.40624	T	0.030	0.07022	.	.	0.587237122171	0.58398	0.25256944780878465	0.25170	0.194102247817	0.21745	0.322320342064	0.13772	T	0.010693	0.09633	T	-0.576981	0.00201	T	-0.657917	0.08407	T	0.016554256227503	0.00417	T	0.381962	0.09278	T	0.08758318	0.20401	0.12720059	0.30622	0.06461894	0.13727	0.10046435	0.24020	-4.604	0.32222	T	0.14114231293540486	0.15853	0.070	0.04159	B	.;.	.;.	1.090858	0.14746	11.29	0.97129354977857185	0.32490	0.33404	0.24820	N	AEFBCI	0.165120	0.29158	N	-0.657915838409515	0.17230	0.8848559	-0.689436449381859	0.17224	0.9149039	0.00212681252848113	0.09174	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.31	1.62	0.22817	0.636000	0.24333	1.064000	0.23746	0.691000	0.84096	0.296000	0.25288	0.076000	0.22303	0.010000	0.09038	0.6859:0.1506:0.1635:0.0	5.944	0.18446	327	0.86637	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	876.98	36	chr1	52388507	.	A	G	876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.843e+00;DP=739;ExcessHet=0.0000;FS=1.110;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.95;ReadPosRankSum=0.115;SOR=0.456	GT:AD:DP:GQ:PL	0/1:19,36:55:99:891,0,484	20	0	1	0
chr1	53509180	53509180	C	T	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_147193:exon9:c.G1645A:p.G549S	.	.	421	1079	22	0	0	22	0.0100917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.041	B	0.003	B	0.383	N	1.000	N	0.46	N	2.92	T	-0.937	T	0.009	T	0.065	1.104	9.506	-0.102	-0.103	0.110	3.563	0.032	.	0.0079	0.00279553	0.0126	0.0024	0.0063	0	0.0056	0.0190	0	0.0081	0.0066429	1027	154602	rs146608107	0.0095	0.0095	0.0095	0.0095	0.0108	0.0093	0.0093	0.0106	0.0105	0.0015	0.0037	0.0154	2.549e-05	0.0039	0.0045	0.0108	0.0088	0.0055	0.0071	0.0071	0.0076	0.0066	0.0118	0.0067	0.0066	0.0111	0.0108	0.0019	0.0011	0.0041	0.0147	0.0002	0.0037	0	0.0118	0.0071	0.0048	0.058	0.37750	T	0.628	0.07842	T	0.041	0.21357	B	0.003	0.08700	B	0.383071	0.13362	N	0.676716	1	0.08975	N	1.04	0.26193	L	2.92	0.09915	T	0.07	0.06138	N	0.282	0.31925	-0.9373	0.43041	T	0.009	0.03271	T	10	0.007267922	0.00165	T	.	.	.	0.032	0.07718	.	.	0.27855597813	0.27464	0.20276955884188133	0.20193	0.0512016197912	0.05634	0.325554311275	0.14261	T	0.030078	0.21407	T	-0.630645	0.00095	T	-0.667623	0.07762	T	0.00660134065318229	0.00074	T	0.754824	0.37774	T	0.05044339	0.09115	0.098549224	0.23498	0.05044339	0.09114	0.098549224	0.23497	-3.445	0.15670	T	.	.	0.144	0.31783	B	.;.	.;.	0.399911	0.07713	4.389	0.95170321326512031	0.26327	0.01951	0.05929	N	AEFDBI	0.053811	0.09728	N	-1.08094206964121	0.06994	0.3236274	-1.09975683907676	0.07706	0.3758752	0.0661879459511872	0.15385	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.94	-0.102	0.12951	0.221000	0.17463	-5.399000	0.01733	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.592000	0.31189	0.1721:0.4324:0.0:0.3955	3.563	0.07443	483	0.77230	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	612.98	33	chr1	53509180	.	C	T	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.486;DP=752;ExcessHet=0.0000;FS=1.157;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-5.530e-01;SOR=0.950	GT:AD:DP:GQ:PL	0/1:23,24:47:99:627,0,606	20	0	1	0
chr1	53828075	53828075	C	T	exonic	NDC1	.	nonsynonymous SNV	NDC1:NM_018087:exon4:c.G379A:p.V127M,	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.003	B	0.006	B	0.170	N	1.000	N	0.345	N	0.92	T	-1.066	T	0.043	T	0.117	2.474	14.23	-3.11	-0.422	-0.119	3.848	0.054	0.00874370951065	.	.	7.415e-05	0	0.0003	0	0	7.495e-05	0.0011	0	7.76e-05	12	154602	rs769789336	4.241e-05	4.241e-05	4.356e-05	4.125e-05	0.0003	3.376e-05	3.065e-05	0.0001	9.193e-05	0	0.0002	0	0	0	0.0003	4.227e-05	4.967e-05	0	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0003	2.108e-05	1.526e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0.0068	1.47e-05	0	0	0.19	0.21144	T	0.036	0.52060	D	0.003	0.11197	B	0.006	0.12133	B	0.170034	0.17402	N	0.602886	1	0.81001	D	0.11	0.08516	N	0.92	0.44461	T	-0.51	0.15986	N	0.194	0.21319	-1.0662	0.10269	T	0.043	0.18576	T	10	0.06770873	0.09472	T	0.008744	0.23074	T	0.054	0.15330	0.531	0.63855	0.171220215726	0.16700	0.405029520553448	0.40418	0.124255005918	0.13989	0.280599325895	0.07575	T	0.015962	0.13288	T	-0.478441	0.00755	T	-0.64031	0.09647	T	0.0331872391323925	0.02502	T	0.829317	0.49436	T	0.022456173	0.00909	0.037915815	0.03546	0.022456173	0.00909	0.037915815	0.03546	-5.314	0.40081	T	.	.	0.082	0.08851	B	.	.	1.612624	0.20604	14.83	0.97092229125465568	0.32328	0.41820	0.26742	N	AEFBI	0.041028	0.06184	N	-0.770152354202215	0.14093	0.6992271	-0.679576471390971	0.17471	0.929189	0.0070551910128909	0.11374	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-3.11	0.04975	-0.239000	0.08983	1.109000	0.24140	0.549000	0.26987	0.859000	0.30595	1.000000	0.68203	0.998000	0.85391	0.1748:0.1315:0.5157:0.178	3.848	0.08453	867	0.32089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	619.98	35	chr1	53828075	.	C	T	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=747;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=1.17;SOR=0.722	GT:AD:DP:GQ:PL	0/1:36,28:64:99:634,0,833	20	0	1	0
chr1	62450619	62450619	A	G	exonic	USP1	.	nonsynonymous SNV	USP1:NM_001017415:exon9:c.A1996G:p.I666V	.	.	427	1043	51	1	0	53	0.0247779	.	.	2808940	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.864	N	-0.46	N	2.78	T	-0.933	T	0.009	T	0.031	-0.990	0.276	-2.28	-0.296	0.224	12.722	0.294	0.00157778008887	0.0013	0.00219649	0.0030	0.0002	0.0023	0	0	0.0027	0.0044	0.0091	0.0028395	439	154602	rs141001844	0.0020	0.0020	0.0016	0.0023	0.0295	0.0019	0.0019	0.0259	0.0245	0.0006	0.0023	0.0191	0	9.368e-05	0.0295	0.0009	0.0041	0.0092	0.0024	0.0024	0.0022	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0001	0.0899	0.0025	0.0204	0	0	0.0510	0.0015	0.0057	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	N	0.109127	0.863988	0.28312	N	-1.9	0.00240	N	2.78	0.11298	T	0.06	0.06253	N	0.027	0.00571	-0.9329	0.43710	T	0.009	0.03359	T	10	0.0028123558	0.00044	T	0.001578	0.02523	T	0.294	0.61388	.	.	0.043077524339	0.03247	0.12277180186797472	0.12203	0.0809128222663	0.09109	0.262857377529	0.05235	T	0.077786	0.35738	T	-0.735338	0.00022	T	-0.823065	0.01391	T	0.00143022983137073	0.00014	T	0.530047	0.17581	T	0.046241585	0.07707	0.059083413	0.11029	0.046241585	0.07707	0.059083413	0.11029	-2.613	0.06603	T	.	.	0.049	0.00112	B	.;.	.;.	-1.993868	0.00102	0.002	0.74274434919979704	0.10634	0.11600	0.16740	N	AEFDGBI	0.045861	0.07548	N	-1.10456425471422	0.06562	0.3023988	-0.932802013638722	0.11323	0.5761336	0.833729220619067	0.24739	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	-2.28	0.06438	0.242000	0.17862	-5.550000	0.01678	-2.134000	0.00380	0.612000	0.27847	0.000000	0.08366	0.824000	0.38829	0.2925:0.0:0.7075:0.0	12.722	0.56521	866	0.32446	Ubiquitin specific protease domain;Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1524.98	33	chr1	62450619	.	A	G	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=784;ExcessHet=0.0000;FS=7.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=1.05;SOR=0.725	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1539,0,1368	20	0	1	0
chr1	64673166	64673166	T	C	exonic	CACHD1	.	nonsynonymous SNV	CACHD1:NM_001293274:exon17:c.T1631C:p.I544T	.	.	433	1081	7	1	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.968	D	0.969	D	0.000	D	1.000	D	1.59	L	1.54	T	-0.966	T	0.118	T	0.926	4.591	25.0	5.75	2.185	7.587	16.059	0.605	.	.	0.00259585	0.0011	0.0002	0.0002	0	0	0.0002	0.0011	0.0071	0.001022	158	154602	rs554868581	0.0006	0.0006	0.0003	0.0008	0.0077	0.0005	0.0005	0.0072	0.0070	5.978e-05	6.708e-05	0	2.519e-05	0	0.0017	8.724e-05	0.0006	0.0077	0.0004	0.0004	0.0003	0.0005	0.0089	0.0003	0.0003	0.0067	0.0060	2.438e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0089	0.003	0.68238	D	0.007	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.54	0.30133	T	-3.66	0.70067	D	0.965	0.97535	-0.9659	0.38033	T	0.118	0.41473	T	10	0.011742651	0.00255	T	.	.	.	0.605	0.84452	.	.	0.386522206555	0.38262	0.8364693926502832	0.83606	0.660444123774	0.58870	0.890380740166	0.95307	D	.	.	.	-0.0883598	0.38348	T	0.105428	0.77268	D	0.0737399200489912	0.09167	T	0.942106	0.78341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.89681	P	.;.	.;.	4.690585	0.75159	26.3	0.99847436902836806	0.92750	0.97863	0.77695	D	AEFBI	0.841213	0.75842	D	0.721523553504972	0.81043	7.430808	0.732699645171508	0.84861	8.411538	0.999997010215579	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	7.565000	0.81337	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	16.059	0.80632	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	836.98	39	chr1	64673166	.	T	C	836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=914;ExcessHet=0.0000;FS=6.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-7.710e-01;SOR=1.467	GT:AD:DP:GQ:PL	0/1:43,33:76:99:851,0,1082	20	0	1	0
chr1	66833683	66833683	T	C	exonic	DNAI4	.	nonsynonymous SNV	DNAI4:NM_024763:exon13:c.A1915G:p.T639A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.001	B	0.391	N	1.000	N	-0.405	N	-0.15	T	-0.977	T	0.036	T	0.087	-1.775	0.010	-2.61	-0.131	-0.165	5.577	0.035	0.00607945621685	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1040317148	1.369e-06	1.368e-06	2.724e-06	0	2.992e-05	2.3e-07	9e-08	.	.	2.992e-05	2.241e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.05229	T	0.787	0.04372	T	0.0	0.02946	B	0.001	0.04355	B	0.390784	0.13258	N	0.758088	1	0.08975	N	0.9	0.23182	L	-0.67	0.72458	T	-0.89	0.24026	N	0.159	0.16586	-0.9766	0.35772	T	0.036	0.15640	T	10	0.034965873	0.01725	T	0.006079	0.15905	T	0.035	0.08770	0.272	0.22210	0.264547087235	0.26054	0.16798687278893992	0.16718	0.0955153506399	0.10790	0.313850969076	0.12489	T	0.002409	0.01807	T	-0.246119	0.14577	T	-0.59131	0.13552	T	0.0308567040396107	0.02123	T	0.411059	0.11777	T	0.043253202	0.06709	0.036342908	0.03063	0.043253202	0.06708	0.036342908	0.03062	-3.674	0.18935	T	.	.	0.058	0.01197	B	.;.	.;.	0.147818	0.05405	1.882	0.20233989032977334	0.00719	0.03920	0.09307	N	AEFBI	0.083876	0.16995	N	-1.48465045328366	0.01958	0.08596989	-1.4530902083725	0.02742	0.1266876	0.00464356561167605	0.10654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	-2.61	0.05811	-0.159000	0.10043	-0.336000	0.09852	-0.212000	0.08331	0.001000	0.13787	0.000000	0.08366	0.032000	0.13371	0.2205:0.381:0.0:0.3985	5.577	0.16513	651	0.62880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1139.98	34	chr1	66833683	.	T	C	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-4.840e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1154,0,1023	20	0	1	0
chr1	67200841	67200841	C	T	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon5:c.C596T:p.A199V,	.	.	421	1090	11	0	0	11	0.00502054	.	.	1067547	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.103	B	0.037	B	0.901	N	1.000	N	0.665	N	3.07	T	-0.889	T	0.005	T	0.111	-0.788	0.709	1.8	-0.128	0.359	6.105	0.037	0.0078103055012	0.0005	0.000199681	0.0008	0	0.0008	0	0	0.0011	0.0033	0.0008	0.000718	111	154602	rs143130647	0.0006	0.0006	0.0005	0.0006	0.0028	0.0005	0.0005	0.0017	0.0014	0.0002	0.0011	0.0023	0	5.616e-05	0.0028	0.0005	0.0009	0.0006	0.0005	0.0005	0.0006	0.0005	0.0008	0.0005	0.0004	0.0006	0.0005	0.0001	0	0.0007	0.0032	0	9.432e-05	0	0.0007	0.0005	0.0008	0.432	0.09486	T	0.529	0.10138	T	0.103	0.25884	B	0.037	0.23121	B	0.901311	0.07357	N	1.042350	1	0.08975	N	0.615	0.15706	N	3.07	0.08547	T	-1.01	0.26639	N	0.055	0.02658	-0.8894	0.48986	T	0.005	0.01651	T	10	0.02271396	0.00575	T	0.00781	0.20720	T	0.037	0.09474	.	.	0.151104730317	0.14643	0.23140051723454602	0.23055	0.179236820395	0.20168	0.27769869566	0.07174	T	0.086962	0.37838	T	-0.641936	0.00081	T	-0.745314	0.03671	T	0.000857450009789318	0.00008	T	0.523848	0.17156	T	0.061743587	0.12821	0.035519443	0.02818	0.061743587	0.12821	0.035519443	0.02818	-5.435	0.41255	T	.	.	0.107	0.20157	B	.	.	0.553945	0.09227	6.008	0.62537472968172381	0.06988	0.07293	0.13315	N	AEFHCI	0.065214	0.12709	N	-1.51759799402526	0.01733	0.0759072	-1.45289542498364	0.02744	0.1267707	2.36499266058486E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.95	1.8	0.24069	0.372000	0.20199	0.806000	0.21705	-1.008000	0.01777	0.202000	0.24332	0.261000	0.23984	0.023000	0.12082	0.2598:0.5763:0.0:0.1639	6.105	0.19289	603	0.67726	Fibronectin type III	.	.	.	.	.	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	0.02381	1274.98	42	chr1	67200841	.	C	T	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=877;ExcessHet=0.0000;FS=2.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=2.04;SOR=0.463	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1289,0,1252	20	0	1	0
chr1	74475582	74475582	A	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon3:c.T1037A:p.L346H	.	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.382	N	1.000	D	.	.	0.78	T	-0.986	T	0.090	T	0.235	3.175	16.62	2.04	0.394	0.665	4.113	0.032	.	.	0.0133786	0.0040	0.0414	0.0101	0	0	0.0032	0	0.0004	0.0012096	187	154602	rs45557838	0.0024	0.0021	0.0027	0.0021	0.0282	0.0022	0.0022	0.0260	0.0252	0.0282	0.0047	0.0068	0	2.084e-05	0.0113	0.0010	0.0057	0.0006	0.0096	0.0096	0.0101	0.0091	0.0292	0.0092	0.0090	0.0278	0.0273	0.0292	0	0.0082	0.0058	0	0	0.0034	0.0012	0.0095	0	0.0	0.91255	D	0.07	0.43721	T	.	.	.	.	.	.	0.382268	0.13373	N	0.648881	1	0.81001	D	.	.	.	0.71	0.51228	T	-0.38	0.13418	N	0.195	0.21449	-0.9857	0.33663	T	0.090	0.34601	T	7	0.0037481189	0.00070	T	.	.	.	0.032	0.07718	.	.	0.580897126437	0.57760	0.3412029103263562	0.34033	.	.	.	.	.	0.006122	0.05559	T	-0.481311	0.00727	T	-0.440462	0.28757	T	0.0862041396811646	0.10761	T	0.349965	0.07784	T	0.10629314	0.25134	0.17097598	0.39245	0.10629314	0.25133	0.17097598	0.39245	-4.879	0.35498	T	.	.	0.132	0.28406	B	.	.	2.608816	0.33880	19.47	0.97660300965466684	0.35195	0.57992	0.30523	D	AEFI	0.105083	0.21006	N	0.0462076699306813	0.43969	2.679543	0.0700664199592395	0.43053	2.615025	2.11913784501737E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.04	0.25787	0.664000	0.24749	1.211000	0.24907	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.6827:0.0:0.1651:0.1522	4.113	0.09539	768	0.49510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2693.98	147	chr1	74475582	.	A	T	2693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.400e-01;DP=3814;ExcessHet=0.0000;FS=1.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.383;SOR=0.806	GT:AD:DP:GQ:PL	0/1:114,110:224:99:2708,0,2843	20	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,19:77:99:.:.:155,0,501	1	0	17	3
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,127,105,0:232:99:1|0:86580213_TCCTACA_T:9396,4345,4952,5058,0,4746,9487,4884,5144,9941:86580213	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,127,105,0:232:99:1|0:86580213_TCCTACA_T:9396,4345,4952,5058,0,4746,9487,4884,5144,9941:86580213	0	12	6	0
chr1	92247981	92247981	T	A	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon16:c.A1440T:p.L480F	Glomuvenous malformations, Autosomal dominant	.	157	1362	3	0	0	3	0.00110011	.	.	864824	Glomuvenous_malformation	MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.627	P	0.425	B	0.001	N	0.889	D	1.61	L	0.8	T	-1.075	T	0.061	T	0.415	3.776	19.17	1.26	-0.033	-0.049	3.842	0.053	0.00949627575811	0.0002	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0013	0.0002264	35	154602	rs150536401	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	0	0	0	0	3.908e-05	0.0008	0.0001	0.0002	0.0010	7.222e-05	7.217e-05	6.424e-05	8.055e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.985e-05	0	0	6.54e-05	0	0	9.409e-05	0	8.82e-05	0	0.0006	0.033	0.44358	D	0.029	0.54541	D	0.627	0.40110	P	0.425	0.45259	B	0.001407	0.39109	N	0.251167	0.889264	0.35916	D	2.015	0.55033	M	0.8	0.48769	T	-0.99	0.26200	N	0.341	0.38232	-1.0751	0.08328	T	0.061	0.25599	T	10	0.05642146	0.06321	T	0.009496	0.24878	T	0.053	0.14996	0.415	0.45380	0.631849437455	0.62883	0.5118664728549638	0.51108	0.169519359569	0.19104	0.559084832668	0.47139	T	0.006319	0.10560	T	-0.385304	0.02883	T	-0.371791	0.36680	T	0.130949617230841	0.15470	T	0.761624	0.42389	T	0.11886572	0.27999	0.05891047	0.10967	0.11886572	0.27999	0.05891047	0.10966	-5.414	0.41054	T	0.2279181311921663	0.30819	0.131	0.29088	B	.;.	.;.	2.568324	0.33279	19.29	0.99840038572329759	0.92057	0.71282	0.34946	D	AEFBI	0.129855	0.24818	N	-0.165870559292271	0.34561	1.974228	-0.097800450025208	0.35481	2.053267	0.00188339298011591	0.08975	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.17	1.26	0.20534	0.073000	0.14504	1.131000	0.24326	0.661000	0.55757	0.994000	0.38300	1.000000	0.68203	0.997000	0.79791	0.2601:0.3204:0.0:0.4195	3.842	0.08427	667	0.61242	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1116.98	33	chr1	92247981	.	T	A	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-5.760e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1131,0,1040	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	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	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,18:93:99:0|1:99884396_T_C:307,0,2781:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,18:93:99:0|1:99884396_T_C:300,0,2845:99884396	6	0	15	0
chr1	100484348	100484348	G	A	exonic	CDC14A	.	nonsynonymous SNV	CDC14A:NM_001319212:exon10:c.G155A:p.R52Q	Deafness, autosomal recessive 105, Autosomal recessive	YES	438	1058	26	0	0	26	0.0121382	.	.	655019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.064	B	0.011	B	0.013	N	1.000	D	0.52	N	3.18	T	-1.008	T	0.006	T	0.336	0.577	7.114	5.77	2.729	2.551	10.909	0.067	.	0.0010	0.00279553	0.0024	0.0002	0.0004	0	0.0002	0.0019	0.0034	0.0089	0.0020828	322	154602	rs28364897	0.0014	0.0015	0.0012	0.0017	0.0112	0.0014	0.0014	0.0090	0.0082	0.0003	0.0005	0.0178	7.699e-05	7.535e-05	0.0112	0.0006	0.0032	0.0079	0.0013	0.0013	0.0013	0.0012	0.0079	0.0011	0.0011	0.0059	0.0052	9.638e-05	0	0.0003	0.0199	0	9.463e-05	0.0034	0.0010	0.0024	0.0079	0.588	0.05844	T	0.764	0.11691	T	0.007	0.14655	B	0.011	0.15521	B	0.012910	0.29014	N	0.417620	0.799534	0.81001	D	0.495	0.13372	N	2.99	0.09262	T	0.31	0.04022	N	0.086	0.06322	-1.0075	0.27696	T	0.006	0.02093	T	10	0.0040360093	0.00078	T	.	.	.	0.067	0.19503	.	.	0.610390267789	0.60725	0.3191335331216652	0.31826	0.172812368073	0.19455	0.393316864967	0.24136	T	0.012179	0.10748	T	-0.514471	0.00473	T	-0.507354	0.21588	T	0.0158800411563387	0.00374	T	0.929307	0.73951	D	0.0688873	0.15046	0.04700738	0.06676	0.07052366	0.15541	0.05272089	0.08742	-6.47	0.52410	T	0.08458565177691202	0.04682	0.089	0.11989	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.299508	0.45283	22.1	0.81189413631035934	0.13563	0.84773	0.43862	D	AEFBI	0.221071	0.34575	N	-0.281820392719237	0.29850	1.659077	-0.0366804278245337	0.38073	2.237921	0.988745731712769	0.31614	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.919000	0.48534	6.661000	0.56247	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0851:0.0:0.9148:0.0	10.909	0.46307	248	0.90287	.;.;.;.;.;.;.	.	.	.	.	.	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	0.07143	3486.68	44	chr1	100484348	.	G	A	3486.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.06;DP=975;ExcessHet=0.3300;FS=1.991;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.214;SOR=0.820	GT:AD:DP:GQ:PL	0/1:41,31:72:99:849,0,957	18	0	3	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/2:0,18,20:38:99:1484,777,762,718,0,737	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/2:0,18,20:38:99:1484,777,762,718,0,737	1	11	8	0
chr1	109268900	109268900	G	A	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon19:c.G6523A:p.D2175N,	.	.	428	1050	44	0	0	44	0.0205224	.	.	695964	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.164	B	0.093	B	.	.	0.742	D	1.525	L	2.83	T	-1.067	T	0.014	T	0.025	2.356	13.84	4.36	2.430	3.180	10.689	0.085	.	0.0008	0.00499201	0.0054	0.0004	0.0010	0	0.0003	0.0018	0.0123	0.0316	0.0046118	713	154602	rs148006855	0.0033	0.0033	0.0024	0.0043	0.0319	0.0033	0.0032	0.0309	0.0305	0.0002	0.0008	0.0021	7.573e-05	0.0005	0.0155	0.0016	0.0030	0.0319	0.0020	0.0020	0.0016	0.0025	0.0325	0.0018	0.0018	0.0284	0.0268	0.0002	0	0.0010	0.0014	0	0.0004	0.0170	0.0016	0.0019	0.0325	0.048	0.40068	D	0.07	0.43721	T	0.164	0.28467	B	0.093	0.30104	B	.	.	.	.	0.741849	0.33831	D	1.57	0.39626	L	2.83	0.10771	T	-2.44	0.53420	N	0.298	0.33687	-1.0674	0.09994	T	0.014	0.05705	T	9	0.0076488853	0.00174	T	.	.	.	0.085	0.24743	.	.	0.439152036679	0.43537	0.4631125077265832	0.46230	0.490684585981	0.47779	0.512682080269	0.40597	T	0.136953	0.46962	T	-0.671194	0.00054	T	-0.713215	0.05130	T	0.0196966171121101	0.00671	T	0.867113	0.56785	D	0.14362688	0.33002	0.14928035	0.35252	0.14362688	0.33001	0.14928035	0.35251	-7.947	0.60708	D	0.6301938798091679	0.69948	0.113	0.22135	B	.	.	4.028730	0.59562	24.1	0.99688707572020374	0.79775	0.88399	0.48309	D	AEFBI	0.233094	0.35607	N	0.0172448352837668	0.42640	2.572948	0.13798531972065	0.46509	2.895725	0.990184124769994	0.32067	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.36	4.36	0.51643	3.070000	0.49732	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0898:0.0:0.9102:0.0	10.689	0.45056	769	0.49307	GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1982.98	39	chr1	109268900	.	G	A	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=882;ExcessHet=0.0000;FS=13.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-3.100e-01;SOR=1.063	GT:AD:DP:GQ:PL	0/1:99,73:172:99:1997,0,2539	20	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.375	B	0.25	B	0.024	N	0.989	D	-0.01	N	4.38	T	-0.907	T	0.002	T	0.107	1.805	12.00	1.09	0.047	0.976	9.065	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1579.24	62	chr1	109508616	.	G	C	1579.24	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.065e+00;DP=1797;ExcessHet=2.5830;FS=184.263;InbreedingCoeff=-0.2692;MLEAC=8;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.17;SOR=8.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,27:101:99:.:.:206,0,1817	11	0	7	3
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.63	P	0.217	B	0.000	D	0.643	D	0.49	N	2.69	T	-1.008	T	0.007	T	0.306	-1.899	0.008	-0.268	-0.075	-0.116	11.346	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	654.71	83	chr1	113590590	.	G	C	654.71	.	AC=3;AF=0.250;AN=12;BaseQRankSum=0.109;DP=1286;ExcessHet=0.3300;FS=262.934;InbreedingCoeff=-0.3263;MLEAC=5;MLEAF=0.417;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=1.54;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,30:114:99:0|1:113590590_G_C:268,0,2025:113590590	3	0	3	15
chr1	113838292	113838292	G	T	exonic	PTPN22	.	nonsynonymous SNV	PTPN22:NM_012411:exon11:c.C943A:p.H315N	.	.	428	1084	10	0	0	10	0.00459137	.	.	695997	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.933	P	0.674	P	0.377	N	1.000	N	1.995	M	1.4	T	-1.044	T	0.063	T	0.189	0.508	6.752	-0.861	-0.190	0.110	9.733	0.057	0.00732149072793	0.0025	0.00139776	0.0023	0.0006	0.0003	0	0.0027	0.0026	0.0011	0.0047	0.0022186	343	154602	rs72650671	0.0025	0.0025	0.0025	0.0025	0.0048	0.0024	0.0024	0.0044	0.0042	0.0001	0.0012	0.0014	0	0.0022	0.0028	0.0026	0.0016	0.0048	0.0021	0.0021	0.0021	0.0021	0.0049	0.0019	0.0018	0.0040	0.0037	0.0005	0	0.0049	0.0012	0.0002	0.0009	0.0034	0.0027	0.0033	0.0029	0.015	0.59928	D	0.071	0.52727	T	0.215	0.30128	B	0.094	0.30180	B	0.377395	0.13439	N	0.712899	1	0.08975	N	.	.	.	1.4	0.33630	T	-2.82	0.64478	D	0.273	0.54234	-1.0440	0.16118	T	0.063	0.26172	T	10	0.0070296526	0.00160	T	0.007321	0.19415	T	0.057	0.16321	.	.	0.323342291347	0.31936	0.11799723273816666	0.11726	0.166020818793	0.18730	0.330212056637	0.14966	T	0.079906	0.36238	T	-0.538925	0.00340	T	-0.546227	0.17689	T	0.077370605598392	0.09647	T	0.816218	0.47186	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19194	B	.;.;.;.;.	.;.;.;.;.	0.118314	0.05162	1.683	0.77112204636852333	0.11741	0.16025	0.19195	N	AEFBHCI	0.090627	0.18363	N	-0.738853295187863	0.14937	0.7484553	-0.879043090686477	0.12591	0.6485653	0.00174702309514661	0.08839	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.82	-0.861	0.10136	0.197000	0.16999	-0.259000	0.10442	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.6463:0.0:0.3537:0.0	9.733	0.39538	658	0.62094	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1298.98	33	chr1	113838292	.	G	T	1298.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.134e+00;DP=772;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-4.660e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1313,0,1161	20	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:98,26:139:23:23,0,1505	0	0	21	0
chr1	118885216	118885216	C	T	exonic	TBX15	.	nonsynonymous SNV	TBX15:NM_001330677:exon8:c.G1325A:p.R442K	Cousin syndrome, Autosomal recessive	.	0	1511	10	1	0	12	0.00395517	.	.	273931	not_specified|Pelviscapular_dysplasia|not_provided|TBX15-related_disorder	MedGen:CN169374|MONDO:MONDO:0009845,MedGen:C1850040,OMIM:260660,Orphanet:93333|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.35	T	0.996	D	0.986	D	0.000	D	1.000	D	1.59	L	-1.25	T	0.139	D	0.623	D	0.806	4.007	20.5	4.4	1.483	6.952	14.056	0.627	0.0557816806839	0.0005	0.000798722	0.0009	0	0.0006	0	0	0.0011	0.0011	0.0019	0.0008667	134	154602	rs144291418	0.0006	0.0006	0.0005	0.0007	0.0050	0.0006	0.0006	0.0036	0.0031	0.0006	0.0008	0.0050	0	3.744e-05	0.0050	0.0004	0.0011	0.0024	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0005	0.0015	0.0013	0.0001	0	0.0021	0.0037	0	0	0.0034	0.0006	0.0014	0.0017	0.046	0.45393	D	0.459	0.17804	T	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.093057	0.999994	0.58761	D	2.445	0.70938	M	-2.32	0.87830	D	-0.7	0.48020	N	0.523	0.57263	0.139	0.84870	D	0.623	0.86718	D	10	0.014314055	0.00301	T	0.055782	0.66363	D	0.627	0.85615	.	.	0.783679178932	0.78168	0.45277565252463137	0.45195	0.903446232335	0.70738	0.740978479385	0.73118	T	0.059485	0.45965	T	-0.0622602	0.42553	T	0.131624	0.78999	D	0.0803354235118167	0.10030	T	0.929107	0.73907	D	0.37025714	0.58604	0.3056502	0.56591	0.37025714	0.58604	0.3056502	0.56590	-4.643	0.32707	T	.	.	0.325	0.64256	B	.;.;.	.;.;.	4.918004	0.80978	27.4	0.995189730549075	0.69100	0.97011	0.72175	D	AEFBI	0.689964	0.65046	D	0.546108044653046	0.69845	5.415326	0.540043900961922	0.70706	5.545004	0.962029808200898	0.28593	0.487112	0.14033	0	0.546412	0.12157	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	4.4	0.52402	7.206000	0.77400	7.676000	0.65050	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9278:0.0:0.0722	14.056	0.64295	831	0.39019	.;.;.	.	.	.	.	.	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	0.02381	1533.98	37	chr1	118885216	.	C	T	1533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.877e+00;DP=944;ExcessHet=0.0000;FS=5.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-4.100e-02;SOR=0.360	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1548,0,1869	20	0	1	0
chr1	119623675	119623675	-	CCAGGCTGGCGGCGGCAGCGGCCTCAG	exonic	ZNF697	.	nonframeshift insertion	ZNF697:NM_001080470:exon3:c.667_668insCTGAGGCCGCTGCCGCCGCCAGCCTGG:p.L222_E223insAEAAAAASL,	.	.	439	1065	17	1	0	19	0.00884132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0047	0.0244	0	0	0.0026	0	0.0007	0.0006916	18	26028	rs747219814	0.0061	0.0052	0.0063	0.0059	0.0173	0.0060	0.0059	0.0138	0.0125	0.0008	0.0043	0.0081	0	0.0016	0.0173	0.0068	0.0065	0.0010	0.0046	0.0046	0.0049	0.0043	0.0068	0.0043	0.0042	0.0063	0.0060	0.0012	0.0172	0.0068	0.0065	0	0.0013	0.0214	0.0068	0.0078	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	287.94	27	chr1	119623675	.	T	TCCAGGCTGGCGGCGGCAGCGGCCTCAG	287.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=618;ExcessHet=0.0000;FS=4.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-1.614e+00;SOR=1.981	GT:AD:DP:GQ:PL	0/1:11,8:19:99:302,0,438	20	0	1	0
chr1	143973020	143973020	A	G	exonic	FAM72C	.	nonsynonymous SNV	FAM72C:NM_001346067:exon2:c.T92C:p.V31A,	.	.	713	808	1	0	0	1	0.000618429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	105.98	8	chr1	143973020	.	A	G	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=585;ExcessHet=0.0000;FS=3.424;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=24.00;MQRankSum=0.00;QD=8.83;ReadPosRankSum=-7.730e-01;SOR=0.055	GT:AD:DP:GQ:PL	0/1:6,6:12:99:120,0,137	20	0	1	0
chr1	144914735	144914735	T	-	exonic	SRGAP2B	.	frameshift deletion	SRGAP2B:NM_001385228:exon4:c.173delA:p.Q58Rfs*6	.	.	639	880	3	0	0	3	0.00170164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486906090	0.0001	9.223e-05	0.0001	0.0001	0.0015	8.28e-05	7.367e-05	0.0004	0.0002	8.12e-05	5.289e-05	0	0	2.319e-05	0.0015	0.0002	7.716e-05	0	4.348e-05	5.295e-05	4.184e-05	4.524e-05	9.533e-05	1.861e-05	1.225e-05	4.117e-05	2.742e-05	0	0	0	0	0	0	0	9.533e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	138.94	13	chr1	144914734	.	CT	C	138.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=437;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=24.51;MQRankSum=0.030;QD=4.63;ReadPosRankSum=0.364;SOR=0.430	GT:AD:DP:GQ:PL	0/1:24,6:30:99:153,0,840	20	0	1	0
chr1	146964967	146964967	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon11:c.G641A:p.S214N,	.	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.013	T	0.022	T	.	0.584	7.152	-1.92	-1.820	-3.207	2.594	0.023	0.000777120838498	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587765598	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0061	0.0059	0	0.0002	0	0	1.873e-05	0.0039	0.0001	0.0006	0.0065	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.503e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0050	.	.	.	0.097	0.39190	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.174	0.20262	-0.9673	0.37754	T	0.012	0.04605	T	9	0.011872321	0.00258	T	7.77E-4	0.00588	T	.	.	0.483	0.56462	0.0482279557977	0.04254	0.009089681465782299	0.00871	.	.	.	.	.	.	.	.	-0.289581	0.09678	T	-0.653739	0.08694	T	0.0666254124198251	0.08169	T	0.930707	0.76258	D	0.039577477	0.05492	0.08988931	0.21048	0.039577477	0.05492	0.08988931	0.21047	-9.486	0.70772	D	.	.	0.200	0.42621	B	.;.;.;.;.	.;.;.;.;.	0.613225	0.09819	6.581	0.81185679621847973	0.13561	0.00094	0.00618	N	AEFI	0.024869	0.01609	N	-0.983354325499337	0.08958	0.4220871	-1.25323829152858	0.05083	0.2413656	5.90869656841733E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.08	-2.15	0.06705	-0.404000	0.07267	-9.600000	0.00800	0.272000	0.18543	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	0.192:0.0:0.326:0.482	2.537	0.04430	768	0.49510	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3795.11	51	chr1	146964967	.	G	A	3795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.934;DP=1089;ExcessHet=0.1072;FS=1.355;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.60;MQRankSum=1.43;QD=12.16;ReadPosRankSum=1.12;SOR=0.800	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1635,0,1742	19	0	2	0
chr1	148482828	148482828	A	G	exonic	PPIAL4G	.	nonsynonymous SNV	PPIAL4G:NM_001123068:exon1:c.T425C:p.M142T,	.	.	460	1058	4	0	0	4	0.00188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.627	P	0.471	P	0.000	U	0.995	N	3.14	M	0.86	T	-0.967	T	0.112	T	0.631	1.355	10.45	0.523	0.493	6.277	5.396	0.241	.	.	.	0.0085	0.0008	0.0005	0.0002	0	9.674e-05	0.0047	0.0576	3.84e-05	1	26028	rs1434005006	0.0041	0.0042	0.0023	0.0058	0.0605	0.0040	0.0039	0.0591	0.0585	0.0008	0.0003	4.06e-05	0.0002	4.946e-05	0.0021	0.0002	0.0041	0.0605	0.0023	0.0027	0.0014	0.0033	0.0675	0.0021	0.0020	0.0613	0.0589	0.0006	0	0.0003	0	0.0002	0	0	0.0001	0.0005	0.0675	0.024	0.47745	D	0.041	0.50514	D	.	.	.	.	.	.	0.000000	0.84330	U	0.000000	0.992212	0.23917	N	.	.	.	0.86	0.46777	T	-4.05	0.74504	D	0.62	0.63544	-1.0402	0.17253	T	0.057	0.23942	T	7	0.023180366	0.00599	T	0.001176	0.01484	T	.	.	.	.	0.143184338766	0.13958	0.775643807566539	0.77514	.	.	0.696464717388	0.66634	T	0.038105	0.24721	T	-0.0465463	0.44969	T	-0.304637	0.44233	T	0.823889195919037	0.48063	D	0.340966	0.07383	T	0.3696158	0.58557	0.40903258	0.65204	0.3696158	0.58557	0.40903258	0.65204	-7.782	0.59574	D	.	.	0.156	0.34602	B	.	.	1.874707	0.23810	16.16	0.52689133183973169	0.04796	0.78012	0.38428	D	AEFI	0.330855	0.43077	N	-0.373197041573718	0.26428	1.442239	-0.564576143488025	0.20419	1.100055	1.0494678536686E-4	0.05123	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	6.559000	0.73842	2.070000	0.30439	0.261000	0.18407	1.000000	0.71638	0.996000	0.32793	0.161000	0.20682	0.9996:0.0:4.0E-4:0.0	4.622	0.11842	.	.	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	697.46	32	chr1	148482828	.	A	G	697.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.917e+00;DP=599;ExcessHet=0.1072;FS=2.175;InbreedingCoeff=-0.0584;MLEAC=2;MLEAF=0.048;MQ=28.92;MQRankSum=0.566;QD=10.11;ReadPosRankSum=1.14;SOR=1.014	GT:AD:DP:GQ:PL	0/1:23,15:38:99:326,0,671	19	0	2	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:321,110:431:99:2028,0,8216	1	0	20	0
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C	.	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.561	P	0.03	B	.	.	0.994	N	.	.	4.04	T	-0.891	T	0.003	T	0.617	-0.096	3.531	0.521	-0.507	0.085	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1244.68	287	chr1	149080125	.	A	C	1244.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.343e+00;DP=3650;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.29;MQRankSum=-1.785e+00;QD=1.65;ReadPosRankSum=-5.750e-01;SOR=0.704	GT:AD:DP:GQ:PL	0/1:184,40:224:99:494,0,5431	18	0	3	0
chr1	152112079	152112079	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G1138A:p.E380K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.663	P	0.067	B	.	.	1.000	N	0	N	3.36	T	-0.984	T	0.002	T	0.307	1.395	10.60	3.47	1.820	0.303	6.619	0.032	0.0024857678813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.56192	D	0.663	0.40973	P	0.067	0.27542	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.36	0.05918	T	-0.9	0.24244	N	0.289	0.32701	-0.9836	0.34164	T	0.002	0.00769	T	9	0.108606875	0.20226	T	0.002486	0.04925	T	0.032	0.07718	0.351	0.34922	0.40218521252	0.39833	0.34823506153297556	0.34737	0.298544427098	0.32233	0.456000864506	0.32764	T	0.002284	0.01681	T	-0.231562	0.16443	T	-0.570399	0.15413	T	0.190426550853689	0.19870	T	0.884611	0.60805	D	0.09186258	0.21538	0.18858026	0.42156	0.09186258	0.21537	0.18858026	0.42155	-10.296	0.75665	D	.	.	0.814	0.77921	P	.;.	.;.	2.038952	0.25915	16.93	0.92757931048686415	0.22267	0.05929	0.11884	N	AEFGBCI	0.029083	0.02681	N	-0.762402736010635	0.14298	0.7111185	-0.786993206038604	0.14814	0.7760162	0.996164057134624	0.34566	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.47	3.47	0.38831	0.015000	0.13250	.	.	0.499000	0.22661	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.8668:0.0:0.1332	6.619	0.21985	480	0.77422	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	421.98	38	chr1	152112079	.	C	T	421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=639;ExcessHet=0.0000;FS=1.173;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=58.42;MQRankSum=-1.669e+00;QD=18.35;ReadPosRankSum=0.315;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,14:23:99:.:.:436,0,199	20	0	1	0
chr1	152213599	152213599	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G8030C:p.R2677P,	.	.	475	1041	5	1	0	7	0.00335089	.	.	2809274	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.621	P	0.124	B	.	.	1.000	N	0.895	L	4.66	T	-0.934	T	0.001	T	0.366	0.111	4.595	-0.931	-0.305	-1.386	3.795	0.046	0.00213043663647	.	0.00119808	0.0009	0	0.0008	0	0	0.0009	0	0.0027	0.0004334	67	154602	rs201827906	0.0003	0.0003	0.0003	0.0004	0.0047	0.0003	0.0003	0.0030	0.0025	0	9.737e-05	0.0075	0	0	0.0047	4.167e-05	0.0007	0.0019	0.0003	0.0002	0.0003	0.0002	0.0022	0.0002	0.0001	0.0007	0.0004	0	0	0	0.0069	0	0	0	6.081e-05	0.0013	0.0022	0.041	0.41915	D	0.053	0.47336	T	0.621	0.39935	P	0.124	0.32546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.66	0.01756	T	-1.84	0.43149	N	0.247	0.27910	-0.9337	0.43590	T	0.001	0.00408	T	9	0.005998373	0.00135	T	0.00213	0.03962	T	0.046	0.12618	0.295	0.25881	0.289098819767	0.28531	0.03749989017600015	0.03695	.	.	0.533039569855	0.43463	T	0.018844	0.15118	T	-0.572816	0.00213	T	-0.602063	0.12638	T	0.0252230997145705	0.01302	T	0.266473	0.04381	T	0.15334024	0.34762	0.14361298	0.34125	0.15334024	0.34762	0.14361298	0.34124	-10.832	0.78728	D	.	.	0.202	0.42706	B	.	.	0.430164	0.08007	4.723	0.4629172893559268	0.03697	0.00674	0.02901	N	AEFI	0.048143	0.08184	N	-1.14049914827462	0.05938	0.2720469	-1.27641881328538	0.04751	0.2248438	1.27178030711526E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.06	-0.931	0.09907	-1.248000	0.03001	.	.	-1.378000	0.01162	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.1891:0.576	3.795	0.08252	567	0.70732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1819.05	33	chr1	152213599	.	C	G	1819.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=1283;ExcessHet=0.0000;FS=1.754;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.024;MQ=37.53;MQRankSum=0.673;QD=9.14;ReadPosRankSum=1.83;SOR=0.848	GT:AD:DP:GQ:PL	0/1:110,89:199:99:1833,0,2301	20	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:236,0,49:285:99:0|1:152214821_T_A:1293,2003,11806,0,9802,9655:152214821	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:236,0,49:285:99:0|1:152214821_T_A:1293,2003,11806,0,9802,9655:152214821	8	0	3	0
chr1	152218606	152218606	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3023C:p.S1008T,	.	.	412	1101	9	0	0	9	0.00407056	.	.	2809285	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.963	D	0.528	P	.	.	1.000	N	0.55	N	4.71	T	-0.843	T	0.002	T	0.079	1.051	9.293	3.45	1.957	1.099	10.728	0.087	0.00110861180852	.	0.000998403	0.0019	0.0002	0.0007	0	0.0009	0.0015	0.0011	0.0070	0.0016688	258	154602	rs139947063	0.0014	0.0014	0.0013	0.0016	0.0074	0.0014	0.0014	0.0069	0.0067	0.0002	0.0003	0.0042	2.52e-05	0.0014	0.0023	0.0010	0.0016	0.0074	0.0009	0.0009	0.0009	0.0010	0.0050	0.0008	0.0007	0.0034	0.0029	0.0001	0	6.645e-05	0.0032	0	0.0017	0	0.0011	0.0010	0.0050	0.555	0.06482	T	0.639	0.06992	T	0.963	0.55692	D	0.528	0.48482	P	.	.	.	.	1	0.08975	N	2.095	0.58118	M	4.71	0.01655	T	-0.73	0.20576	N	0.079	0.05414	-0.8425	0.52480	T	0.002	0.00738	T	9	0.006100327	0.00137	T	0.001109	0.01336	T	0.087	0.25287	.	.	0.500488203797	0.49686	0.006738800630482025	0.00640	.	.	0.592358231544	0.51826	T	0.012489	0.10966	T	-0.70872	0.00032	T	-0.786519	0.02262	T	0.0190158044986066	0.00610	T	0.163384	0.01486	T	0.051460028	0.09453	0.059344452	0.11122	0.051460028	0.09452	0.059344452	0.11121	-8.913	0.67135	D	.	.	0.164	0.36113	B	.	.	0.115534	0.05141	1.665	0.8014458234562376	0.13065	0.04896	0.10643	N	AEFBI	0.045548	0.07462	N	-0.430149653943294	0.24418	1.318314	-0.540379278260403	0.21062	1.137624	0.00125497324814373	0.08381	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	-1.112000	0.03410	.	.	-0.619000	0.04561	0.000000	0.06391	0.003000	0.18671	0.002000	0.04165	0.0:1.0:0.0:0.0	10.728	0.45277	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4071.98	273	chr1	152218606	.	C	G	4071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.470e-01;DP=4460;ExcessHet=0.0000;FS=0.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.51;MQRankSum=0.694;QD=11.10;ReadPosRankSum=-1.377e+00;SOR=0.668	GT:AD:DP:GQ:PL	0/1:207,160:367:99:4086,0,5451	20	0	1	0
chr1	152304708	152304708	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A10178G:p.H3393R,	Ichthyosis vulgaris, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	3398028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.995	D	0.992	D	.	.	1.000	N	2.565	M	5.69	T	-0.921	T	0.003	T	0.268	1.156	9.709	-0.074	-0.024	0.165	3.188	0.040	0.00126279024865	0.0005	0.000399361	0.0013	0.0002	0.0003	0	0.0008	0.0010	0.0022	0.0045	0.0010414	161	154602	rs146234375	0.0010	0.0010	0.0009	0.0011	0.0045	0.0010	0.0010	0.0041	0.0040	0.0002	0.0002	0	2.519e-05	0.0014	0.0010	0.0009	0.0011	0.0045	0.0006	0.0006	0.0005	0.0006	0.0030	0.0005	0.0004	0.0018	0.0014	0.0001	0	6.562e-05	0	0	0.0014	0	0.0007	0.0005	0.0030	0.0	0.91255	D	.	.	.	0.995	0.67487	D	0.992	0.80445	D	.	.	.	.	1	0.08975	N	2.93	0.84523	M	5.69	0.00751	T	-1.0	0.26422	N	0.263	0.29774	-0.9213	0.45376	T	0.003	0.00961	T	9	0.008478224	0.00192	T	0.001263	0.01708	T	0.040	0.10527	.	.	0.240491677333	0.23641	0.02466903177757091	0.02417	.	.	0.303413420916	0.10912	T	0.042071	0.26065	T	-0.535603	0.00356	T	-0.541866	0.18113	T	0.0571198715530798	0.06708	T	0.449655	0.12671	T	0.11637667	0.27450	0.12726234	0.30638	0.11637667	0.27449	0.12726234	0.30637	-6.799	0.52552	T	.	.	0.142	0.31228	B	.	.	1.427122	0.18448	13.74	0.78699132338450051	0.12414	0.01027	0.03855	N	AEFBI	0.027410	0.02233	N	-0.418803775408269	0.24810	1.342288	-0.727992129375882	0.16265	0.8596216	1.15605584978908E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.54	-0.0744	0.13064	-0.545000	0.06159	.	.	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.144:0.2438:0.6122	3.188	0.06211	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	4647.98	33	chr1	152304708	.	T	C	4647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=4602;ExcessHet=0.0000;FS=4.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.20;MQRankSum=-9.130e-01;QD=11.20;ReadPosRankSum=-7.610e-01;SOR=1.011	GT:AD:DP:GQ:PL	0/1:238,177:415:99:4662,0,6846	20	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.39	N	4.44	T	-0.932	T	0.000	T	0.219	-0.051	3.752	-2.54	-0.039	-2.014	5.099	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	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	0.07143	2989.68	73	chr1	152306286	.	A	C	2989.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.179e+00;DP=10972;ExcessHet=0.3300;FS=0.960;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-8.047e+00;QD=0.95;ReadPosRankSum=6.54;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:817,85:902:99:0|1:152306286_A_C:1009,0,33679:152306286	18	0	3	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28,	Ichthyosis vulgaris, Autosomal dominant	.	0	1397	124	1	0	126	0.0431507	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2642.64	73	chr1	152306292	.	G	GCC	2642.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.361e+00;DP=11022;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.58;MQRankSum=-8.171e+00;QD=0.82;ReadPosRankSum=6.68;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:831,84:915:99:0|1:152306286_A_C:945,0,34452:152306286	18	0	3	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5,	Ichthyosis vulgaris, Autosomal dominant	.	1	1401	119	1	0	121	0.0413958	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2402.64	73	chr1	152306294	.	ATG	A	2402.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.519e+00;DP=11062;ExcessHet=0.3300;FS=1.021;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.84;MQRankSum=-8.412e+00;QD=0.73;ReadPosRankSum=5.83;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:846,82:928:99:0|1:152306286_A_C:857,0,35151:152306286	18	0	3	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S,	Ichthyosis vulgaris, Autosomal dominant	.	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.477	P	0.241	B	.	.	1.000	N	0.85	L	4.7	T	-0.932	T	0.002	T	0.218	0.206	5.112	0.398	0.092	.	3.431	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.07143	2304.68	73	chr1	152306299	.	T	A	2304.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.859e+00;DP=11064;ExcessHet=0.3300;FS=1.018;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=54.16;MQRankSum=-8.642e+00;QD=0.70;ReadPosRankSum=5.14;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:845,80:925:99:0|1:152306286_A_C:816,0,35241:152306286	18	0	3	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:397,178,0:575:99:.:.:4299,0,13735,5493,14269,19762	10	0	10	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,19,0,0:19:53:781,53,0,784,57,787,784,57,787,787	3	4	8	2
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:71,28:99:99:107,0,1003	6	0	15	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,0,36,0,0,0,0:36:99:1604,1607,1610,106,108,0,1607,1610,108,1610,1607,1610,108,1610,1610,1607,1610,108,1610,1610,1610,1607,1610,108,1610,1610,1610,1610	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,0,36,0,0,0,0:36:99:1604,1607,1610,106,108,0,1607,1610,108,1610,1607,1610,108,1610,1610,1607,1610,108,1610,1610,1610,1607,1610,108,1610,1610,1610,1610	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,0,36,0,0,0,0:36:99:1604,1607,1610,106,108,0,1607,1610,108,1610,1607,1610,108,1610,1610,1607,1610,108,1610,1610,1610,1607,1610,108,1610,1610,1610,1610	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,0,36,0,0,0,0:36:99:1604,1607,1610,106,108,0,1607,1610,108,1610,1607,1610,108,1610,1610,1607,1610,108,1610,1610,1610,1607,1610,108,1610,1610,1610,1610	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/2:0,0,36,0,0,0,0:36:99:1604,1607,1610,106,108,0,1607,1610,108,1610,1607,1610,108,1610,1610,1607,1610,108,1610,1610,1610,1607,1610,108,1610,1610,1610,1610	0	1	0	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	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	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,13,0:76:79:0|1:156011822_G_A:79,0,2046,267,2084,2351:156011822	3	0	10	7
chr1	156873743	156873743	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon8:c.G961A:p.V321M	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	1914008	Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided	MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.58	P	0.091	B	0.007	N	1.000	N	1.185	L	1.51	T	-1.028	T	0.015	T	0.171	2.036	12.77	0.882	0.893	-0.104	1.011	0.039	0.0067491678697	7.7e-05	.	3.665e-05	0.0001	0	0	0	3.303e-05	0	6.616e-05	2.59e-05	4	154602	rs369367198	2.259e-05	2.257e-05	1.634e-05	2.89e-05	0.0003	1.611e-05	1.417e-05	0.0002	0.0001	0.0003	0	0	0	1.878e-05	0.0002	5.397e-06	9.943e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.119	0.36101	T	0.58	0.38813	P	0.042	0.24114	B	0.006721	0.31850	N	0.218051	1	0.08975	N	0.46	0.12951	N	1.51	0.30937	T	-0.43	0.14390	N	0.246	0.31702	-1.0276	0.21233	T	0.015	0.06090	T	10	0.11572459	0.21810	T	0.006749	0.17840	T	0.039	0.10176	.	.	0.716905102443	0.71441	0.5993136846928314	0.59862	0.556277365076	0.52292	0.521540045738	0.41843	T	0.33471	0.70441	T	-0.381999	0.03026	T	-0.603101	0.12552	T	0.113227254659326	0.13756	T	0.405859	0.10416	T	0.061811566	0.12840	0.07825554	0.17510	0.061811566	0.12840	0.07825554	0.17510	-6.069	0.46853	T	0.10189253229811472	0.07683	0.088	0.11941	B	.;.;.;.	.;.;.;.	2.556314	0.33095	19.24	0.98573772959142036	0.43141	0.09599	0.15319	N	AEFDBI	0.030896	0.03197	N	-0.372866044589467	0.26440	1.442998	-0.317096889264733	0.27546	1.529286	0.928485324306345	0.26930	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.631631	0.49550	0	.	.	6.17	0.882	0.18306	-0.201000	0.09466	1.764000	0.28577	0.676000	0.76740	0.000000	0.06391	0.424000	0.24822	0.873000	0.41610	0.245:0.3081:0.2894:0.1575	1.011	0.01402	579	0.69780	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1397.98	37	chr1	156873743	.	G	A	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=848;ExcessHet=0.0000;FS=2.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.272;SOR=0.930	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1412,0,1774	20	0	1	0
chr1	156913875	156913875	G	A	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon22:c.G2737A:p.G913R	.	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.022	B	0.003	B	0.003	N	0.889	N	1.61	L	-2.38	D	-0.725	T	0.358	T	0.315	2.760	15.19	3.71	2.640	-0.090	7.346	0.214	0.0347419567581	0.0015	0.00199681	0.0005	0.0038	0.0005	0.0001	0	0.0001	0	0.0002	0.0004851	75	154602	rs111590338	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0060	0.0054	0.0043	0.0005	0	0.0002	0	0.0078	5.217e-05	0.0007	8.124e-05	0.0013	0.0013	0.0013	0.0013	0.0042	0.0011	0.0011	0.0037	0.0035	0.0042	0	0.0004	0.0006	0.0002	0	0.0204	2.94e-05	0.0019	0	0.374	0.11406	T	0.145	0.33000	T	0.022	0.18677	B	0.003	0.08700	B	0.002931	0.35704	N	0.127058	0.888815	0.27919	N	2.4	0.69460	M	-2.38	0.88298	D	-0.53	0.16393	N	0.296	0.33469	-0.7250	0.59215	T	0.358	0.71998	T	10	0.008041143	0.00183	T	0.034742	0.55878	D	0.214	0.50650	0.244	0.17830	0.618588964477	0.61550	0.5775723059869875	0.57686	0.199639565115	0.22366	0.408351182938	0.26229	T	0.00672	0.06148	T	-0.316377	0.07198	T	-0.22775	0.51989	T	0.0269972910646285	0.01543	T	0.679332	0.28809	T	0.10640449	0.25160	0.07073448	0.15064	0.10640449	0.25160	0.07073448	0.15064	-3.09	0.11182	T	.	.	0.099	0.19518	B	.;.	.;.	1.981356	0.25168	16.67	0.99609460564693109	0.74694	0.54522	0.29636	D	AEFDBCI	0.085431	0.17318	N	-0.186289113614509	0.33703	1.915242	-0.0479136303626954	0.37581	2.202333	0.999919779968781	0.45857	0.67177	0.52595	0	0.59043	0.45803	0	0.769059	0.98459	0	0.711	0.71501	0	.	.	5.6	3.71	0.41733	-0.064000	0.11593	1.106000	0.24114	0.676000	0.76740	0.755000	0.29187	1.000000	0.68203	0.732000	0.35165	0.2285:0.0:0.7715:0.0	7.346	0.25837	398	0.82839	.;.	.	.	.	.	.	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	0.02381	905.98	37	chr1	156913875	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=824;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.061;SOR=0.883	GT:AD:DP:GQ:PL	0/1:39,34:73:99:920,0,883	20	0	1	0
chr1	158652571	158652571	C	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon23:c.G3271C:p.A1091P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.007	N	1.000	D	2.35	M	0.21	T	-0.317	T	0.356	T	0.916	4.979	29.1	5.21	2.722	4.962	17.501	0.543	0.189188174775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.006559	0.31955	N	0.000000	1	0.81001	D	3.005	0.85968	M	0.21	0.59983	T	-4.21	0.75776	D	0.867	0.86404	-0.3168	0.74511	T	0.356	0.71881	T	10	0.9235935	0.91710	D	0.189188	0.86047	D	0.543	0.80960	0.752	0.88237	0.847815033353	0.84635	0.8614089977129892	0.86104	0.243668225337	0.26869	0.683357298374	0.64751	T	0.692392	0.91068	D	0.299143	0.82899	D	0.191922	0.82678	D	0.995458364486694	0.87455	D	0.752925	0.37500	T	0.9427935	0.95532	0.9255177	0.96783	0.9427935	0.95532	0.9255177	0.96784	-11.24	0.80958	D	0.7227345628681306	0.80392	0.977	0.90609	P	.;.	.;.	4.288278	0.65375	24.8	0.99780095318702455	0.86693	0.98107	0.79657	D	AEFGBI	0.853602	0.77057	D	0.775340336010476	0.84542	8.31683	0.739224692975231	0.85351	8.554286	0.999999987283579	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	5.242000	0.65211	4.861000	0.45471	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.501	0.87628	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	91.9	94	chr1	158652571	.	C	G	91.9	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.158e+00;DP=2340;ExcessHet=0.3300;FS=273.274;InbreedingCoeff=-0.1106;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.823;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,40:146:6:.:.:6,0,1980	15	0	3	3
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:136,44:180:99:148,0,2712	5	0	16	0
chr1	161673197	161673197	A	T	exonic	FCGR2B	.	nonsynonymous SNV	FCGR2B:NM_001190828:exon3:c.A593T:p.Y198F	.	.	2	1494	26	0	0	26	0.00862641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.004	B	0.000	N	1.000	N	0.85	L	2.72	T	-0.984	T	0.008	T	0.136	0.845	8.416	1.16	0.252	1.222	3.189	0.075	0.00251788598761	0.0008	.	0.0018	0.0024	0.0017	0.0057	0	0.0006	0.0058	0.0046	0.0011142	29	26028	rs1050499	0.0017	0.0023	0.0016	0.0018	0.0104	0.0016	0.0016	0.0095	0.0092	0.0048	0.0070	0.0001	0.0104	0.0002	0.0044	0.0008	0.0028	0.0054	0.0045	0.0053	0.0039	0.0051	0.0172	0.0042	0.0041	0.0155	0.0148	0.0058	0	0.0172	0.0003	0.0137	0	0	0.0012	0.0024	0.0062	0.3	0.17296	T	0.283	0.22694	T	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.00162	N	13.126700	1	0.08975	N	1.355	0.33814	L	2.72	0.11947	T	-1.82	0.43524	N	0.146	0.14763	-0.9836	0.34164	T	0.008	0.02926	T	10	0.0054632127	0.00120	T	0.002518	0.05037	T	0.075	0.21907	.	.	0.0716867268079	0.06686	0.16808388972673394	0.16728	0.691813054051	0.60620	0.2851331532	0.08218	T	0.092434	0.39004	T	-0.631686	0.00093	T	-0.676144	0.07221	T	0.00692981606698224	0.00079	T	0.116288	0.00889	T	0.43786907	0.63264	0.11826913	0.28548	0.43786907	0.63265	0.11826913	0.28548	-9.702	0.72145	D	.	.	0.113	0.22282	B	.;.;.	.;.;.	0.418974	0.07896	4.600	0.55985155277803345	0.05457	0.06779	0.12802	N	AEFBI	0.149826	0.27400	N	-1.13690989630661	0.05998	0.2749676	-1.13985614502239	0.06951	0.3363837	1.36716774895723E-5	0.02871	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.02	1.16	0.19936	0.894000	0.27983	0.292000	0.16883	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.6339:0.0:0.1931:0.173	3.189	0.06216	845	0.36510	.;.;Immunoglobulin-like 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	0.02381	2146.98	42	chr1	161673197	.	A	T	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.283;DP=908;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.82;MQRankSum=3.09;QD=19.17;ReadPosRankSum=0.439;SOR=0.807	GT:AD:DP:GQ:PL	0/1:31,81:112:99:2161,0,630	20	0	1	0
chr1	169536616	169536616	G	A	exonic	F5	.	stopgain	F5:NM_000130:exon14:c.C4861T:p.R1621X,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	3067045	Congenital_factor_V_deficiency	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.960	46	4.06	1.166	4.141	14.587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.106e-06	4.788e-06	5.448e-06	2.751e-06	0.0002	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	8.997e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000018	0.62929	D	0.072732	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.842	0.83781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.658823	0.97848	38	0.99837046239837035	0.91800	0.95560	0.65208	D	AEFBI	0.150227	0.27447	N	0.715986483944103	0.80680	7.348353	0.564177340994092	0.72389	5.802195	0.942663585797136	0.27532	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.0	4.06	0.46572	4.172000	0.58036	7.059000	0.57399	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.8482:0.1518	14.587	0.67929	774	0.48577	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	923.98	35	chr1	169536616	.	G	A	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=793;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=0.263;SOR=0.721	GT:AD:DP:GQ:PL	0/1:50,42:92:99:938,0,1260	20	0	1	0
chr1	169876054	169876054	A	G	exonic	SCYL3	.	nonsynonymous SNV	SCYL3:NM_020423:exon4:c.T389C:p.V130A	.	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.995	D	0.000	D	1.000	D	3.095	M	-1.04	T	0.449	D	0.641	D	0.845	4.807	27.2	5.65	2.150	8.792	15.547	0.815	0.134429817425	0.0012	0.00119808	0.0025	0.0002	0.0014	0	0.0029	0.0031	0.0011	0.0036	0.002335	361	154602	rs149229551	0.0019	0.0019	0.0018	0.0020	0.0036	0.0018	0.0018	0.0032	0.0031	0.0002	0.0014	0.0038	0	0.0022	0.0031	0.0018	0.0020	0.0036	0.0016	0.0016	0.0015	0.0016	0.0039	0.0014	0.0013	0.0026	0.0021	0.0002	0.0143	0.0013	0.0046	0	0.0016	0	0.0021	0.0014	0.0039	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.425	0.91960	M	-1.04	0.76561	T	-3.66	0.71639	D	0.845	0.85027	0.449	0.89813	D	0.641	0.87465	D	9	0.023034424	0.00591	T	0.13443	0.81686	D	0.815	0.94046	.	.	0.777902203524	0.77585	0.724757039704619	0.72419	0.838348222315	0.67911	0.687627434731	0.65365	T	0.222092	0.58584	T	0.0175693	0.54052	T	0.250671	0.85649	D	0.0797101259765346	0.09950	T	0.911409	0.69499	D	0.5889375	0.72093	0.6420084	0.79081	0.5889375	0.72094	0.6420084	0.79082	-9.207	0.69019	D	.	.	0.63	0.71382	P	.;.;.;.	.;.;.;.	4.961518	0.82045	27.7	0.99875459185199744	0.95244	0.98980	0.89484	D	AEFBI	0.864882	0.78381	D	0.847975610197684	0.88993	9.792196	0.804255172894076	0.90087	10.25075	0.999999905350496	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.65	5.65	0.86881	8.782000	0.91448	11.077000	0.85682	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.547	0.75846	552	0.72024	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	407.98	35	chr1	169876054	.	A	G	407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=0.334;SOR=0.610	GT:AD:DP:GQ:PL	0/1:26,18:44:99:422,0,628	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:6,42,0:48:99:.:.:1428,109,0,1437,126,1455	2	5	6	0
chr1	185182016	185182016	G	A	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon7:c.G1097A:p.S366N	.	.	437	1083	2	0	0	2	0.000922509	.	.	2356240	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.125	B	0.019	B	0.000	N	0.994	N	0.46	N	2.01	T	-1.058	T	0.034	T	0.039	1.964	12.52	3.83	0.358	1.868	13.640	0.105	0.00417787325029	.	.	9.888e-05	0	8.646e-05	0	0	0.0002	0	0	7.76e-05	12	154602	rs746471398	8.554e-05	8.551e-05	7.218e-05	9.904e-05	0.0007	7.315e-05	6.818e-05	0.0002	0.0001	0	6.708e-05	0.0014	0	0	0.0007	4.228e-05	0.0004	0.0001	9.851e-05	9.843e-05	0.0001	5.372e-05	6.533e-05	6.004e-05	4.877e-05	1.972e-05	1.125e-05	0	0	6.533e-05	0.0020	0	0	0.0034	5.882e-05	0.0009	0	0.123	0.27544	T	0.083	0.41405	T	0.125	0.26866	B	0.019	0.18783	B	0.000003	0.62929	N	0.103566	0.994324	0.23542	N	1.465	0.36909	L	2.01	0.21291	T	-0.88	0.23808	N	0.215	0.24010	-1.0578	0.12311	T	0.034	0.14421	T	10	0.03128484	0.01262	T	0.004178	0.10058	T	0.105	0.29889	.	.	0.0551355673512	0.04727	0.291560024923369	0.29069	0.169117213538	0.19062	0.475270807743	0.35407	T	0.017712	0.14403	T	-0.512196	0.00488	T	-0.699211	0.05869	T	0.0205262229286457	0.00752	T	0.651635	0.26249	T	0.11238411	0.26550	0.12545548	0.30228	0.11238411	0.26550	0.12545548	0.30227	-7.229	0.55689	T	.	.	0.095	0.15070	B	.;.	.;.	1.672697	0.21327	15.15	0.87486049850826908	0.17262	0.83932	0.43022	D	AEFI	0.123129	0.23859	N	-0.638964919150856	0.17782	0.9179868	-0.450274349419518	0.23541	1.28432	7.07190886132574E-4	0.07666	0.651	0.46895	0	0.588015	0.36545	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.71	3.83	0.43287	1.960000	0.40046	1.466000	0.26718	-0.800000	0.03169	1.000000	0.71638	0.949000	0.28973	0.985000	0.61073	0.136:0.0:0.864:0.0	13.640	0.61718	442	0.79946	.;.	.	.	.	.	.	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	0.02381	1277.98	37	chr1	185182016	.	G	A	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.155e+00;DP=911;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-8.010e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/1:78,58:136:99:1292,0,1978	20	0	1	0
chr1	186307967	186307967	G	A	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127710:exon4:c.G1846A:p.A616T	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	5	1510	6	0	1	7	0.00198282	.	.	2806266	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.022	B	0.004	B	.	.	1.000	N	0.145	N	3.41	T	-0.922	T	0.005	T	0.241	-0.039	3.817	-3.23	-0.789	-1.623	2.402	0.004	0.00585126972514	0.0031	0.000798722	0.0027	0.0017	0.0010	0	0.0062	0.0036	0.0011	0.0011	0.0025032	387	154602	rs143599637	0.0032	0.0032	0.0033	0.0032	0.0035	0.0032	0.0031	0.0034	0.0034	0.0014	0.0009	0.0001	0	0.0092	0.0007	0.0035	0.0029	0.0008	0.0029	0.0030	0.0031	0.0028	0.0042	0.0027	0.0026	0.0038	0.0037	0.0012	0	0.0007	0.0003	0	0.0087	0	0.0042	0.0025	0.0004	0.231	0.20988	T	0.664	0.11968	T	0.007	0.18677	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	3.41	0.05918	T	-0.66	0.19085	N	0.039	0.01274	-0.9220	0.45279	T	0.005	0.01797	T	8	0.0061532855	0.00138	T	0.005851	0.15221	T	0.004	0.00165	.	.	0.0138822411134	0.00435	0.06282957356091382	0.06221	0.0347315596019	0.03653	0.171398892999	0.00038	T	0.012731	0.17204	T	-0.582781	0.00185	T	-0.610739	0.11925	T	0.00751715731410261	0.00087	T	0.642936	0.28377	T	0.017116984	0.00247	0.06316367	0.12472	0.024359366	0.01259	0.050057247	0.07778	-5.851	0.49595	T	.	.	0.079	0.17360	B	.;.;.;.;.	.;.;.;.;.	0.143346	0.05369	1.850	0.39058893340488576	0.02672	0.00103	0.00666	N	AEFI	0.109171	0.21693	N	-1.43272742374902	0.02356	0.103947	-1.54327704816008	0.02022	0.09243663	7.16845295895567E-4	0.07685	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.62	-3.23	0.04794	-0.989000	0.03846	-1.857000	0.04601	0.338000	0.19717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3007:0.0:0.3091:0.3903	2.402	0.04136	259	0.89842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	2843.98	80	chr1	186307967	.	G	A	2843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.126;DP=1374;ExcessHet=0.0000;FS=1.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.95;QD=11.38;ReadPosRankSum=0.698;SOR=0.797	GT:AD:DP:GQ:PL	0/1:129,121:250:99:2858,0,3007	20	0	1	0
chr1	186393953	186393955	TCT	-	exonic	ODR4	.	nonframeshift deletion	ODR4:NM_001164246:exon8:c.622_624del:p.S209del	.	.	598	915	7	2	0	11	0.00597501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	.	0.0036	0.0009	0.0024	0	0.0055	0.0050	0.0041	0.0028	0.0002305	6	26028	rs556420947	0.0034	0.0033	0.0034	0.0034	0.0036	0.0033	0.0033	0.0035	0.0035	0.0006	0.0011	0.0002	0	0.0095	0.0021	0.0036	0.0032	0.0021	0.0032	0.0032	0.0033	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0006	0	0.0010	0.0003	0	0.0091	0	0.0050	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	774.94	25	chr1	186393952	.	ATCT	A	774.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.850e-01;DP=643;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.94;ReadPosRankSum=-1.235e+00;SOR=0.744	GT:AD:DP:GQ:PL	0/1:17,20:37:99:789,0,654	20	0	1	0
chr1	200976880	200976880	C	T	exonic	KIF21B	.	nonsynonymous SNV	KIF21B:NM_001252103:exon31:c.G4300A:p.G1434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.977	D	0.68	P	0.000	D	1.000	D	1.85	L	0.26	T	-0.506	T	0.277	T	0.544	4.040	20.7	5.09	2.353	7.768	18.493	0.319	0.0315753125472	.	.	5.099e-05	0	0	0.0002	0	6.157e-05	0	0	3.88e-05	6	154602	rs773631554	2.128e-05	2.189e-05	2.319e-05	1.934e-05	0.0002	1.525e-05	1.329e-05	1.465e-05	1.231e-05	0	4.504e-05	7.677e-05	2.528e-05	0	0.0002	2.165e-05	1.664e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.879e-05	0	0	0.006	0.61437	D	0.01	0.65728	D	0.972	0.58535	D	0.552	0.53472	P	0.000002	0.62929	D	0.059016	0.999999	0.58761	D	3.165	0.88605	M	0.26	0.59314	T	-4.28	0.76334	D	0.63	0.64989	-0.5057	0.68443	T	0.277	0.64906	T	10	0.6244365	0.68161	D	0.031575	0.53626	D	0.319	0.64112	0.488	0.57257	0.65606726329	0.65319	0.43434579447617916	0.43351	1.39758405531	0.85125	0.562085151672	0.47562	T	0.19879	0.55588	T	-0.0553118	0.43636	T	-0.136932	0.60384	T	0.925227463245392	0.58683	D	0.988564	0.96090	D	0.4458392	0.63777	0.41821453	0.65852	0.4458392	0.63778	0.41821453	0.65852	-11.924	0.84478	D	.	.	0.238	0.52068	B	.;.;.;.	.;.;.;.	4.392131	0.67793	25.1	0.99811186816189046	0.89531	0.99673	0.98548	D	AEFBI	0.927122	0.90928	D	0.526382920173128	0.68655	5.247183	0.494373369836041	0.67616	5.107979	0.999999999531666	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	5.09	5.09	0.68647	7.892000	0.85858	5.871000	0.50535	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.123000	0.19290	0.0:1.0:0.0:0.0	18.493	0.90802	711	0.56613	.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	564.98	34	chr1	200976880	.	C	T	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-6.600e-02;SOR=0.708	GT:AD:DP:GQ:PL	0/1:35,22:57:99:579,0,860	20	0	1	0
chr1	202005651	202005651	G	A	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_001319183:exon10:c.G1018A:p.A340T	.	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.015	B	0.000	D	1.000	N	1.39	L	0.96	T	-1.014	T	0.082	T	0.258	0.945	8.854	3.71	1.359	1.769	6.752	0.062	0.0151638626629	0.0010	0.000599042	0.0014	0	0.0003	0	0	0.0018	0.0022	0.0028	0.0013325	206	154602	rs148685424	0.0012	0.0012	0.0011	0.0013	0.0059	0.0012	0.0011	0.0043	0.0038	5.974e-05	0.0004	0.0194	0	3.744e-05	0.0059	0.0007	0.0025	0.0028	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0	0.0005	0.0190	0	0	0.0068	0.0008	0.0014	0.0017	0.088	0.32296	T	0.45	0.12957	T	0.001	0.07471	B	0.009	0.14300	B	0.000232	0.47286	D	0.139670	1	0.08975	N	2.52	0.73523	M	0.96	0.42888	T	-1.16	0.29727	N	0.101	0.09914	-1.0136	0.25784	T	0.082	0.32353	T	10	0.0040664375	0.00079	T	0.015164	0.35730	T	0.062	0.17934	.	.	0.388334884743	0.38444	0.39205197309591555	0.39120	0.15456095678	0.17459	0.379396140575	0.22171	T	0.159875	0.50350	T	-0.492285	0.00631	T	-0.484837	0.23933	T	0.0420156570279284	0.04057	T	0.70043	0.31009	T	0.389314	0.59983	0.33222032	0.59073	0.389314	0.59983	0.33222032	0.59072	-3.54	0.16996	T	.	.	0.088	0.24633	B	.;.	.;.	2.196487	0.28013	17.65	0.94565608790041678	0.25095	0.63475	0.32101	D	AEFBI	0.355831	0.44742	N	-0.609689726749758	0.18653	0.9700976	-0.548791100628141	0.20838	1.124541	0.999945206986357	0.47345	0.722319	0.85440	0	0.724815	0.89359	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.6	3.71	0.41733	1.827000	0.38740	0.414000	0.18144	-0.667000	0.04321	0.731000	0.28933	0.001000	0.17328	0.045000	0.14751	0.1531:0.0:0.7061:0.1409	6.752	0.22679	809	0.43032	Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal;Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal|Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	913.98	34	chr1	202005651	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.100e+00;DP=808;ExcessHet=0.0000;FS=0.840;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.936e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:43,39:82:99:928,0,1100	20	0	1	0
chr1	203486733	203486733	A	G	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon3:c.A1001G:p.N334S	.	.	425	1034	60	3	0	66	0.0309278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.003	B	0.320	N	1.000	N	-0.55	N	3.68	T	-0.900	T	0.004	T	0.113	-1.525	0.016	-0.025	0.025	0.208	6.184	0.016	.	0.0052	0.00758786	0.0095	0.0014	0.0024	0	0.0136	0.0086	0.0066	0.0267	0.0087062	1346	154602	rs2233732	0.0072	0.0072	0.0064	0.0079	0.0272	0.0070	0.0070	0.0262	0.0259	0.0004	0.0016	0.0025	5.044e-05	0.0145	0.0115	0.0060	0.0067	0.0272	0.0056	0.0056	0.0048	0.0065	0.0232	0.0053	0.0052	0.0198	0.0184	0.0013	0	0.0016	0.0020	0	0.0160	0.0102	0.0071	0.0038	0.0232	1.0	0.00964	T	0.743	0.04930	T	0.0	0.02946	B	0.003	0.08700	B	0.320284	0.14282	N	0.686157	1	0.08975	N	0.14	0.08730	N	3.68	0.04151	T	0.43	0.03297	N	0.082	0.05799	-0.8997	0.48024	T	0.004	0.01261	T	10	0.0030761957	0.00051	T	.	.	.	0.016	0.02506	.	.	0.314716216878	0.31082	0.37569064836316246	0.37483	0.244964202467	0.27014	0.271674275398	0.06360	T	0.126654	0.45317	T	-0.673857	0.00052	T	-0.719775	0.04807	T	0.00674077304250171	0.00076	T	0.630137	0.24490	T	0.039595705	0.05495	0.05605384	0.09946	0.039595705	0.05495	0.05605384	0.09946	-2.302	0.04566	T	.	.	0.058	0.00670	B	.	.	0.390899	0.07625	4.288	0.21749631327509414	0.00843	0.10202	0.15773	N	AEFBI	0.179498	0.30679	N	-1.17441942802711	0.05389	0.2455513	-1.11938639794999	0.07330	0.3561344	0.999580077036567	0.40607	0.581397	0.33459	0	0.547309	0.14657	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.45	-0.0252	0.13262	0.099000	0.15047	1.477000	0.26794	0.756000	0.94297	0.000000	0.06391	0.213000	0.23658	0.773000	0.36634	0.5174:0.2678:0.2148:0.0	6.184	0.19702	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	3808.68	45	chr1	203486733	.	A	G	3808.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.377;DP=1083;ExcessHet=0.3300;FS=0.796;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.010;SOR=0.649	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1155,0,1095	18	0	3	0
chr1	204409778	204409778	G	C	exonic	PPP1R15B	.	nonsynonymous SNV	PPP1R15B:NM_032833:exon1:c.C1634G:p.S545C,	Microcephaly, short stature, and impaired glucose metabolism 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.203	B	0.231	B	0.431	N	1.000	N	2.255	M	1.64	T	-0.955	T	0.120	T	0.195	3.070	16.25	3.44	0.594	1.293	14.664	0.124	0.00477615215574	.	.	6.597e-05	0	0.0002	0	0	8.996e-05	0	0	7.12e-05	11	154602	rs763050964	5.541e-05	5.609e-05	5.173e-05	5.913e-05	0.0002	4.543e-05	4.155e-05	2.985e-05	1.804e-05	0	8.944e-05	0.0016	0	0	0.0002	2.248e-05	0.0001	0	7.228e-05	7.224e-05	6.425e-05	8.069e-05	6.545e-05	3.971e-05	3.128e-05	4.88e-06	1.83e-06	0	0	6.545e-05	0.0023	0	0	0	2.94e-05	0	0	0.035	0.43708	D	0.013	0.63109	D	.	.	.	.	.	.	0.430714	0.12751	N	0.725151	1	0.08975	N	.	.	.	1.64	0.27822	T	-2.02	0.46503	N	0.149	0.15187	-0.9552	0.40060	T	0.120	0.42015	T	10	0.026930869	0.00849	T	0.004776	0.11910	T	0.124	0.34239	0.423	0.46693	0.417334834585	0.41349	0.23746273317081126	0.23661	0.13327128798	0.15006	0.35568434	0.18756	T	.	.	.	-0.336764	0.05616	T	-0.524543	0.19835	T	0.0828393695518075	0.10347	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22282	B	.	.	3.649356	0.51790	23.1	0.98643142347801005	0.44082	0.18162	0.20145	N	AEFGBCI	0.096286	0.19440	N	-0.26919370058488	0.30345	1.691098	-0.282061627304853	0.28688	1.601526	0.999999809082415	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.38	3.44	0.38486	1.341000	0.33512	5.582000	0.48972	-0.111000	0.15049	0.227000	0.24611	1.000000	0.68203	0.981000	0.58702	0.0:0.5084:0.4916:0.0	14.664	0.68504	622	0.65860	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1442.98	34	chr1	204409778	.	G	C	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.150e-01;DP=833;ExcessHet=0.0000;FS=3.444;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.990;SOR=1.023	GT:AD:DP:GQ:PL	0/1:57,55:112:99:1457,0,1594	20	0	1	0
chr1	205935772	205935772	G	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon2:c.C49A:p.L17I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.91	P	0.197	B	0.008	N	0.983	N	1.39	L	-3.05	D	-0.149	T	0.580	D	0.183	1.189	9.833	4.27	1.168	1.309	10.012	0.249	0.0326536197064	.	.	8.237e-06	0	8.639e-05	0	0	0	0	0	3.84e-05	1	26028	rs770847069	3.42e-06	3.42e-06	4.084e-06	2.75e-06	0.0002	1e-06	7.3e-07	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.139	0.33666	T	0.78	0.44271	P	0.123	0.32463	B	0.007833	0.31171	N	0.260996	0.983041	0.24916	N	1.87	0.49600	L	-3.08	0.92560	D	-0.17	0.09627	N	0.304	0.34336	-0.1492	0.78935	T	0.580	0.84889	D	10	0.1719876	0.31947	T	0.032654	0.54424	D	0.249	0.55752	0.315	0.29096	0.499793596984	0.49617	0.4264630753259335	0.42563	0.179228908235	0.20168	0.630973577499	0.57283	T	0.063265	0.32132	T	-0.125116	0.32289	T	-0.220525	0.52687	T	0.284771531820297	0.24371	T	0.876112	0.58827	D	0.20660071	0.42840	0.15496711	0.36346	0.20660071	0.42840	0.15496711	0.36346	-7.405	0.58408	T	.	.	0.092	0.19679	B	.;.;.	.;.;.	2.332186	0.29874	18.26	0.89546034043563505	0.18890	0.52039	0.29037	D	AEFDGBCI	0.081180	0.16424	N	0.122768522892438	0.47528	2.977135	0.179326506444989	0.48715	3.083764	0.999919959881184	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.21	4.27	0.50009	1.405000	0.34243	7.599000	0.61500	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.883000	0.42306	0.0:0.3882:0.4747:0.137	10.012	0.41164	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	579.98	33	chr1	205935772	.	G	T	579.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=765;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.66;ReadPosRankSum=-7.000e-03;SOR=0.755	GT:AD:DP:GQ:PL	0/1:43,24:67:99:594,0,1226	20	0	1	0
chr1	207645252	207645252	C	T	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon1:c.C19T:p.L7F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.068	B	0.014	B	.	.	1.000	N	0	N	1.48	T	-1.021	T	0.025	T	0.102	1.083	9.420	-4.67	-1.174	-0.323	0.177	0.117	0.00177697303275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.14694	T	0.503	0.11078	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.48	0.31731	T	-0.54	0.16598	N	0.101	0.08366	-1.0206	0.23519	T	0.025	0.10598	T	9	0.03777966	0.02153	T	0.001777	0.03037	T	0.117	0.32689	0.19	0.10039	0.0297737177859	0.01360	0.5466139326017481	0.54587	0.172625303199	0.19432	0.309144556522	0.11778	T	0.003658	0.03070	T	-0.326334	0.06392	T	-0.706533	0.05476	T	0.0669415516825664	0.08215	T	0.321368	0.06521	T	0.04423942	0.07037	0.047978878	0.07030	0.04423942	0.07036	0.047978878	0.07030	-5.687	0.43578	T	.	.	0.103	0.18331	B	.	.	0.331232	0.07050	3.617	0.83009026135481634	0.14493	0.06352	0.12351	N	AEFDGBHCI	0.063256	0.12212	N	-1.74411753676671	0.00697	0.03008603	-1.81828529166272	0.00702	0.03127977	0.99999999999993	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.578056	0.29568	0	0.603991	0.37454	0	.	.	2.95	-4.67	0.03080	-0.319000	0.08080	-2.829000	0.03318	-1.024000	0.01719	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3094:0.228:0.1435:0.319	0.177	0.00110	706	0.57215	.	.	.	.	.	.	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	1	0	0	0	0.02381	1277.98	34	chr1	207645252	.	C	T	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.444;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.290;SOR=0.638	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1292,0,927	20	0	1	0
chr1	207889585	207889585	G	A	exonic	CD34	.	stopgain	CD34:NM_001025109:exon5:c.C634T:p.R212X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.906	N	1.000	A	.	.	.	.	.	.	.	.	.	4.786	26.9	2.12	0.622	1.233	7.031	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs753812536	5.815e-05	5.814e-05	6.534e-05	5.088e-05	0.0003	4.81e-05	4.431e-05	6.092e-05	4.966e-05	0	8.95e-05	0	0	0	0.0003	6.655e-05	3.312e-05	3.479e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.905932	0.08586	N	0.958584	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.805	0.82057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215566	0.75356	D	0.268841	0.86509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.128813	0.96175	35	0.9885308229090729	0.47339	0.07757	0.13756	N	AEFDBCI	0.114530	0.22555	N	0.0607107291468517	0.44635	2.734084	-0.264946863421975	0.29262	1.637989	0.999968316161873	0.48965	0.730579	0.87903	0	0.547309	0.14657	0	0.618467	0.43123	0	0.648885	0.59868	0	.	.	5.38	2.12	0.26372	1.138000	0.31103	3.633000	0.39322	0.676000	0.76740	0.002000	0.15269	0.661000	0.26016	0.011000	0.09372	0.0:0.2998:0.4658:0.2345	7.031	0.24144	900	0.24599	.;.;.	.	.	.	.	.	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	0.02381	924.98	33	chr1	207889585	.	G	A	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=787;ExcessHet=0.0000;FS=3.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=-2.690e-01;SOR=1.209	GT:AD:DP:GQ:PL	0/1:26,34:60:99:939,0,583	20	0	1	0
chr1	216289360	216289360	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon11:c.G1891A:p.D631N	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	584458	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.151	B	0.062	B	0.000	D	0.996	D	1.825	L	2.56	T	-1.113	T	0.052	T	0.064	2.853	15.50	4.51	2.712	3.286	13.951	0.072	0.00780004170661	.	0.000199681	0.0001	0	0	0	0	0	0	0.0011	0.0001229	19	154602	rs552400144	8.073e-05	8.072e-05	4.493e-05	0.0001	0.0012	6.868e-05	6.421e-05	0.0010	0.0010	2.987e-05	0	0	0	0	0.0003	8.994e-07	0.0001	0.0012	3.939e-05	3.937e-05	3.854e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.36	0.15303	T	0.387	0.28210	T	0.151	0.28027	B	0.062	0.26930	B	0.000408	0.44736	D	0.000000	0.996318	0.43134	D	1.745	0.45235	L	2.56	0.19860	T	-1.14	0.31778	N	0.341	0.38232	-1.1132	0.02809	T	0.052	0.21921	T	10	0.040113956	0.02553	T	0.008	0.20694	T	0.072	0.21020	0.439	0.49321	0.858411425167	0.85704	0.6512583296511882	0.65061	0.0485055709482	0.05301	0.409390985966	0.26372	T	0.05509	0.29909	T	-0.589798	0.00168	T	-0.676329	0.07210	T	0.083727542400145	0.10458	T	0.766723	0.39447	T	0.092406034	0.21677	0.07651878	0.16954	0.092406034	0.21676	0.07651878	0.16954	-4.862	0.35305	T	.	.	0.092	0.14108	B	.;.	.;.	3.019632	0.40410	21.2	0.99816847366913641	0.89973	0.91057	0.52775	D	AEFDIJ	0.268287	0.38482	N	0.000615715169083722	0.41883	2.513296	0.156094684961013	0.47466	2.976391	0.113510539115499	0.16710	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	4.51	0.54589	3.185000	0.50635	2.209000	0.31352	0.599000	0.40250	0.995000	0.38783	0.978000	0.30204	0.773000	0.36634	0.0:0.9268:0.0:0.0732	13.951	0.63631	872	0.31118	Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1860.98	36	chr1	216289360	.	C	T	1860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.950e-01;DP=885;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.614;SOR=0.600	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1875,0,1977	20	0	1	0
chr1	222540160	222540160	G	A	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon4:c.C1300T:p.R434C,	.	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.96	D	0.773	P	0.833	N	1.000	N	1.15	L	2.47	T	-1.040	T	0.066	T	0.224	1.754	11.82	5.52	2.571	1.185	10.842	0.116	0.00931844103839	0.0005	0.000998403	0.0017	9.61e-05	0.0007	0	0.0002	0.0005	0.0033	0.0097	0.0015136	234	154602	rs141478102	0.0013	0.0013	0.0010	0.0016	0.0095	0.0012	0.0012	0.0090	0.0088	5.974e-05	0.0008	0	7.557e-05	1.872e-05	0.0055	0.0008	0.0013	0.0095	0.0008	0.0008	0.0007	0.0010	0.0087	0.0007	0.0007	0.0066	0.0059	0.0001	0	0.0007	0	0	0	0	0.0010	0	0.0087	0.011	0.55530	D	0.011	0.64786	D	0.96	0.55278	D	0.773	0.56974	P	0.833189	0.09090	N	0.933550	1	0.08975	N	1.525	0.38595	L	2.47	0.14783	T	-3.19	0.64593	D	0.328	0.36884	-1.0397	0.17404	T	0.066	0.27295	T	10	0.0043555796	0.00088	T	0.009318	0.24459	T	0.116	0.32463	.	.	0.204665344411	0.20097	0.6969119667067064	0.69632	0.686539504829	0.60334	0.328037202358	0.14637	T	0.019094	0.15273	T	-0.567534	0.00229	T	-0.580893	0.14465	T	0.077513641420242	0.09666	T	0.957304	0.83911	D	0.09461298	0.22249	0.12050495	0.29081	0.09461298	0.22249	0.12050495	0.29081	-9.645	0.71759	D	.	.	0.114	0.22644	B	.	.	3.479263	0.48577	22.6	0.99861965813836606	0.94002	0.09185	0.14991	N	AEFDBI	0.255313	0.37446	N	-0.0358219529827068	0.40238	2.386212	-0.152604182889507	0.33309	1.903965	0.170114556087587	0.17722	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	0.972000	0.29007	2.712000	0.34244	0.618000	0.50648	0.001000	0.13787	0.141000	0.23092	0.042000	0.14466	0.0:0.1398:0.7157:0.1445	10.842	0.45925	901	0.24189	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1449.98	69	chr1	222540160	.	G	A	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.871e+00;DP=1099;ExcessHet=0.0000;FS=2.285;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=2.39;SOR=0.475	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1464,0,1588	20	0	1	0
chr1	223112787	223112787	G	A	exonic	TLR5	.	nonsynonymous SNV	TLR5:NM_003268:exon6:c.C245T:p.T82I,	.	.	415	1051	54	2	0	58	0.0268519	.	.	707119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.008	B	0.029	B	0.172	N	1.000	N	1.39	L	0.81	T	-1.034	T	0.071	T	0.121	-0.091	3.553	3.1	1.227	1.272	6.566	0.020	.	0.0045	0.00359425	0.0059	0.0018	0.0016	0	0.0008	0.0065	0.0066	0.0139	0.0058602	906	154602	rs764535	0.0065	0.0065	0.0061	0.0069	0.0147	0.0064	0.0063	0.0135	0.0132	0.0011	0.0021	0.0166	7.558e-05	0.0011	0.0147	0.0064	0.0071	0.0141	0.0042	0.0042	0.0042	0.0042	0.0122	0.0040	0.0039	0.0097	0.0088	0.0012	0	0.0030	0.0115	0	0.0005	0.0170	0.0063	0.0052	0.0122	0.115	0.28520	T	0.268	0.22494	T	.	.	.	.	.	.	0.172334	0.17338	N	0.611782	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.54	0.16598	N	0.127	0.14196	-1.0339	0.19205	T	0.071	0.29034	T	10	0.0050294697	0.00108	T	.	.	.	0.020	0.03691	.	.	0.477143196806	0.47344	0.2498123214568168	0.24895	0.0606423343085	0.06746	0.341168403625	0.16612	T	.	.	.	-0.581305	0.00189	T	-0.596104	0.13141	T	0.00138614168513963	0.00014	T	0.659534	0.27772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.31253	B	.;.;.;.	.;.;.;.	1.290308	0.16911	12.84	0.90655103548364624	0.19907	0.06472	0.12481	N	AEFDBI	0.098121	0.19778	N	-0.849757684353521	0.12055	0.5853579	-0.859095531632201	0.13070	0.6759493	0.0619976288686071	0.15249	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.03	3.1	0.34780	1.533000	0.35645	3.780000	0.39787	-0.148000	0.12190	0.005000	0.17040	1.000000	0.68203	0.032000	0.13371	0.1456:0.0:0.6783:0.1761	6.566	0.21709	756	0.51065	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1275.98	45	chr1	223112787	.	G	A	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=987;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.638;SOR=0.692	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1290,0,1277	20	0	1	0
chr1	229558205	229558205	C	A	exonic	ABCB10	.	nonsynonymous SNV	ABCB10:NM_012089:exon1:c.G448T:p.A150S,	.	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.018	B	0.008	B	0.459	N	1.000	N	0.695	N	-2.26	D	-1.024	T	0.053	T	0.127	0.629	7.379	1.59	0.553	0.604	9.593	0.087	.	.	0.0171725	0.0037	0	0	0.01	.	0.0019	0.0167	0.0039	0.0020116	311	154602	rs4148756	0.0041	0.0044	0.0042	0.0041	0.0971	0.0040	0.0040	0.0940	0.0927	0.0006	0.0482	0.0004	0.0971	0.0208	0.0014	0.0005	0.0049	0.0021	0.0072	0.0072	0.0061	0.0084	0.0456	0.0068	0.0067	0.0408	0.0390	0.0012	0	0.0343	0	0.0456	0.0147	0	0.0011	0.0156	0.0043	0.255	0.16848	T	0.299	0.20422	T	0.018	0.17786	B	0.008	0.13708	B	0.459200	0.12412	N	0.710029	1	0.08975	N	0.985	0.24966	L	-2.26	0.87352	D	-0.19	0.09965	N	0.113	0.10056	-1.0237	0.22508	T	0.053	0.22423	T	10	0.0018955469	0.00026	T	.	.	.	0.087	0.25287	.	.	.	.	0.17563211044986582	0.17482	0.338778568637	0.35842	0.753332853317	0.74939	T	0.015786	0.13173	T	-0.403426	0.02198	T	-0.265417	0.48283	T	0.0247504426443428	0.01240	T	0.337566	0.07230	T	0.04225667	0.06374	0.06964805	0.14701	0.04225667	0.06374	0.06964805	0.14700	-5.485	0.41728	T	.	.	0.093	0.14108	B	.	.	0.854645	0.12271	8.811	0.89775729279939165	0.19091	0.03331	0.08406	N	ALL	0.022701	0.01168	N	-1.03960194683951	0.07793	0.3632279	-1.05076203629099	0.08691	0.4285844	0.999999999999807	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.98	1.59	0.22622	0.041000	0.13813	-0.878000	0.07076	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1306:0.651:0.2184:0.0	9.593	0.38722	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	135.99	16	chr1	229558205	.	C	A	135.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.180;DP=372;ExcessHet=0.0000;FS=2.808;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.113e+00;SOR=1.919	GT:AD:DP:GQ:PL	0/1:5,5:10:99:150,0,142	20	0	1	0
chr1	231767229	231767229	C	T	exonic	DISC1	.	nonsynonymous SNV	DISC1:NM_001164556:exon3:c.C308T:p.T103M	.	.	424	1081	17	0	0	17	0.00780174	.	.	3207149	DISC1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.994	D	0.749	P	0.038	N	0.999	N	1.935	M	2.92	T	-1.104	T	0.057	T	0.407	1.989	12.61	3.74	2.063	1.717	9.070	0.114	0.00896775730547	0.0020	0.00139776	0.0035	0.0004	0.0015	0	0.0041	0.0033	0.0033	0.0091	0.0032406	501	154602	rs28930675	0.0039	0.0039	0.0037	0.0041	0.0093	0.0038	0.0038	0.0088	0.0086	0.0005	0.0020	0.0085	5.038e-05	0.0037	0.0038	0.0037	0.0040	0.0093	0.0029	0.0029	0.0027	0.0030	0.0058	0.0026	0.0026	0.0041	0.0036	0.0005	0.0164	0.0017	0.0078	0	0.0053	0	0.0038	0.0028	0.0058	0.122	0.29029	T	0.149	0.74150	T	0.988	0.62325	D	0.59	0.52893	P	0.037752	0.24364	N	0.423266	0.999871	0.19925	N	1.735	0.44892	L	2.28	0.17271	T	-2.09	0.47683	N	0.334	0.39861	-1.1039	0.03651	T	0.057	0.23980	T	10	0.011221498	0.00246	T	0.008968	0.23631	T	0.114	0.32008	.	.	0.400033932507	0.39614	0.1761544871001625	0.17534	0.545902157338	0.51602	0.40287950635	0.25470	T	0.378576	0.74152	T	-0.491059	0.00641	T	-0.470758	0.25434	T	0.0100088228678786	0.00134	T	0.868313	0.57527	D	0.037602905	0.04853	0.08156865	0.18549	0.037602905	0.04852	0.08156865	0.18548	-4.354	0.37717	T	.	.	0.174	0.38208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.576273	0.50395	22.9	0.99821693904679432	0.90414	0.47723	0.28047	N	AEFBI	0.103985	0.20818	N	0.0459471302678091	0.43956	2.678572	-0.0864796244338646	0.35948	2.085954	0.0503693159255797	0.14837	0.615465	0.37627	0	0.610034	0.51514	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	1.725000	0.37696	0.824000	0.21882	0.596000	0.33519	0.457000	0.26620	0.000000	0.08366	0.444000	0.27761	0.0:0.8923:0.0:0.1077	9.070	0.35647	827	0.39843	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	33	chr1	231767229	.	C	T	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-02;DP=829;ExcessHet=0.0000;FS=1.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.882;SOR=0.551	GT:AD:DP:GQ:PL	0/1:64,78:142:99:1978,0,1538	20	0	1	0
chr1	234608869	234608869	G	C	exonic	IRF2BP2	.	nonsynonymous SNV	IRF2BP2:NM_001077397:exon1:c.C626G:p.A209G	.	.	441	1080	1	0	0	1	0.000462749	.	.	1403978	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.011	B	0.007	B	0.321	U	0.547	D	-0.345	N	1.46	T	-1.041	T	0.040	T	0.11	1.881	12.25	2.5	1.366	6.888	10.669	0.100	0.382243108153	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs531077036	4.198e-05	4.31e-05	3.658e-05	4.773e-05	0.0003	3.213e-05	2.895e-05	5.81e-05	3.498e-05	0.0002	0	0	0	0	0.0003	3.996e-05	0.0001	0	9.882e-05	9.849e-05	5.155e-05	0.0001	0.0003	6.022e-05	4.892e-05	0.0001	8.306e-05	2.409e-05	0	0.0003	0	0	0	0.0068	7.371e-05	0.0009	0	0.288	0.15098	T	0.514	0.10678	T	0.011	0.15914	B	0.007	0.12992	B	0.321468	0.04077	U	1.732920	0.547114	0.32102	D	0.55	0.14455	N	1.46	0.32238	T	-0.5	0.15782	N	0.144	0.14480	-1.0413	0.16921	T	0.040	0.17404	T	10	0.10216743	0.18710	T	0.382243	0.92999	D	0.100	0.28662	0.101	0.01536	0.346768085243	0.34289	0.15976935224882233	0.15897	2.12493175433	0.95057	0.860980629921	0.91256	D	0.009867	0.08954	T	-0.243517	0.14904	T	-0.587572	0.13877	T	0.242280734701884	0.22524	T	0.50185	0.15733	T	0.0923582	0.21664	0.12716946	0.30616	0.0923582	0.21664	0.12716946	0.30615	-3.751	0.20491	T	.	.	0.140	0.30582	B	.;.	.;.	3.415900	0.47403	22.5	0.98170945733388248	0.38856	0.88103	0.47886	D	AEFDBHCI	0.184945	0.31227	N	-0.473405560726205	0.22955	1.229305	-0.350517481868767	0.26493	1.463689	0.999999999999888	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	2.5	2.5	0.29355	3.734000	0.54760	10.589000	0.83461	0.531000	0.24825	0.708000	0.28703	1.000000	0.68203	0.605000	0.31514	0.0:0.0:1.0:0.0	10.669	0.44942	917	0.20147	.;.	.	.	.	.	.	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	0.02381	252.98	37	chr1	234608869	.	G	C	252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=667;ExcessHet=0.0000;FS=2.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.46;ReadPosRankSum=0.221;SOR=0.525	GT:AD:DP:GQ:PL	0/1:4,9:13:72:267,0,72	20	0	1	0
chr1	235808528	235808528	G	A	exonic	LYST	.	nonsynonymous SNV	LYST:NM_000081:exon5:c.C2290T:p.H764Y	Chediak-Higashi syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.279	U	0.996	N	-1.04	N	1.36	T	-0.990	T	0.070	T	0.077	-0.366	2.275	2.5	0.803	5.204	7.132	0.201	0.00782293206445	.	.	8.249e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs765210466	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.279260	0.14976	U	0.536654	0.999151	0.23000	N	0.57	0.15267	N	-0.29	0.67712	T	-0.1	0.08495	N	0.172	0.26717	-0.9902	0.32551	T	0.070	0.28609	T	10	0.047809064	0.04148	T	0.007823	0.20747	T	0.201	0.48592	0.372	0.38340	0.334885890373	0.33091	0.060677835654987446	0.06007	0.0895148867953	0.10113	0.276043534279	0.06946	T	0.03607	0.23962	T	-0.347631	0.04877	T	-0.555596	0.16792	T	0.0190290817666094	0.00612	T	0.717528	0.33902	T	0.029255295	0.02391	0.044867843	0.05910	0.029255295	0.02390	0.044867843	0.05910	-4.303	0.28219	T	0.04382909782748321	0.00503	0.070	0.04436	B	.;.	.;.	1.170382	0.15598	11.97	0.25656443149406671	0.01193	0.74684	0.36541	D	AEFDBHCI	0.197902	0.32479	N	-0.867488518707189	0.11623	0.5618757	-0.700773581987136	0.16941	0.8985693	0.479145507836594	0.20771	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.8	2.5	0.29355	5.235000	0.65175	4.965000	0.46365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.4408:0.0:0.5592:0.0	7.132	0.24686	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1710.98	35	chr1	235808528	.	G	A	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.910e-01;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-2.100e-02;SOR=0.717	GT:AD:DP:GQ:PL	0/1:52,67:119:99:1725,0,1253	20	0	1	0
chr1	236595551	236595551	T	C	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon8:c.A1079G:p.H360R,	.	.	428	1081	13	0	0	13	0.00597701	.	.	732292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.001	B	0.070	N	1.000	N	0.55	N	3.6	T	-1.033	T	0.114	T	0.075	-1.034	0.214	2.66	0.390	0.229	9.088	0.013	.	0.0023	0.00459265	0.0047	0.0007	0.0010	0.0005	0.0076	0.0043	0.0078	0.0121	0.0043078	666	154602	rs149968331	0.0038	0.0039	0.0036	0.0041	0.0103	0.0038	0.0037	0.0098	0.0095	0.0005	0.0008	0.0012	0.0003	0.0065	0.0038	0.0036	0.0038	0.0103	0.0031	0.0031	0.0030	0.0032	0.0116	0.0029	0.0028	0.0092	0.0083	0.0006	0	0.0007	0.0009	0.0002	0.0061	0	0.0045	0.0024	0.0116	0.522	0.07211	T	0.724	0.05274	T	0.001	0.07471	B	0.001	0.04355	B	0.069711	0.21588	N	0.515771	1	0.08975	N	1.355	0.33814	L	3.6	0.65006	T	-0.03	0.07444	N	0.054	0.06322	-1.0331	0.19459	T	0.114	0.40536	T	10	0.0029285252	0.00047	T	.	.	.	0.013	0.01715	.	.	0.354648800996	0.35079	0.17325651060770392	0.17245	0.114739544622	0.12943	0.277621328831	0.07163	T	0.003	0.02196	T	-0.568947	0.00225	T	-0.580634	0.14487	T	0.00147879802912921	0.00015	T	0.573543	0.20808	T	0.019498333	0.00482	0.03531078	0.02758	0.019498333	0.00482	0.03531078	0.02758	-4.136	0.25819	T	.	.	0.059	0.01075	B	.;.	.;.	0.416863	0.07875	4.577	0.23157972507023758	0.00966	0.10015	0.15635	N	AEFBI	0.039491	0.05742	N	-0.888746877124659	0.11109	0.5343691	-0.823336834505006	0.13930	0.725281	0.143877173613143	0.17323	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	2.66	0.30672	0.196000	0.16979	-0.152000	0.11409	0.609000	0.47794	0.000000	0.06391	0.610000	0.25763	0.947000	0.49155	0.0:0.1502:0.0:0.8498	9.088	0.35757	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1851.11	34	chr1	236595551	.	T	C	1851.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.620e-01;DP=798;ExcessHet=0.1072;FS=0.634;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.953;SOR=0.796	GT:AD:DP:GQ:PL	0/1:33,37:70:99:899,0,823	19	0	2	0
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,17,0:19:8:.:.:521,8,0,527,51,571	4	1	8	7
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.288	B	0.157	B	0.015	N	1.000	N	1.59	L	0.96	T	-1.004	T	0.097	T	0.474	1.753	11.82	5.78	2.206	4.328	12.493	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1429	1231.01	149	chr1	243330649	.	T	C	1231.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.731e+00;DP=2188;ExcessHet=1.7912;FS=129.457;InbreedingCoeff=-0.1662;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.02;ReadPosRankSum=1.60;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,36:182:99:.:.:224,0,3111	15	0	6	0
chr1	246843863	246843863	T	A	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon34:c.A6457T:p.I2153F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.0	B	0.0	B	0.454	N	1.000	N	-1.67	N	1.92	T	-1.001	T	0.010	T	0.038	-2.040	0.006	-4.19	-1.033	0.359	0.498	0.040	0.00344914572862	.	0.000199681	7.161e-05	0	0	0.0010	0	0	0	0	5.82e-05	9	154602	rs201853355	1.399e-05	1.71e-05	1.167e-05	1.634e-05	0.0005	8.95e-06	7.21e-06	0.0003	0.0003	0	0	0	0.0005	0	0	0	1.803e-05	0	3.284e-05	3.281e-05	2.571e-05	4.03e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0002	0	0	0	0	0.0010	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	0.454085	0.12471	N	0.760291	0.999931	0.19363	N	-1.095	0.01012	N	1.9	0.23486	T	0.58	0.02598	N	0.085	0.06190	-1.0010	0.29631	T	0.010	0.03673	T	10	0.010801256	0.00239	T	0.003449	0.07786	T	0.040	0.10527	0.328	0.31196	0.082315109003	0.07666	0.060181362320516255	0.05958	0.383364715354	0.39662	0.248129919171	0.03573	T	0.038846	0.24984	T	-0.632871	0.00092	T	-0.758557	0.03164	T	0.179500803351402	0.19203	T	0.555444	0.19245	T	0.029862862	0.02551	0.033316668	0.02205	0.029862862	0.02550	0.033316668	0.02205	-4.114	0.25496	T	.	.	0.082	0.08802	B	.;.;.	.;.;.	-0.100539	0.03638	0.724	0.50912197118704317	0.04468	0.16213	0.19284	N	AEFGBI	0.034931	0.04411	N	-1.72905958213654	0.00743	0.03210848	-1.62320792093669	0.01520	0.06883614	0.00190143236317736	0.08993	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.03	-4.19	0.03573	0.477000	0.21906	0.517000	0.19131	-0.909000	0.02273	0.969000	0.34210	0.562000	0.25526	0.230000	0.22734	0.3612:0.2504:0.1438:0.2447	0.498	0.00536	813	0.42397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	449.98	27	chr1	246843863	.	T	A	449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=688;ExcessHet=0.0000;FS=1.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-7.100e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,19:31:99:464,0,238	20	0	1	0
chr1	246850284	246850284	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.A5722G:p.S1908G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.041	B	0.027	B	0.192	N	1.000	N	1.645	L	1.46	T	-1.030	T	0.058	T	0.065	0.566	7.058	-0.736	-0.137	0.037	8.213	0.049	0.00845439933968	.	0.000199681	2.481e-05	0	0	0	0	4.507e-05	0	0	2.59e-05	4	154602	rs556728227	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0005	7.09e-06	5.79e-06	0.0001	7.55e-05	0	0	3.827e-05	0	0	0.0005	1.079e-05	1.656e-05	0	6.564e-06	6.561e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.292	0.14894	T	0.438	0.13403	T	0.002	0.09854	B	0.004	0.10090	B	0.192303	0.16814	N	0.631744	1	0.08975	N	2.215	0.62545	M	1.46	0.32238	T	-1.36	0.33798	N	0.176	0.18920	-1.0305	0.20292	T	0.058	0.24354	T	10	0.026807249	0.00839	T	0.008454	0.22357	T	0.049	0.13647	0.284	0.24121	0.390913227754	0.38705	0.13992800448098444	0.13915	0.299827209354	0.32349	0.251892089844	0.03970	T	0.103445	0.41211	T	-0.337324	0.05576	T	-0.658673	0.08356	T	0.0601314868042542	0.07190	T	0.570643	0.20320	T	0.08352823	0.19292	0.050494667	0.07936	0.08352823	0.19291	0.050494667	0.07935	-3.66	0.18729	T	.	.	0.082	0.08754	B	.;.;.	.;.;.	1.078203	0.14608	11.17	0.94760743360606758	0.25470	0.13548	0.17918	N	AEFDGBI	0.079973	0.16163	N	-0.779027966621201	0.13858	0.6857737	-0.794761865602009	0.14623	0.7650374	0.986966286311861	0.31159	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.81	-0.736	0.10572	0.091000	0.14885	-0.207000	0.10889	0.651000	0.53179	0.034000	0.20669	0.000000	0.08366	0.948000	0.49324	0.0:0.1231:0.5237:0.3533	8.213	0.30657	824	0.40336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1445.98	36	chr1	246850284	.	T	C	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=852;ExcessHet=0.0000;FS=4.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.31;MQRankSum=-1.982e+00;QD=13.39;ReadPosRankSum=0.280;SOR=0.390	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1460,0,1401	20	0	1	0
chr1	247605721	247605721	A	G	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.A136G:p.I46V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.075	B	0.063	B	0.144	U	1.000	N	2.3	M	6.19	T	-0.985	T	0.004	T	0.132	0.918	8.736	2.38	1.656	-0.091	7.474	0.043	0.00125928518304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.078	0.42261	T	0.075	0.24198	B	0.063	0.27082	B	0.143702	0.18202	U	0.383853	1	0.08975	N	1.795	0.47270	L	6.19	0.00575	T	-0.76	0.21215	N	0.053	0.02462	-0.9852	0.33784	T	0.004	0.01159	T	10	0.07049534	0.10262	T	0.001259	0.01708	T	0.043	0.11576	0.425	0.47021	0.43656330218	0.43278	0.07785681555899948	0.07721	0.0513725218278	0.05653	0.233400076628	0.02229	T	0.005795	0.05238	T	-0.327857	0.06275	T	-0.70872	0.05361	T	0.0833905339241028	0.10415	T	0.623338	0.24021	T	0.13671778	0.31682	0.11759155	0.28387	0.13671778	0.31682	0.11759155	0.28386	-4.792	0.34498	T	.	.	0.115	0.22861	B	.	.	0.669848	0.10384	7.108	0.81902043633589383	0.13918	0.01074	0.03973	N	AEFI	0.045278	0.07387	N	-0.615216073637153	0.18487	0.9601671	-0.701323397649392	0.16928	0.8977724	1.4683354626854E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.64	2.38	0.28415	-1.921000	0.01661	.	.	0.624000	0.51786	0.000000	0.06391	0.000000	0.08366	0.113000	0.18872	0.8067:0.0:0.0:0.1933	7.474	0.26533	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	139.06	34	chr1	247605721	.	A	G	139.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.533e+00;DP=1349;ExcessHet=0.0000;FS=131.245;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=1.80;SOR=6.357	GT:AD:DP:GQ:PL	0/1:180,48:228:99:153,0,3571	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,51:212:99:0|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:1675,2160,8920,0,6760,6592:248361635	8	0	1	1
chr1	248441549	248441549	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G433A:p.V145I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00371720766164	.	.	9.967e-05	0.0003	0	0	0	4.502e-05	0	0.0004	.	.	.	rs189738420	3.7e-05	5.679e-05	3.682e-05	3.718e-05	0.0003	2.898e-05	2.596e-05	0.0002	0.0001	0.0003	4.475e-05	3.831e-05	0	0	0	1.8e-05	9.95e-05	0.0002	6.921e-05	0.0001	4.061e-05	9.915e-05	0.0002	3.693e-05	2.845e-05	7.503e-05	5.068e-05	0.0002	0	6.704e-05	0	0	0	0	2.951e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1455.98	42	chr1	248441549	.	G	A	1455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=2437;ExcessHet=0.0000;FS=3.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.45;MQRankSum=7.15;QD=14.42;ReadPosRankSum=2.75;SOR=0.815	GT:AD:DP:GQ:PL	0/1:43,58:101:99:1470,0,869	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.253	B	0.044	B	.	.	1.000	N	-0.205	N	8.7	T	-1.142	T	0.000	T	0.07	-0.087	3.575	-4.21	-0.819	0.062	4.529	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	0.02778	2076.11	43	chr1	248473955	.	C	T	2076.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.15;DP=1763;ExcessHet=0.0000;FS=0.511;InbreedingCoeff=0.3247;MLEAC=1;MLEAF=0.028;MQ=55.47;MQRankSum=-1.048e+01;QD=9.35;ReadPosRankSum=1.69;SOR=0.769	GT:AD:DP:GQ:PL	0/1:137,85:222:99:2089,0,3529	17	0	1	3
chr2	27040384	27040384	C	T	exonic	TMEM214	.	nonsynonymous SNV	TMEM214:NM_001083590:exon15:c.C1696T:p.R566C	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.983	D	0.491	P	0.275	N	1.000	N	0.69	N	0.89	T	-1.068	T	0.079	T	0.392	2.836	15.44	4.08	0.847	0.416	6.785	0.175	.	.	0.00199681	0.0015	0	8.639e-05	0	0	4.497e-05	0.0011	0.0110	0.0013066	202	154602	rs200131734	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0098	0.0096	2.987e-05	2.236e-05	0	2.519e-05	0	0.0005	3.507e-05	0.0007	0.0103	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0	2.939e-05	0	0.0120	0.126	0.33585	T	0.103	0.38305	T	0.002	0.60381	B	0.001	0.47360	B	0.275367	0.15047	N	0.696046	1	0.08975	N	1.1	0.28011	L	0.89	0.45636	T	-1.6	0.39314	N	0.118	0.13055	-1.0677	0.09926	T	0.079	0.31284	T	10	0.004383087	0.00089	T	.	.	.	0.175	0.44197	0.502	0.59460	0.195762928549	0.19159	0.10064077174199151	0.09995	0.177633600203	0.19989	0.197326987982	0.00383	T	0.023571	0.17967	T	-0.48477	0.00694	T	-0.45972	0.26629	T	0.0403031622488279	0.03745	T	0.377862	0.17685	T	0.04778574	0.08224	0.035694137	0.02870	0.04778574	0.08224	0.035694137	0.02869	-3.803	0.20969	T	.	.	0.062	0.03736	B	.;.;.	.;.;.	2.131516	0.27137	17.36	0.9954901303619399	0.71023	0.20466	0.21051	N	AEFDBCI	0.146460	0.26991	N	-0.718916181141905	0.15490	0.7811155	-0.744422756604693	0.15858	0.836185	0.999993985263133	0.74766	0.732398	0.92422	0	0.696144	0.67643	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.08	0.46880	0.414000	0.20885	1.097000	0.24034	-0.805000	0.03119	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7003:0.1443:0.1555	6.785	0.22856	441	0.80015	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1718.98	36	chr2	27040384	.	C	T	1718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=996;ExcessHet=0.0000;FS=3.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=0.00;SOR=0.968	GT:AD:DP:GQ:PL	0/1:101,71:172:99:1733,0,2385	20	0	1	0
chr2	29017266	29017266	C	G	exonic	TOGARAM2	.	nonsynonymous SNV	TOGARAM2:NM_001321538:exon9:c.C1157G:p.S386C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.82	P	0.518	P	.	.	1.000	N	0.895	L	2.95	T	-1.057	T	0.028	T	0.063	1.533	11.08	3.94	2.382	0.888	8.156	0.067	0.00849498452251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.063	0.45110	T	0.726	0.42471	P	0.156	0.34472	B	.	.	.	.	1	0.08975	N	.	.	.	2.95	0.09635	T	-1.85	0.43334	N	0.119	0.10911	-1.0569	0.12543	T	0.028	0.11971	T	9	0.13990405	0.26596	T	0.008495	0.22457	T	0.067	0.19503	0.375	0.38830	0.0846915920261	0.08053	0.09958468488003487	0.09889	0.0549770881719	0.06090	0.303055882454	0.10858	T	0.01183	0.10494	T	-0.352141	0.04594	T	-0.743603	0.03741	T	0.220746066501971	0.21501	T	0.319468	0.06419	T	0.1205801	0.28370	0.117188975	0.28290	0.1205801	0.28370	0.117188975	0.28289	-5.568	0.42499	T	.	.	0.094	0.14614	B	.	.	1.520561	0.19520	14.31	0.76804278575346174	0.11616	0.15089	0.18738	N	AEFDBI	0.103339	0.20706	N	-0.308926171765287	0.28807	1.592088	-0.389188456459136	0.25318	1.391607	0.690791471117043	0.22586	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.84	3.94	0.44807	0.333000	0.19512	0.988000	0.23172	0.530000	0.24713	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8083:0.0:0.1917	8.156	0.30332	443	0.79878	.	.	.	.	.	.	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	0.02381	992.98	36	chr2	29017266	.	C	G	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.82;ReadPosRankSum=-3.580e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:32,35:67:99:1007,0,888	20	0	1	0
chr2	46375695	46375695	A	G	exonic	EPAS1	.	nonsynonymous SNV	EPAS1:NM_001430:exon8:c.A892G:p.T298A,	Erythrocytosis, familial, 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.003	B	0.000	D	1.000	D	0.735	N	2.3	T	-1.042	T	0.025	T	0.102	1.687	11.60	4.16	2.018	2.200	7.058	0.072	0.0042826507542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.13349	T	0.623	0.07368	T	0.0	0.02946	B	0.003	0.08700	B	0.000007	0.62929	D	0.107851	0.999795	0.49177	D	0.23	0.09627	N	2.3	0.16953	T	-1.16	0.29727	N	0.24	0.27077	-1.0418	0.16770	T	0.025	0.10821	T	10	0.19733101	0.35660	T	0.004283	0.10373	T	0.072	0.21020	0.361	0.36548	0.472463234578	0.46874	0.16872347165134782	0.16792	0.134183297464	0.15117	0.666919648647	0.62398	T	0.298254	0.67082	T	-0.28624	0.10017	T	-0.648941	0.09028	T	0.230057457473153	0.21954	T	0.690631	0.30012	T	0.22668155	0.45354	0.12353774	0.29789	0.22668155	0.45354	0.12353774	0.29788	-4.855	0.35225	T	.	.	0.065	0.02038	B	.	.	2.584421	0.33511	19.36	0.95705878692570334	0.27605	0.86094	0.45311	D	AEFDGBI	0.372398	0.45806	N	-0.239020340540555	0.31545	1.769821	-0.0438480063783811	0.37758	2.215104	0.998746133642151	0.37581	0.706548	0.73137	0	0.59043	0.45803	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.31	4.16	0.48138	2.208000	0.42436	4.182000	0.42344	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.7732:0.0:0.2268:0.0	7.058	0.24288	907	0.22727	PAS fold-3|PAS domain|PAS domain|PAS domain|PAS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	35	chr2	46375695	.	A	G	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.100;DP=755;ExcessHet=0.0000;FS=3.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-9.100e-01;SOR=1.329	GT:AD:DP:GQ:PL	0/1:30,30:60:99:702,0,729	20	0	1	0
chr2	48580986	48580986	G	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.G353T:p.G118V	.	.	432	1026	62	2	0	66	0.0311615	.	.	733507	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.938	D	0.074	N	1.000	N	1.955	M	2.83	T	-1.112	T	0.051	T	0.277	0.527	6.852	1.94	0.306	0.246	9.474	0.030	.	0.0026	0.00778754	0.0054	0.0013	0.0018	0.0001	0.0003	0.0040	0.0037	0.0300	0.0054851	848	154602	rs72824125	0.0049	0.0050	0.0044	0.0055	0.0274	0.0048	0.0048	0.0265	0.0261	0.0008	0.0021	0.0022	7.622e-05	0.0006	0.0149	0.0039	0.0057	0.0274	0.0040	0.0040	0.0036	0.0044	0.0297	0.0037	0.0036	0.0257	0.0242	0.0009	0	0.0058	0.0040	0	0.0003	0.0034	0.0044	0.0104	0.0297	0.002	0.78490	D	0.019	0.62352	D	0.679	0.50421	P	0.186	0.50118	B	0.073959	0.21314	N	0.440845	0.999999	0.08975	N	2.555	0.74557	M	2.67	0.12988	T	-2.11	0.48020	N	0.281	0.31925	-1.1121	0.02895	T	0.051	0.21806	T	10	0.004071653	0.00080	T	.	.	.	0.030	0.07022	.	.	0.461583377977	0.45782	0.30531859660048793	0.32329	0.00635658170257	0.00556	0.266003608704	0.05627	T	0.074824	0.35030	T	-0.530244	0.00383	T	-0.513485	0.20957	T	0.0225075360226289	0.00965	T	0.720328	0.33319	T	0.057194978	0.11353	0.089182906	0.20839	0.057194978	0.11352	0.089182906	0.20839	-2.982	0.09988	T	0.335890859238464	0.43380	0.098	0.26978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.091475	0.04949	1.519	0.98612776587068196	0.43664	0.28104	0.23462	N	AEFBI	0.125934	0.24266	N	-0.309415810970022	0.28789	1.590911	-0.495834929041824	0.22269	1.20867	0.00737552665866971	0.11451	0.706548	0.73137	0	0.610034	0.51514	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.81	1.94	0.25058	0.279000	0.18532	0.831000	0.21948	0.665000	0.62972	0.005000	0.17040	0.853000	0.27411	0.112000	0.18829	0.0748:0.2703:0.655:0.0	9.474	0.38027	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	5984.11	167	chr2	48580986	.	G	T	5984.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.835e+00;DP=2384;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.020e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:120,82:202:99:2192,0,3505	19	0	2	0
chr2	55598923	55598923	T	G	exonic	PPP4R3B	.	nonsynonymous SNV	PPP4R3B:NM_001122964:exon4:c.A414C:p.E138D	.	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.864	P	0.515	P	0.000	D	1.000	D	1.75	L	0.91	T	-1.033	T	0.116	T	0.646	2.596	14.64	4.7	1.044	3.215	8.111	0.120	0.00890701082331	0.0010	0.000599042	0.0013	0.0003	0.0003	0	0.0011	0.0016	0	0.0026	0.0012678	196	154602	rs142053846	0.0014	0.0014	0.0013	0.0016	0.0116	0.0014	0.0014	0.0094	0.0086	0.0003	0.0004	0.0005	2.519e-05	0.0006	0.0116	0.0014	0.0013	0.0036	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0019	0.0015	0.0005	0	0.0006	0.0003	0	0.0008	0.0068	0.0014	0.0005	0.0031	.	.	.	0.074	0.43721	T	0.254	0.47514	B	0.139	0.48040	B	0.000000	0.84330	D	0.045266	0.999995	0.58761	D	1.565	0.39561	L	.	.	.	.	.	.	0.755	0.79406	-1.0332	0.19427	T	0.116	0.40964	T	10	0.01495111	0.00314	T	0.008907	0.23487	T	.	.	0.294	0.25720	0.0675242888579	0.06100	0.37469004499905845	0.37383	.	.	0.774838447571	0.78149	T	0.346464	0.71472	T	-0.223585	0.17507	T	-0.0966774	0.63655	T	0.0209089633878334	0.00792	T	0.968503	0.88585	D	0.28782153	0.51789	0.23290421	0.48465	0.28782153	0.51789	0.23290421	0.48464	-6.093	0.48952	T	.	.	0.115	0.31857	B	.;.;.	.;.;.	4.427123	0.68622	25.3	0.99318157389194317	0.59279	0.94854	0.62560	D	AEFBI	0.451938	0.50571	N	0.07798259455413	0.45437	2.800244	0.178652505925156	0.48679	3.080571	0.0323152907130871	0.14049	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.231000	0.50995	5.117000	0.47558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.2141:0.0:0.7859	8.111	0.30076	333	0.86326	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2903.11	34	chr2	55598923	.	T	G	2903.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.707;DP=853;ExcessHet=0.1072;FS=3.339;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.36;ReadPosRankSum=0.494;SOR=0.947	GT:AD:DP:GQ:PL	0/1:34,48:82:99:1328,0,874	19	0	2	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	.	2	1463	52	5	0	62	0.0207497	.	.	177215	not_specified|not_provided|Retinitis_pigmentosa_28|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.787	P	0.219	B	.	.	1.000	N	0.55	N	2.68	T	-1.062	T	0.022	T	0.222	2.752	15.16	2.64	0.666	1.182	4.634	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	260	0.89800	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	639.98	34	chr2	61842347	.	G	A	639.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=778;ExcessHet=0.0000;FS=3.327;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.41;ReadPosRankSum=-1.402e+00;SOR=1.405	GT:AD:DP:GQ:PL	0/1:17,22:39:99:654,0,436	20	0	1	0
chr2	73079688	73079688	C	A	exonic	RAB11FIP5	.	stopgain	RAB11FIP5:NM_001371272:exon4:c.G3544T:p.E1182X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.450121	0.98939	41	0.86384216818255721	0.16500	0.97947	0.78343	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999763820501	0.74766	0.295142	0.05270	0	0.059962	0.00310	0	0.129117	0.03641	0	0.322829	0.05601	0	0.980713	0.86072	4.83	4.83	0.61880	5.141000	0.64655	7.584000	0.61047	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.023	0.86313	566	0.70798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	32.07	89	chr2	73079688	.	C	A	32.07	.	AC=2;AF=0.053;AN=38;DP=89;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2677;MLEAC=1;MLEAF=0.026;MQ=60.00;QD=16.03;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	18	1	0	2
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/1:3,5,0:8:99:201,0,111,210,126,336	13	0	6	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/3:0,9,0,13,0,0:22:99:831,527,510,847,535,879,326,0,361,349,847,535,879,361,879,847,535,879,361,879,879	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/3:0,9,0,13,0,0:22:99:831,527,510,847,535,879,326,0,361,349,847,535,879,361,879,847,535,879,361,879,879	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/3:0,9,0,13,0,0:22:99:831,527,510,847,535,879,326,0,361,349,847,535,879,361,879,847,535,879,361,879,879	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	1/3:0,9,0,13,0,0:22:99:831,527,510,847,535,879,326,0,361,349,847,535,879,361,879,847,535,879,361,879,879	0	4	5	0
chr2	73450755	73450755	G	C	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.G4228C:p.A1410P	Alstrom syndrome, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	518725	not_specified|not_provided|Alstrom_syndrome|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.002	B	0.004	B	0.341	N	1.000	N	1.32	L	3.04	T	-1.020	T	0.036	T	0.407	1.902	12.32	-4.64	-1.097	-5.431	2.348	0.034	0.00335238166928	0.0002	.	0.0001	0.0001	8.646e-05	0	0	0.0002	0.0011	0	0.00011	17	154602	rs201517720	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0032	0.0027	0.0003	0.0002	0.0002	0	0.0002	0.0045	0.0002	0.0004	3.479e-05	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0002	0	0	9.634e-05	0.0035	0.0002	0.0014	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	0.341122	0.04188	N	1.475930	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.115	0.10483	-1.0199	0.23747	T	0.036	0.15422	T	10	0.043635845	0.03233	T	0.003352	0.07482	T	.	.	.	.	0.0666544352282	0.05500	0.09458552394916472	0.09390	.	.	0.217593073845	0.01175	T	0.030933	0.21808	T	-0.343857	0.05125	T	-0.438216	0.29010	T	0.0151528957104302	0.00330	T	0.531147	0.17633	T	0.055210277	0.10700	0.05998265	0.11350	0.055210277	0.10699	0.05998265	0.11349	-5.986	0.46163	T	.	.	0.208	0.43503	B	.;.;.	.;.;.	-0.709755	0.01299	0.070	0.96518451477105494	0.30105	0.01323	0.04570	N	AEFBI	0.061240	0.11693	N	-1.341008907698	0.03219	0.1434229	-1.47231360268252	0.02574	0.1186074	0.999234669968735	0.38840	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.85	-4.64	0.03109	-4.109000	0.00332	-20.000000	0.00162	-1.066000	0.01605	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2844:0.4129:0.183:0.1196	2.348	0.04016	492	0.76569	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	7564.11	35	chr2	73450755	.	G	C	7564.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.418e+00;DP=3682;ExcessHet=0.1072;FS=1.733;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=1.19;SOR=0.824	GT:AD:DP:GQ:PL	0/1:142,118:260:99:3141,0,4161	19	0	2	0
chr2	73813771	73813771	G	C	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon2:c.G392C:p.S131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.131	B	0.033	B	0.158	U	1.000	N	0.55	N	1.6	T	-1.012	T	0.054	T	0.116	-0.190	3.074	-0.452	0.065	0.667	12.595	0.015	0.00503906646793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.119	0.36101	T	0.131	0.27154	B	0.033	0.22329	B	0.157897	0.03015	U	3.003720	1	0.08975	N	0.345	0.11182	N	1.6	0.28604	T	0.4	0.03463	N	0.202	0.22357	-1.0120	0.26291	T	0.054	0.22770	T	10	0.05466765	0.05857	T	0.005039	0.12753	T	0.015	0.02232	0.187	0.09646	0.136095386433	0.13204	0.01630288046249083	0.01586	0.092439961604	0.10434	.	.	.	0.018469	0.14885	T	-0.323279	0.06633	T	-0.702144	0.05709	T	0.203417003154755	0.20603	T	0.255075	0.03944	T	0.042089514	0.06321	0.048057646	0.07059	0.042089514	0.06321	0.048057646	0.07058	-3.997	0.23759	T	.	.	0.077	0.06250	B	.	.	0.316162	0.06908	3.450	0.76723545469039522	0.11583	0.03529	0.08717	N	AEFDBI	0.035684	0.04635	N	-1.15642876242858	0.05675	0.2593203	-1.17536692888712	0.06323	0.3040222	0.987021049617479	0.31170	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.29	-0.452	0.11596	0.425000	0.21065	-1.485000	0.05333	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.6105:0.3895	12.595	0.55819	400	0.82730	.	.	.	.	.	.	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	1	0	0	0	0.02381	2519.98	34	chr2	73813771	.	G	C	2519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.442e+00;DP=808;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.66;ReadPosRankSum=-2.230e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/1:37,85:122:99:2534,0,982	20	0	1	0
chr2	74493013	74493013	C	G	exonic	TTC31	.	nonsynonymous SNV	TTC31:NM_001376144:exon11:c.C839G:p.P280R	.	.	416	1060	44	2	0	48	0.0221402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.697	P	0.202	B	0.869	N	1.000	N	0.55	N	0.35	T	-1.062	T	0.056	T	0.401	1.659	11.51	-0.268	-0.138	0.210	6.064	0.003	0.00783060821639	0.0017	0.00139776	0.0013	0.0004	0.0015	0	0	0.0018	0.0067	0.0004	0.0011966	185	154602	rs183395059	0.0012	0.0012	0.0011	0.0012	0.0296	0.0011	0.0011	0.0260	0.0246	0.0018	0.0020	0.0028	0	7.488e-05	0.0296	0.0010	0.0029	0.0007	0.0011	0.0011	0.0011	0.0010	0.0027	0.0009	0.0009	0.0021	0.0019	0.0007	0	0.0027	0.0012	0	9.413e-05	0.0136	0.0011	0.0043	0.0002	0.025	0.47320	D	0.072	0.43344	T	0.171	0.28729	B	0.029	0.21540	B	0.869201	0.07165	N	1.074830	1	0.08975	N	0.55	0.14455	N	0.35	0.58029	T	0.52	0.02853	N	0.061	0.03283	-1.0624	0.11166	T	0.056	0.23715	T	10	0.004458189	0.00091	T	0.007831	0.20773	T	0.067	0.19503	.	.	0.353336612579	0.34937	0.2524848523440766	0.25162	0.142675067835	0.16090	0.431733429432	0.29446	T	0.002507	0.01894	T	-0.418802	0.01741	T	-0.393371	0.34157	T	0.00167127464486619	0.00017	T	0.455254	0.13018	T	0.023714751	0.01135	0.03514842	0.02713	0.023714751	0.01135	0.03514842	0.02712	-4.028	0.24221	T	.	.	0.095	0.15115	B	.	.	0.125822	0.05223	1.731	0.97619587196554325	0.34954	0.03072	0.07984	N	AEFBI	0.055863	0.10280	N	-1.15336938138376	0.05725	0.2617276	-1.23526001286072	0.05353	0.2548353	0.988394439570794	0.31502	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.62	-0.268	0.12295	0.054000	0.14087	-0.033000	0.12769	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3858:0.0:0.6142	6.064	0.19077	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1007.98	34	chr2	74493013	.	C	G	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.857e+00;DP=794;ExcessHet=0.0000;FS=2.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.653;SOR=1.127	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1022,0,1162	20	0	1	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,19:245:99:0|1:94876587_C_A:118,0,9433:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	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	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,20:259:99:0|1:94876587_C_A:120,0,9935:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,28:301:99:0|1:94876670_C_T:354,0,11210:94876670	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	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	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:260,33:293:99:.:.:602,0,10681	2	0	19	0
chr2	95275973	95275973	C	T	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.C338T:p.A113V	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.999	D	0.000	D	1.000	N	2.3	M	0.89	T	-0.903	T	0.213	T	0.432	2.544	14.47	3.82	2.176	1.905	10.096	0.242	0.0172888577174	7.7e-05	0.000998403	0.0010	0	9.831e-05	0	0	5.003e-05	0	0.0067	0.0007438	115	154602	rs201610848	0.0004	0.0004	0.0002	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	5.974e-05	0	0	0	0	0.0007	2.339e-05	0.0003	0.0061	0.0002	0.0002	0.0001	0.0003	0.0060	0.0002	0.0001	0.0043	0.0037	4.81e-05	0	0	0	0	0	0	4.41e-05	0	0.0060	0.006	0.61437	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000013	0.62929	D	0.000000	0.999996	0.08975	N	2.885	0.83555	M	0.89	0.45636	T	-2.91	0.60982	D	0.594	0.61341	-0.9026	0.47717	T	0.213	0.57401	T	10	0.013026059	0.00278	T	0.017289	0.38928	T	0.242	0.54781	.	.	0.511162291539	0.50756	0.7529631065999528	0.75243	0.624608782655	0.56662	0.461144626141	0.33468	T	0.155153	0.49675	T	-0.417625	0.01772	T	-0.369776	0.36914	T	0.176062120801811	0.18983	T	0.767123	0.39533	T	0.25673386	0.48715	0.24931781	0.50500	0.25673386	0.48714	0.24931781	0.50499	-8.622	0.65235	D	.	.	0.147	0.32348	B	.;.;.	.;.;.	4.264848	0.64845	24.8	0.99885964636143798	0.96126	0.17360	0.19803	N	AEFDBCI	0.083809	0.16981	N	0.0870131344430237	0.45859	2.835372	-0.087622398960666	0.35900	2.082602	0.999996866609518	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	4.77	3.82	0.43153	1.651000	0.36918	7.594000	0.61341	0.596000	0.33519	0.065000	0.21925	1.000000	0.68203	0.018000	0.11154	0.0:0.7957:0.2043:0.0	10.096	0.41651	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	967.98	40	chr2	95275973	.	C	T	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.994e+00;DP=789;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.376;SOR=0.518	GT:AD:DP:GQ:PL	0/1:35,38:73:99:982,0,985	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	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	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,71:248:99:.:.:2023,0,4850	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:226,48:274:99:.:.:779,0,8467	6	0	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	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	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:149,181:330:99:4227,0,4032	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	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	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	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,120:276:99:0|1:95855576_A_G:4256,0,6034:95855576	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:235,25:260:87:87,0,8624	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	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	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	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,103:258:99:0|1:95855576_A_G:3809,0,6070:95855576	0	0	21	0
chr2	95855996	95855996	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5363G:p.E1788G,	.	.	423	1084	14	1	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	.	.	0.995	N	2.025	M	2.09	T	-0.997	T	0.058	T	0.124	-0.418	2.049	-2.64	-0.653	1.027	4.150	0.104	.	.	.	0.0017	0.0001	0.0002	0	0	0.0002	0.0012	0.0107	0.0001921	5	26028	rs2696787	0.0007	0.0007	0.0003	0.0011	0.0110	0.0007	0.0007	0.0104	0.0101	8.965e-05	2.251e-05	0	2.521e-05	0	0.0021	3.78e-05	0.0005	0.0110	0.0004	0.0004	0.0002	0.0006	0.0097	0.0003	0.0003	0.0075	0.0067	0.0002	0	0	0	0	0	0	7.35e-05	0.0005	0.0097	0.112	0.28900	T	0.408	0.14633	T	.	.	.	.	.	.	.	.	.	.	0.995364	0.23308	N	.	.	.	2.09	0.20122	T	-4.86	0.81187	D	0.181	0.19593	-0.9967	0.30838	T	0.058	0.24428	T	7	0.006890267	0.00156	T	.	.	.	0.104	0.29647	0.253	0.19223	0.151104730317	0.14643	0.021129201139812	0.02065	.	.	.	.	.	0.035255	0.23648	T	-0.295655	0.09077	T	-0.662465	0.08101	T	0.080917304577518	0.10104	T	0.457154	0.13128	T	0.08334489	0.19243	0.12760116	0.30714	0.08334489	0.19242	0.12760116	0.30713	-4.849	0.35157	T	.	.	0.048	0.00092	B	.	.	-0.441265	0.02063	0.189	0.69784133236065948	0.09083	0.42437	0.26877	N	AEFI	0.058147	0.10887	N	-1.0493760508998	0.07599	0.3535858	-1.22677742986635	0.05483	0.2613858	2.23717983239869E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	1.87	-2.64	0.05757	1.295000	0.32983	-0.329000	0.09904	-3.365000	0.00092	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1817:0.1381:0.0:0.6802	4.150	0.09698	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	2028.33	44	chr2	95855996	.	T	C	2028.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.768e+00;DP=868;ExcessHet=0.0000;FS=3.303;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=54.06;MQRankSum=-3.454e+00;QD=15.60;ReadPosRankSum=1.83;SOR=1.022	GT:AD:DP:GQ:PL	0/1:52,78:130:99:2042,0,1395	19	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,32:114:99:.:.:1063,0,3242	7	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,63:182:99:0|1:95859969_A_AT:2287,0,4760:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,63:183:99:0|1:95859969_A_AT:2284,0,4781:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,64:183:99:0|1:95859969_A_AT:2329,0,4757:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:127,62:189:99:2157,0,3277	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,57:183:99:0|1:95860002_T_A:2014,0,5038:95860002	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,57:183:99:0|1:95860002_T_A:2014,0,5038:95860002	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,52:168:99:0|1:95860020_G_A:1834,0,4708:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,49:165:99:0|1:95860020_G_A:1708,0,4717:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:93,36:129:99:1232,0,2668	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,41:125:99:0|1:95927222_G_GAT:1469,0,3404:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,59:152:99:0|1:95927222_G_GAT:2197,0,3727:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	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	.;.	.	.	.	.	.	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	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,74:174:99:0|1:95927222_G_GAT:2806,0,3976:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	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	.;.	.	.	.	.	.	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	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,117:233:99:0|1:95927222_G_GAT:4564,0,4519:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	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	.;.	.	.	.	.	.	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	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,153:277:99:0|1:95927222_G_GAT:5950,0,4746:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,157:289:99:0|1:95927222_G_GAT:6033,0,4980:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	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	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,56:160:99:0|1:95929092_T_C:1983,0,4190:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	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	.;.	.	.	.	.	.	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	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,67:190:99:0|1:95929092_T_C:2443,0,4955:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	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	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,83:225:99:0|1:95929092_T_C:3058,0,5713:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,82:227:99:0|1:95929092_T_C:3007,0,5842:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,87:235:99:0|1:95929092_T_C:3191,0,5946:95929092	1	0	20	0
chr2	96689738	96689738	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon26:c.G2620A:p.A874T,	.	.	385	1098	37	2	0	41	0.0183281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.033	B	0.012	B	.	.	.	.	1.2	L	.	.	-0.988	T	0.089	T	0.041	0.051	4.280	3.49	0.624	0.112	5.365	0.021	.	0.0007	0.00219649	0.0057	0.0005	0	0.0017	0	0.0024	0.0172	0.0112	0.0007956	123	154602	rs200820148	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0093	0.0002	0.0009	0.0092	0.0004	2.055e-05	0.0061	0.0002	0.0019	0.0102	0.0008	0.0008	0.0005	0.0010	0.0099	0.0006	0.0006	0.0077	0.0069	0.0003	0	0.0010	0.0049	0.0004	0	0.0034	0.0002	0.0019	0.0099	.	.	.	0.2	0.33894	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.10198	-0.9879	0.33126	T	0.089	0.34353	T	7	0.0031657815	0.00053	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.46933288399365947	0.46852	.	.	0.283456027508	0.07980	T	.	.	.	-0.517655	0.00454	T	-0.508391	0.21481	T	0.00570861671985965	0.00062	T	0.624238	0.24084	T	0.022747038	0.00960	0.11416561	0.27556	0.022747038	0.00960	0.11416561	0.27556	-4.91	0.35847	T	.	.	0.081	0.12655	B	.;.;.;.	.;.;.;.	1.528673	0.19615	14.35	0.7415529009742533	0.10590	0.16561	0.19446	N	AEFDBI	.	.	.	-0.952372442010241	0.09640	0.4570959	-0.939041153051163	0.11178	0.5678947	0.251354163830948	0.18683	0.055982	0.00716	0	0.063388	0.01293	0	0.072005	0.02045	0	0.062806	0.01542	0	0.295875	0.34619	5.28	3.49	0.39065	-0.153000	0.10130	1.816000	0.29002	-0.143000	0.12349	0.000000	0.06391	0.009000	0.19889	0.062000	0.16114	0.1711:0.0:0.6693:0.1596	5.365	0.15410	189	0.92630	Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin domain;Peroxin/Ferlin 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	0.02381	412.98	38	chr2	96689738	.	G	A	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=748;ExcessHet=0.0000;FS=1.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-1.593e+00;SOR=1.061	GT:AD:DP:GQ:PL	0/1:21,18:39:99:427,0,531	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,15:127:99:0|1:97185336_GC_G:293,0,4637:97185336	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	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	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,15:130:99:0|1:97185336_GC_G:284,0,4784:97185336	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,15:130:99:0|1:97185336_GC_G:284,0,4784:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,15:135:99:0|1:97185336_GC_G:269,0,4973:97185336	3	0	18	0
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M,	.	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.999	D	0.994	D	.	.	1.000	N	0.88	L	2.18	T	-1.030	T	0.064	T	0.062	0.982	9.008	-0.126	-0.032	0.035	5.417	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	198	0.92335	.;.	.	.	.	.	.	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	1	0	0	0	0.075	222.96	35	chr2	97243955	.	G	A	222.96	.	AC=3;AF=0.075;AN=40;BaseQRankSum=3.20;DP=1177;ExcessHet=0.3476;FS=41.095;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=39.34;MQRankSum=-3.236e+00;QD=0.54;ReadPosRankSum=-1.338e+00;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,10:117:98:0|1:97243955_G_A:98,0,4443:97243955	17	0	3	1
chr2	97243956	97243956	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.T4418C:p.V1473A,	.	.	590	847	83	2	0	87	0.048849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.99	D	0.971	D	.	.	1.000	N	1.005	L	2.13	T	-1.031	T	0.062	T	0.071	0.317	5.716	0.197	0.048	-0.313	4.056	0.038	0.000513303010245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934444205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.332	0.18449	T	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.13	0.19588	T	-1.43	0.35194	N	0.122	0.11340	-1.0309	0.20163	T	0.062	0.25744	T	9	0.12386596	0.23518	T	5.13E-4	0.00163	T	0.038	0.09825	.	.	0.128392430309	0.12331	.	.	.	.	0.778462767601	0.78697	T	0.00501	0.04439	T	-0.342858	0.05193	T	-0.730268	0.04316	T	0.0193876803876741	0.00643	T	0.321068	0.06505	T	0.028899712	0.02298	0.036257796	0.03036	0.028899712	0.02298	0.036257796	0.03036	.	.	.	.	.	0.206	0.43269	B	.;.	.;.	-0.260122	0.02797	0.383	0.6572940365307649	0.07855	0.01765	0.05546	N	AEFI	0.022039	0.01053	N	-0.814270253956863	0.12945	0.6343988	-0.97458338646845	0.10358	0.5211802	1.10007016109811E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.197	0.14443	-0.334000	0.07927	-2.096000	0.04219	-0.627000	0.04526	0.469000	0.26714	0.000000	0.08366	0.002000	0.04165	0.0:0.4538:0.0:0.5462	4.056	0.09296	198	0.92335	.;.	.	.	.	.	.	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	1	0	0	0	0.05	264.43	35	chr2	97243956	.	T	C	264.43	.	AC=2;AF=0.050;AN=40;BaseQRankSum=4.83;DP=1175;ExcessHet=0.1128;FS=41.232;InbreedingCoeff=-0.0650;MLEAC=2;MLEAF=0.050;MQ=39.27;MQRankSum=-3.225e+00;QD=0.90;ReadPosRankSum=-1.126e+00;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,10:117:98:0|1:97243955_G_A:98,0,4443:97243955	18	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-1.815	N	2.52	T	-0.941	T	0.006	T	0.101	-1.688	0.012	0.145	0.033	0.804	2.431	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	.;.	.	.	.	.	.	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	1	0	0	0	0.125	754.31	35	chr2	97243965	.	C	A	754.31	.	AC=5;AF=0.125;AN=40;BaseQRankSum=2.65;DP=1587;ExcessHet=1.2264;FS=21.000;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=39.13;MQRankSum=-3.457e+00;QD=1.01;ReadPosRankSum=-7.390e-01;SOR=2.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,12:113:99:0|1:97243955_G_A:197,0,4185:97243955	15	0	5	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	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	.;.	.	.	.	.	.	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	1	0	0	0	0.25	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,17:111:99:0|1:97243981_C_T:431,0,3869:97243981	10	0	10	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.566	P	0.11	B	.	.	1.000	N	-0.695	N	2.35	T	-1.001	T	0.013	T	0.162	0.638	7.428	-0.226	0.036	-0.164	4.757	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	3278.89	148	chr2	97243989	.	C	T	3278.89	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.381;DP=2004;ExcessHet=6.5132;FS=9.348;InbreedingCoeff=-0.3333;MLEAC=10;MLEAF=0.250;MQ=38.06;MQRankSum=-3.253e+00;QD=2.26;ReadPosRankSum=0.655;SOR=1.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,17:106:99:0|1:97243981_C_T:446,0,3686:97243981	10	0	10	1
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	.;.;.	.	.	.	.	.	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	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,100:172:99:0|1:97513219_T_C:3982,0,2722:97513219	0	0	20	1
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	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	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,103:175:99:0|1:97513219_T_C:4088,0,2713:97513219	0	0	20	1
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	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	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,123:196:99:0|1:97513244_G_T:4945,0,2630:97513244	0	0	20	1
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	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	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,131:204:99:0|1:97513244_G_T:5261,0,2667:97513244	0	0	20	1
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	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	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,131:204:99:0|1:97513244_G_T:5261,0,2667:97513244	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,141:212:99:0|1:97513268_C_T:5625,0,2511:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,123:213:99:.:.:2703,0,3031	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,142:213:99:0|1:97513268_C_T:5648,0,2493:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,142:212:99:0|1:97513268_C_T:5632,0,2456:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1307,0,1482	0	0	20	1
chr2	98312294	98312294	C	T	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon22:c.C2801T:p.T934I	.	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.261	B	0.094	B	.	.	1.000	N	0.55	N	3.33	T	-0.944	T	0.002	T	0.159	1.030	9.208	1.25	0.262	0.195	9.877	0.067	.	0.0048	0.0129792	0.0115	0.0006	0.0036	0.0503	0.0153	0.0094	0.0078	0.0106	0.0111836	1729	154602	rs2271038	0.0098	0.0098	0.0096	0.0100	0.0573	0.0097	0.0096	0.0554	0.0546	0.0008	0.0048	0.0036	0.0573	0.0130	0.0121	0.0084	0.0087	0.0125	0.0075	0.0075	0.0067	0.0083	0.0493	0.0071	0.0070	0.0444	0.0424	0.0010	0	0.0057	0.0049	0.0493	0.0118	0.0034	0.0080	0.0066	0.0112	0.072	0.34982	T	0.533	0.11371	T	0.261	0.31520	B	0.094	0.30180	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	3.33	0.06138	T	-0.53	0.16393	N	0.096	0.07673	-0.9435	0.42057	T	0.002	0.00556	T	9	0.0029001534	0.00046	T	.	.	.	0.067	0.19503	.	.	.	.	0.13017953049751194	0.12942	0.0882361222215	0.09970	0.298939734697	0.10243	T	0.001721	0.01148	T	-0.652809	0.00070	T	-0.667996	0.07738	T	0.0027483472469388	0.00029	T	0.49475	0.15329	T	0.028671041	0.02240	0.04810641	0.07073	0.034224115	0.03797	0.04810641	0.07073	-4.321	0.29435	T	.	.	0.101	0.23605	B	.;.	.;.	0.346239	0.07195	3.786	0.94490893941064569	0.24956	0.06785	0.12808	N	AEFDGBCI	0.045352	0.07407	N	-0.997441856833061	0.08659	0.4068055	-1.04821465623484	0.08744	0.4314253	0.013013184112008	0.12404	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	4.28	1.25	0.20475	0.293000	0.18785	-0.402000	0.09404	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5643:0.4357:0.0:0.0	9.877	0.40380	434	0.80536	.;.	.	.	.	.	.	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	0.04762	3416.11	36	chr2	98312294	.	C	T	3416.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.255;DP=994;ExcessHet=0.1072;FS=4.228;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.60;SOR=0.952	GT:AD:DP:GQ:PL	0/1:68,47:115:99:1199,0,1783	19	0	2	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,12,0:12:36:296,36,0,296,36,296	3	9	6	2
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:88,0,82:170:99:.:.:3185,3450,7132,0,3683,3430	3	5	3	0
chr2	113184994	113184994	G	A	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon3:c.G1094A:p.C365Y,	.	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.218	B	0.08	B	0.105	N	1.000	N	0.805	L	2.94	T	-1.007	T	0.018	T	0.293	1.125	9.587	-1.49	-0.095	-0.613	2.346	0.036	0.00376722550295	0.0009	0.00119808	0.0007	0.0030	0.0003	0	0	0.0003	0	0.0020	0.0006468	100	154602	rs45626940	0.0004	0.0004	0.0003	0.0005	0.0052	0.0004	0.0004	0.0037	0.0033	0.0027	0.0002	0	0.0001	9.36e-05	0.0052	0.0002	0.0008	0.0022	0.0008	0.0008	0.0008	0.0009	0.0023	0.0007	0.0007	0.0019	0.0018	0.0023	0	0.0005	0	0	0	0	0.0002	0	0.0014	0.008	0.58626	D	0.181	0.29346	T	0.139	0.30213	B	0.037	0.28873	B	0.105345	0.02587	N	1.741990	1	0.08975	N	1.15	0.29295	L	2.94	0.09728	T	-0.81	0.28906	N	0.268	0.39962	-1.0069	0.27881	T	0.018	0.07706	T	10	0.0063016415	0.00142	T	0.003767	0.08775	T	0.036	0.09122	.	.	0.0675242888579	0.06100	0.1557347421138312	0.15494	0.182166291854	0.20479	0.403516948223	0.25557	T	0.015507	0.12992	T	-0.569018	0.00224	T	-0.594123	0.13311	T	0.00368205978972027	0.00039	T	0.39686	0.10010	T	0.13225634	0.30801	0.08421991	0.19358	0.13225634	0.30801	0.08421991	0.19358	-5.609	0.42874	T	.	.	0.088	0.22171	B	.;.	.;.	0.674532	0.10428	7.151	0.74280089209675548	0.10637	0.07548	0.13561	N	AEFDBHCI	0.047426	0.07985	N	-1.01706949738135	0.08249	0.3861312	-1.09230761448134	0.07851	0.3835654	0.9999990709045	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.38	-1.49	0.08259	-0.448000	0.06893	0.316000	0.17134	-0.166000	0.11466	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0957:0.2987:0.3013:0.3044	2.346	0.04010	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1024.98	40	chr2	113184994	.	G	A	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.548e+00;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-1.294e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/1:62,47:109:99:1039,0,1575	20	0	1	0
chr2	120174843	120174843	C	G	exonic	EPB41L5	.	nonsynonymous SNV	EPB41L5:NM_001330310:exon25:c.C2135G:p.S712C	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.973	D	0.614	P	0.038	N	1.000	N	.	.	-1.63	D	0.119	D	0.519	D	0.509	2.167	13.20	5.03	2.771	3.502	14.064	0.329	0.347399111305	.	.	2.473e-05	0	0	0	0	4.499e-05	0	0	1.94e-05	3	154602	rs759329364	3.352e-05	3.352e-05	2.722e-05	3.988e-05	0.0014	2.566e-05	2.312e-05	0.0007	0.0005	0	0	0	0	0	0.0014	2.878e-05	6.623e-05	5.797e-05	3.286e-05	3.283e-05	3.855e-05	2.69e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.012	0.54683	D	0.029	0.56192	D	0.953	0.57599	P	0.41	0.51198	B	0.038317	0.24300	N	0.305862	1	0.81001	D	.	.	.	-1.63	0.82533	D	-1.27	0.32185	N	0.388	0.42931	0.119	0.84510	D	0.519	0.82019	D	9	0.4054228	0.55859	T	0.347399	0.92178	D	0.329	0.65126	0.316	0.29258	0.84849653362	0.84704	0.22666231740675558	0.22581	0.280962310309	0.30564	0.44801941514	0.31673	T	0.081652	0.36648	T	0.0263496	0.55234	T	-0.103073	0.63158	T	0.801031649112701	0.46424	D	0.737626	0.35462	T	0.118616514	0.27944	0.06855348	0.14330	0.118616514	0.27944	0.06855348	0.14330	-5.379	0.40717	T	.	.	0.087	0.22135	B	.;.	.;.	3.271946	0.44790	22.0	0.94751504915919438	0.25453	0.82696	0.41889	D	AEFBCIJ	0.236853	0.35923	N	0.742864308404284	0.82440	7.762868	0.598887404268238	0.74859	6.209476	0.999999994492818	0.74766	0.743674	0.98306	0	0.61073	0.52368	0	0.630245	0.45026	0	0.629945	0.49285	0	.	.	5.03	5.03	0.67015	3.461000	0.52800	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.681000	0.33571	0.0:1.0:0.0:0.0	14.064	0.64342	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	33	chr2	120174843	.	C	G	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=797;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.869;SOR=0.578	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1593,0,1095	20	0	1	0
chr2	127419902	127419902	A	T	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375602:exon2:c.A143T:p.E48V	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	.	2	1490	29	1	0	31	0.0102956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00219649	0.0021	9.745e-05	0.0003	0.0001	0	0.0004	0.0011	0.0136	0.0017852	276	154602	rs202233007	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0132	0.0129	0.0002	0.0001	3.826e-05	5.038e-05	9.408e-05	0.0061	0.0002	0.0014	0.0138	0.0007	0.0007	0.0005	0.0010	0.0143	0.0006	0.0006	0.0116	0.0106	0	0	0.0003	0	0.0004	0	0.0068	0.0004	0.0014	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	658.98	28	chr2	127419902	.	A	T	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.278e+00;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.07;ReadPosRankSum=-1.240e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/1:14,27:41:99:673,0,322	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,189,0:189:99:.:.:5577,566,0,5577,566,5577	4	10	6	0
chr2	138013810	138013810	G	A	exonic	HNMT	.	nonsynonymous SNV	HNMT:NM_006895:exon6:c.G559A:p.G187R,	Mental retardation, autosomal recessive 51, Autosomal recessive	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.081	B	0.031	B	0.000	N	1.000	D	1.145	L	2.61	T	-1.092	T	0.029	T	0.265	-0.792	0.698	4.15	0.830	2.167	16.719	0.055	0.00482948824751	7.7e-05	0.000199681	0.0001	9.718e-05	0	0	0	7.589e-05	0	0.0004	9.06e-05	14	154602	rs199520450	4.654e-05	4.652e-05	3.133e-05	6.192e-05	0.0014	3.73e-05	3.413e-05	0.0007	0.0005	2.99e-05	2.242e-05	0	0	1.875e-05	0.0014	8.996e-06	6.629e-05	0.0005	3.941e-05	3.938e-05	1.285e-05	6.718e-05	0.0004	1.715e-05	1.129e-05	7.293e-05	3.03e-05	4.813e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	1.0	0.00964	T	0.915	0.02917	T	0.081	0.24602	B	0.031	0.21939	B	0.000050	0.53742	N	0.194048	0.99848	0.44980	D	1.28	0.32218	L	2.61	0.13095	T	-1.35	0.33598	N	0.117	0.10626	-1.0924	0.05144	T	0.029	0.12453	T	10	0.03393501	0.01584	T	0.004829	0.12098	T	0.055	0.15663	0.36	0.36385	0.284150004643	0.28039	0.5777252884088404	0.57701	0.0789299545713	0.08879	0.320475161076	0.13493	T	0.056716	0.30365	T	-0.452543	0.01091	T	-0.557822	0.16581	T	0.0142485460653525	0.00282	T	0.762724	0.38847	T	0.43901357	0.63339	0.23710495	0.48999	0.43901357	0.63339	0.23710495	0.48998	-3.32	0.13997	T	0.1722879152880734	0.21766	0.097	0.15877	B	.;.	.;.	0.695303	0.10640	7.340	0.070746166561508519	0.00035	0.84878	0.43971	D	AEFDBIJ	0.698435	0.65611	D	-0.496305921286047	0.22201	1.183801	-0.385817188083915	0.25419	1.397763	0.999977661429066	0.50053	0.675385	0.55134	0	0.573888	0.26702	0	0.653264	0.51672	0	0.525792	0.08840	0	.	.	5.98	4.15	0.47978	2.221000	0.42559	1.290000	0.25406	-0.165000	0.11486	0.956000	0.33378	0.026000	0.21063	0.036000	0.13842	0.0:0.2442:0.7558:0.0	16.719	0.85263	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1260.98	33	chr2	138013810	.	G	A	1260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=778;ExcessHet=0.0000;FS=3.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=1.47;SOR=0.417	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1275,0,1090	20	0	1	0
chr2	144389786	144389786	T	C	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon9:c.A3238G:p.T1080A	Mowat-Wilson syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.138	B	0.027	B	0.001	N	0.987	D	1.61	L	2.61	T	-1.009	T	0.025	T	0.064	1.984	12.59	0.468	-0.078	2.879	9.271	0.047	0.00415325106095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	6.84e-07	0	1.38e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.25560	T	0.41	0.14544	T	0.0	0.02946	B	0.001	0.04355	B	0.000812	0.41658	N	0.291396	0.948621	0.40468	D	0.625	0.15840	N	2.6	0.13204	T	-1.12	0.28906	N	0.076	0.14480	-1.0088	0.27292	T	0.025	0.10910	T	10	0.09995562	0.18172	T	0.004153	0.09963	T	0.047	0.12962	0.272	0.22210	0.223474106383	0.21959	0.6696872925824003	0.66906	1.30625617506	0.83127	0.489008456469	0.37300	T	0.024128	0.70531	T	-0.323838	0.06589	T	-0.702948	0.05667	T	0.0774680803348978	0.09660	T	0.760524	0.38496	T	0.032101892	0.03173	0.04237015	0.05031	0.032101892	0.03173	0.04237015	0.05030	-3.008	0.10267	T	0.27334676399570457	0.36736	0.083	0.08997	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.747382	0.22230	15.54	0.93842632809085258	0.23836	0.91507	0.53676	D	AEFDBHCIJ	0.332144	0.43165	N	-0.554701027854614	0.20337	1.071319	-0.429304788515375	0.24142	1.320357	0.999983013626021	0.51787	0.706548	0.73137	0	0.670034	0.63936	0	0.666236	0.60216	0	0.714379	0.83352	0	.	.	5.51	0.468	0.15943	2.348000	0.43701	-0.263000	0.10410	-0.186000	0.09761	1.000000	0.71638	0.434000	0.24870	0.984000	0.60418	0.0:0.2771:0.0:0.7229	9.271	0.36833	839	0.37672	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1105.98	33	chr2	144389786	.	T	C	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.525;DP=811;ExcessHet=0.0000;FS=0.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-1.620e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1120,0,1385	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:4,9,0,0:13:50:197,0,50,209,77,285,209,77,285,285	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:4,9,0,0:13:50:197,0,50,209,77,285,209,77,285,285	1	6	10	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	.	6	1446	65	5	0	75	0.0252781	.	.	250305	not_specified|not_provided|Progressive_myositis_ossificans	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.016	B	0.007	B	0.219	N	0.908	D	0.55	N	-0.81	T	-0.083	T	0.528	D	0.325	2.808	15.35	5.84	2.760	3.258	17.649	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.09524	2734.92	86	chr2	157799450	.	G	C	2734.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.470e-01;DP=959;ExcessHet=0.6776;FS=0.423;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.267;SOR=0.647	GT:AD:DP:GQ:PL	0/1:48,17:65:99:342,0,1303	17	0	4	0
chr2	160137782	160137782	C	T	exonic	ITGB6	.	nonsynonymous SNV	ITGB6:NM_001282354:exon8:c.G1027A:p.V343M	Amelogenesis imperfecta, type IH, Autosomal recessive	.	427	1025	62	8	0	78	0.0366541	.	.	707793	Amelogenesis_imperfecta_type_1H|not_provided	MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.035	M	-0.45	T	0.169	D	0.481	T	0.699	4.196	21.8	5.2	2.588	3.120	19.113	0.509	.	0.0043	0.00658946	0.0089	0.0014	0.0035	0.0001	0.0012	0.0079	0.0166	0.0287	0.0082793	1280	154602	rs61737764	0.0059	0.0059	0.0051	0.0068	0.0286	0.0058	0.0058	0.0276	0.0273	0.0011	0.0030	0.0084	0.0001	0.0015	0.0277	0.0046	0.0070	0.0286	0.0043	0.0043	0.0039	0.0047	0.0249	0.0040	0.0039	0.0213	0.0199	0.0008	0.0033	0.0032	0.0066	0.0006	0.0012	0.0238	0.0057	0.0071	0.0249	0.003	0.68238	D	0.011	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.345	0.91022	M	-0.45	0.69896	T	-1.8	0.45042	N	0.297	0.34228	0.169	0.85386	D	0.481	0.80170	T	10	0.012100965	0.00261	T	.	.	.	0.509	0.78910	.	.	0.697297187285	0.69468	0.6160951086029223	0.61541	0.0810200920857	0.09117	0.485046923161	0.36752	T	0.771974	0.93904	D	-0.196078	0.21371	T	-0.0327995	0.68183	D	0.0909153406964552	0.11326	T	0.910609	0.69499	D	0.5046076	0.67364	0.3403883	0.59791	0.44955823	0.64013	0.3403883	0.59791	-6.427	0.49884	T	0.7321340703552297	0.81385	0.195	0.41541	B	.;.;.;.;.	.;.;.;.;.	4.120538	0.61586	24.4	0.99910961825783051	0.98022	0.97108	0.72736	D	AEFBI	0.604412	0.59552	D	0.80083389169006	0.86157	8.796558	0.733918385953222	0.84951	8.437762	0.999999989802394	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	3.374000	0.52132	4.071000	0.41665	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	19.113	0.93310	419	0.81524	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;.;Integrin beta subunit, VWA domain	.	.	.	.	.	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	0.07143	3173.68	35	chr2	160137782	.	C	T	3173.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.619e+00;DP=885;ExcessHet=0.3300;FS=8.078;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.212;SOR=0.382	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1049,0,1344	18	0	3	0
chr2	162047005	162047005	A	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379604:exon4:c.T192A:p.D64E	.	.	508	1006	8	0	0	8	0.0039604	0.0002	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.000	D	0.657	D	1.68	L	-4.55	D	0.279	D	0.810	D	0.36	2.054	12.82	0.676	0.097	0.796	3.651	0.395	0.0779797569933	.	0.000399361	0.0005	0	0	0	0	3.224e-05	0	0.0036	0.0003816	59	154602	rs200443496	0.0003	0.0003	0.0001	0.0004	0.0038	0.0003	0.0002	0.0035	0.0034	3.234e-05	0.0007	0	0	0	0.0017	2.205e-05	0.0003	0.0038	0.0005	0.0005	0.0002	0.0008	0.0036	0.0004	0.0004	0.0028	0.0026	0	0	0.0036	0	0	0	0	5.879e-05	0.0005	0.0033	0.428	0.09600	T	0.345	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.62929	D	0.108531	0.656902	0.33015	D	2.125	0.59049	M	-4.55	0.97753	D	-2.27	0.50666	N	0.39	0.44090	0.279	0.87222	D	0.810	0.93586	D	10	0.014040172	0.00296	T	0.07798	0.72898	D	0.395	0.71004	0.468	0.54052	0.903976142794	0.90302	0.7722326810168741	0.77173	0.128479209888	0.14485	0.516181826591	0.41089	T	0.745203	0.92975	D	-0.208964	0.19524	T	-0.0750442	0.65264	T	0.0267940643931501	0.01515	T	0.686731	0.31637	T	0.33033878	0.55499	0.12150165	0.29316	0.33033878	0.55499	0.12150165	0.29316	-4.887	0.35589	T	.	.	0.382	0.60275	A	.;.	.;.	1.893076	0.24047	16.25	0.98428285072011756	0.41364	0.36582	0.25566	N	AEFBI	0.090964	0.18430	N	-0.360333057197436	0.26896	1.471381	-0.241347461093422	0.30071	1.689988	0.742560789817965	0.23235	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	6.04	0.676	0.17125	0.938000	0.28562	5.314000	0.48272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5675:0.0:0.2771:0.1554	3.651	0.07740	490	0.76723	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.98	37	chr2	162047005	.	A	T	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=1.01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:32,27:59:99:816,0,831	20	0	1	0
chr2	169201852	169201852	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon44:c.C8228T:p.P2743L,	Donnai-Barrow syndrome, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	881474	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.006	B	0.019	N	0.999	D	1.76	L	-3.85	D	0.113	D	0.750	D	0.065	2.046	12.80	1.95	0.083	2.851	8.217	0.323	.	.	0.00339457	0.0014	9.615e-05	8.643e-05	0.0001	0	2.999e-05	0	0.0099	0.0012225	189	154602	rs545645633	0.0006	0.0006	0.0004	0.0009	0.0100	0.0006	0.0006	0.0095	0.0092	5.974e-05	2.236e-05	0	7.557e-05	0	0.0003	2.248e-05	0.0005	0.0100	0.0005	0.0005	0.0003	0.0006	0.0131	0.0004	0.0003	0.0105	0.0095	0.0001	0	6.539e-05	0	0	0	0	0	0	0.0131	0.083	0.33091	T	0.064	0.44905	T	0.003	0.11197	B	0.006	0.12133	B	0.018882	0.27379	N	0.449536	0.858408	0.35344	D	2.26	0.64354	M	-3.85	0.95859	D	-5.98	0.89334	D	0.159	0.16586	0.113	0.84415	D	0.750	0.91486	D	10	0.010917753	0.00241	T	.	.	.	0.323	0.64522	.	.	0.574083903255	0.57075	0.4756915352177819	0.47488	0.250877097189	0.27665	0.289194911718	0.08805	T	0.47695	0.80739	T	-0.350169	0.04716	T	-0.267951	0.48026	T	0.0653901046279142	0.07989	T	0.572443	0.20452	T	0.08380171	0.19368	0.13184972	0.31652	0.084529296	0.19568	0.10511958	0.25261	-6.49	0.50209	T	0.17461396263331308	0.22185	0.120	0.24633	B	.;.	.;.	2.111327	0.26872	17.27	0.95173532346114809	0.26333	0.87162	0.46619	D	AEFBI	0.250857	0.37083	N	-0.538063326759282	0.20859	1.102802	-0.475515461331866	0.22830	1.241994	0.807528867865928	0.24296	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.7	1.95	0.25130	2.937000	0.48672	3.282000	0.37238	-0.119000	0.14319	0.998000	0.41325	0.444000	0.24919	0.849000	0.40138	0.1891:0.1129:0.6981:0.0	8.217	0.30676	898	0.25240	EGF-like domain;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.04762	2424.11	33	chr2	169201852	.	G	A	2424.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.46;DP=819;ExcessHet=0.1072;FS=1.326;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=2.24;SOR=0.844	GT:AD:DP:GQ:PL	0/1:38,31:69:99:948,0,1055	19	0	2	0
chr2	174337447	174337473	GGCGGCGGCAGCGGCGGCGGCGGCAGC	-	exonic	SP9	.	nonframeshift deletion	SP9:NM_001145250:exon2:c.1362_1388del:p.A462_A470del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269584019	6.185e-05	5.404e-05	5.652e-05	6.755e-05	0.0004	5.013e-05	4.607e-05	7.959e-05	3.24e-05	0	0.0002	0	0	0.0009	0.0004	2.494e-05	0.0002	0	1.331e-05	1.315e-05	2.6e-05	0	.	2.21e-06	8.3e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1917.05	36	chr2	174337446	.	GGGCGGCGGCAGCGGCGGCGGCGGCAGC	G,GGGCGGCGGCAGC	1917.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=17.92;ReadPosRankSum=-6.980e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:33,21,0:54:99:760,0,1292,859,1359,2218	19	0	1	0
chr2	174337459	174337473	GGCGGCGGCGGCAGC	-	exonic	SP9	.	nonframeshift deletion	SP9:NM_001145250:exon2:c.1374_1388del:p.A466_A470del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1917.05	36	chr2	174337446	.	GGGCGGCGGCAGCGGCGGCGGCGGCAGC	G,GGGCGGCGGCAGC	1917.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.47;DP=844;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=17.92;ReadPosRankSum=-6.980e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:33,21,0:54:99:760,0,1292,859,1359,2218	19	0	1	0
chr2	174337471	174337471	A	0	exonic	SP9	.	.	.	.	.	0	207	18	0	1	19	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	299.08	36	chr2	174337471	.	A	G,*	299.08	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.930e-01;DP=814;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=4.04;ReadPosRankSum=1.63;SOR=0.895	GT:AD:DP:GQ:PL	0/2:33,0,21:54:99:760,859,2218,0,1359,1292	19	0	1	0
chr2	178072267	178072267	A	-	exonic	PDE11A	.	frameshift deletion	PDE11A:NM_016953:exon1:c.171delT:p.T58Pfs*41,	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	.	0	1435	82	5	0	92	0.0310601	.	.	205134	Pigmented_nodular_adrenocortical_disease,_primary,_2|not_specified|PDE11A-related_disorder|Bardet-Biedl_syndrome_16|not_provided	MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439|MedGen:CN169374|.|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00938498	0.0065	0.0003	0.0005	0.0002	0.0002	0.0014	0.0070	0.0396	0.0004226	11	26028	rs529789124	0.0031	0.0031	0.0019	0.0044	0.0394	0.0031	0.0030	0.0383	0.0378	0.0002	0.0004	0.0093	5.039e-05	1.873e-05	0.0196	0.0005	0.0041	0.0394	0.0018	0.0018	0.0012	0.0025	0.0410	0.0017	0.0016	0.0363	0.0345	0.0001	0	0.0009	0.0069	0.0002	0	0.0034	0.0005	0.0024	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3666.07	35	chr2	178072266	.	TA	T	3666.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.58;DP=991;ExcessHet=0.1072;FS=3.898;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.46;ReadPosRankSum=0.744;SOR=0.482	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1516,0,1241	19	0	2	0
chr2	178550195	178550195	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.C64448T:p.A21483V	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	1520	1	0	0	1	0.000328839	.	.	173081	not_specified|TTN-related_disorder|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|not_provided	MedGen:CN169374|.|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.883	P	.	.	1.000	D	-1	N	1.1	T	-0.650	T	0.095	T	0.537	4.805	27.2	5.74	2.873	2.894	20.298	0.264	0.0446654861033	.	0.00179712	0.0010	0	0.0002	0	0	0	0	0.0068	0.0008215	127	154602	rs553668520	0.0004	0.0004	0.0002	0.0006	0.0064	0.0004	0.0004	0.0060	0.0058	2.988e-05	4.472e-05	0	2.52e-05	0	0.0002	4.498e-06	0.0007	0.0064	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.424	0.09717	T	.	.	.	0.996	0.68779	D	0.883	0.62698	P	.	.	.	.	0.999991	0.58761	D	0	0.06538	N	1.1	0.39050	T	-1.97	0.45587	N	0.289	0.40963	-0.6497	0.62727	T	0.095	0.35818	T	9	0.008009225	0.00182	T	0.044665	0.61602	D	0.264	0.57741	0.685	0.82271	0.231873229951	0.22792	.	.	0.363313273458	0.37963	0.452166140079	0.32240	T	.	.	.	-0.418	0.01762	T	-0.369479	0.36950	T	0.0877061489228231	0.10943	T	0.837516	0.53799	T	.	.	.	.	.	.	.	.	-4.113	0.25481	T	.	.	0.181	0.39408	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.835599	0.37399	20.5	0.98577189540391419	0.43193	0.96600	0.69954	D	AEFBI	0.610289	0.59917	D	0.334316865360715	0.57917	3.961182	0.456813304475557	0.65158	4.788312	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	2.807000	0.47652	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.298	0.98571	531	0.73574	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1535.98	42	chr2	178550195	.	G	A	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=1087;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-9.260e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/1:75,64:139:99:1550,0,1835	20	0	1	0
chr2	189689584	189689584	A	G	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon3:c.A659G:p.N220S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.976	D	0.696	P	0.017	N	1.000	D	1.445	L	0.98	T	-0.892	T	0.158	T	0.108	4.087	21.0	5.97	2.288	6.389	15.443	0.091	0.00727903971566	.	.	8.294e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs112377488	2.055e-06	2.052e-06	2.726e-06	1.377e-06	0.0003	5.5e-07	1.5e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.086	0.40909	T	0.976	0.58310	D	0.696	0.54017	P	0.017069	0.27816	N	0.306952	0.850962	0.81001	D	2.34	0.67151	M	0.98	0.42122	T	-1.04	0.27259	N	0.268	0.35832	-0.8919	0.48767	T	0.158	0.49161	T	10	0.32165623	0.49525	T	0.007279	0.19307	T	0.091	0.26358	0.18	0.08751	0.775158040763	0.77309	0.1706948227768393	0.16989	0.385166138058	0.39810	0.522253513336	0.41943	T	0.005499	0.04952	T	-0.201412	0.20602	T	-0.527091	0.19578	T	0.758101761341095	0.43743	D	0.792821	0.43457	T	0.105749264	0.25004	0.106745325	0.25686	0.105749264	0.25004	0.106745325	0.25685	-3.203	0.12517	T	.	.	0.116	0.23290	B	.;.	.;.	3.485834	0.48698	22.7	0.9983598733689536	0.91714	0.97211	0.73346	D	AEFBI	0.668881	0.63651	D	0.602524574240706	0.73333	5.949188	0.650561009726795	0.78652	6.919529	0.999992404130528	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.97	5.97	0.96935	6.374000	0.73065	11.090000	0.85912	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.443	0.74935	777	0.48198	.;.	.	.	.	.	.	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	0.02381	1391.98	34	chr2	189689584	.	A	G	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=787;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.660;SOR=0.865	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1406,0,1329	20	0	1	0
chr2	196318969	196318969	C	T	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon7:c.G853A:p.A285T	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2333443	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.688	P	0.064	B	0.001	N	1.000	N	0.55	N	1.4	T	-1.037	T	0.046	T	0.498	2.026	12.73	5.19	2.704	2.838	13.818	0.106	0.00465998112522	.	.	8.5e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs767070217	1.096e-05	1.094e-05	5.45e-06	1.652e-05	5.038e-05	6.49e-06	5.25e-06	1.586e-05	9.32e-06	0	0	0	5.038e-05	0	0	7.199e-06	3.315e-05	4.653e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	4.826e-05	0	0.0001	0	0	0	0	0	0	0	0.013	0.53900	D	0.492	0.11479	T	0.688	0.41582	P	0.064	0.27215	B	0.001080	0.40389	N	0.216428	0.999992	0.08975	N	0	0.06538	N	1.4	0.33630	T	-0.51	0.15986	N	0.598	0.61680	-1.0368	0.18295	T	0.046	0.19559	T	10	0.12587881	0.23925	T	0.00466	0.11566	T	0.106	0.30130	0.145	0.04843	0.45509904304	0.45135	0.23648942399701356	0.23563	0.355098685327	0.37273	0.684469938278	0.64910	T	0.014372	0.12250	T	-0.22467	0.17361	T	-0.378352	0.35915	T	0.147259394164917	0.16884	T	0.904909	0.66542	D	0.064629994	0.13731	0.07937958	0.17865	0.064629994	0.13730	0.07937958	0.17865	-3.612	0.18031	T	0.18491605694302202	0.24004	0.132	0.28550	B	.;.;.;.	.;.;.;.	3.638743	0.51583	23.1	0.99664489907650722	0.78138	0.90266	0.51306	D	AEFBI	0.277112	0.39170	N	-0.105010920096209	0.37175	2.158989	-0.0101932515370304	0.39252	2.324632	0.999725100808596	0.42220	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	3.063000	0.49672	3.842000	0.40046	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.354000	0.25750	0.1529:0.8471:0.0:0.0	13.818	0.62793	805	0.43675	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0.02381	1096.98	48	chr2	196318969	.	C	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.374;SOR=0.642	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1111,0,1631	20	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:51,25:76:99:124,0,868	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:21,0,8,0:29:98:98,160,594,0,434,410,160,594,434,594	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:21,0,8,0:29:98:98,160,594,0,434,410,160,594,434,594	2	0	4	0
chr2	203107870	203107870	A	G	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon13:c.A1544G:p.H515R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.136	B	0.05	B	.	.	0.986	N	0.69	N	-0.28	T	-0.895	T	0.170	T	0.448	2.326	13.74	3.12	0.995	2.723	10.254	0.239	0.0270874010741	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370700925	1.427e-06	1.368e-06	1.408e-06	1.446e-06	1.258e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.262e-07	0	1.258e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.004	0.74150	D	0.136	0.27347	B	0.05	0.25278	B	.	.	.	.	0.985883	0.24669	N	1.39	0.34934	L	-0.28	0.67543	T	-0.82	0.22508	N	0.505	0.53708	-0.8949	0.48493	T	0.170	0.51133	T	9	0.2899226	0.46573	T	0.027087	0.49938	D	0.239	0.54358	0.651	0.78858	0.468834750356	0.46508	0.6438290355816815	0.64317	0.143978961138	0.16260	0.451501131058	0.32149	T	0.001126	0.00635	T	-0.0204615	0.48789	T	-0.267168	0.48107	T	0.495499805880759	0.32465	T	0.859714	0.55187	D	0.15306692	0.34715	0.2220231	0.47032	0.15306692	0.34715	0.2220231	0.47031	-5.286	0.39804	T	.	.	0.388	0.58901	A	.	.	2.711480	0.35441	19.90	0.97749724376869052	0.35739	0.90326	0.51413	D	AEFGBI	0.248835	0.36917	N	-0.190737563891767	0.33518	1.902564	-0.0268865153707003	0.38506	2.269504	0.162643148249349	0.17617	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.84	3.12	0.34986	2.704000	0.46787	5.611000	0.49055	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.5415:0.0:0.0:0.4585	10.254	0.42566	346	0.85643	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1499.98	35	chr2	203107870	.	A	G	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.578e+00;DP=809;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.45;SOR=0.674	GT:AD:DP:GQ:PL	0/1:70,59:129:99:1514,0,2084	20	0	1	0
chr2	218549837	218549837	C	G	exonic	USP37	.	nonsynonymous SNV	USP37:NM_020935:exon6:c.G401C:p.S134T,	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.066	B	0.023	B	0.001	N	1.000	N	0	N	1.02	T	-1.051	T	0.035	T	0.058	1.952	12.48	1.38	0.090	1.746	7.182	0.033	.	0.0035	0.00379393	0.0044	0.0010	0.0016	0	0.0011	0.0048	0.0089	0.0100	0.0042108	651	154602	rs150600881	0.0054	0.0054	0.0052	0.0056	0.0093	0.0053	0.0053	0.0087	0.0085	0.0007	0.0016	0.0077	2.53e-05	0.0021	0.0073	0.0057	0.0053	0.0093	0.0036	0.0036	0.0036	0.0035	0.0101	0.0033	0.0032	0.0079	0.0071	0.0012	0	0.0024	0.0078	0	0.0015	0.0068	0.0052	0.0052	0.0101	0.04	0.50132	D	0.065	0.44702	T	0.001	0.23586	B	0.002	0.19966	B	0.001025	0.40562	N	0.297575	0.999926	0.20745	N	0.805	0.20218	L	1.02	0.45248	T	-1.19	0.30964	N	0.222	0.30800	-1.0513	0.14036	T	0.035	0.14900	T	10	0.00652802	0.00148	T	.	.	.	0.033	0.08068	.	.	0.147330786459	0.14319	0.11837703786866471	0.11764	0.282033691063	0.30668	0.317671149969	0.13068	T	0.005983	0.20579	T	-0.619586	0.00111	T	-0.656372	0.08513	T	0.00736813601991821	0.00085	T	0.751925	0.39491	T	0.06635947	0.14269	0.07824549	0.17507	0.06635947	0.14268	0.07824549	0.17506	-4.483	0.30692	T	.	.	0.069	0.05103	B	.;.;.;.;.	.;.;.;.;.	1.999324	0.25404	16.75	0.95936598180550903	0.28230	0.71424	0.35007	D	AEFBI	0.154394	0.27942	N	-0.685966644365268	0.16421	0.8364712	-0.518261766284931	0.21658	1.172629	0.101133132954182	0.16370	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.03	1.38	0.21262	1.809000	0.38560	0.654000	0.20444	-0.341000	0.05685	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.2804:0.0:0.7196	7.182	0.24955	827	0.39843	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	576.98	34	chr2	218549837	.	C	G	576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.141e+00;DP=763;ExcessHet=0.0000;FS=0.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.88;ReadPosRankSum=0.205;SOR=0.852	GT:AD:DP:GQ:PL	0/1:37,28:65:99:591,0,947	20	0	1	0
chr2	219004186	219004188	TCT	-	exonic	CFAP65	.	nonframeshift deletion	CFAP65:NM_194302:exon33:c.5319_5321del:p.E1774del,	.	.	370	1149	3	0	0	3	0.00130378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0002	0.0002	0.0008	0.0002	0	9.016e-05	0.0011	0.0002	0.0001552	24	154602	rs781553221	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	0.0001	0.0005	0	0	0	0.0016	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.816e-05	0	0.0001	0	0	0	0.0034	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1289.94	34	chr2	219004185	.	CTCT	C	1289.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=772;ExcessHet=0.0000;FS=2.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.85;ReadPosRankSum=0.855;SOR=0.425	GT:AD:DP:GQ:PL	0/1:31,34:65:99:1304,0,1188	20	0	1	0
chr2	232379060	232379060	A	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon2:c.A166G:p.K56E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.956	D	0.000	D	0.977	D	3.65	H	-4.45	D	1.006	D	0.946	D	0.293	2.125	13.06	2.32	1.065	6.515	4.975	0.537	0.12471556478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.022	0.57587	D	0.99	0.63424	D	0.956	0.69739	D	0.000000	0.84330	D	0.048823	0.976617	0.39292	D	3.5	0.92762	M	-4.45	0.97538	D	-3.33	0.66206	D	0.725	0.72656	1.006	0.97281	D	0.946	0.98222	D	10	0.9681376	0.96341	D	0.124716	0.80611	D	0.537	0.80605	0.823	0.93527	0.986406002549	0.98625	0.9694720816100146	0.96935	0.521686403637	0.49932	0.642269194126	0.58887	T	0.745307	0.92978	D	0.217415	0.75531	D	0.0745256	0.75213	D	0.984297335147858	0.75652	D	0.814918	0.46941	T	0.8930248	0.90768	0.714031	0.83124	0.8930248	0.90769	0.714031	0.83125	-11.492	0.82288	D	.	.	0.412	0.60226	A	.	.	4.395531	0.67869	25.2	0.99582015630016629	0.73040	0.97341	0.74138	D	AEFDGBI	0.599832	0.59270	D	0.456217009981731	0.64557	4.712891	0.231947892265508	0.51628	3.343751	0.0858958279427192	0.15994	0.421363	0.06395	0	0.547309	0.14657	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	2.32	2.32	0.27895	6.669000	0.74302	8.751000	0.78219	0.384000	0.20435	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.6391:0.183:0.0:0.1779	4.975	0.13484	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1423.98	113	chr2	232379060	.	A	G	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e+00;DP=2696;ExcessHet=0.0000;FS=1.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.82;MQRankSum=1.38;QD=12.17;ReadPosRankSum=-1.118e+00;SOR=0.848	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1438,0,1563	20	0	1	0
chr2	232768480	232768480	A	T	exonic	KCNJ13	.	nonsynonymous SNV	KCNJ13:NM_001172417:exon3:c.T554A:p.F185Y	Leber congenital amaurosis 16, Autosomal recessive;Snowflake vitreoretinal degeneration, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	2988420	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.954	P	0.719	P	0.000	D	1.000	D	2.79	M	-3.71	D	0.942	D	0.896	D	0.523	4.253	22.2	4.76	1.048	9.300	13.398	0.858	0.274973403937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	0.954	0.54400	P	0.719	0.54822	P	0.000000	0.84330	D	0.042564	1	0.81001	D	3.585	0.93597	H	-3.71	0.95387	D	-2.89	0.60665	D	0.624	0.68863	0.942	0.96279	D	0.896	0.96562	D	10	0.94090545	0.93416	D	0.274973	0.90020	D	0.858	0.95655	0.882	0.96934	0.88999436298	0.88890	0.6693653395676826	0.66874	1.51082159887	0.87234	0.680639743805	0.64361	T	0.756589	0.93372	D	0.246706	0.78291	D	0.117	0.78009	D	0.989587426185608	0.79812	D	0.834817	0.50404	T	0.67919654	0.76926	0.644773	0.79234	0.67919654	0.76927	0.644773	0.79235	-5.588	0.42683	T	0.27768476350658194	0.37245	0.39	0.61280	A	.;.	.;.	3.962911	0.58130	23.9	0.99343911415616659	0.60291	0.99296	0.94110	D	AEFDBI	.	.	.	0.722191096846923	0.81086	7.440829	0.698880156440357	0.82293	7.731376	0.999869056408493	0.44398	0.475973	0.10046	0	0.636889	0.57051	0	0.670488	0.60580	0	0.714379	0.83352	0	.	.	5.92	4.76	0.60189	9.290000	0.95109	4.677000	0.44304	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8688:0.1312:0.0:0.0	13.398	0.60309	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1841.98	33	chr2	232768480	.	A	T	1841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.289e+00;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-6.490e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1856,0,1957	20	0	1	0
chr2	233320749	233320749	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon5:c.G301A:p.A101T,	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	.	0	1474	42	6	0	54	0.017988	.	.	177079	not_provided|not_specified|Oguchi_disease|Retinitis_pigmentosa	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.016	B	0.005	B	0.738	N	1.000	N	0.805	L	2.62	T	-0.953	T	0.013	T	0.095	0.524	6.837	-0.751	-0.043	-0.398	0.131	0.082	.	0.0053	0.00519169	0.0072	0.0009	0.0108	0.0007	0.0003	0.0096	0.0111	0.0057	0.0046183	714	154602	rs141521563	0.0055	0.0055	0.0054	0.0056	0.0217	0.0054	0.0054	0.0186	0.0174	0.0014	0.0065	0.0039	7.618e-05	0.0008	0.0217	0.0060	0.0060	0.0039	0.0049	0.0049	0.0052	0.0047	0.0103	0.0047	0.0045	0.0090	0.0085	0.0012	0.0022	0.0103	0.0037	0	0.0005	0.0442	0.0070	0.0109	0.0033	0.388	0.11406	T	0.478	0.11968	T	0.016	0.17332	B	0.005	0.11217	B	0.738102	0.09799	N	0.890096	1	0.08975	N	0.27	0.09956	N	2.62	0.12988	T	0.04	0.06488	N	0.085	0.06190	-0.9528	0.40485	T	0.013	0.04985	T	10	0.00363034	0.00066	T	.	.	.	0.082	0.23913	.	.	0.254244900254	0.25046	0.17835848608187713	0.17754	0.116900116094	0.13183	0.233760118484	0.02257	T	0.039324	0.25150	T	-0.703368	0.00035	T	-0.779948	0.02455	T	0.00457881012053394	0.00049	T	.	.	.	0.048743807	0.08546	0.047433566	0.06829	0.060242333	0.12337	0.04567798	0.06200	-3.757	0.20164	T	.	.	0.062	0.01367	B	.;.	.;.	1.185281	0.15760	12.08	0.96521220570154986	0.30115	0.04053	0.09499	N	AEFDBI	0.087851	0.17813	N	-0.980965216979719	0.09011	0.4247244	-1.01176104578037	0.09525	0.4744348	0.744458308868908	0.23263	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	-0.751	0.10518	-0.611000	0.05718	-1.023000	0.06573	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.2868:0.244:0.2244:0.2448	0.131	0.00068	861	0.33516	Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1377.98	33	chr2	233320749	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.810e-01;DP=855;ExcessHet=0.0000;FS=8.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-1.331e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1392,0,1464	20	0	1	0
chr2	233729862	233729862	G	T	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G736T:p.V246L,	.	.	418	1092	9	3	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.88	P	0.651	P	.	.	1.000	N	-0.145	N	0.14	T	-1.045	T	0.103	T	0.133	-0.697	0.980	3.1	0.641	-1.663	4.207	0.107	0.0202958720907	0.0003	0.000399361	0.0008	0	0.0005	0.0001	0	0.0011	0.0022	0.0008	0.000705	109	154602	rs146461519	0.0005	0.0005	0.0004	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0001	0.0009	0.0011	2.519e-05	3.744e-05	0.0075	0.0004	0.0012	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	7.226e-05	0	0.0005	0.0012	0	0	0.0068	0.0007	0.0005	0.0008	0.647	0.04897	T	0.671	0.06284	T	0.88	0.48402	P	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.65	0.16133	N	0.14	0.60854	T	-0.12	0.08809	N	0.051	0.02272	-1.0446	0.15942	T	0.103	0.37869	T	9	0.020301044	0.00466	T	0.020296	0.42866	T	0.107	0.30369	0.35	0.34760	0.556500605119	0.55309	0.23874016186969665	0.23788	0.0746738777092	0.08380	.	.	.	0.062271	0.31873	T	-0.539274	0.00338	T	-0.592958	0.13411	T	0.0331653533117172	0.02498	T	0.250275	0.03772	T	0.057707038	0.11518	0.05807759	0.10671	0.057707038	0.11517	0.05807759	0.10670	-1.683	0.02185	T	0.11112597090426783	0.09469	0.163	0.36073	B	.	.	0.536588	0.09050	5.835	0.69367463529244211	0.08949	0.09681	0.15382	N	AEFBI	0.755393	0.69497	D	-0.722585577991354	0.15387	0.7750542	-0.823032687513184	0.13937	0.7257032	0.00719069019561272	0.11405	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	3.1	0.34780	-0.661000	0.05410	-2.619000	0.03542	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0899:0.3876:0.3797:0.1428	4.207	0.09952	509	0.75304	.	.	.	.	.	.	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	0.04762	5529.11	105	chr2	233729862	.	G	T	5529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.38;DP=2436;ExcessHet=0.1072;FS=1.104;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.98;MQRankSum=0.966;QD=11.94;ReadPosRankSum=0.376;SOR=0.610	GT:AD:DP:GQ:PL	0/1:120,110:230:99:2727,0,3358	19	0	2	0
chr2	233794447	233794447	T	C	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon8:c.T907C:p.Y303H,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	0.005	N	0.925	N	1.67	L	2.82	T	-1.101	T	0.043	T	0.693	3.631	18.47	5.32	2.142	2.269	11.941	0.097	0.0118389574031	.	.	0.0004	0	0	0	0	0.0012	0	0	3.88e-05	6	154602	rs757592602	7.724e-05	7.388e-05	6.633e-05	8.845e-05	0.0005	6.532e-05	6.071e-05	0.0001	7.633e-05	0	2.801e-05	0.0025	0	0	0.0005	2.688e-05	0.0002	1.262e-05	6.571e-05	6.567e-05	0.0001	1.345e-05	2.941e-05	3.517e-05	2.616e-05	4.88e-06	1.83e-06	0	0	0	0.0020	0	9.414e-05	0	2.941e-05	0	0	0.166	0.23183	T	0.0	0.92824	D	.	.	.	.	.	.	0.005206	0.32996	N	0.000000	0.925366	0.27194	N	.	.	.	2.82	0.10871	T	-2.47	0.53898	N	0.653	0.67304	-1.1009	0.03984	T	0.043	0.18618	T	8	0.05623001	0.06270	T	0.011839	0.29861	T	0.097	0.27909	.	.	0.0884992946249	0.08302	0.49130036931435644	0.49051	2.46197207718E-4	0.00014	.	.	.	0.007613	0.07006	T	-0.229851	0.16668	T	-0.319633	0.42616	T	0.0936735942959785	0.11647	T	0.772323	0.40326	T	0.07909447	0.18050	0.15544428	0.36437	0.07909447	0.18050	0.15544428	0.36436	-5.088	0.37780	T	.	.	0.329	0.55159	B	.;.	.;.	3.022806	0.40463	21.2	0.99746346453207069	0.83927	0.67803	0.33566	D	AEFDBI	0.322629	0.42507	N	0.271734676728941	0.54720	3.637042	0.339512877949414	0.57877	3.955403	0.9266842990445	0.26860	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	2.245000	0.42784	4.850000	0.45366	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.0:1.0	11.941	0.52188	758	0.50837	.;.	.	.	.	.	.	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	0.02381	599.98	34	chr2	233794447	.	T	C	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.011;DP=737;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.980;SOR=0.488	GT:AD:DP:GQ:PL	0/1:25,26:51:99:614,0,592	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,99,0:99:99:.:.:4302,299,0,4302,299,4302	5	7	8	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	1/2:17,17,21:63:11:537,16,603,11,0,267	0	0	1	0
chr3	4982904	4982904	C	T	exonic	BHLHE40	.	nonsynonymous SNV	BHLHE40:NM_003670:exon5:c.C451T:p.R151W,	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.948	D	0.000	D	0.993	D	1.1	L	0.82	T	-0.802	T	0.178	T	0.645	4.554	24.6	3.86	1.443	4.371	8.320	0.296	0.0567479942307	7.7e-05	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0	0.0001035	16	154602	rs371986656	8.893e-05	8.893e-05	8.303e-05	9.488e-05	0.0026	7.622e-05	7.167e-05	0.0016	0.0013	2.987e-05	8.944e-05	0.0003	0	1.872e-05	0.0026	6.655e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.673e-05	7.263e-05	7.908e-05	5.994e-05	7.249e-05	0	0	0.0017	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.99	0.63424	D	0.948	0.68536	D	0.000004	0.62929	D	0.102414	0.992635	0.41700	D	1.1	0.28011	L	0.82	0.48142	T	-4.36	0.76980	D	0.43	0.46928	-0.8023	0.55009	T	0.178	0.52412	T	10	0.35688382	0.52417	T	0.056748	0.66716	D	0.296	0.61616	.	.	0.439353512205	0.43558	0.22363461776965263	0.22278	2.45932965126	0.97411	0.591836094856	0.51753	T	0.475857	0.80673	T	-0.144576	0.29163	T	-0.208781	0.53813	T	0.239876892996844	0.22414	T	0.966903	0.87955	D	0.5697705	0.71048	0.46729422	0.69095	0.5697705	0.71049	0.46729422	0.69095	-9.727	0.72261	D	.	.	0.279	0.51254	B	.	.	5.504788	0.91624	32	0.99926423018357302	0.99103	0.83906	0.42997	D	AEFDBHCIJ	0.729369	0.67710	D	0.506603484544409	0.67479	5.087161	0.510566766554533	0.68701	5.256397	0.999999982044027	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.471687	0.07189	1	0.657601	0.63696	0	.	.	5.86	3.86	0.43689	4.390000	0.59409	4.061000	0.41587	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.4677:0.4195:0.1127:0.0	8.320	0.31283	946	0.12043	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	944.98	34	chr3	4982904	.	C	T	944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=819;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=0.696;SOR=0.895	GT:AD:DP:GQ:PL	0/1:66,38:104:99:959,0,1673	20	0	1	0
chr3	30801025	30801025	C	A	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon12:c.G1114T:p.D372Y,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.41	M	0.94	T	-0.144	T	0.303	T	0.357	4.753	26.6	5.47	2.571	7.487	19.317	0.561	.	0.0052	0.00439297	0.0014	0.0138	0.0011	0	0	0.0002	0.0022	6.057e-05	0.0013648	211	154602	rs61738477	0.0005	0.0005	0.0005	0.0004	0.0124	0.0005	0.0004	0.0114	0.0110	0.0124	0.0011	0.0013	0	0	0.0021	0.0001	0.0011	6.956e-05	0.0040	0.0040	0.0041	0.0039	0.0136	0.0038	0.0037	0.0126	0.0123	0.0136	0	0.0020	0.0009	0	0	0.0034	0.0002	0.0024	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.052957	1	0.81001	D	3.69	0.94526	H	0.94	0.43672	T	-7.99	0.96426	D	0.965	0.97535	-0.1436	0.79076	T	0.303	0.67390	T	10	0.01490885	0.00313	T	.	.	.	0.561	0.82003	.	.	0.459729313489	0.45597	0.7278240969582181	0.72726	0.0574446770939	0.06361	0.84524166584	0.88895	D	0.227642	0.59298	T	-0.353625	0.04503	T	-0.269058	0.47914	T	0.12715553499872	0.15116	T	0.987101	0.95588	D	0.95801264	0.97080	0.918273	0.96276	0.95801264	0.97080	0.918273	0.96277	-13.758	0.92244	D	.	.	0.541	0.66419	A	.;.	.;.	5.469663	0.91256	32	0.99561973311622809	0.71831	0.98566	0.84167	D	AEFI	0.931686	0.92087	D	0.961916907303795	0.94446	12.76468	0.89364388396614	0.95290	13.48329	0.999999999899345	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	7.568000	0.81546	4.932000	0.46138	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	19.317	0.94206	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	833.98	50	chr3	30801025	.	C	A	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.102e+00;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.353;SOR=0.651	GT:AD:DP:GQ:PL	0/1:37,36:73:99:848,0,932	20	0	1	0
chr3	31615122	31615122	A	G	exonic	STT3B	.	nonsynonymous SNV	STT3B:NM_178862:exon6:c.A895G:p.I299V,	.	.	.	.	.	.	.	.	.	.	.	576105	not_specified|STT3B-congenital_disorder_of_glycosylation	MedGen:CN169374|MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597,Orphanet:370924	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.003	B	0.015	B	0.000	D	1.000	D	0.315	N	.	.	-0.998	T	0.101	T	0.615	1.156	9.706	5.42	2.063	9.339	15.457	0.334	0.00375907908595	0.0003	0.000199681	0.0003	9.737e-05	8.842e-05	0	0	0.0005	0.0011	0.0004	0.000304	47	154602	rs141238380	0.0002	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0024	0.0021	0.0001	9.011e-05	0.0044	0	0	0.0036	8.657e-05	0.0005	0.0005	0.0001	0.0001	0.0002	6.729e-05	0.0002	9.162e-05	7.716e-05	0.0001	7.922e-05	0	0	6.551e-05	0.0020	0	0	0	0.0002	0	0.0002	0.829	0.02891	T	1.0	0.01155	T	0.003	0.11197	B	0.015	0.17295	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	.	.	.	-0.45	0.14782	N	0.514	0.54496	-0.9976	0.30590	T	0.101	0.37316	T	9	0.017612785	0.00377	T	0.003759	0.08744	T	0.334	0.65620	.	.	0.352477664867	0.34857	0.17869378322898974	0.17788	0.746411170495	0.63544	0.832922875881	0.87010	D	0.095603	0.39655	T	-0.164939	0.26002	T	-0.156627	0.58654	T	0.102694493311986	0.12651	T	0.913109	0.69007	D	0.21388306	0.43779	0.20261052	0.44297	0.21388306	0.43779	0.20261052	0.44296	-2.661	0.06981	T	.	.	0.059	0.00780	B	.	.	3.004351	0.40157	21.1	0.85337261020628863	0.15830	0.97580	0.75684	D	AEFDGBCI	0.948813	0.96082	D	-0.181316931352221	0.33912	1.929504	0.0738886304119417	0.43241	2.629908	0.999999999996617	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.42	5.42	0.78666	9.246000	0.94587	9.275000	0.79667	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.457	0.75050	703	0.57489	.	.	.	.	.	.	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	0.02381	1571.98	34	chr3	31615122	.	A	G	1571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.290e-01;DP=841;ExcessHet=0.0000;FS=2.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-1.832e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1586,0,1526	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:28,24,0,0,0,0,0:54:99:925,0,1101,969,1166,2106,969,1166,2106,2106,969,1166,2106,2106,2106,969,1166,2106,2106,2106,2106,969,1166,2106,2106,2106,2106,2106	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:28,24,0,0,0,0,0:54:99:925,0,1101,969,1166,2106,969,1166,2106,2106,969,1166,2106,2106,2106,969,1166,2106,2106,2106,2106,969,1166,2106,2106,2106,2106,2106	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:28,24,0,0,0,0,0:54:99:925,0,1101,969,1166,2106,969,1166,2106,2106,969,1166,2106,2106,2106,969,1166,2106,2106,2106,2106,969,1166,2106,2106,2106,2106,2106	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:28,24,0,0,0,0,0:54:99:925,0,1101,969,1166,2106,969,1166,2106,2106,969,1166,2106,2106,2106,969,1166,2106,2106,2106,2106,969,1166,2106,2106,2106,2106,2106	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:28,24,0,0,0,0,0:54:99:925,0,1101,969,1166,2106,969,1166,2106,2106,969,1166,2106,2106,2106,969,1166,2106,2106,2106,2106,969,1166,2106,2106,2106,2106,2106	1	2	2	0
chr3	44500208	44500208	T	C	exonic	ZNF852	.	nonsynonymous SNV	ZNF852:NM_001287349:exon4:c.A569G:p.N190S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.005	B	0.012	B	.	.	1.000	N	.	.	3.21	T	-0.941	T	0.012	T	0.04	0.941	8.838	-1.51	-0.014	-3.027	1.694	0.035	0.00212759741903	.	.	8.348e-06	0	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs542684092	7.525e-06	7.525e-06	5.445e-06	9.625e-06	0.0002	4.04e-06	2.95e-06	3.85e-06	2.24e-06	0	0	0	0	0	0.0002	7.194e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.097	0.39190	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	-2.47	0.53898	N	0.11	0.09631	-0.9407	0.42505	T	0.012	0.04463	T	8	0.08588207	0.14543	T	0.002128	0.03962	T	0.035	0.08770	.	.	0.112648838833	0.10856	0.007488179012871869	0.00714	0.0239244096064	0.02427	0.332486927509	0.15310	T	0.061498	0.31670	T	-0.444649	0.01214	T	-0.812838	0.01602	T	0.0335013898511973	0.02554	T	.	.	.	0.07270703	0.16195	0.06651357	0.13637	0.07270703	0.16195	0.06651357	0.13636	-4.064	0.24757	T	.	.	0.080	0.07985	B	.;.	.;.	1.069593	0.14516	11.09	0.94163628293327406	0.24372	0.02528	0.07037	N	AEFGBCI	0.100135	0.20141	N	-0.88855109146911	0.11114	0.5346216	-0.909477415259426	0.11870	0.607371	0.0136381142826571	0.12491	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.27	-1.51	0.08207	-2.629000	0.00946	-0.635000	0.08105	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.987000	0.62547	0.1519:0.1042:0.3088:0.4352	1.694	0.02686	323	0.86843	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1775.98	38	chr3	44500208	.	T	C	1775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.199;DP=928;ExcessHet=0.0000;FS=7.375;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.98;MQRankSum=-6.480e-01;QD=15.58;ReadPosRankSum=-4.110e-01;SOR=0.286	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1790,0,1326	20	0	1	0
chr3	44570267	44570267	A	G	exonic	ZKSCAN7	.	nonsynonymous SNV	ZKSCAN7:NM_001288592:exon5:c.A704G:p.D235G	.	.	392	1096	31	3	0	37	0.0165994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.016	B	0.012	B	.	.	1.000	N	1.05	L	5.4	T	-0.974	T	0.017	T	0.205	1.655	11.49	1.76	0.187	-1.906	5.422	0.018	0.00254541482837	0.0012	0.00219649	0.0028	0.0003	0.0010	0	0.0021	0.0029	0.0033	0.0071	0.002639	408	154602	rs149725884	0.0022	0.0022	0.0020	0.0024	0.0114	0.0021	0.0021	0.0092	0.0084	0.0004	0.0018	0.0085	0	0.0029	0.0114	0.0017	0.0029	0.0070	0.0019	0.0019	0.0016	0.0022	0.0064	0.0017	0.0016	0.0046	0.0040	0.0003	0	0.0017	0.0081	0	0.0034	0.0204	0.0021	0.0028	0.0064	0.027	0.51248	D	0.087	0.44702	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	5.4	0.07478	T	-4.08	0.75456	D	0.282	0.31925	-0.9744	0.36257	T	0.017	0.06902	T	9	0.0050780475	0.00110	T	0.002545	0.05093	T	0.018	0.03083	.	.	0.198526703765	0.19489	0.04919153974845222	0.04862	0.0997049403275	0.11260	0.230041772127	0.01971	T	0.183488	0.53585	T	-0.589298	0.00169	T	-0.615537	0.11539	T	0.0203927922993898	0.00739	T	.	.	.	0.18759097	0.40220	0.24652185	0.50163	0.18759097	0.40219	0.24652185	0.50162	-5.464	0.41530	T	.	.	0.107	0.28721	B	.;.;.	.;.;.	1.275397	0.16744	12.74	0.99518469052978487	0.69100	0.05613	0.11520	N	AEFGBI	0.086814	0.17603	N	-0.778841391921358	0.13862	0.6860513	-0.750185981825502	0.15717	0.8280359	0.0106314440060842	0.12057	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.616125	0.45549	0	.	.	4.22	1.76	0.23776	-1.488000	0.02413	0.142000	0.15184	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.595000	0.31264	0.566:0.3409:0.0931:0.0	5.422	0.15706	333	0.86326	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4802.11	33	chr3	44570267	.	A	G	4802.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.10;DP=1081;ExcessHet=0.1072;FS=0.521;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.97;MQRankSum=1.35;QD=11.95;ReadPosRankSum=0.876;SOR=0.662	GT:AD:DP:GQ:PL	0/1:89,86:175:99:2186,0,2165	19	0	2	0
chr3	46439418	46439418	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon15:c.G1654A:p.D552N	.	.	417	1104	1	0	0	1	0.000452694	.	.	3284606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.369	B	0.159	B	0.000	N	0.999	D	1.84	L	2.88	T	-1.080	T	0.029	T	0.091	1.503	10.97	3.44	0.872	1.843	10.365	0.097	0.0122511592512	.	0.000199681	2.477e-05	0	0	0.0001	0	3.003e-05	0	0	3.88e-05	6	154602	rs139367879	4.583e-05	4.583e-05	4.628e-05	4.538e-05	0.0003	3.661e-05	3.347e-05	0.0002	0.0001	5.974e-05	0	0	0.0003	0	0.0002	4.317e-05	4.968e-05	1.159e-05	3.939e-05	3.937e-05	3.854e-05	4.028e-05	0.0002	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.238	0.18691	T	0.703	0.05663	T	0.369	0.34063	B	0.098	0.34693	B	0.000381	0.44960	N	0.225326	0.984441	0.45899	D	1.39	0.34934	L	2.88	0.10291	T	-3.23	0.65056	D	0.3	0.34120	-1.0799	0.07368	T	0.029	0.12541	T	10	0.12420565	0.23587	T	0.012251	0.30654	T	0.097	0.27909	.	.	0.555947139552	0.55254	0.7251976301812381	0.72463	0.0866349521193	0.09775	0.382712930441	0.22640	T	0.132977	0.46338	T	-0.426717	0.01552	T	-0.681598	0.06886	T	0.265597999095917	0.23558	T	0.90471	0.67274	D	0.37676847	0.59082	0.31935477	0.57897	0.37676847	0.59082	0.31935477	0.57896	-5.74	0.44048	T	.	.	0.118	0.27642	B	.;.;.;.	.;.;.;.	1.746098	0.22217	15.53	0.99411815944299875	0.63310	0.82753	0.41938	D	AEFDBI	0.151413	0.27589	N	-0.195862707913945	0.33306	1.888077	-0.161318073459902	0.32975	1.881447	0.99899201617685	0.38161	0.603402	0.35316	0	0.548873	0.16688	0	0.565031	0.19037	0	0.616125	0.45549	0	.	.	5.23	3.44	0.38486	1.416000	0.34366	0.809000	0.21733	0.530000	0.24713	0.704000	0.28664	0.237000	0.23824	0.031000	0.13245	0.0:0.8358:0.0:0.1642	10.365	0.43200	423	0.81269	Transferrin-like domain|Transferrin family, iron binding site|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin family, iron binding site|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin family, iron binding site|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	965.98	37	chr3	46439418	.	C	T	965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=1554;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-5.540e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:55,37:92:99:980,0,1409	20	0	1	0
chr3	48464906	48464906	G	A	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_032166:exon11:c.G2050A:p.D684N	.	.	408	1097	17	0	0	17	0.00768883	.	.	708907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.003	B	0.001	B	0.680	N	1.000	N	1.39	L	1.49	T	-1.008	T	0.087	T	0.03	0.318	5.722	2.48	0.355	1.042	6.684	0.018	0.00723937868986	0.0007	0.000199681	0.0013	9.714e-05	0.0036	0	0	0.0016	0.0023	0.0008	0.0012031	186	154602	rs72556553	0.0011	0.0011	0.0011	0.0012	0.0062	0.0011	0.0011	0.0046	0.0041	0.0001	0.0029	0.0111	0	5.627e-05	0.0062	0.0009	0.0020	0.0011	0.0010	0.0010	0.0011	0.0009	0.0020	0.0009	0.0008	0.0014	0.0012	9.62e-05	0	0.0020	0.0101	0	9.411e-05	0.0034	0.0011	0.0033	0.0006	0.479	0.08310	T	0.492	0.11479	T	0.003	0.11197	B	0.001	0.04355	B	0.679752	0.06085	N	1.149250	1	0.08975	N	0.895	0.22405	L	0.9	0.45248	T	-0.37	0.13226	N	0.103	0.13484	-1.0076	0.27665	T	0.087	0.33746	T	10	0.004082948	0.00080	T	0.007239	0.19198	T	0.018	0.03083	.	.	0.334659703779	0.33074	0.11301899000864628	0.11229	0.258188672319	0.28376	0.30975189805	0.11870	T	0.039457	0.25195	T	-0.68804	0.00043	T	-0.764463	0.02955	T	0.00635914047982672	0.00071	T	0.537746	0.20399	T	0.03663581	0.04544	0.028701387	0.01131	0.03663581	0.04543	0.028701387	0.01130	-7.755	0.59389	D	.	.	0.089	0.23290	B	.;.;.;.	.;.;.;.	1.334713	0.17401	13.14	0.94526634016363031	0.25021	0.17013	0.19650	N	AEFDGBCI	0.098768	0.19895	N	-0.945492110339035	0.09794	0.4651211	-0.927572186066435	0.11445	0.5830757	0.999999851282098	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.662433	0.64102	0	.	.	5.26	2.48	0.29194	1.295000	0.32983	2.528000	0.33154	-0.119000	0.14319	0.003000	0.16062	0.086000	0.22461	0.768000	0.36443	0.1671:0.1532:0.6797:0.0	6.684	0.22321	13	0.98894	.;.;.;.	.	.	.	.	.	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	0.02381	1740.98	38	chr3	48464906	.	G	A	1740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.860e-01;DP=939;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=1.23;SOR=0.724	GT:AD:DP:GQ:PL	0/1:82,75:157:99:1755,0,1973	20	0	1	0
chr3	49302400	49302400	T	C	exonic	USP4	.	nonsynonymous SNV	USP4:NM_199443:exon9:c.A1130G:p.N377S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.001	B	0.000	D	1.000	D	1.205	L	4.2	T	-0.949	T	0.010	T	0.02	2.370	13.88	4.42	0.946	2.862	10.494	0.188	0.00741437018486	0.0024	0.000798722	0.0017	0.0006	0.0004	0	0.0009	0.0026	0	0.0005	0.0016753	259	154602	rs61760236	0.0029	0.0029	0.0030	0.0027	0.0034	0.0028	0.0028	0.0033	0.0032	0.0004	0.0006	0.0049	5.038e-05	0.0010	0.0002	0.0034	0.0027	0.0005	0.0017	0.0017	0.0019	0.0016	0.0029	0.0016	0.0015	0.0025	0.0024	0.0006	0	0.0004	0.0046	0.0002	0.0010	0	0.0029	0.0024	0.0012	0.113	0.28772	T	0.14	0.33554	T	0.0	0.02946	B	0.001	0.04355	B	0.000003	0.62929	D	0.137094	0.999351	0.46766	D	1.525	0.38595	L	4.2	0.02689	T	-1.19	0.32991	N	0.109	0.09490	-0.9489	0.41160	T	0.010	0.03673	T	10	0.010833532	0.00239	T	0.007414	0.19657	T	0.188	0.46444	.	.	0.627837047935	0.62479	0.21543957155777915	0.21459	0.13872184068	0.15641	0.282271385193	0.07811	T	0.070319	0.33931	T	-0.696476	0.00038	T	-0.776581	0.02558	T	0.00725335113823611	0.00083	T	0.780122	0.42156	T	0.11124601	0.26289	0.14050235	0.33490	0.11124601	0.26288	0.14050235	0.33489	-5.026	0.37121	T	.	.	0.058	0.01577	B	.;.	.;.	2.141761	0.27274	17.41	0.98689296671829341	0.44738	0.94637	0.61818	D	AEFBI	0.312691	0.41805	N	-0.172968809401075	0.34264	1.953588	-0.00609792394453823	0.39440	2.338434	0.998294531879183	0.36710	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	4.42	0.52775	2.328000	0.43526	1.495000	0.26916	-0.112000	0.15009	0.949000	0.33028	0.972000	0.29809	0.987000	0.62547	0.0:0.0771:0.0:0.9229	10.494	0.43955	1	0.99630	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	801.98	39	chr3	49302400	.	T	C	801.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=776;ExcessHet=0.0000;FS=3.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-1.846e+00;SOR=1.121	GT:AD:DP:GQ:PL	0/1:41,30:71:99:816,0,1017	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:44,42,2:88:99:1559,0,1879,1607,1754,3436	0	4	6	0
chr3	49531406	49531406	A	G	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon3:c.A895G:p.I299V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.128	B	0.099	B	0.000	D	1.000	D	0.64	N	-1.05	T	-0.693	T	0.278	T	0.451	2.144	13.13	5.9	2.255	9.331	15.314	0.260	0.00720697947761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	0.362	0.16865	T	0.128	0.27003	B	0.099	0.30579	B	0.000000	0.84330	D	0.044737	0.999999	0.58761	D	1.78	0.46185	L	-1.05	0.76690	T	0.2	0.04861	N	0.228	0.26111	-0.6931	0.60763	T	0.278	0.64977	T	10	0.24316385	0.41525	T	0.007207	0.19116	T	0.260	0.57221	0.603	0.73466	0.585711994654	0.58244	0.5763578935418062	0.57564	0.340128767297	0.35956	0.41422110796	0.27040	T	0.322071	0.69311	T	0.0405564	0.57119	T	-0.17952	0.56567	T	0.747189939022064	0.43129	D	0.974802	0.91047	D	0.09092799	0.21290	0.109521486	0.26397	0.09092799	0.21290	0.109521486	0.26396	-3.126	0.11597	T	0.18836833540800485	0.24598	0.130	0.27762	B	.;.;.;.;.;.	.;.;.;.;.;.	2.775108	0.36435	20.2	0.98905322902983706	0.48272	0.97411	0.74579	D	AEFDBCI	0.967513	0.98998	D	0.0588677162102778	0.44552	2.727111	0.283290708691222	0.54563	3.620957	0.99999999751571	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.452000	0.79743	11.197000	0.88883	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.314	0.73764	1	0.99630	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1788.98	35	chr3	49531406	.	A	G	1788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.434e+00;DP=904;ExcessHet=0.0000;FS=2.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=1.23;SOR=0.525	GT:AD:DP:GQ:PL	0/1:63,73:136:99:1803,0,1642	20	0	1	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q,	.	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.629	P	0.579	P	0.289	N	1.000	D	1.745	L	-0.3	T	-0.530	T	0.371	T	0.618	3.660	18.60	5.75	2.725	4.664	19.952	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	243.39	114	chr3	49686750	.	C	G	243.39	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.97;DP=2002;ExcessHet=0.0000;FS=57.994;InbreedingCoeff=-0.0410;MLEAC=1;MLEAF=0.025;MQ=49.56;MQRankSum=-5.023e+00;QD=2.80;ReadPosRankSum=-8.590e-01;SOR=3.187	GT:AD:DP:GQ:PL	0/1:70,17:87:99:257,0,2024	19	0	1	1
chr3	49686764	49686764	T	C	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.A767G:p.N256S,	.	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.97	D	0.684	P	0.021	N	1.000	D	3.62	H	-1.18	T	0.555	D	0.653	D	0.316	5.396	34	5.75	2.201	7.789	16.066	0.716	0.123556366319	.	.	0.0007	0.0016	0.0003	0.0006	0	0.0005	0	0.0010	0.0004226	11	26028	rs200307945	6.863e-07	6.704e-05	0	1.38e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	7.438e-05	0.0022	7.925e-05	6.928e-05	0.0001	4.084e-05	3.21e-05	2.373e-05	1.153e-05	7.357e-05	0	0.0001	0	0	0.0002	0	6.064e-05	0	0	0.019	0.50132	D	0.028	0.54934	D	0.919	0.50927	P	0.434	0.45506	B	0.021110	0.26899	N	0.174647	0.999999	0.81001	D	.	.	.	-1.18	0.78314	T	-4.26	0.76174	D	0.858	0.85449	0.555	0.91299	D	0.653	0.87931	D	10	0.7457582	0.75276	D	0.123556	0.80474	D	0.716	0.89922	.	.	0.948330180838	0.94778	0.8698068499494038	0.86945	0.884775936026	0.69930	0.722264707088	0.70377	T	.	.	.	0.0775077	0.61747	D	-0.126442	0.61271	T	0.449991984269792	0.30797	T	0.832017	0.49964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73467	P	.	.	4.487158	0.70057	25.5	0.99828707284819318	0.91112	0.95135	0.63566	D	AEFBCI	0.948508	0.96021	D	0.820820393681501	0.87389	9.201381	0.795232453656589	0.89459	9.983935	0.999999999999984	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	7.769000	0.84183	7.797000	0.69042	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.066	0.80684	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	98.03	80	chr3	49686764	.	T	C	98.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.73;DP=1724;ExcessHet=0.0000;FS=41.885;InbreedingCoeff=-0.0280;MLEAC=1;MLEAF=0.024;MQ=49.14;MQRankSum=-4.277e+00;QD=1.17;ReadPosRankSum=-3.380e-01;SOR=4.972	GT:AD:DP:GQ:PL	0/1:73,11:84:99:112,0,2223	20	0	1	0
chr3	53876082	53876082	-	GGGG	splicing	ACTR8	NM_022899:exon7:c.779-2->CCCC	.	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	9.259e-05	0	0	0	0	0	0.0001811	28	154602	rs370490982	0.0002	0.0002	0.0002	0.0001	0.0056	0.0001	0.0001	0.0049	0.0047	0.0056	0.0003	0	0	0	0.0005	6.407e-06	0.0005	3.588e-05	0.0024	0.0025	0.0023	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0014	0	0	0	0	1.497e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	9238.32	34	chr3	53876082	.	T	TG,TGGGG	9238.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.075;DP=1434;ExcessHet=0.9430;FS=1.872;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-6.550e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:46,35,0:81:99:749,0,1613,888,1718,2606	13	1	6	0
chr3	57377165	57377165	T	C	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon53:c.A8281G:p.M2761V,	.	.	1164	354	4	0	0	4	0.00561798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1019166870	0	9.701e-05	.	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	0.0035	0.0035	0.0039	0.0030	0.0061	0.0032	0.0031	0.0057	0.0055	0.0013	0	0.0022	0.0003	0.0002	0.0004	0	0.0061	0.0028	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.34767	.	.	.	.	.	.	.	0.08644739	0.14696	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582561	0.86353	D	.	.	.	.	.	.	.	.	.	0.640736	0.25328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	2.637005	0.34303	19.59	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.771000	0.47354	2.952000	0.35717	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	.	.	.	301	0.87912	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2032.11	43	chr3	57377165	.	T	C	2032.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.02;DP=906;ExcessHet=0.1072;FS=2.150;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.509;SOR=0.521	GT:AD:DP:GQ:PL	0/1:21,32:53:99:926,0,536	19	0	2	0
chr3	58410115	58410115	A	T	exonic	PXK	.	nonsynonymous SNV	PXK:NM_001289101:exon13:c.A1010T:p.N337I	.	.	425	1006	84	7	0	98	0.0464455	.	.	698265	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.873	P	0.522	P	0.091	N	0.981	N	-0.895	N	2.97	T	-1.130	T	0.037	T	0.366	2.231	13.42	4.77	2.268	3.383	3.751	0.062	.	0.0061	0.00938498	0.0100	0.0005	0.0051	0.0001	0.0005	0.0071	0.0166	0.0396	0.0090361	1397	154602	rs140203295	0.0070	0.0071	0.0058	0.0083	0.0404	0.0069	0.0069	0.0393	0.0388	0.0008	0.0048	0.0152	0.0001	0.0014	0.0397	0.0048	0.0090	0.0404	0.0052	0.0052	0.0049	0.0054	0.0402	0.0049	0.0048	0.0356	0.0338	0.0005	0	0.0062	0.0193	0.0004	0.0011	0.0408	0.0055	0.0061	0.0402	0.189	0.41915	T	0.329	0.48336	T	0.003	0.35474	B	0.002	0.41396	B	0.090595	0.20368	N	0.575787	0.980644	0.25097	N	0.805	0.20218	L	2.97	0.50976	T	-1.47	0.97995	N	0.393	0.47115	-1.1302	0.01772	T	0.037	0.15943	T	10	0.0034009814	0.00059	T	.	.	.	0.101	0.28911	.	.	0.525991642533	0.52246	0.22060369571048527	0.21975	0.33564811506	0.35560	0.551083683968	0.46010	T	0.002897	0.40318	T	-0.432092	0.01440	T	-0.36417	0.37570	T	0.0238539316806345	0.01126	T	0.865113	0.57764	D	0.083946615	0.19406	0.05076319	0.08032	0.083946615	0.19406	0.05076319	0.08031	-3.109	0.11399	T	.	.	0.091	0.38906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.187903	0.43297	21.7	0.9717033229360339	0.32673	0.91707	0.54093	D	AEFBI	0.308053	0.41475	N	-0.17860360165214	0.34027	1.937292	0.0645200009892415	0.42780	2.593573	0.999890105895091	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.9	4.77	0.60425	3.456000	0.52764	5.312000	0.48266	0.741000	0.86335	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.7798:0.0:0.2202:0.0	3.751	0.08092	335	0.86220	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	0.04762	3228.11	33	chr3	58410115	.	A	T	3228.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.730e-01;DP=882;ExcessHet=0.1072;FS=0.526;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=0.031;SOR=0.767	GT:AD:DP:GQ:PL	0/1:36,59:95:99:1540,0,889	19	0	2	0
chr3	63912809	63912809	T	G	exonic	ATXN7	.	nonsynonymous SNV	ATXN7:NM_001177387:exon2:c.T211G:p.S71A	Spinocerebellar ataxia 7, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	205437	Abnormality_of_neuronal_migration|not_provided	Human_Phenotype_Ontology:HP:0002269,Human_Phenotype_Ontology:HP:0007317,MedGen:C1837249|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.279	N	1.000	N	0.695	N	1.41	T	-0.976	T	0.034	T	0.16	2.655	14.84	1.14	-0.069	.	5.221	0.045	0.0172955138425	0.0007	.	0.0006	0.0001	0	0	0	0.0010	0.0013	0	0.0004269	66	154602	rs201561286	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0002	0.0002	0.0001	0	0.0125	0	0	0.0007	0.0001	0.0012	2.431e-05	0.0005	0.0005	0.0005	0.0004	6.568e-05	0.0004	0.0003	1.981e-05	1.13e-05	4.84e-05	0	6.568e-05	0.0177	0	0	0	5.919e-05	0.0014	0	0.429	0.10980	T	0.114	0.38891	T	0.001	0.07471	B	0.001	0.06944	B	0.279070	0.14979	N	0.598130	0.965872	0.25919	N	0.695	0.17993	N	1.41	0.33412	T	-0.14	0.09135	N	0.174	0.19325	-0.9756	0.35993	T	0.034	0.14596	T	10	0.006044239	0.00136	T	0.017296	0.38942	T	0.045	0.12272	.	.	0.322284741503	0.31843	0.12574496820860298	0.14106	.	.	0.87267267704	0.92949	D	0.069252	0.33663	T	-0.314994	0.07315	T	-0.398095	0.33606	T	0.0604210256057831	0.07235	T	0.30037	0.05618	T	0.09729778	0.22933	0.08364016	0.19182	0.13301006	0.30952	0.093548566	0.22100	-2.814	0.08313	T	.	.	0.067	0.04041	B	.;.;.;.;.	.;.;.;.;.	2.103695	0.26765	17.23	0.96918329780256729	0.31605	0.56856	0.30225	D	AEFDGBHCI	0.084157	0.17054	N	-0.723406012256135	0.15364	0.7736977	-0.594490526011373	0.19635	1.054423	0.999999620142603	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.79	1.14	0.19817	0.954000	0.28772	4.183000	0.42351	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.218:0.0:0.2852:0.4968	5.221	0.14687	459	0.78817	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	781.98	33	chr3	63912809	.	T	G	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.280e-01;DP=775;ExcessHet=0.0000;FS=1.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=0.951;SOR=0.887	GT:AD:DP:GQ:PL	0/1:23,37:60:99:796,0,461	20	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	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,36:88:99:0|1:75730450_C_T:1315,0,2028:75730450	0	0	20	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,5:61:29:0|1:75730611_G_T:29,0,2230:75730611	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,26:115:99:.:.:409,0,3549	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	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	.	.	.	.	.	.	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	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,32:121:99:.:.:1052,0,3454	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	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	.	.	.	.	.	.	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	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,26:123:99:0|1:75736920_C_A:795,0,3944:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	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	.	.	.	.	.	.	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	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,25:124:99:0|1:75736920_C_A:752,0,4048:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:91,38:129:99:868,0,2714	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:88,44:132:99:1010,0,2705	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:88,61:149:99:1344,0,2624	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,62:146:99:0|1:75737092_C_T:2351,0,3340:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,66:150:99:0|1:75737092_C_T:2518,0,3328:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,65:152:99:0|1:75737092_C_T:2467,0,3457:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,52:141:99:0|1:75737092_C_T:1916,0,3581:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,32:114:99:0|1:75737092_C_T:1097,0,3337:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,6:71:45:0|1:75737228_T_C:45,0,2703:75737228	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	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	.	.	.	.	.	.	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	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,84:165:99:.:.:3095,0,3091	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	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	.	.	.	.	.	.	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	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,81:169:99:0|1:75737590_A_G:3074,0,3404:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,88:175:99:0|1:75737590_A_G:3433,0,3388:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,90:181:99:0|1:75737590_A_G:3505,0,3550:75737590	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,89:178:99:0|1:75737590_A_G:3469,0,3469:75737590	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,78:157:99:0|1:75737590_A_G:3037,0,3082:75737590	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,66:179:99:1|0:75737791_C_A:2400,0,4282:75737791	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,40:164:99:0|1:75737881_T_C:1164,0,5005:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,33:165:99:0|1:75737881_T_C:977,0,5420:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,34:167:99:0|1:75737881_T_C:996,0,5457:75737881	0	0	21	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	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	.	.	.	.	.	.	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	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:94,17:111:99:140,0,2837	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	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	.	.	.	.	.	.	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	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:60,26:86:99:505,0,1836	0	0	21	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L	.	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.41	B	0.071	B	0.000	D	1.000	D	2.215	M	0.88	T	-0.883	T	0.110	T	0.887	4.360	23.0	5.81	2.224	4.314	15.816	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3720.68	34	chr3	86968949	.	T	A	3720.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.67;DP=910;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.313;SOR=0.714	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1186,0,1007	18	0	3	0
chr3	97874311	97874311	G	C	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G3117C:p.K1039N,	.	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.612	P	0.169	B	.	.	.	.	0.55	N	.	.	-1.040	T	0.037	T	0.02	0.839	8.386	1.5	0.781	0.676	3.799	0.071	.	.	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0003	4.53e-05	7	154602	rs545501003	0.0001	0.0001	9.613e-05	0.0001	0.0011	0.0001	9.513e-05	0.0005	0.0003	0	9.001e-05	0	0	0	0.0011	9.751e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0012	8.163e-05	6.72e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	0.0002	0	0.0012	.	.	.	0.382	0.15890	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.01347	-1.0399	0.17343	T	0.037	0.15770	T	7	0.016171455	0.00340	T	.	.	.	.	.	0.245	0.17984	0.285316908763	0.28143	0.04143981067802156	0.04088	.	.	0.278338164091	0.07262	T	0.006264	0.05696	T	-0.54011	0.00334	T	-0.704739	0.05570	T	0.0271983793388053	0.01573	T	0.383762	0.09387	T	0.047787875	0.08224	0.07991907	0.18035	0.047787875	0.08224	0.07991907	0.18035	-3.106	0.11365	T	.	.	0.195	0.41572	B	.	.	1.118892	0.15045	11.54	0.98103698228327851	0.38294	0.07102	0.13128	N	AEFGBI	0.072287	0.14421	N	-0.701834051002309	0.15969	0.8095747	-0.704154069798076	0.16857	0.8937132	0.298767732514436	0.19166	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.76	1.5	0.22029	0.709000	0.25407	0.511000	0.19080	0.676000	0.76740	0.130000	0.23345	0.410000	0.24754	0.727000	0.35000	0.3031:0.1835:0.5134:0.0	3.799	0.08267	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1898.98	34	chr3	97874311	.	G	C	1898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.123e+00;DP=1349;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-6.560e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:67,71:138:99:1913,0,1909	20	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	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	.;.;.	.	.	.	.	.	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	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,11:34:57:.:.:57,0,356	4	0	17	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del	.	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3647.07	39	chr3	111885119	.	TCCTGTG	T	3647.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=930;ExcessHet=0.1072;FS=1.633;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=0.375;SOR=0.809	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1614,0,2537	19	0	2	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,21,27,0,0,0:48:99:1973,1126,1062,863,0,903,1990,1134,929,2046,1990,1134,929,2046,2046,1990,1134,929,2046,2046,2046	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,21,27,0,0,0:48:99:1973,1126,1062,863,0,903,1990,1134,929,2046,1990,1134,929,2046,2046,1990,1134,929,2046,2046,2046	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,21,27,0,0,0:48:99:1973,1126,1062,863,0,903,1990,1134,929,2046,1990,1134,929,2046,2046,1990,1134,929,2046,2046,2046	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/2:0,21,27,0,0,0:48:99:1973,1126,1062,863,0,903,1990,1134,929,2046,1990,1134,929,2046,2046,1990,1134,929,2046,2046,2046	0	4	0	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:67,30:106:71:71,0,1325	3	0	14	4
chr3	126536303	126536303	C	T	exonic	CHST13	.	nonsynonymous SNV	CHST13:NM_152889:exon2:c.C130T:p.L44F,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.002	B	0.586	N	0.999	D	0.69	N	-0.36	T	-0.959	T	0.140	T	0.087	-1.948	0.007	-0.307	-0.082	0.100	5.596	0.040	.	.	0.00638978	0.0035	9.615e-05	0.0005	0	0	0	0.0022	0.0249	0.0030013	464	154602	rs563070610	0.0015	0.0016	0.0008	0.0023	0.0245	0.0015	0.0015	0.0237	0.0233	2.987e-05	0	0	2.519e-05	0	0.0005	1.709e-05	0.0020	0.0245	0.0009	0.0009	0.0004	0.0015	0.0284	0.0008	0.0007	0.0245	0.0230	4.815e-05	0	0	0	0	0	0	0	0.0005	0.0284	0.738	0.03719	T	0.728	0.13595	T	0.001	0.07471	B	0.002	0.06944	B	0.586141	0.05565	N	1.302210	0.999885	0.19853	N	0.485	0.13215	N	-0.36	0.68754	T	-0.09	0.08340	N	0.064	0.06990	-0.9594	0.39293	T	0.140	0.45979	T	10	0.0020996034	0.00030	T	.	.	.	0.040	0.10527	.	.	0.354183961838	0.35022	0.3179856210019072	0.31711	0.740810662923	0.63252	0.392376542091	0.24004	T	0.005643	0.09998	T	-0.561158	0.00250	T	-0.560588	0.16321	T	0.00497875790134609	0.00054	T	0.439356	0.12115	T	0.042140625	0.06338	0.04485058	0.05903	0.042140625	0.06338	0.04485058	0.05903	-5.63	0.43066	T	.	.	0.087	0.14888	B	.;.	.;.	0.770130	0.11402	8.012	0.73274450521435752	0.10269	0.16647	0.19485	N	AEFBCI	0.101438	0.20374	N	-1.21528239744049	0.04777	0.2163607	-1.20707113094023	0.05795	0.2771557	0.987369287594694	0.31248	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	3.18	-0.307	0.12143	0.227000	0.17575	-0.483000	0.08907	-0.257000	0.07002	0.468000	0.26706	0.020000	0.20764	0.032000	0.13371	0.0:0.468:0.0:0.532	5.596	0.16611	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	781.98	33	chr3	126536303	.	C	T	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.930e-01;DP=774;ExcessHet=0.0000;FS=4.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.512;SOR=1.029	GT:AD:DP:GQ:PL	0/1:41,32:73:99:796,0,1112	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:99:0|1:128055734_T_C:181,0,1987:128055734	7	0	14	0
chr3	129571192	129571192	C	A	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon18:c.G3448T:p.V1150L,	.	.	404	1109	8	1	0	10	0.00448833	.	.	733778	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.011	B	0.01	B	0.231	N	1.000	N	0	N	1.4	T	-1.033	T	0.038	T	0.035	-1.196	0.074	-0.484	-0.094	-0.022	4.603	0.013	0.01238062834	0.0005	0.00119808	0.0015	9.643e-05	0.0005	0	0.0002	0.0008	0.0055	0.0067	0.0014036	217	154602	rs143564778	0.0011	0.0011	0.0008	0.0014	0.0082	0.0011	0.0011	0.0077	0.0075	0.0002	0.0009	0.0049	0	0.0001	0.0033	0.0006	0.0015	0.0082	0.0009	0.0009	0.0007	0.0010	0.0068	0.0008	0.0007	0.0050	0.0044	7.213e-05	0	0.0006	0.0060	0	0	0.0034	0.0010	0.0005	0.0068	0.727	0.03846	T	0.415	0.14326	T	0.011	0.15914	B	0.01	0.14941	B	0.231031	0.03518	N	1.572440	1	0.08975	N	-0.725	0.01781	N	1.4	0.33630	T	-0.44	0.14588	N	0.062	0.03392	-1.0330	0.19490	T	0.038	0.16333	T	10	0.0039209127	0.00075	T	0.012381	0.30901	T	0.013	0.01715	0.365	0.37199	0.267718591433	0.26370	0.4351068644668284	0.43427	0.284960885881	0.30907	0.431636363268	0.29432	T	0.046897	0.27563	T	-0.684087	0.00045	T	-0.751415	0.03431	T	8.65619440446608e-05	0.00001	T	0.472453	0.14032	T	0.03807716	0.05002	0.031896103	0.01845	0.03807716	0.05002	0.031896103	0.01845	-2.932	0.09467	T	.	.	0.081	0.08417	B	.	.	0.696240	0.10651	7.349	0.34656427979356147	0.02132	0.10482	0.15977	N	AEFDBCI	0.106629	0.21269	N	-1.52946612558314	0.01659	0.07255437	-1.49431515977113	0.02390	0.1098558	0.99855896386275	0.37186	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.91	-0.484	0.11469	0.182000	0.16710	0.837000	0.22005	-0.291000	0.06292	0.000000	0.06391	0.010000	0.20010	0.080000	0.17246	0.2188:0.2011:0.4946:0.0855	4.603	0.11756	538	0.73119	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1372.98	38	chr3	129571192	.	C	A	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.670e-01;DP=1174;ExcessHet=0.0000;FS=1.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.453;SOR=0.515	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1387,0,1664	20	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11,0,0:34:99:0|1:130421335_G_A:192,0,655,261,687,948,261,687,948,948:130421335	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11,0,0:34:99:0|1:130421335_G_A:192,0,655,261,687,948,261,687,948,948:130421335	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11,0,0:34:99:0|1:130421335_G_A:192,0,655,261,687,948,261,687,948,948:130421335	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	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	.	.	.	.	.	.	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	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11,0:34:99:0|1:130421335_G_A:192,0,655,261,687,948:130421335	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,11,0:34:99:0|1:130421335_G_A:192,0,655,261,687,948:130421335	0	0	14	6
chr3	130662194	130662194	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6388A:p.E2130K,	.	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.174	B	0.309	B	.	.	0.649	N	2.165	M	-1.66	D	-0.207	T	0.514	D	0.295	0.995	9.062	4.78	1.375	1.281	7.112	0.373	0.0611815695593	0.0002	0.000599042	0.0011	0	0.0003	0	0	0.0003	0.0033	0.0065	0.0008926	138	154602	rs200429976	0.0006	0.0006	0.0004	0.0008	0.0077	0.0006	0.0006	0.0072	0.0070	0	0.0003	0.0012	0	0	0.0033	0.0001	0.0007	0.0077	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	0	0	0.0006	0.0014	0	0	0.0068	0.0002	0	0.0066	0.088	0.32296	T	0.082	0.41573	T	0.039	0.21116	B	0.058	0.26451	B	.	.	.	.	0.649219	0.30548	N	2.48	0.72069	M	-1.66	0.82715	D	-2.28	0.50830	N	0.498	0.53093	-0.2070	0.77491	T	0.514	0.81758	D	9	0.01188013	0.00258	T	0.061182	0.68248	D	0.373	0.69188	.	.	0.406531046227	0.40268	0.4079324959314167	0.40709	0.0806668327485	0.09078	0.52365309	0.42141	T	0.114709	0.43274	T	-0.338567	0.05488	T	-0.254539	0.49367	T	0.0531989376292782	0.06054	T	0.872413	0.57909	D	0.11866565	0.27955	0.18451215	0.41509	0.098672666	0.23276	0.1712546	0.39294	-3.643	0.18481	T	.	.	0.113	0.22171	B	.	.	3.429545	0.47660	22.5	0.9830423841511623	0.40078	0.74050	0.36220	D	AEFBI	0.147713	0.27145	N	-0.165391378672198	0.34582	1.975645	-0.0918761058173602	0.35725	2.070279	0.136304898275317	0.17188	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.66	4.78	0.60666	1.505000	0.35344	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.2898:0.0:0.7102:0.0	7.112	0.24574	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	33	chr3	130662194	.	G	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.480e-01;DP=819;ExcessHet=0.0000;FS=2.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-3.870e-01;SOR=0.548	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1251,0,1765	20	0	1	0
chr3	136151262	136151262	C	T	exonic	MSL2	.	nonsynonymous SNV	MSL2:NM_001145417:exon2:c.G1397A:p.S466N	.	.	426	1087	8	1	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.879	P	0.306	B	0.000	D	1.000	D	1.1	L	.	.	-0.864	T	0.125	T	0.189	2.319	13.71	5.92	2.809	5.094	19.303	0.091	.	0.0065	0.00279553	0.0055	0.0012	0.0010	0	0.0154	0.0072	0.0055	0.0033	0.0054786	847	154602	rs137871177	0.0077	0.0077	0.0078	0.0077	0.0086	0.0076	0.0075	0.0085	0.0084	0.0011	0.0015	0.0026	7.557e-05	0.0142	0.0023	0.0086	0.0065	0.0037	0.0063	0.0063	0.0066	0.0060	0.0090	0.0060	0.0059	0.0084	0.0082	0.0019	0.0406	0.0033	0.0012	0	0.0140	0	0.0090	0.0066	0.0033	0.022	0.48642	D	0.178	0.29639	T	0.879	0.48338	P	0.306	0.41250	B	0.000005	0.62929	D	0.140129	0.999787	0.49076	D	0	0.06538	N	.	.	.	-0.99	0.26200	N	0.281	0.31814	-0.8644	0.50944	T	0.125	0.43028	T	9	0.0052244663	0.00114	T	.	.	.	0.091	0.26358	.	.	0.168254554758	0.16434	0.6944731440453235	0.69388	0.45666871823	0.45319	0.831970691681	0.86864	D	0.026569	0.19633	T	-0.447555	0.01167	T	-0.407839	0.32475	T	0.0224987702871604	0.00965	T	0.605039	0.22725	T	0.1581806	0.35601	0.18659426	0.41841	0.1581806	0.35601	0.18659426	0.41840	-4.373	0.29188	T	.	.	0.243	0.49596	B	.;.	.;.	4.154492	0.62344	24.4	0.99015273023445427	0.50463	0.95387	0.64521	D	AEFGBI	0.534980	0.55380	D	0.409758714844747	0.61959	4.404224	0.518309631908159	0.69223	5.329768	0.999999998742545	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	5.178000	0.64875	7.727000	0.67598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.303	0.94139	313	0.87327	.;.	.	.	.	.	rs137871177	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2583.98	33	chr3	136151262	.	C	T	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.703e+00;DP=876;ExcessHet=0.0000;FS=0.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-7.300e-01;SOR=0.774	GT:AD:DP:GQ:PL	0/1:84,95:179:99:2598,0,2369	20	0	1	0
chr3	138301683	138301683	G	A	exonic	NME9	.	nonsynonymous SNV	NME9:NM_001349020:exon9:c.C761T:p.A254V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.002	B	0.001	B	0.169	N	1.000	N	.	.	1.07	T	-1.029	T	0.043	T	0.067	0.774	8.088	-5.68	-1.718	-2.723	5.503	0.002	0.00294028734583	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs746163857	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	5.181e-05	2.524e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.941e-05	0	0	0.3	0.14497	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	0.169100	0.03097	N	1.759760	1	0.08975	N	-0.345	0.03330	N	1.07	0.39586	T	0.95	0.01509	N	0.092	0.07125	-1.0294	0.20649	T	0.043	0.18535	T	9	0.042090833	0.02926	T	0.00294	0.06250	T	0.002	0.00045	0.265	0.21103	0.0482279557977	0.04254	0.16696378132555736	0.16616	.	.	.	.	.	0.00219	0.01594	T	-0.508272	0.00513	T	-0.795416	0.02020	T	0.0510511072006611	0.05684	T	0.447055	0.12542	T	0.022347074	0.00891	0.035006262	0.02670	0.022347074	0.00890	0.035006262	0.02670	-4.602	0.32197	T	.	.	0.074	0.05017	B	.	.	-1.015106	0.00750	0.023	0.78020817689089572	0.12121	0.00321	0.01686	N	AEFI	0.036567	0.04893	N	-1.79661899566071	0.00553	0.02383157	-1.90498473980395	0.00479	0.02120179	0.940991862411001	0.27457	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.03	-5.68	0.02240	-2.733000	0.00874	-3.284000	0.02907	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3643:0.0:0.4097:0.226	5.503	0.16131	434	0.80536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1621.98	33	chr3	138301683	.	G	A	1621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=795;ExcessHet=0.0000;FS=3.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-1.126e+00;SOR=0.694	GT:AD:DP:GQ:PL	0/1:43,63:106:99:1636,0,917	20	0	1	0
chr3	140448648	140448648	T	A	exonic	CLSTN2	.	nonsynonymous SNV	CLSTN2:NM_022131:exon6:c.T917A:p.I306N,	.	.	425	1091	6	0	0	6	0.00274223	.	.	697859	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.896	P	0.000	D	1.000	D	2.985	M	0.72	T	-0.362	T	0.248	T	0.78	4.419	23.5	5.2	1.965	7.997	13.034	0.493	0.0978105766652	0.0048	0.00239617	0.0033	0.0016	0.0015	0	0.0014	0.0047	0.0022	0.0024	0.0034282	530	154602	rs41265459	0.0054	0.0054	0.0055	0.0053	0.0063	0.0053	0.0053	0.0062	0.0062	0.0010	0.0014	0.0081	0	0.0016	0.0040	0.0063	0.0039	0.0022	0.0036	0.0036	0.0039	0.0033	0.0057	0.0033	0.0032	0.0052	0.0050	0.0014	0.0033	0.0024	0.0109	0	0.0009	0	0.0057	0.0043	0.0015	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.896	0.63555	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	0.72	0.50976	T	-5.71	0.87457	D	0.914	0.91621	-0.3619	0.73207	T	0.248	0.61751	T	10	0.033489287	0.01527	T	0.097811	0.76836	D	0.493	0.77910	.	.	0.895227171874	0.89419	0.7803292918744039	0.77983	0.966996163592	0.73223	0.712702155113	0.68984	T	0.696357	0.91217	D	-0.172031	0.24929	T	-0.0165804	0.69254	D	0.0299720670178695	0.01985	T	0.979902	0.93196	D	0.8626946	0.88291	0.75548524	0.85550	0.8626946	0.88292	0.75548524	0.85550	-13.688	0.91999	D	.	.	0.726	0.74038	P	.	.	5.029218	0.83633	28.1	0.99418079785669466	0.63645	0.98108	0.79665	D	AEFBI	0.932384	0.92266	D	0.796845758482005	0.85907	8.718929	0.737815365233439	0.85245	8.523132	0.999999984462586	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	8.017000	0.88732	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	13.034	0.58269	829	0.39537	.	.	.	.	.	.	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	0.02381	788.98	33	chr3	140448648	.	T	A	788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=1.48;SOR=0.734	GT:AD:DP:GQ:PL	0/1:47,35:82:99:803,0,1098	20	0	1	0
chr3	151436721	151436721	C	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.G1777A:p.D593N	.	.	426	1058	35	3	0	41	0.0190079	.	.	720252	IGSF10-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.32	L	-0.28	T	-0.341	T	0.336	T	0.199	4.699	26.0	5.29	2.627	7.398	19.288	0.416	.	0.0050	0.00658946	0.0081	0.0007	0.0023	0	0.0014	0.0075	0.0069	0.0280	0.0075549	1168	154602	rs112889898	0.0063	0.0063	0.0056	0.0071	0.0249	0.0062	0.0062	0.0240	0.0236	0.0010	0.0018	0.0097	2.519e-05	0.0018	0.0139	0.0055	0.0065	0.0249	0.0042	0.0042	0.0041	0.0043	0.0239	0.0039	0.0038	0.0203	0.0190	0.0010	0	0.0020	0.0086	0	0.0009	0.0034	0.0059	0.0047	0.0239	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000236	0.47286	D	0.000000	1	0.81001	D	1.66	0.42513	L	-0.28	0.67543	T	-4.54	0.78472	D	0.472	0.50778	-0.3405	0.73829	T	0.336	0.70273	T	10	0.0074222684	0.00169	T	.	.	.	0.416	0.72631	.	.	0.852122049203	0.85070	0.5972429066985149	0.59655	0.181282988831	0.20385	0.47312232852	0.35109	T	0.229476	0.59530	T	-0.391988	0.02612	T	-0.316916	0.42911	T	0.0139233739256959	0.00266	T	0.840716	0.51609	T	0.74920493	0.80822	0.69958293	0.82302	0.74920493	0.80824	0.69958293	0.82303	-7.282	0.56067	T	.	.	0.230	0.46308	B	.	.	4.461008	0.69433	25.4	0.99910330546703607	0.98022	0.98755	0.86437	D	AEFDBI	0.935322	0.93002	D	0.644550737710421	0.76017	6.409421	0.625740768626065	0.76816	6.561028	0.999999999999983	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	7.520000	0.80737	4.851000	0.45376	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.288	0.94072	819	0.41190	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	0.02381	1079.98	33	chr3	151436721	.	C	T	1079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=794;ExcessHet=0.0000;FS=4.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-5.490e-01;SOR=1.308	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1094,0,959	20	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:103,0,27:130:26:0|1:155853644_G_C:26,332,3335,0,3003,2929:155853644	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992: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	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	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	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:103,0,27:130:26:0|1:155853644_G_C:26,332,3335,0,3003,2929:155853644	6	0	2	4
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	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	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,25:167:99:.:.:440,0,5069	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	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	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,20:169:99:0|1:157381269_G_C:249,0,6169:157381269	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,20,0:176:99:0|1:157381269_G_C:228,0,6355,697,6415,7113:157381269	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,20,0:176:99:0|1:157381269_G_C:228,0,6355,697,6415,7113:157381269	13	0	5	0
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3552.87	37	chr3	157381276	.	T	TCCCCC	3552.87	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.087e+00;DP=2099;ExcessHet=1.1607;FS=91.920;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=3.43;ReadPosRankSum=2.44;SOR=10.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,20:170:99:0|1:157381269_G_C:246,0,6120:157381269	13	0	5	3
chr3	165062441	165062441	G	T	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon9:c.C950A:p.T317N,	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.975	D	0.843	P	0.001	D	0.977	N	2.67	M	-1.98	D	0.203	D	0.676	D	0.139	3.715	18.87	-4.73	-0.843	-0.059	16.385	0.439	0.120812794583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.88e-07	2.052e-06	1.37e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.001	0.83351	D	0.975	0.58077	D	0.843	0.60313	P	0.000504	0.43753	D	0.259005	0.976719	0.25357	N	2.295	0.65404	M	-1.98	0.85247	D	-2.73	0.58085	D	0.44	0.47857	0.203	0.85955	D	0.676	0.88796	D	10	0.44495952	0.58338	T	0.120813	0.80144	D	0.439	0.74306	0.494	0.58206	0.889044093412	0.88795	0.5485015696087371	0.54776	0.212884074802	0.23798	0.380171895027	0.22281	T	0.187125	0.54063	T	-0.0721487	0.40984	T	-0.341413	0.40184	T	0.986967265605927	0.77558	D	0.919208	0.70896	D	0.79327613	0.83479	0.6850933	0.81484	0.79327613	0.83480	0.6850933	0.81485	-7.865	0.60146	D	.	.	0.476	0.63476	A	.	.	1.777882	0.22607	15.69	0.98603282728866282	0.43533	0.69331	0.34146	D	AEFI	0.366056	0.45401	N	-0.205142121343498	0.32921	1.862084	-0.40146809721185	0.24953	1.369474	1.32395717046154E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	-4.73	0.03022	-0.000000	0.12910	-3.397000	0.02818	-0.169000	0.11342	0.356000	0.25809	0.000000	0.08366	0.980000	0.58198	0.8194:0.0:0.1806:0.0	16.385	0.83337	898	0.25240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	413.98	34	chr3	165062441	.	G	T	413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=701;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=1.82;SOR=0.914	GT:AD:DP:GQ:PL	0/1:10,18:28:99:428,0,196	20	0	1	0
chr3	167627286	167627286	G	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C172G:p.Q58E	.	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	.	.	1.000	D	.	.	1.01	T	-1.094	T	0.016	T	0.005	0.553	6.994	5.1	1.287	3.412	14.996	0.125	.	.	0.0135783	0.0012	0.0159	0	0	0	0	0	0.025	0.0009508	147	154602	rs77319753	0.0014	0.0014	0.0014	0.0015	0.0269	0.0014	0.0014	0.0252	0.0245	0.0269	0.0032	0	7.53e-05	9.303e-05	0.0090	0.0004	0.0041	0.0141	0.0085	0.0085	0.0084	0.0085	0.0262	0.0081	0.0079	0.0250	0.0244	0.0262	0.0022	0.0037	0	0.0012	0	0.0068	0.0008	0.0071	0.0127	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	1.01	0.41058	T	0.51	0.02898	N	0.048	0.01999	-1.0941	0.04884	T	0.016	0.06425	T	8	0.0038439333	0.00073	T	.	.	.	0.125	0.34456	.	.	0.144782658237	0.14088	.	.	.	.	.	.	.	.	.	.	-0.674961	0.00051	T	-0.723387	0.04633	T	0.00859171539074002	0.00105	T	0.174383	0.01678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.00142	B	.;.	.;.	1.165256	0.15545	11.93	0.79373966206559421	0.12713	0.01533	0.05044	N	AEFI	0.056392	0.10421	N	-0.676723383152416	0.16687	0.8523274	-0.584740273411319	0.19891	1.069224	0.0113295462184001	0.12167	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	3.438000	0.52634	3.927000	0.40510	-0.174000	0.10959	1.000000	0.71638	1.000000	0.68203	0.275000	0.23893	0.0:0.8562:0.1438:0.0	14.996	0.71087	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3094.11	33	chr3	167627286	.	G	C	3094.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.64;DP=878;ExcessHet=0.1072;FS=0.539;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.936;SOR=0.622	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1593,0,1000	19	0	2	0
chr3	175755275	175755275	T	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon13:c.T2046A:p.S682R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.933	P	0.386	B	0.013	N	1.000	N	0.345	N	1.51	T	-1.022	T	0.037	T	0.219	1.830	12.08	-1.01	-0.399	-1.178	7.139	0.088	0.0105425088211	.	.	8.329e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs759085686	2.737e-06	2.736e-06	0	5.503e-06	4.643e-05	6.4e-07	4.3e-07	1.584e-05	9.3e-06	0	0	0	0	0	0	0	0	4.643e-05	6.59e-06	6.572e-06	1.288e-05	0	2.423e-05	0	0	.	.	2.423e-05	0	0	0	0	0	0	0	0	0	0.127	0.27080	T	0.115	0.36630	T	0.933	0.52105	P	0.386	0.44011	B	0.012698	0.29088	N	0.347044	0.99999	0.08975	N	1.6	0.40776	L	1.51	0.30937	T	-1.47	0.35991	N	0.165	0.17416	-1.0216	0.23195	T	0.037	0.15943	T	10	0.07001817	0.10129	T	0.010543	0.27195	T	0.088	0.25558	0.442	0.49811	0.180583059064	0.17676	0.7862139440922992	0.78573	0.00523147958414	0.00463	0.382173538208	0.22564	T	0.001218	0.00709	T	-0.387567	0.02789	T	-0.612961	0.11746	T	0.312164783477783	0.25503	T	.	.	.	0.0941607	0.22132	0.10972279	0.26447	0.0941607	0.22132	0.10972279	0.26446	-5.735	0.44004	T	.	.	0.384	0.58640	A	.	.	-0.197316	0.03103	0.492	0.97910099946511597	0.36808	0.24640	0.22456	N	AEFI	0.149792	0.27395	N	-0.753175404998671	0.14547	0.7255598	-0.832951615271267	0.13698	0.7120081	1.84675998159491E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.71	-1.01	0.09650	-1.400000	0.02610	-5.731000	0.01615	-0.186000	0.09761	0.003000	0.16062	0.000000	0.08366	0.958000	0.51230	0.0:0.3494:0.1144:0.5362	7.139	0.24723	947	0.11584	.	.	.	.	.	.	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	0.02381	1589.98	36	chr3	175755275	.	T	A	1589.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.468;DP=959;ExcessHet=0.0000;FS=0.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=1.85;SOR=0.777	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1604,0,1246	20	0	1	0
chr3	179250780	179250780	A	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_171830:exon1:c.T211G:p.L71V	.	.	429	1039	54	0	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.117	B	0.106	B	0.004	N	0.740	D	0.755	N	2.99	T	-0.966	T	0.004	T	0.214	1.602	11.31	0.942	-0.050	0.473	5.147	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5235.68	34	chr3	179250780	.	A	C	5235.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.132e+00;DP=1125;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-7.530e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1541,0,2151	18	0	3	0
chr3	179604915	179604915	A	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon1:c.A100C:p.T34P	.	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.994	D	0.925	D	0.017	N	1.000	N	2.38	M	0.88	T	-0.932	T	0.145	T	0.605	4.032	20.7	2.03	0.504	0.465	4.583	0.202	.	0.0075	0.00479233	0.0103	0.0011	0.0075	0	0.0215	0.0136	0.0184	0.0048	0.0086545	1338	154602	rs35399127	0.0092	0.0092	0.0093	0.0091	0.0415	0.0091	0.0090	0.0372	0.0355	0.0028	0.0066	0.0255	5.081e-05	0.0176	0.0415	0.0092	0.0105	0.0041	0.0080	0.0080	0.0073	0.0087	0.0099	0.0076	0.0075	0.0090	0.0088	0.0017	0.0044	0.0099	0.0234	0	0.0199	0.0408	0.0096	0.0105	0.0025	0.079	0.55530	T	0.136	0.44702	T	0.994	0.66517	D	0.925	0.65999	D	0.017428	0.27726	N	0.392684	0.999622	0.20843	N	2.74	0.80084	M	0.88	0.53731	T	-1.85	0.45769	N	0.353	0.56231	-0.9317	0.43889	T	0.145	0.46859	T	10	0.009079367	0.00205	T	.	.	.	0.202	0.48754	.	.	0.534814951121	0.53131	0.7674110700333394	0.76690	0.646346701716	0.58049	0.545248329639	0.45187	T	0.081848	0.36692	T	-0.35028	0.04709	T	-0.266534	0.48170	T	0.0529844322233862	0.06016	T	0.70273	0.32446	T	0.33476305	0.55858	0.3759712	0.62729	0.33476305	0.55858	0.3759712	0.62729	-2.545	0.10887	T	.	.	0.083	0.15160	B	.;.;.;.	.;.;.;.	3.385467	0.46848	22.4	0.99351467137641836	0.60615	0.02986	0.07840	N	ALL	0.174802	0.30195	N	0.084213362616481	0.45728	2.824432	0.0279185460009141	0.41016	2.457187	0.999999999957909	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.75	2.03	0.25714	0.473000	0.21843	0.748000	0.21214	-0.053000	0.16966	0.458000	0.26628	0.000000	0.08366	0.993000	0.69303	0.5101:0.323:0.1668:0.0	4.583	0.11663	698	0.58074	.;.;.;.	.	.	.	.	rs35399127	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1251.11	36	chr3	179604915	.	A	C	1251.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.406;DP=798;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=0.00;SOR=0.687	GT:AD:DP:GQ:PL	0/1:25,29:54:99:674,0,540	19	0	2	0
chr3	195779136	195779136	G	0	exonic	MUC4	.	.	.	.	.	440	961	82	1	38	122	0.0418744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	483.6	299	chr3	195779136	.	G	A,*	483.6	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-1.404e+00;DP=6736;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0959;MLEAC=1,1;MLEAF=0.029,0.029;MQ=49.00;MQRankSum=-4.360e+00;QD=0.83;ReadPosRankSum=-6.603e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:46,0,87:133:99:.:.:2399,2535,4351,0,1816,1552	15	0	1	4
chr3	195779151	195779151	C	0	exonic	MUC4	.	.	.	.	.	427	1007	1	0	87	88	0.000496278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	123.42	299	chr3	195779151	.	C	G,*	123.42	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=2.19;DP=6404;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=46.74;MQRankSum=-1.703e+00;QD=0.71;ReadPosRankSum=-1.954e+00;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:42,0,87:130:99:0|1:195779150_GCGTGGTGTC_G:3473,3449,7045,0,1981,1496:195779150	18	0	1	1
chr3	195779166	195779166	G	0	exonic	MUC4	.	.	.	.	.	685	574	152	54	57	317	0.184659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4306.89	387	chr3	195779166	.	G	T,*	4306.89	.	AC=2,1;AF=0.167,0.083;AN=12;BaseQRankSum=-9.300e-02;DP=7279;ExcessHet=0.0000;FS=2.157;InbreedingCoeff=0.2023;MLEAC=4,2;MLEAF=0.333,0.167;MQ=56.28;MQRankSum=-1.198e+01;QD=11.07;ReadPosRankSum=4.03;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,42,89:131:99:0|1:195779166_G_*:5089,3637,5418,1497,0,1345:195779166	4	0	1	15
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4281.86	308	chr3	195779220	.	A	C,*	4281.86	.	AC=3,1;AF=0.214,0.071;AN=14;BaseQRankSum=0.534;DP=5938;ExcessHet=0.0193;FS=0.533;InbreedingCoeff=0.1614;MLEAC=6,2;MLEAF=0.429,0.143;MQ=57.49;MQRankSum=-7.676e+00;QD=5.92;ReadPosRankSum=-3.394e+00;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,37,113:150:99:0|1:195779166_G_*:6133,4623,4633,1540,0,1213:195779166	4	0	2	14
chr3	195779228	195779228	T	0	exonic	MUC4	.	.	.	.	.	740	633	67	26	56	175	0.0859206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2707.89	298	chr3	195779228	.	T	C,*	2707.89	.	AC=2,1;AF=0.167,0.083;AN=12;BaseQRankSum=2.43;DP=5664;ExcessHet=0.0000;FS=1.088;InbreedingCoeff=0.2023;MLEAC=4,2;MLEAF=0.333,0.167;MQ=57.42;MQRankSum=-1.212e+01;QD=6.70;ReadPosRankSum=-5.159e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,35,113:148:99:0|1:195779166_G_*:6049,4623,4639,1456,0,1129:195779166	4	0	1	15
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D,	.	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.55	T	-1.006	T	0.036	T	0.079	-1.535	0.016	.	-0.833	-0.021	4.708	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.225	36608.93	193	chr3	195779399	.	GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	G,CACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	36608.93	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.51;DP=4301;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=57.38;MQRankSum=-7.921e+00;QD=16.79;ReadPosRankSum=0.561;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	159.86	193	chr3	195779400	.	A	T,*	159.86	.	AC=2,9;AF=0.071,0.321;AN=28;BaseQRankSum=-3.875e+00;DP=4316;ExcessHet=1.5306;FS=0.000;InbreedingCoeff=0.0793;MLEAC=3,12;MLEAF=0.107,0.429;MQ=58.96;MQRankSum=-1.218e+01;QD=0.07;ReadPosRankSum=3.26;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:158,0,71:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,3055,10520,0,6694,6323:195779399	5	0	2	7
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	3	2
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R,	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	B	0.007	B	.	.	1.000	N	0.55	N	1.17	T	-1.030	T	0.056	T	0.05	0.115	4.621	.	0.488	0.295	6.707	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	3	2
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2377.19	193	chr3	195779410	.	A	*,G	2377.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.77;DP=4183;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.71;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.26;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2371.19	193	chr3	195779411	.	A	*,C	2371.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.15;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.43;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205,	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24,	.	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.018	B	.	.	1.000	N	0.55	N	1.36	T	-1.020	T	0.047	T	0.061	0.033	4.183	.	0.488	-2.428	6.707	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,71,0:229:99:0|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:2434,0,6323,3055,6694,10520:195779399	13	2	4	1
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,100,129:229:99:1|0:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9570,5440,5150,3031,0,2548:195779399	13	2	3	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A	.	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	B	0.039	B	0.380	N	1.000	N	0.55	N	1.64	T	-1.044	T	0.031	T	0.04	0.334	5.814	0.613	0.522	0.338	3.482	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,100,129:229:99:1|0:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9570,5440,5150,3031,0,2548:195779399	13	2	3	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7448.07	193	chr3	195779447	.	C	G,*	7448.07	.	AC=3,8;AF=0.075,0.200;AN=40;BaseQRankSum=1.25;DP=4112;ExcessHet=0.0419;FS=0.515;InbreedingCoeff=0.3622;MLEAC=3,8;MLEAF=0.075,0.200;MQ=55.88;MQRankSum=1.93;QD=3.49;ReadPosRankSum=2.57;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,128,100:228:99:1|0:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:9579,3039,2556,5409,0,5064:195779399	12	0	2	1
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,173,106:279:99:0|1:195779805_G_A:10356,4220,3771,6337,0,7113:195779805	0	7	0	8
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,135,0:308:99:0|1:195780043_G_A:5056,0,6812,3782,7216,10721:195780043	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,135,0:312:99:0|1:195780043_G_A:5044,0,7001,3782,7404,10910:195780043	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:174,90,0:267:99:.:.:3095,0,7025,3005,7381,10878	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,81,0:257:99:.:.:1980,0,7111,1477,7438,9115	10	0	1	4
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3139.55	313	chr3	195780092	.	C	T,*	3139.55	.	AC=1,7;AF=0.042,0.292;AN=24;DP=6174;ExcessHet=0.0419;FS=4.756;InbreedingCoeff=0.0684;MLEAC=1,10;MLEAF=0.042,0.417;MQ=55.82;QD=2.32;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,135,0:311:99:.:.:5048,0,6961,3146,7509,10900	6	0	1	9
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	424.47	497	chr3	195780215	.	C	G,*	424.47	.	AC=1,5;AF=0.028,0.139;AN=36;BaseQRankSum=-2.227e+00;DP=10160;ExcessHet=0.1217;FS=18.125;InbreedingCoeff=0.1067;MLEAC=1,6;MLEAF=0.028,0.167;MQ=54.84;MQRankSum=-1.380e+00;QD=0.31;ReadPosRankSum=-1.645e+00;SOR=1.912	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,10,29:41:99:.:.:1009,586,930,440,0,7545	13	0	0	3
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,155,0:307:99:0|1:195780492_AGGGGTGGCCT_A:5691,0,5873,6148,6325,12473:195780492	3	1	5	11
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:152,0,155:307:99:0|1:195780492_AGGGGTGGCCT_A:5691,6148,12473,0,6325,5873:195780492	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,149,0:297:99:1|0:195780492_AGGGGTGGCCT_A:5649,0,5813,6100,5379,11191:195780492	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:221,0,151:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,6184,15451,0,9267,8817:195780492	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,151,0:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,0,8817,6184,9267,15451:195780492	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,151,0:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,0,8817,6184,9267,15451:195780492	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,151,0:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,0,8817,6184,9267,15451:195780492	5	4	3	8
chr3	195780530	195780623	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	570	703	20	0	229	249	0.0140252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	5271.15	349	chr3	195780530	.	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	T,*	5271.15	.	AC=1,3;AF=0.056,0.167;AN=18;BaseQRankSum=3.31;DP=7644;ExcessHet=1.8123;FS=1.101;InbreedingCoeff=0.1822;MLEAC=2,6;MLEAF=0.111,0.333;MQ=52.75;MQRankSum=-3.954e+00;QD=2.95;ReadPosRankSum=-3.480e+00;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:221,0,151:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,6184,15451,0,9267,8817:195780492	5	0	1	12
chr3	195780562	195780562	G	0	exonic	MUC4	.	.	.	.	.	634	632	242	5	9	261	0.166227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	950.16	349	chr3	195780562	.	G	*,A	950.16	.	AC=4,1;AF=0.250,0.063;AN=16;BaseQRankSum=-1.598e+00;DP=7247;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=0.0278;MLEAC=8,2;MLEAF=0.500,0.125;MQ=52.35;MQRankSum=5.43;QD=0.47;ReadPosRankSum=4.24;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,151,0:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,0,8817,6184,9267,15451:195780492	3	0	4	13
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,151,0:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,0,8817,6184,9267,15451:195780492	3	0	6	11
chr3	195780583	195780583	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10997T:p.P3666L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.002	B	.	.	1.000	N	0	N	1.57	T	-0.988	T	0.032	T	0.104	0.265	5.434	0.743	0.088	1.518	6.905	0.022	0.000701446879571	.	.	0.0024	0	0	0	0	0	0	0.0049	0.0001617	25	154602	rs767764512	0.0001	8.518e-05	7.656e-05	0.0001	0.0013	8.864e-05	8.166e-05	0.0010	0.0009	0.0001	0	0	8.872e-05	0	0.0005	3.457e-05	6.574e-05	0.0013	9.867e-05	0.0002	5.089e-05	0.0001	0.0020	3.299e-05	1.948e-05	0.0004	0.0002	0.0001	0	0	0	0	0	0	5.043e-05	0	0.0020	0.016	0.51853	D	0.187	0.28860	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.30133	T	-1.03	0.27052	N	0.107	0.09207	-0.9884	0.33002	T	0.032	0.13898	T	8	0.0077109635	0.00175	T	7.01E-4	0.00435	T	0.022	0.04323	.	.	0.0920862733494	0.08535	0.004806063485625643	0.00452	.	.	0.490108907223	0.37453	T	.	.	.	-0.321772	0.06753	T	-0.699979	0.05827	T	0.00728160681488316	0.00083	T	0.753225	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21390	B	.;.	.;.	2.001965	0.25439	16.76	0.73253195466699128	0.10261	0.00307	0.01628	N	AEFBI	0.057882	0.10819	N	-1.2268818149776	0.04613	0.2085847	-1.29709374232406	0.04470	0.2109179	1.33794269631254E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	-0.528000	0.06280	-0.833000	0.07248	0.187000	0.17834	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:221,0,151:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,6184,15451,0,9267,8817:195780492	5	0	1	13
chr3	195780583	195780583	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1811.04	349	chr3	195780583	.	G	A,*	1811.04	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=4.18;DP=7369;ExcessHet=0.9691;FS=1.814;InbreedingCoeff=0.2533;MLEAC=2,4;MLEAF=0.125,0.250;MQ=50.12;MQRankSum=5.62;QD=1.39;ReadPosRankSum=1.68;SOR=0.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:221,0,151:372:99:0|1:195780492_AGGGGTGGCCT_A:5519,6184,15451,0,9267,8817:195780492	5	0	1	13
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,154,0:280:99:0|1:195780492_AGGGGTGGCCT_A:6082,0,4823,6462,5286,11748:195780492	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,149,0:284:99:0|1:195780492_AGGGGTGGCCT_A:5652,0,5080,6059,5521,11579:195780492	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,150,0:282:99:0|1:195780492_AGGGGTGGCCT_A:5523,0,4929,5921,5364,11285:195780492	3	0	14	3
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	54979.33	431	chr3	195781220	.	T	C,*	54979.33	.	AC=9,1;AF=0.250,0.028;AN=36;BaseQRankSum=-1.386e+00;DP=9310;ExcessHet=0.2410;FS=0.000;InbreedingCoeff=0.1444;MLEAC=10,1;MLEAF=0.278,0.028;MQ=59.26;MQRankSum=4.32;QD=12.97;ReadPosRankSum=0.556;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,347,0:347:99:.:.:11253,1040,0,11276,1056,11988	10	2	5	3
chr3	195781275	195781323	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	0	exonic	MUC4	.	.	.	.	.	0	194	26	0	6	32	0.0628019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12425.48	492	chr3	195781275	.	GGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCT	G,*	12425.48	.	AC=2,3;AF=0.050,0.075;AN=40;BaseQRankSum=2.28;DP=10510;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1570;MLEAC=2,3;MLEAF=0.050,0.075;MQ=58.75;MQRankSum=-3.642e+00;QD=4.35;ReadPosRankSum=0.454;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:173,0,120:294:99:0|1:195781275_G_*:5240,5318,12277,0,6923,6423:195781275	15	0	2	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,186,0:187:99:.:.:5914,549,0,6204,568,7077	0	3	3	1
chr3	195781748	195781748	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A9832G:p.T3278A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.886	P	0.176	B	.	.	1.000	N	0	N	1.45	T	-1.029	T	0.024	T	0.066	-0.923	0.393	-2.05	-0.808	-1.357	3.577	0.009	.	.	0.0307508	0.0042	0.0703	0.0052	0	0	0	0.0045	0.0001	0.006032	157	26028	rs541419189	0.0015	0.0024	0.0016	0.0013	0.0614	0.0014	0.0014	0.0589	0.0578	0.0614	0.0015	8.508e-05	3.023e-05	0	0.0020	0.0002	0.0028	2.774e-05	0.0021	0.0089	0.0020	0.0021	0.0090	0.0019	0.0018	0.0080	0.0076	0.0090	0	0.0012	0	0	0	0	0.0002	0.0019	0	0.552	0.13003	T	0.147	0.33000	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.45	0.32482	T	-0.13	0.08971	N	0.034	0.00942	-1.0291	0.20746	T	0.024	0.10284	T	8	0.0031976998	0.00054	T	.	.	.	0.009	0.00846	.	.	0.0138822411134	0.00435	0.001344080505687809	0.00124	.	.	0.492879897356	0.37837	T	.	.	.	-0.337474	0.05565	T	-0.722534	0.04674	T	0.00936026636761931	0.00120	T	0.547645	0.18800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06663	B	.;.	.;.	0.239728	0.06198	2.651	0.17752387154549229	0.00530	0.00152	0.00917	N	AEFBI	0.055550	0.10197	N	-1.13196010183875	0.06082	0.279025	-1.32536630651263	0.04105	0.192924	4.47209026539178E-5	0.03989	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-2.05	0.06916	0.192000	0.16902	-6.333000	0.01428	0.091000	0.17597	0.002000	0.15269	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.4048:0.5952	3.577	0.07489	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	249.7	186	chr3	195781748	.	T	C	249.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.350e-01;DP=2928;ExcessHet=0.0000;FS=14.589;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=49.75;MQRankSum=-4.649e+00;QD=2.40;ReadPosRankSum=1.08;SOR=3.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,13:104:99:0|1:195781748_T_C:263,0,3782:195781748	18	0	1	2
chr3	195781751	195781751	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9829C:p.D3277H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.002	B	.	.	1.000	N	0	N	1.33	T	-1.027	T	0.033	T	0.045	-1.303	0.037	-2.05	-1.454	-0.001	2.363	0.029	.	.	0.0303514	0.0043	0.0697	0.0053	0	0	0.0001	0.0045	0.0001	0.0006404	99	154602	rs553152463	0.0013	0.0025	0.0014	0.0011	0.0533	0.0012	0.0012	0.0509	0.0500	0.0533	0.0014	4.41e-05	3.293e-05	0	0.0020	0.0001	0.0026	7.288e-05	0.0022	0.0099	0.0023	0.0022	0.0098	0.0020	0.0019	0.0087	0.0083	0.0098	0	0.0014	0	0	0	0.0079	0.0002	0.0022	0	0.062	0.38185	T	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35219	T	-0.92	0.24676	N	0.09	0.06854	-1.0274	0.21299	T	0.033	0.14203	T	8	0.0029769838	0.00048	T	.	.	.	0.029	0.06676	.	.	0.0138822411134	0.00435	0.0012307999761926357	0.00114	.	.	0.517246603966	0.41238	T	.	.	.	-0.379132	0.03155	T	-0.782374	0.02383	T	0.0090048668370308	0.00113	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35808	B	.;.	.;.	0.200861	0.05855	2.297	0.19096536874908887	0.00629	0.00262	0.01432	N	AEFBI	0.077916	0.15707	N	-1.82932703235201	0.00477	0.02054576	-1.90990811054609	0.00468	0.02072211	1.84092776329315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-2.05	0.06916	-3.213000	0.00614	-5.720000	0.01619	-1.986000	0.00458	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3978:0.3285:0.2737	2.363	0.04049	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	246.7	186	chr3	195781751	.	C	G	246.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=2926;ExcessHet=0.0000;FS=14.555;InbreedingCoeff=-0.0390;MLEAC=1;MLEAF=0.026;MQ=49.66;MQRankSum=-4.631e+00;QD=2.35;ReadPosRankSum=1.01;SOR=3.390	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,13:105:99:0|1:195781748_T_C:260,0,3824:195781748	18	0	1	2
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,9,0:79:99:0|1:195781748_T_C:167,0,2854,378,2881,3259:195781748	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,9,0:79:99:0|1:195781748_T_C:167,0,2854,378,2881,3259:195781748	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,9,0:79:99:0|1:195781748_T_C:167,0,2854,378,2881,3259:195781748	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,6,0:53:99:0|1:195781748_T_C:110,0,1955,252,1974,2225:195781748	5	0	1	2
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	3617.11	473	chr3	195782507	.	G	C,*	3617.11	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.608;DP=8469;ExcessHet=0.1022;FS=1.731;InbreedingCoeff=0.2832;MLEAC=1,8;MLEAF=0.025,0.200;MQ=55.87;MQRankSum=-1.046e+01;QD=1.40;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,141:142:99:1|1:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:5968,5338,5248,393,453,0:195782475	13	0	1	1
chr3	195782517	195782517	G	0	exonic	MUC4	.	.	.	.	.	464	935	5	4	114	127	0.00690388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	782.1	473	chr3	195782517	.	G	A,*	782.1	.	AC=1,7;AF=0.029,0.206;AN=34;BaseQRankSum=2.28;DP=8484;ExcessHet=0.0354;FS=1.107;InbreedingCoeff=0.2407;MLEAC=1,8;MLEAF=0.029,0.235;MQ=52.14;MQRankSum=-7.400e+00;QD=0.36;ReadPosRankSum=3.01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,141:142:99:1|1:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:5968,5338,5248,393,453,0:195782475	11	0	1	4
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,57,0:221:99:0|1:195783068_G_T:1837,0,6698,2331,6870,9200:195783068	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,57,0:222:99:0|1:195783068_G_T:1834,0,6740,2331,6912,9242:195783068	5	0	6	6
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	10418.23	479	chr3	195783086	.	A	*,G	10418.23	.	AC=5,7;AF=0.179,0.250;AN=28;BaseQRankSum=0.783;DP=8967;ExcessHet=1.0583;FS=3.282;InbreedingCoeff=-0.1323;MLEAC=7,9;MLEAF=0.250,0.321;MQ=57.34;MQRankSum=-1.078e+01;QD=2.74;ReadPosRankSum=-4.326e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:160,0,35:195:99:0|1:195783068_G_T:988,1470,8188,0,6718,6613:195783068	4	0	4	7
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,158,0:189:99:1|0:195783068_G_T:4372,0,828,4465,1302,5767:195783068	3	2	9	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4587.88	506	chr3	195783103	.	A	G,*	4587.88	.	AC=6,4;AF=0.300,0.200;AN=20;BaseQRankSum=4.06;DP=8924;ExcessHet=0.4906;FS=4.240;InbreedingCoeff=-0.0371;MLEAC=10,6;MLEAF=0.500,0.300;MQ=58.00;MQRankSum=-1.052e+01;QD=1.60;ReadPosRankSum=-4.436e+00;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,21,0:181:99:0|1:195783068_G_T:400,0,6655,882,6718,7600:195783068	2	1	3	11
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2897.01	506	chr3	195783105	.	C	T,*	2897.01	.	AC=6,4;AF=0.188,0.125;AN=32;BaseQRankSum=1.38;DP=7813;ExcessHet=0.3364;FS=4.620;InbreedingCoeff=0.1275;MLEAC=7,5;MLEAF=0.219,0.156;MQ=57.99;MQRankSum=-1.166e+01;QD=1.02;ReadPosRankSum=-5.051e+00;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,17,0:178:99:0|1:195783068_G_T:229,0,6709,714,6760,7474:195783068	8	1	3	5
chr3	195783106	195783106	A	0	exonic	MUC4	.	.	.	.	.	522	916	35	26	23	110	0.0453361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2727.94	506	chr3	195783106	.	A	*,G	2727.94	.	AC=4,6;AF=0.125,0.188;AN=32;BaseQRankSum=5.87;DP=7812;ExcessHet=0.3364;FS=3.688;InbreedingCoeff=0.1275;MLEAC=5,7;MLEAF=0.156,0.219;MQ=57.97;MQRankSum=-1.105e+01;QD=0.96;ReadPosRankSum=-4.100e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,16:177:99:0|1:195783068_G_T:187,672,7432,0,6760,6712:195783068	8	0	3	5
chr3	195783108	195783108	T	0	exonic	MUC4	.	.	.	.	.	516	925	32	26	23	107	0.0434333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1867.95	571	chr3	195783108	.	T	C,*	1867.95	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-2.420e-01;DP=7503;ExcessHet=0.0568;FS=11.270;InbreedingCoeff=0.1651;MLEAC=6,1;MLEAF=0.231,0.038;MQ=57.87;MQRankSum=-1.176e+01;QD=2.39;ReadPosRankSum=-3.756e+00;SOR=1.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,14,0:175:99:0|1:195783068_G_T:103,0,6718,588,6760,7348:195783068	9	0	3	8
chr3	195783263	195783263	-	GGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8316_8317insGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACC:p.T2772_N2773insDTSSASTGHATPLPVTNTSSVSTGHATPLPVT,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.522e-06	6.603e-06	3.558e-06	5.519e-06	0.0002	1.33e-06	9.6e-07	6.887e-05	4.053e-05	0.0002	0	0	0	0	0	0	2.297e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	765.16	451	chr3	195783263	.	T	TGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	765.16	.	AC=1;AF=0.028;AN=36;DP=5617;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0687;MLEAC=1;MLEAF=0.028;MQ=53.09;QD=27.81;SOR=3.258	GT:AD:DP:GQ:PL	0/1:0,16:16:80:778,0,80	17	0	1	3
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,546,0:546:99:.:.:17703,1636,0,18000,1682,20459	0	19	0	0
chr3	195785364	195785364	T	0	exonic	MUC4	.	.	.	.	.	441	974	97	0	10	107	0.0474328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	27392.49	834	chr3	195785364	.	T	C,*	27392.49	.	AC=5,1;AF=0.147,0.029;AN=34;BaseQRankSum=-9.670e-01;DP=14266;ExcessHet=1.7912;FS=2.937;InbreedingCoeff=-0.2375;MLEAC=6,1;MLEAF=0.176,0.029;MQ=57.01;MQRankSum=0.620;QD=7.11;ReadPosRankSum=-2.844e+00;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:354,91,0:447:99:.:.:2463,0,14588,3540,13182,16108	11	0	5	4
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25396.43	834	chr3	195785371	.	G	A,*	25396.43	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=1.36;DP=14123;ExcessHet=0.5418;FS=3.054;InbreedingCoeff=-0.0202;MLEAC=7,1;MLEAF=0.194,0.028;MQ=56.87;MQRankSum=0.044;QD=6.67;ReadPosRankSum=-2.969e+00;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,77,0:437:99:0|1:195785371_G_A:2053,0,14760,3136,14991,18127:195785371	11	1	5	3
chr3	195785372	195785372	G	0	exonic	MUC4	.	.	.	.	.	529	885	99	0	9	108	0.0529695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	24926.62	834	chr3	195785372	.	G	C,*	24926.62	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.029;DP=14105;ExcessHet=1.7912;FS=3.806;InbreedingCoeff=-0.2213;MLEAC=6,1;MLEAF=0.167,0.028;MQ=56.89;MQRankSum=0.150;QD=6.36;ReadPosRankSum=-3.052e+00;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,77,0:434:99:0|1:195785371_G_A:2062,0,14710,3136,14941,18077:195785371	12	0	5	3
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,347,0:416:99:.:.:9758,0,1858,9965,2897,12863	0	15	5	0
chr3	195785391	195785391	C	0	exonic	MUC4	.	.	.	.	.	459	975	85	2	1	90	0.0436488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	14855.56	802	chr3	195785391	.	C	*,G	14855.56	.	AC=1,5;AF=0.029,0.147;AN=34;BaseQRankSum=5.87;DP=13422;ExcessHet=1.8958;FS=4.251;InbreedingCoeff=-0.2308;MLEAC=1,6;MLEAF=0.029,0.176;MQ=56.41;MQRankSum=-2.403e+00;QD=4.45;ReadPosRankSum=-6.536e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:351,0,54:405:99:0|1:195785371_G_A:1207,2263,17002,0,14738,14576:195785371	11	0	1	4
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2,0:3:36:0|1:195787233_T_A:81,0,36,84,42,126:195787233	4	2	10	2
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:10,0,5:15:99:0|1:195787857_T_A:180,210,630,0,420,405:195787857	6	0	1	4
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,7,0:18:99:0|1:195787857_T_A:252,0,437,285,458,743:195787857	4	3	6	6
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:17,0,12:29:99:0|1:195787857_T_A:411,462,1146,0,684,648:195787857	4	0	1	4
chr3	195788174	195788174	-	GGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3405_3406insCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACC:p.T1135_S1136insPLPVTDTSSASTGHAT	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.555e-05	0.0009	0	0	0	0	0	0	.	.	.	rs771837975	2.281e-05	3.548e-05	2.724e-05	1.804e-05	0.0009	1.466e-05	1.244e-05	0.0005	0.0004	0.0009	0.0002	0	0	0	0	0	9.08e-05	2.878e-05	0.0006	0.0007	0.0009	0.0003	0.0030	0.0003	0.0002	0.0016	0.0012	0.0030	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,157,0,0:289:99:.:.:4244,0,4391,5153,5218,12533,5153,5218,12533,12533	12	0	1	5
chr3	195788174	195788174	A	0	exonic	MUC4	.	.	.	.	.	488	888	63	0	83	146	0.0342577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4342.47	769	chr3	195788174	.	A	AGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG,G,*	4342.47	.	AC=1,1,2;AF=0.031,0.031,0.063;AN=32;BaseQRankSum=-2.450e-01;DP=6545;ExcessHet=0.8031;FS=4.477;InbreedingCoeff=0.0186;MLEAC=1,1,2;MLEAF=0.031,0.031,0.063;MQ=56.80;MQRankSum=-7.739e+00;QD=2.23;ReadPosRankSum=-3.187e+00;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,157,0,0:289:99:.:.:4244,0,4391,5153,5218,12533,5153,5218,12533,12533	12	0	1	5
chr3	195788517	195788564	GTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3016_3063del:p.A1006_H1021del	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0015	0.0042	0.0017	0.0022	0.0042	0	0.0004	.	.	.	rs757424802	0.0008	0.0029	0.0009	0.0008	0.0030	0.0008	0.0008	0.0016	0.0012	0.0004	0.0014	0.0005	0.0016	0.0004	0.0030	0.0008	0.0007	0.0006	0.0004	0.0009	0.0004	0.0005	0.0014	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0010	0	0.0014	0	0	0.0002	0.0013	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	0/2:181,0,127:308:99:4425,5148,13536,0,7384,6808	6	0	1	12
chr3	195788516	195788564	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	0	exonic	MUC4	.	.	.	.	.	448	1065	6	0	3	9	0.00280899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5331.07	399	chr3	195788516	.	TGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGC	T,*	5331.07	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=2.15;DP=7802;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,3;MLEAF=0.111,0.167;MQ=59.18;MQRankSum=-5.023e+00;QD=4.78;ReadPosRankSum=0.456;SOR=0.693	GT:AD:DP:GQ:PL	0/2:181,0,127:308:99:4425,5148,13536,0,7384,6808	6	0	1	12
chr3	195788539	195788541	GGG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3039_3041del:p.P1014del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.009e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.099e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:181,0,127:308:99:.:.:4425,5148,13536,0,7384,6808	17	0	1	0
chr3	195788538	195788541	AGGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	58.2	384	chr3	195788538	.	AGGG	A,*	58.2	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=-1.508e+00;DP=8339;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=0.05;ReadPosRankSum=-1.431e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:181,0,127:308:99:.:.:4425,5148,13536,0,7384,6808	17	0	1	0
chr3	195788543	195788543	-	GTC	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2->GAC	nonframeshift insertion	MUC4:NM_018406:exon2:c.3036_3037insGAC:p.T1012_S1013insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.099e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.619e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:181,0,127:308:99:.:.:4425,5148,13536,0,7384,6808	3	0	1	14
chr3	195788543	195788543	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon3:c.3035+2A>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	65.42	350	chr3	195788543	.	T	TGTC,*	65.42	.	AC=1,3;AF=0.071,0.214;AN=14;BaseQRankSum=-3.210e-01;DP=7567;ExcessHet=0.6776;FS=0.531;InbreedingCoeff=-0.3548;MLEAC=2,6;MLEAF=0.143,0.429;MQ=60.00;MQRankSum=0.00;QD=0.06;ReadPosRankSum=-1.811e+00;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:181,0,127:308:99:.:.:4425,5148,13536,0,7384,6808	3	0	1	14
chr3	195867585	195867585	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2764A:p.V922M	.	.	.	.	.	.	.	.	.	.	.	251073	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.306	B	0.22	B	0.990	N	0.994	D	0.895	L	2.9	T	-0.810	T	0.231	T	0.155	1.060	9.327	4.74	1.375	0.998	10.545	0.046	.	0.0064	0.000998403	0.0067	0.0025	0.0043	0	0.0019	0.0104	0	0.0008	0.0052069	805	154602	rs148323328	0.0089	0.0088	0.0093	0.0085	0.0110	0.0088	0.0087	0.0108	0.0108	0.0016	0.0020	0.0006	0	0.0018	0.0014	0.0110	0.0055	0.0005	0.0053	0.0053	0.0060	0.0046	0.0098	0.0050	0.0049	0.0092	0.0089	0.0020	0.0121	0.0012	0.0012	0	0.0017	0	0.0098	0.0043	0.0002	0.007	0.63226	D	0.238	0.49120	T	0.141	0.30086	B	0.201	0.36881	B	0.990313	0.08035	N	0.994226	1	0.08975	N	0.69	0.16971	N	2.9	0.74477	T	-0.56	0.21215	N	0.398	0.43899	-0.8102	0.54538	T	0.231	0.59694	T	10	0.0059280396	0.00133	T	.	.	.	0.046	0.12618	.	.	0.839251179855	0.83771	0.5117350421020459	0.51095	0.00655855936216	0.00574	0.616378307343	0.55216	T	0.012358	0.37999	T	-0.43179	0.01446	T	-0.385051	0.35131	T	0.0109015442779047	0.00156	T	0.910609	0.68297	D	0.05792122	0.11589	0.061412994	0.11853	0.05792122	0.11589	0.061412994	0.11852	-4.663	0.32953	T	.	.	0.093	0.22897	B	.;.;.;.	.;.;.;.	1.216411	0.16100	12.32	0.99058566750143018	0.51436	0.04840	0.10571	N	AEFBI	0.076297	0.15345	N	-0.507055904363682	0.21852	1.162671	-0.478743039744065	0.22740	1.236635	0.981114739439646	0.30219	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.61	4.74	0.59717	0.866000	0.27608	0.453000	0.18541	-0.189000	0.09497	0.104000	0.22875	0.000000	0.08366	0.126000	0.19410	0.0:0.9108:0.0:0.0892	10.545	0.44247	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	462.98	36	chr3	195867585	.	C	T	462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=1.50;SOR=0.700	GT:AD:DP:GQ:PL	0/1:26,21:47:99:477,0,605	20	0	1	0
chr3	196207406	196207406	T	C	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon5:c.A679G:p.K227E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.007	N	0.978	N	-2.345	N	1.73	T	-0.957	T	0.010	T	0.169	-0.769	0.763	3.1	0.681	0.820	7.388	0.028	0.00465815371381	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390549744	7.093e-07	1.368e-06	1.402e-06	0	1.252e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.252e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.007000	0.31670	N	0.221905	0.978163	0.25266	N	-2.235	0.00114	N	1.73	0.26445	T	3.07	0.00131	N	0.16	0.16725	-0.9566	0.39807	T	0.010	0.03765	T	10	0.023443997	0.00613	T	0.004658	0.11566	T	0.028	0.06331	0.433	0.48336	0.0716867268079	0.06686	0.3247992672046973	0.32392	0.392499206088	0.40429	0.359470307827	0.19309	T	0.001883	0.01299	T	-0.250563	0.14027	T	-0.597693	0.13006	T	0.0474387966096401	0.05044	T	0.430157	0.11673	T	0.062239677	0.12979	0.07419979	0.16208	0.062239677	0.12978	0.07419979	0.16208	1.364	0.00094	T	.	.	0.071	0.03887	B	.	.	1.269021	0.16678	12.69	0.57628217712522767	0.05811	0.06643	0.12660	N	AEFDBHCIJ	0.080297	0.16232	N	-1.17503869544345	0.05379	0.2450901	-0.903696433502946	0.12007	0.61515	0.999999999859486	0.74766	0.72623	0.87236	0	0.475579	0.06741	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.97	3.1	0.34780	0.598000	0.23774	3.674000	0.39446	-0.379000	0.05400	0.059000	0.21734	1.000000	0.68203	0.061000	0.16044	0.0:0.8016:0.0:0.1984	7.388	0.26069	749	0.51929	.	.	.	.	.	.	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	0.02381	549.98	34	chr3	196207406	.	T	C	549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.931;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-7.270e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:24,27:51:99:564,0,477	20	0	1	0
chr4	681921	681921	T	C	exonic	MYL5	.	nonsynonymous SNV	MYL5:NM_002477:exon7:c.T449C:p.I150T	.	.	416	1078	28	0	0	28	0.0128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.004	B	0.129	U	1.000	N	1.75	L	-1.15	T	-0.765	T	0.231	T	0.262	0.927	8.777	1.42	0.096	0.923	5.271	0.178	.	0.0059	0.00479233	0.0075	0.0018	0.0021	0	0.0017	0.0093	0.0070	0.0191	0.0059766	924	154602	rs141317789	0.0093	0.0085	0.0091	0.0095	0.0173	0.0091	0.0091	0.0161	0.0156	0.0013	0.0024	0.0012	3.283e-05	0.0014	0.0056	0.0102	0.0080	0.0173	0.0058	0.0058	0.0059	0.0057	0.0137	0.0055	0.0054	0.0111	0.0101	0.0019	0.0044	0.0033	0.0009	0.0002	0.0018	0.0034	0.0096	0.0043	0.0137	0.106	0.38633	T	0.121	0.36233	T	0.004	0.12183	B	0.004	0.10090	B	0.128701	0.18721	U	0.267510	0.999874	0.19925	N	2.295	0.65404	M	-1.15	0.77964	T	-1.77	0.50012	N	0.215	0.24010	-0.7649	0.57138	T	0.231	0.59694	T	10	0.009002179	0.00204	T	.	.	.	0.178	0.44724	.	.	0.411133732114	0.40725	0.25061042175913784	0.24975	0.0390873116171	0.04159	0.476215779781	0.35536	T	0.242099	0.61076	T	-0.394905	0.02500	T	-0.327056	0.41796	T	0.0069959243115661	0.00079	T	0.673433	0.28201	T	0.08375943	0.19357	0.06451452	0.12940	0.08375943	0.19356	0.06451452	0.12940	-8.27	0.62895	D	.	.	0.122	0.37577	B	.;.;.;.	.;.;.;.	1.121668	0.15074	11.57	0.87845361960388701	0.17525	0.06850	0.12875	N	AEFDBHCIJ	0.131200	0.25005	N	-0.76872521194048	0.14130	0.7013712	-0.830459363689203	0.13758	0.7154632	0.999999199229797	0.74766	0.789315	0.99827	0	0.606735	0.50208	0	0.768056	0.98339	0	0.699875	0.68795	0	.	.	4.0	1.42	0.21524	0.010000	0.13140	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.388000	0.26514	0.0:0.1008:0.1794:0.7199	5.271	0.14937	814	0.42100	.;.;.;EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1552.11	33	chr4	681921	.	T	C	1552.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.840e-01;DP=821;ExcessHet=0.1072;FS=2.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=1.65;SOR=0.471	GT:AD:DP:GQ:PL	0/1:46,33:79:99:760,0,1193	19	0	2	0
chr4	1655460	1655460	G	A	exonic	FAM53A	.	nonsynonymous SNV	FAM53A:NM_001013622:exon4:c.C400T:p.R134W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	B	0.048	B	0.131	N	0.991	D	2.24	M	0.44	T	-1.034	T	0.118	T	0.319	0.911	8.706	1.19	-0.086	0.887	2.369	0.137	0.127120705543	7.9e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374163438	2.64e-05	3.283e-05	1.97e-05	3.33e-05	6.536e-05	1.948e-05	1.701e-05	1.884e-05	1.628e-05	6.536e-05	2.795e-05	0	0	0	0	2.685e-05	8.71e-05	0	3.941e-05	3.94e-05	5.138e-05	2.689e-05	9.647e-05	1.715e-05	1.129e-05	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	2.94e-05	0	0	0.033	0.48642	D	0.002	0.79402	D	0.35	0.33644	B	0.048	0.24975	B	0.131370	0.18625	N	0.421653	0.991435	0.41387	D	2.435	0.70606	M	0.44	0.56609	T	-5.85	0.88495	D	0.365	0.40665	-1.0336	0.19300	T	0.118	0.41538	T	9	0.18391407	0.33741	T	0.127121	0.80888	D	0.137	0.36984	.	.	0.284539287134	0.28064	0.28032314999303326	0.27945	0.0995600239955	0.11238	0.512915253639	0.40630	T	0.133739	0.46458	T	-0.11228	0.34391	T	-0.399059	0.33492	T	0.0950866694406165	0.11807	T	0.468753	0.13831	T	0.0876286	0.20412	0.10369	0.24886	0.0876286	0.20412	0.10369	0.24885	-5.717	0.43845	T	.	.	0.103	0.18539	B	.;.;.;.	.;.;.;.	0.895407	0.12690	9.213	0.97299397695589296	0.33271	0.85858	0.45040	D	AEFDBI	0.524916	0.54791	D	-0.749509924811342	0.14647	0.7313761	-0.810788023992361	0.14235	0.7427045	0.062329294305774	0.15260	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.94	1.19	0.20120	0.938000	0.28562	-0.096000	0.11999	-3.613000	0.00071	0.999000	0.42656	0.000000	0.08366	0.000000	0.00833	0.1697:0.1491:0.5275:0.1537	2.369	0.04062	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	990.98	57	chr4	1655460	.	G	A	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=1213;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=-6.860e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:54,38:92:99:1005,0,1345	20	0	1	0
chr4	2129194	2129194	T	C	exonic	POLN	.	nonsynonymous SNV	POLN:NM_181808:exon18:c.A1852G:p.T618A,	.	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.987	D	0.715	P	0.003	N	0.805	D	1.81	L	-4.14	D	0.702	D	0.846	D	0.417	1.149	9.678	3.45	0.717	2.736	8.451	0.582	0.0491420649085	0.0007	.	0.0005	0.0004	0.0006	0	0	0.0007	0.0011	0.0002	0.0005045	78	154602	rs150570640	0.0009	0.0009	0.0009	0.0008	0.0014	0.0008	0.0008	0.0010	0.0009	0.0002	0.0005	0.0012	0	7.495e-05	0.0014	0.0010	0.0011	0.0003	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0003	0.0012	0	0	0	0.0009	0	0	0.126	0.27194	T	0.018	0.59732	D	0.082	0.24665	B	0.105	0.31087	B	0.003458	0.34930	N	0.266517	0.804641	0.34557	D	1.835	0.48228	L	-4.14	0.96772	D	-2.69	0.57435	D	0.391	0.43320	0.702	0.93195	D	0.846	0.94850	D	10	0.14179578	0.26939	T	0.049142	0.63685	D	0.582	0.83193	.	.	0.878594844158	0.87740	0.3809208872523269	0.38007	0.361251029565	0.37780	0.331634283066	0.15181	T	0.315472	0.68708	T	-0.133025	0.31008	T	-0.0366622	0.67926	D	0.0441607442788288	0.04450	T	0.760024	0.38453	T	0.47060472	0.65327	0.43482643	0.66989	0.47060472	0.65327	0.43482643	0.66989	-6.297	0.48698	T	.	.	0.097	0.15966	B	.;.	.;.	3.089495	0.41597	21.4	0.95360912203456516	0.26758	0.81620	0.40987	D	AEFI	0.338352	0.43585	N	0.0425245702060478	0.43798	2.665864	0.0817568729796907	0.43632	2.660933	8.20106826295543E-4	0.07857	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.67	3.45	0.38602	2.886000	0.48276	2.701000	0.34161	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.451000	0.27917	0.0:0.0:0.1981:0.8019	8.451	0.32032	791	0.46100	DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain;DNA-directed DNA polymerase, family A, palm domain|DNA-directed DNA polymerase, family A, palm domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	476.98	34	chr4	2129194	.	T	C	476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=0.230;SOR=0.728	GT:AD:DP:GQ:PL	0/1:38,22:60:99:491,0,853	20	0	1	0
chr4	2693858	2693858	C	T	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001256666:exon14:c.C2203T:p.P735S	.	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.999	D	0.859	P	0.000	D	1.000	D	1.59	L	-0.49	T	-0.506	T	0.327	T	0.522	3.825	19.43	5.59	2.619	4.225	16.740	0.198	0.0678277264793	0.0008	0.000798722	0.0013	0.0002	0.0016	0.0001	0	0.0018	0.0057	0.0006	0.0012031	186	154602	rs139214890	0.0011	0.0011	0.0010	0.0011	0.0208	0.0010	0.0010	0.0178	0.0166	0.0006	0.0019	0.0005	7.559e-05	0.0003	0.0208	0.0010	0.0019	0.0007	0.0013	0.0013	0.0012	0.0013	0.0018	0.0011	0.0011	0.0015	0.0014	0.0004	0	0.0017	0.0009	0	0.0008	0.0306	0.0018	0.0024	0.0008	0.049	0.49117	D	0.205	0.35205	T	0.999	0.77913	D	0.859	0.61184	P	0.000116	0.50451	D	0.135564	0.999867	0.50061	D	2.42	0.70002	M	-0.49	0.70365	T	-1.58	0.50830	N	0.59	0.63204	-0.5063	0.68421	T	0.327	0.69495	T	10	0.018695384	0.00409	T	0.067828	0.70279	D	0.198	0.48105	.	.	0.198222871337	0.19423	0.3136851748176364	0.31281	0.688528760148	0.60443	0.617394924164	0.55361	T	0.018791	0.23537	T	-0.279349	0.10735	T	-0.180826	0.56447	T	0.0403142075760497	0.03747	T	0.928807	0.80429	D	0.06190003	0.12868	0.10532623	0.25316	0.06190003	0.12868	0.10532623	0.25315	-7.022	0.54724	T	.	.	0.134	0.33063	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.217311	0.63767	24.6	0.99918345789017771	0.98586	0.89684	0.50307	D	AEFDBHCI	0.482098	0.52311	N	0.550391955460599	0.70105	5.453044	0.570903561061429	0.72864	5.877395	0.99999709983949	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	4.316000	0.58970	5.917000	0.51107	0.594000	0.32500	0.999000	0.42656	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	16.740	0.85318	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	0.02381	1137.98	34	chr4	2693858	.	C	T	1137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=776;ExcessHet=0.0000;FS=3.093;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=0.862;SOR=1.064	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1152,0,1094	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,12,6,0,0:18:99:.:.:605,627,666,627,666,666,210,234,234,215,423,453,453,0,457,627,666,666,234,453,666,627,666,666,234,453,666,666	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,12,6,0,0:18:99:.:.:605,627,666,627,666,666,210,234,234,215,423,453,453,0,457,627,666,666,234,453,666,627,666,666,234,453,666,666	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,12,6,0,0:18:99:.:.:605,627,666,627,666,666,210,234,234,215,423,453,453,0,457,627,666,666,234,453,666,627,666,666,234,453,666,666	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,12,6,0,0:18:99:.:.:605,627,666,627,666,666,210,234,234,215,423,453,453,0,457,627,666,666,234,453,666,627,666,666,234,453,666,666	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,12,6,0,0:18:99:.:.:605,627,666,627,666,666,210,234,234,215,423,453,453,0,457,627,666,666,234,453,666,627,666,666,234,453,666,666	3	1	1	0
chr4	3430742	3430742	A	T	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_198227:exon15:c.A1957T:p.T653S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.007	B	0.163	N	1.000	N	0.55	N	1.72	T	-1.031	T	0.037	T	0.052	0.316	5.714	-7.16	-1.860	-0.266	6.140	0.021	0.0113003704937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.08813	T	0.934	0.03685	T	0.005	0.12996	B	0.005	0.11217	B	0.163333	0.03056	N	1.693160	1	0.08975	N	-0.205	0.04094	N	1.7	0.33189	T	0.02	0.08340	N	0.112	0.09914	-1.0311	0.20099	T	0.037	0.15813	T	10	0.03320551	0.01491	T	0.011	0.28784	T	0.021	0.04004	0.106	0.01810	0.181679512989	0.17746	0.10274242439557484	0.10204	0.160620575462	0.18125	0.446763634682	0.31502	T	0.020442	0.16093	T	-0.361833	0.04027	T	-0.757524	0.03202	T	0.0432695322914033	0.04288	T	0.424758	0.11367	T	0.03126138	0.02934	0.02145941	0.00196	0.03126138	0.02933	0.02145941	0.00196	-2.382	0.05024	T	.	.	0.069	0.06617	B	.;.;.;.	.;.;.;.	-0.430160	0.02102	0.198	0.62006987010516457	0.06853	0.02359	0.06724	N	AEFDBI	0.097285	0.19624	N	-1.49274623438003	0.01901	0.08340659	-1.61371898052021	0.01574	0.07136447	0.999640243170653	0.41316	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.58	-7.16	0.01364	-0.542000	0.06180	-2.265000	0.03977	0.740000	0.86194	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2081:0.1027:0.5868:0.1024	6.140	0.19471	830	0.39242	.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	582.98	34	chr4	3430742	.	A	T	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.618;DP=765;ExcessHet=0.0000;FS=1.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=1.26;SOR=0.806	GT:AD:DP:GQ:PL	0/1:29,24:53:99:597,0,725	20	0	1	0
chr4	3444042	3444057	CCCTGGATCCCTGTGC	-	exonic	HGFAC	.	frameshift deletion	HGFAC:NM_001297439:exon5:c.479_494del:p.L161Pfs*81	.	.	395	1072	55	0	0	55	0.0250114	.	.	2822368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0037	0.0003	0.0019	0	0.0038	0.0038	0.0096	0.0094	0.0005379	14	26028	rs562047823	0.0024	0.0026	0.0020	0.0028	0.0232	0.0023	0.0023	0.0200	0.0187	0.0003	0.0024	0.0083	5.055e-05	0.0039	0.0232	0.0016	0.0042	0.0086	0.0023	0.0023	0.0020	0.0026	0.0081	0.0021	0.0021	0.0061	0.0054	0.0003	0	0.0046	0.0066	0	0.0042	0.0238	0.0022	0.0038	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	479.94	27	chr4	3444041	.	GCCCTGGATCCCTGTGC	G	479.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.611;DP=667;ExcessHet=0.0000;FS=5.946;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.14;ReadPosRankSum=-8.440e-01;SOR=1.942	GT:AD:DP:GQ:PL	0/1:15,13:28:99:494,0,591	20	0	1	0
chr4	3449399	3449399	C	T	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001528:exon14:c.C1948T:p.R650W	.	.	367	1154	1	0	0	1	0.000433088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.93	D	0.150	N	1.000	N	0.205	N	-2.49	D	-0.382	T	0.559	D	0.319	2.577	14.58	2.01	0.990	0.485	5.057	0.291	0.121636242201	.	.	1.804e-05	0	0	0	0	3.178e-05	0	0	1.94e-05	3	154602	rs577434025	1.913e-05	2.257e-05	2.238e-05	1.579e-05	0.0002	1.31e-05	1.123e-05	1.122e-05	9.04e-06	6.283e-05	0	0	2.683e-05	0	0.0002	1.755e-05	3.448e-05	2.494e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.411e-05	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.929	0.66466	D	0.149986	0.18000	N	0.411149	1	0.08975	N	1.995	0.54099	M	-2.52	0.89363	D	-1.91	0.44471	N	0.312	0.35408	-0.3818	0.72595	T	0.559	0.83924	D	10	0.36144453	0.52764	T	0.121636	0.80244	D	0.291	0.61040	0.431	0.48007	0.883169510536	0.88202	0.6087004624561252	0.60802	0.284174339516	0.30844	0.395103514194	0.24386	T	0.252221	0.62257	T	-0.0584449	0.43150	T	-0.199184	0.54724	T	0.54727840423584	0.34375	D	0.632437	0.24680	T	0.095194824	0.22398	0.10236728	0.24533	0.095194824	0.22398	0.10236728	0.24533	-6.302	0.48738	T	.	.	0.144	0.31658	B	.;.	.;.	3.979676	0.58499	24.0	0.9964594220349875	0.76943	0.01194	0.04265	N	AEFDBI	0.466015	0.51384	N	-0.458687355735767	0.23447	1.259152	-0.615938302427897	0.19084	1.022342	0.173922126948433	0.17776	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	3.91	2.01	0.25568	0.632000	0.24273	0.274000	0.16691	-0.203000	0.08628	0.315000	0.25459	0.983000	0.30585	0.015000	0.10482	0.0:0.6675:0.214:0.1185	5.057	0.13878	873	0.30802	.;.	.	.	.	.	.	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	0.02381	1049.98	34	chr4	3449399	.	C	T	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.297;DP=877;ExcessHet=0.0000;FS=3.316;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.20;ReadPosRankSum=-1.520e+00;SOR=0.507	GT:AD:DP:GQ:PL	0/1:79,49:128:99:1064,0,1865	20	0	1	0
chr4	3767694	3767694	C	A	exonic	ADRA2C	.	nonsynonymous SNV	ADRA2C:NM_000683:exon1:c.C1088A:p.A363E,	.	.	12	1508	2	0	0	2	0.000662691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.452	B	0.23	B	.	.	1.000	N	1.065	L	1.18	T	-1.053	T	0.059	T	0.202	2.163	13.19	2.38	1.696	2.741	7.956	0.036	0.0320237160473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1026515425	1.036e-05	1.163e-05	1.236e-05	8.34e-06	1.356e-05	6.22e-06	4.94e-06	8.14e-06	6.45e-06	0	0	0	0	0	0	1.356e-05	0	0	1.975e-05	1.97e-05	2.573e-05	1.348e-05	4.416e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.416e-05	0	0	0.077	0.34095	T	0.318	0.19246	T	0.452	0.36118	B	0.23	0.38212	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	1.18	0.37746	T	-0.99	0.26200	N	0.21	0.23380	-1.0527	0.13655	T	0.059	0.24908	T	9	0.16465777	0.30798	T	0.032024	0.53962	D	0.036	0.09122	0.445	0.50302	0.602697383572	0.59952	0.5848415117808583	0.58414	.	.	0.92745256424	0.98837	D	0.036881	0.24268	T	-0.181843	0.23461	T	-0.498981	0.22455	T	0.262099281807264	0.23406	T	0.625537	0.24174	T	0.34386763	0.56585	0.29112843	0.55137	0.34386763	0.56585	0.29112843	0.55136	-5.399	0.40910	T	.	.	0.201	0.42506	B	.	.	2.902407	0.38477	20.7	0.9784575037721579	0.36358	0.29060	0.23721	N	AEFDBHCIJ	0.077411	0.15597	N	-0.168854409628834	0.34436	1.965475	-0.0926082926701887	0.35695	2.068154	0.999951991292813	0.48110	0.789315	0.99827	0	0.596491	0.49125	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	3.35	2.38	0.28415	1.495000	0.35236	4.712000	0.44461	0.498000	0.22619	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4728:0.5272:0.0:0.0	7.956	0.29202	982	0.03397	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2350.98	33	chr4	3767694	.	C	A	2350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.786e+00;DP=850;ExcessHet=0.0000;FS=3.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=-8.230e-01;SOR=0.425	GT:AD:DP:GQ:PL	0/1:52,87:139:99:2365,0,1337	20	0	1	0
chr4	6080291	6080291	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001306134:exon6:c.G628A:p.A210T	.	.	434	1077	10	1	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.228	B	0.085	B	0.012	N	0.994	N	0.895	L	1.91	T	-1.053	T	0.046	T	0.219	0.611	7.292	3.59	0.998	0.819	5.203	0.027	0.00722571738236	7.7e-05	0.000199681	0.0005	0	0.0002	0	0	9.025e-05	0	0.0031	0.0004075	63	154602	rs138699844	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	8.947e-05	0	2.519e-05	0	0.0019	3.507e-05	0.0002	0.0029	0.0001	0.0001	8.991e-05	0.0001	0.0015	7.085e-05	5.742e-05	0.0007	0.0005	0	0	0	0	0	0	0.0102	0.0001	0	0.0015	0.092	0.31987	T	0.325	0.36101	T	0.004	0.30509	B	0.015	0.29395	B	0.011833	0.29386	N	0.287918	0.994168	0.23574	N	0	0.06538	N	1.91	0.31470	T	-0.77	0.25332	N	0.159	0.21710	-1.0534	0.13466	T	0.046	0.19640	T	10	0.008037627	0.00182	T	0.007226	0.19171	T	0.027	0.05988	.	.	0.261638197198	0.25763	0.1321002317582474	0.13135	0.630853255338	0.57057	0.455531328917	0.32700	T	0.037801	0.24608	T	-0.540661	0.00332	T	-0.554014	0.16943	T	0.0181557738384515	0.00537	T	0.727427	0.34191	T	0.03467473	0.03937	0.054701712	0.09458	0.03467473	0.03936	0.054701712	0.09457	-3.421	0.17153	T	0.11350665606208556	0.09941	0.079	0.07083	B	.;.;.;.;.	.;.;.;.;.	2.226791	0.28424	17.79	0.97744274823842625	0.35702	0.75837	0.37153	D	AEFBI	0.221552	0.34617	N	-0.553831344486567	0.20364	1.072944	-0.504843009408668	0.22021	1.19406	0.0115834230930867	0.12207	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.44	3.59	0.40253	0.636000	0.24333	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.6223:0.1866:0.1911	5.203	0.14601	988	0.01987	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	35	chr4	6080291	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=778;ExcessHet=0.0000;FS=4.246;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=0.109;SOR=1.216	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1085,0,1164	20	0	1	0
chr4	6300948	6300948	G	A	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.G1153A:p.E385K	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	1507	14	1	0	16	0.00528053	.	.	173964	WFS1-related_disorder|Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_specified|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	.|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.96	D	0.403	B	0.000	D	1.000	D	1.59	L	-3.02	D	0.467	D	0.692	D	0.721	4.464	23.8	4.84	2.240	9.067	16.940	0.769	0.565146094024	0.0007	0.000399361	0.0014	9.61e-05	0.0007	0	0.0033	0.0017	0.0011	0.0013	0.0011643	180	154602	rs71524353	0.0007	0.0007	0.0007	0.0007	0.0028	0.0007	0.0007	0.0017	0.0014	8.962e-05	0.0009	0.0053	0	0.0028	0.0028	0.0005	0.0012	0.0013	0.0008	0.0008	0.0008	0.0009	0.0009	0.0007	0.0007	0.0006	0.0005	9.631e-05	0	0.0009	0.0092	0.0002	0.0025	0	0.0007	0.0019	0.0002	0.077	0.34095	T	0.01	0.65728	D	0.96	0.55278	D	0.403	0.44588	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	-3.02	0.92258	D	-1.87	0.43717	N	0.838	0.83371	0.467	0.90083	D	0.692	0.89360	D	10	0.056906283	0.06453	T	0.565146	0.96046	D	0.769	0.92212	.	.	0.994968230274	0.99491	0.9385606399102261	0.93837	.	.	0.60305249691	0.53335	T	0.314574	0.68624	T	-0.00549336	0.50895	T	0.173781	0.81633	D	0.0855371755511185	0.10679	T	0.969903	0.89155	D	0.31824198	0.54491	0.2654629	0.52379	0.31824198	0.54491	0.2654629	0.52378	-3.653	0.18627	T	0.7691234597975248	0.85027	0.866	0.80659	P	.;.	.;.	4.047326	0.59964	24.2	0.99918686388327771	0.98586	0.98879	0.88076	D	AEFBI	0.942720	0.94765	D	0.540693790863653	0.69516	5.368209	0.583132595327909	0.73729	6.018697	0.99999999944049	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	9.341000	0.96446	8.570000	0.77602	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.940	0.86085	970	0.06235	.;.	.	.	.	.	.	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	1	0	0.02381	3150.98	213	chr4	6300948	.	G	A	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.67;DP=4708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-5.190e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:114,112:226:99:3165,0,2832	20	0	1	0
chr4	6598201	6598201	C	A	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon9:c.C1099A:p.Q367K	.	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	3.9	H	-2.3	D	0.927	D	0.848	D	0.876	3.403	17.49	3.98	2.219	4.410	13.184	0.814	0.0318218013203	0.0032	0.000399361	0.0022	0.0006	0.0006	0	0	0.0034	0.0033	0.0014	0.002238	346	154602	rs73209757	0.0026	0.0026	0.0026	0.0026	0.0099	0.0025	0.0025	0.0078	0.0071	0.0004	0.0006	0.0273	0	0	0.0099	0.0023	0.0041	0.0015	0.0027	0.0027	0.0030	0.0024	0.0029	0.0025	0.0024	0.0025	0.0024	0.0005	0.0724	0.0003	0.0277	0	0	0.0136	0.0029	0.0057	0.0027	0.0	0.91255	D	0.013	0.63918	D	0.997	0.90584	D	0.97	0.78936	D	0.000002	0.62929	D	0.059654	0.999996	0.58761	D	4.36	0.98503	H	-2.3	0.87671	D	-3.56	0.68880	D	0.645	0.67736	0.927	0.96065	D	0.848	0.94933	D	10	0.020321548	0.00466	T	0.031822	0.53806	D	0.814	0.94008	.	.	0.966712483379	0.96635	0.8988753416490367	0.89859	0.636032066748	0.57400	0.630196332932	0.57173	T	0.661523	0.89849	D	0.0911385	0.63317	D	0.355087	0.90515	D	0.161712482138268	0.17997	T	0.794321	0.43637	T	0.9814844	0.99221	0.94754326	0.98249	0.9814844	0.99221	0.94754326	0.98250	-15.757	0.97375	D	.	.	0.806	0.77589	P	.;.	.;.	4.303993	0.65734	24.9	0.99468662534823149	0.66207	0.85630	0.44783	D	AEFDGBCI	0.596530	0.59067	D	0.766031118815598	0.83945	8.152115	0.616605386185802	0.76146	6.437414	0.999980532570158	0.51787	0.706548	0.73137	0	0.577304	0.33150	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.86	3.98	0.45383	4.711000	0.61570	6.655000	0.56228	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.16:0.8399:0.0:0.0	13.184	0.59096	970	0.06235	Glycoside hydrolase family 38, central domain|Glycoside hydrolase family 38, central domain;Glycoside hydrolase family 38, central domain|Glycoside hydrolase family 38, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	33	chr4	6598201	.	C	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.812e+00;DP=752;ExcessHet=0.0000;FS=1.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-4.550e-01;SOR=0.484	GT:AD:DP:GQ:PL	0/1:32,36:68:99:804,0,826	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	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	.;.	.	.	.	.	.	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	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:85,30:115:99:139,0,1970	0	0	21	0
chr4	8233514	8233514	G	A	splicing	SH3TC1	NM_018986:exon14:c.3282+1G>A;NM_001318480:exon14:c.3054+1G>A	.	.	.	.	425	1070	26	1	0	28	0.0129151	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.602	18.34	3.49	1.846	8.802	15.367	.	.	0.0044	0.00239617	0.0057	0.0009	0.0057	0	0.0011	0.0066	0.0048	0.0107	0.0052005	804	154602	rs62286463	0.0060	0.0060	0.0059	0.0061	0.0153	0.0059	0.0059	0.0126	0.0116	0.0014	0.0043	0.0150	0	0.0014	0.0153	0.0059	0.0078	0.0108	0.0040	0.0040	0.0041	0.0039	0.0108	0.0037	0.0036	0.0084	0.0076	0.0008	0.0143	0.0031	0.0121	0	0.0008	0.0136	0.0059	0.0057	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0158123	0.49447	T	0.212472	0.83792	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.165318	0.86564	28.9	0.99380838904050006	0.61891	0.98041	0.79102	D	AEFGBCI	.	.	.	1.0172895395832	0.96252	14.47503	0.801970913417976	0.89929	10.18212	0.999999999999901	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.060301	0.00762	0	0.195515	0.04268	0	0.887185	0.55460	3.49	3.49	0.39065	9.134000	0.93746	7.080000	0.57469	0.629000	0.51854	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	15.367	0.74244	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1241.98	39	chr4	8233514	.	G	A	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.263e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.914;SOR=0.687	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1256,0,1072	20	0	1	0
chr4	8291466	8291466	G	A	exonic	HTRA3	.	nonsynonymous SNV	HTRA3:NM_001297559:exon4:c.G805A:p.V269M	.	.	408	1098	16	0	0	16	0.00723327	.	.	2822419	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	U	1.000	D	2.34	M	-2.64	D	0.721	D	0.780	D	0.283	4.161	21.5	4.19	1.911	7.303	16.549	0.731	.	0.0099	0.00439297	0.0082	0.0012	0.0032	0	0.0066	0.0130	0.0135	0.0019	0.0085833	1327	154602	rs111620813	0.0100	0.0100	0.0101	0.0100	0.0106	0.0099	0.0098	0.0105	0.0104	0.0014	0.0057	0.0481	0	0.0083	0.0090	0.0106	0.0111	0.0014	0.0083	0.0083	0.0084	0.0082	0.0112	0.0079	0.0077	0.0105	0.0102	0.0015	0.0241	0.0088	0.0490	0	0.0078	0.0068	0.0112	0.0104	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.99	0.78936	D	0.000001	0.84330	U	0.000000	1	0.81001	D	2.36	0.67893	M	-2.64	0.90147	D	-2.73	0.58085	D	0.84	0.83678	0.721	0.93432	D	0.780	0.92512	D	10	0.017561316	0.00376	T	.	.	.	0.731	0.90589	.	.	0.941047437047	0.94043	0.740400631892179	0.73985	0.858628955192	0.68869	0.88312792778	0.94378	D	0.720854	0.92110	D	-0.219818	0.18017	T	-0.078142	0.65041	T	0.0263363693481378	0.01451	T	0.880212	0.59782	D	0.772048	0.82171	0.6876555	0.81628	0.772048	0.82172	0.6876555	0.81629	-10.308	0.79532	D	.	.	0.849	0.82593	P	.;.	.;.	4.707669	0.75589	26.4	0.99896376243441309	0.96895	0.97326	0.74046	D	AEFDBI	0.925113	0.90416	D	0.628621912607215	0.74992	6.227842	0.543227703696764	0.70928	5.577823	0.99999999521474	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.19	4.19	0.48645	9.302000	0.95261	8.349000	0.77009	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0:0.0:1.0:0.0	16.549	0.84312	988	0.01987	.;.	.	.	.	.	.	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	0.04762	1975.11	34	chr4	8291466	.	G	A	1975.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.42;DP=835;ExcessHet=0.1072;FS=1.186;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.177e+00;SOR=0.803	GT:AD:DP:GQ:PL	0/1:40,38:78:99:903,0,968	19	0	2	0
chr4	46041205	46041205	A	G	exonic	GABRG1	.	nonsynonymous SNV	GABRG1:NM_173536:exon9:c.T1181C:p.I394T,	.	.	416	1098	8	0	0	8	0.00362976	.	.	2301097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.129	B	0.071	B	0.013	N	1.000	N	0.55	N	-1.75	D	-0.843	T	0.299	T	0.15	-1.267	0.046	4.28	0.899	1.672	7.902	0.134	0.0391511694492	0.0005	0.000199681	0.0006	9.8e-05	0.0004	0	0	0.0010	0.0011	0	0.0001035	16	154602	rs149632298	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	2.992e-05	0.0005	0.0087	0	0	0.0017	0.0003	0.0010	5.798e-05	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0004	0.0003	0.0001	0	0.0007	0.0095	0	0	0.0034	0.0004	0.0014	0	0.474	0.08384	T	0.488	0.11621	T	0.129	0.27048	B	0.071	0.27960	B	0.012528	0.29142	N	0.399125	1	0.08975	N	1.245	0.31408	L	-1.75	0.83495	D	-0.1	0.08495	N	0.075	0.04913	-0.8426	0.52473	T	0.299	0.67036	T	10	0.0060000718	0.00135	T	0.039151	0.58640	D	0.134	0.36365	.	.	0.701312467069	0.69872	0.3620877995437546	0.36122	0.163159783007	0.18410	0.443791747093	0.31094	T	0.012746	0.11148	T	-0.336539	0.05632	T	-0.36261	0.37750	T	0.0368895156013577	0.03137	T	0.773323	0.40460	T	0.06268956	0.13121	0.07037647	0.14946	0.06268956	0.13120	0.07037647	0.14945	-4.126	0.25672	T	.	.	0.149	0.32851	B	.	.	1.434764	0.18534	13.79	0.28744069994211219	0.01491	0.06429	0.12434	N	AEI	0.097066	0.19584	N	-0.776771555542693	0.13917	0.6891687	-0.739253547129441	0.15986	0.8435446	1.78531025203102E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.46	4.28	0.50183	1.606000	0.36437	7.743000	0.68032	0.691000	0.84096	0.002000	0.15269	1.000000	0.68203	0.037000	0.13953	0.8407:0.0:0.1593:0.0	7.902	0.28902	693	0.58582	.	.	.	.	.	.	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	0.04762	1270.11	35	chr4	46041205	.	A	G	1270.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.170;DP=802;ExcessHet=0.1072;FS=1.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-1.173e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/1:27,29:56:99:733,0,663	19	0	2	0
chr4	52017250	52017250	G	A	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon2:c.C364T:p.H122Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.031	B	0.052	B	0.695	N	1.000	N	1.015	L	0.36	T	-1.013	T	0.096	T	0.061	-0.754	0.805	1.81	0.019	0.024	4.957	0.081	0.0208903117602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868418571	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	2.236e-05	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.13925	T	0.325	0.18846	T	0.031	0.20130	B	0.052	0.25551	B	0.694682	0.06167	N	1.175850	1	0.08975	N	2.825	0.82220	M	0.36	0.57880	T	-1.69	0.40274	N	0.176	0.18920	-1.0129	0.26007	T	0.096	0.36159	T	10	0.07040846	0.10239	T	0.02089	0.43570	T	0.081	0.23632	0.384	0.40298	0.0806252709748	0.07271	0.2604314277811286	0.25956	0.0275862687904	0.02819	0.232048809528	0.02123	T	0.010797	0.09711	T	-0.30676	0.08037	T	-0.59555	0.13189	T	0.0883232787418227	0.11016	T	0.439156	0.12095	T	0.03570449	0.04255	0.049820412	0.07692	0.03570449	0.04254	0.049820412	0.07692	-4.445	0.30162	T	.	.	0.080	0.07602	B	.	.	0.272827	0.06504	2.983	0.59036084375043485	0.06130	0.07258	0.13282	N	AEFBI	0.078255	0.15784	N	-1.02451844222113	0.08097	0.3784695	-1.01171264354645	0.09527	0.4744973	0.140787562507384	0.17269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.52698	0.09003	0	.	.	5.54	1.81	0.24139	0.047000	0.13941	0.594000	0.19852	0.676000	0.76740	0.000000	0.06391	0.024000	0.20971	0.121000	0.19209	0.3102:0.0:0.5552:0.1346	4.957	0.13397	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1927.98	33	chr4	52017250	.	G	A	1927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.943;DP=822;ExcessHet=0.0000;FS=2.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-7.170e-01;SOR=0.519	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1942,0,1844	20	0	1	0
chr4	52038237	52038239	GCC	-	exonic	SGCB	.	nonframeshift deletion	SGCB:NM_000232:exon1:c.21_23del:p.A9del,	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive	.	446	1068	7	1	0	9	0.0041958	.	.	966831	not_specified|Primary_dilated_cardiomyopathy	MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0143	0	0	0	.	0.0225	0.1429	0.0117	3.84e-05	1	26028	rs768838951	0.0004	0.0029	0.0003	0.0005	0.0034	0.0004	0.0004	0.0029	0.0027	0.0004	0.0029	0.0011	0.0002	0.0012	0.0010	0.0002	0.0005	0.0034	0	3.947e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	39.99	23	chr4	52038236	.	AGCC	A	39.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=381;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.215;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,401	20	0	1	0
chr4	53481842	53481842	G	A	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon6:c.C1075T:p.R359C	.	.	421	1051	49	1	0	51	0.0236879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.539	P	0.105	B	0.000	D	1.000	D	1.875	L	1.66	T	-1.104	T	0.058	T	0.279	0.971	8.964	3.19	0.668	3.416	7.047	0.096	.	0.0015	0.00439297	0.0049	0.0003	0.0023	0.0002	0	0.0024	0.0024	0.0285	0.004269	660	154602	rs116172001	0.0028	0.0028	0.0021	0.0036	0.0251	0.0027	0.0027	0.0242	0.0238	0.0003	0.0015	0.0059	0.0001	0.0002	0.0143	0.0013	0.0037	0.0251	0.0019	0.0019	0.0016	0.0022	0.0257	0.0017	0.0016	0.0220	0.0206	0.0002	0	0.0008	0.0069	0.0006	0.0002	0.0102	0.0015	0.0033	0.0257	0.046	0.46910	D	0.104	0.39954	T	0.539	0.37887	P	0.105	0.31087	B	0.000295	0.46274	D	0.225845	1	0.81001	D	1.63	0.41750	L	1.66	0.27486	T	-4.73	0.80767	D	0.432	0.47115	-1.1036	0.03683	T	0.058	0.24204	T	10	0.01123631	0.00246	T	.	.	.	0.096	0.27654	.	.	0.546217525997	0.54276	0.4752584774970142	0.47444	0.423205552803	0.42792	0.447529733181	0.31607	T	0.228087	0.59354	T	-0.49627	0.00600	T	-0.46738	0.25800	T	0.0415929108249104	0.03980	T	0.90031	0.65351	D	0.19297038	0.40988	0.16346437	0.37918	0.19297038	0.40987	0.16346437	0.37918	-12.214	0.85878	D	.	.	0.105	0.19357	B	.;.	.;.	3.751756	0.53785	23.4	0.98007074674155337	0.37521	0.89332	0.49733	D	AEFDBI	0.394525	0.47175	N	-0.222784782840169	0.32199	1.813438	-0.192843332856844	0.31798	1.802972	0.99824575610858	0.36633	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	4.91	3.19	0.35720	2.918000	0.48526	4.018000	0.41224	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.1514:0.1406:0.708:0.0	7.047	0.24227	418	0.81602	.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1187.11	28	chr4	53481842	.	G	A	1187.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.957;DP=729;ExcessHet=0.1072;FS=2.819;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.483;SOR=0.445	GT:AD:DP:GQ:PL	0/1:14,24:38:99:567,0,250	19	0	2	0
chr4	57110341	57110341	G	C	exonic	IGFBP7	.	nonsynonymous SNV	IGFBP7:NM_001253835:exon1:c.C11G:p.P4R	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.207	B	0.135	B	0.420	N	0.935	N	0	N	1.17	T	-1.031	T	0.052	T	0.155	1.479	10.89	3.14	1.760	0.225	9.729	0.045	0.331772312011	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896347160	9.77e-06	1.094e-05	9.584e-06	9.963e-06	3.752e-05	5.21e-06	4.12e-06	5.92e-06	4.33e-06	0	0	0	3.752e-05	0	0	1.103e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	0.207	0.29891	B	0.135	0.33210	B	0.420302	0.12879	N	0.633028	0.934887	0.26958	N	0	0.06538	N	1.17	0.37910	T	-1.21	0.30762	N	0.093	0.08506	-1.0310	0.20131	T	0.052	0.21921	T	10	0.097117364	0.17469	T	0.331772	0.91771	D	0.045	0.12272	0.25	0.18757	0.265929055128	0.26215	0.6513117474938714	0.65067	0.448149957111	0.44654	0.812288403511	0.83843	D	0.024864	0.18706	T	-0.498102	0.00586	T	-0.56497	0.15912	T	0.0735557552729562	0.09141	T	0.471453	0.13989	T	0.18977407	0.40533	0.1740872	0.39779	0.18977407	0.40533	0.1740872	0.39778	-3.641	0.18452	T	.	.	0.063	0.01534	B	.;.	.;.	2.331096	0.29859	18.26	0.97204134685139687	0.32824	0.08232	0.14188	N	AEFDBHCIJ	0.276644	0.39134	N	-0.645046212690911	0.17604	0.9073113	-0.599036373857066	0.19518	1.047541	0.999999820446656	0.74766	0.56387	0.32371	0	0.475579	0.06741	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.01	3.14	0.35196	-0.257000	0.08765	2.553000	0.33274	0.497000	0.22564	0.000000	0.06391	0.283000	0.24120	0.331000	0.25224	0.1066:0.0:0.8934:0.0	9.729	0.39516	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	383.56	10	chr4	57110341	.	G	C	383.56	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.733;DP=380;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8906;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.19;ReadPosRankSum=0.066;SOR=0.804	GT:AD:DP:GQ:PL	1/1:2,17:19:8:405,8,0	20	1	0	0
chr4	78887246	78887246	A	G	exonic	BMP2K	.	nonsynonymous SNV	BMP2K:NM_198892:exon15:c.A2024G:p.E675G,	.	.	429	1077	15	1	0	17	0.00783049	.	.	2367501	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.998	D	0.82	P	0.003	N	1.000	D	1.52	L	2.26	T	-1.132	T	0.072	T	0.474	3.589	18.28	5.79	2.223	6.128	16.144	0.205	0.0245590713657	0.0007	0.000199681	0.0012	0	0.0002	0	0	0.0018	0.0029	0.0017	0.0008538	132	154602	rs200263125	0.0006	0.0006	0.0005	0.0007	0.0068	0.0006	0.0006	0.0051	0.0045	2.99e-05	0.0009	0.0023	2.527e-05	0	0.0068	0.0005	0.0012	0.0013	0.0008	0.0008	0.0007	0.0010	0.0033	0.0007	0.0007	0.0026	0.0023	7.217e-05	0	0.0033	0.0023	0	0	0	0.0008	0.0014	0.0015	0.024	0.47745	D	0.125	0.35330	T	0.998	0.73220	D	0.82	0.59072	P	0.002806	0.35900	N	0.235974	0.999898	0.81001	D	1.1	0.28011	L	2.26	0.17596	T	-2.54	0.55025	D	0.363	0.40465	-1.1317	0.01703	T	0.072	0.29323	T	10	0.021440357	0.00513	T	0.024559	0.47547	T	0.205	0.49236	.	.	0.301789629655	0.29801	0.22425452088601844	0.22340	0.0933479579245	0.10547	0.49670124054	0.38368	T	0.092704	0.39060	T	-0.406056	0.02112	T	-0.396581	0.33782	T	0.0695041567087173	0.08581	T	0.632437	0.24680	T	0.19723512	0.41580	0.28775573	0.54789	0.19723512	0.41580	0.28775573	0.54788	-7.551	0.57968	D	.	.	0.161	0.35519	B	.	.	3.805334	0.54855	23.5	0.99666813080586869	0.78330	0.98762	0.86525	D	AEFBI	0.612027	0.60026	D	0.533700047762684	0.69097	5.308727	0.572181772952192	0.72952	5.891761	0.999999958919782	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	6.162000	0.71691	8.070000	0.76436	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.144	0.81367	551	0.72115	.	.	.	.	.	.	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	0.02381	1315.98	33	chr4	78887246	.	A	G	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.640e-01;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-1.840e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1330,0,1419	20	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8813.52	57	chr4	87615398	.	T	C,*	8813.52	.	AC=13,3;AF=0.310,0.071;AN=42;BaseQRankSum=-1.140e-01;DP=1014;ExcessHet=1.5101;FS=0.523;InbreedingCoeff=-0.0096;MLEAC=13,3;MLEAF=0.310,0.071;MQ=59.94;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-8.740e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:18,19,0:37:99:492,0,683,546,740,1286	8	3	7	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,34:34:99:.:.:1434,1434,1434,104,104,0	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,34:34:99:.:.:1434,1434,1434,104,104,0	0	2	2	0
chr4	87615936	87615936	A	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	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,3,0:23:66:0|1:87615911_A_C:66,0,831,126,840,966:87615911	0	3	4	9
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,6,0:24:75:0|1:87615911_A_C:75,0,744,129,756,885:87615911	0	3	5	9
chr4	87615962	87615962	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	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,4,0:21:76:0|1:87615911_A_C:76,0,704,127,714,841:87615911	1	4	4	8
chr4	87615971	87615971	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	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,2,0:21:27:0|1:87615911_A_C:27,0,730,84,736,820:87615911	0	3	5	9
chr4	89953411	89953411	G	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.G3680T:p.R1227L	.	.	435	1079	8	0	0	8	0.00369344	.	.	2820033	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	0.999	D	1.735	L	-2.05	D	0.400	D	0.633	D	0.789	3.194	16.69	5.14	2.763	6.293	17.651	0.704	.	0.0048	0.00459265	0.0034	0.0092	0.0048	0	0.0002	0.0036	0.0108	0.0006	0.0033893	524	154602	rs147451161	0.0023	0.0024	0.0023	0.0023	0.0182	0.0023	0.0022	0.0154	0.0143	0.0066	0.0065	0.0270	0	0.0002	0.0182	0.0015	0.0066	0.0005	0.0048	0.0048	0.0048	0.0048	0.0092	0.0045	0.0044	0.0080	0.0075	0.0075	0	0.0092	0.0302	0	0.0002	0.0204	0.0021	0.0090	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000010	0.62929	D	0.000000	0.977947	0.46733	D	1.5	0.37844	L	-2.05	0.85799	D	-3.89	0.73579	D	0.704	0.87265	0.400	0.89097	D	0.633	0.87131	D	10	0.010451436	0.00232	T	.	.	.	0.704	0.89376	.	.	0.928513143006	0.92778	0.723997401901554	0.72343	0.0867948037447	0.09792	0.685833334923	0.65106	T	0.437702	0.78363	T	-0.0756161	0.40425	T	0.124297	0.78519	D	0.0235939277011258	0.01094	T	0.89481	0.64041	D	0.52166826	0.68355	0.4430225	0.67533	0.52166826	0.68356	0.4430225	0.67533	-6.173	0.47704	T	.	.	0.890	0.84549	P	.;.;.	.;.;.	4.504053	0.70476	25.5	0.99760481233316733	0.85011	0.98264	0.81063	D	AEFDBI	0.819297	0.74035	D	0.611869349107216	0.73923	6.046213	0.555673810495086	0.71794	5.709302	0.98018772161836	0.30108	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	6.367000	0.73038	10.909000	0.84175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.651	0.88066	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	812.98	34	chr4	89953411	.	G	T	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.066;DP=761;ExcessHet=0.0000;FS=1.110;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-1.190e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/1:23,32:55:99:827,0,572	20	0	1	0
chr4	93224750	93224750	G	A	exonic	GRID2	.	nonsynonymous SNV	GRID2:NM_001286838:exon6:c.G815A:p.R272H	Spinocerebellar ataxia, autosomal recessive 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3081725	Autosomal_recessive_spinocerebellar_ataxia_18	MONDO:MONDO:0014530,MedGen:C4015505,OMIM:616204,Orphanet:363432	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.998	D	0.89	P	0.002	N	0.946	D	0.55	N	-1.71	D	-0.154	T	0.517	D	0.46	2.861	15.53	5.53	2.596	3.378	19.489	0.359	0.0793314892116	.	.	4.979e-05	0	0	0	0	3.017e-05	0	0.0002	4.53e-05	7	154602	rs575224950	9.107e-05	9.303e-05	8.313e-05	9.909e-05	0.0003	7.831e-05	7.312e-05	0.0002	0.0002	2.992e-05	2.242e-05	0	0	0	0.0002	9.272e-05	6.631e-05	0.0003	5.919e-05	7.221e-05	9.007e-05	2.691e-05	0.0002	3.08e-05	2.212e-05	4.767e-05	3.34e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.287	0.33091	T	0.129	0.35582	T	0.984	0.60733	D	0.621	0.51426	P	0.001684	0.38271	N	0.208640	0.94577	0.37501	D	0.55	0.14455	N	-1.71	0.83157	D	-0.68	0.56144	N	0.366	0.42834	-0.1536	0.78827	T	0.517	0.81932	D	10	0.20381647	0.36550	T	0.079331	0.73209	D	0.359	0.67962	0.504	0.59770	0.762629469593	0.76046	0.3884049074127909	0.38755	0.299294864135	0.32296	0.617617249489	0.55392	T	0.164234	0.50961	T	-0.162522	0.26374	T	-0.175036	0.56981	T	0.144015564036604	0.16616	T	0.965803	0.87368	D	0.20078054	0.42065	0.13366981	0.32047	0.20078054	0.42065	0.13366981	0.32047	-6.998	0.58792	T	0.14192313816769106	0.16008	0.118	0.26357	B	.;.;.;.	.;.;.;.	3.864215	0.56056	23.7	0.99857909279775448	0.93639	0.71018	0.34834	D	AEFI	0.273811	0.38914	N	0.225479262513881	0.52437	3.417823	0.273229292387004	0.53981	3.564667	0.93478684228662	0.27186	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	2.885000	0.48269	11.883000	0.98886	0.676000	0.76740	0.165000	0.23867	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.489	0.95036	887	0.27948	Receptor, ligand binding region;.;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	578.98	37	chr4	93224750	.	G	A	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.030;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-6.360e-01;SOR=0.533	GT:AD:DP:GQ:PL	0/1:19,24:43:99:593,0,432	20	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P,	.	.	259	1180	76	7	0	90	0.0367347	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.685	H	-6.13	D	0.850	D	0.988	D	0.493	3.384	17.42	3.17	0.785	3.345	8.906	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	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	0.04762	3913.11	37	chr4	95841007	.	G	C	3913.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.71;DP=973;ExcessHet=0.1072;FS=18.240;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.588;SOR=1.439	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1728,0,1862	19	0	2	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:90,44:134:99:112,0,1499	2	0	18	1
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.988	D	0.000	D	1.000	D	3.525	H	3.41	T	0.511	D	0.660	D	0.889	3.815	19.37	5.65	2.824	7.496	19.084	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	534.79	173	chr4	101196011	.	C	G	534.79	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.373e+00;DP=2716;ExcessHet=1.1607;FS=204.564;InbreedingCoeff=-0.4002;MLEAC=9;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.07;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,20:153:23:0|1:101196011_C_G:23,0,5126:101196011	2	0	5	14
chr4	109999721	109999721	C	A	exonic	EGF	.	nonsynonymous SNV	EGF:NM_001357021:exon18:c.C2679A:p.D893E	Hypomagnesemia 4, renal	.	.	.	.	.	.	.	.	.	.	2119501	not_provided|EGF-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.886	P	0.449	P	0.000	N	0.999	D	1.905	M	2.81	T	-1.125	T	0.032	T	0.15	2.832	15.43	3.12	0.524	0.962	5.868	0.112	0.00398943144332	.	0.000599042	0.0003	0	0	0	0	1.498e-05	0	0.0021	0.0002652	41	154602	rs564898318	0.0001	0.0001	6.125e-05	0.0002	0.0017	9.603e-05	9.082e-05	0.0015	0.0014	0	0	0	5.038e-05	0	0	3.597e-06	9.934e-05	0.0017	5.914e-05	5.906e-05	3.857e-05	8.063e-05	0.0015	3.077e-05	2.21e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.941e-05	0	0.0015	0.04	0.42487	D	0.004	0.92824	D	0.886	0.48745	P	0.449	0.46066	P	0.000000	0.84330	N	0.048442	0.999032	0.45921	D	1.78	0.46185	L	2.81	0.10975	T	-2.5	0.54382	D	0.142	0.14196	-1.1252	0.02026	T	0.032	0.13854	T	10	0.016393512	0.00345	T	0.003989	0.09462	T	0.112	0.31546	0.553	0.66995	0.682504492806	0.67979	0.9294380043589731	0.92921	0.301124267467	0.32458	0.371694982052	0.21075	T	0.653294	0.89506	D	-0.571362	0.00217	T	-0.599665	0.12839	T	0.121959302554955	0.14620	T	0.761424	0.38756	T	0.5810959	0.71668	0.24258804	0.49683	0.5810959	0.71669	0.24258804	0.49682	-10.761	0.78331	D	.	.	0.465	0.62960	A	.;.;.	.;.;.	1.654739	0.21106	15.05	0.99073967876220703	0.51786	0.45557	0.27565	N	AEFBCI	0.100585	0.20221	N	-0.100432955930145	0.37373	2.173456	-0.170975860288847	0.32610	1.856978	0.965591990491341	0.28842	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	4.93	3.12	0.34986	0.830000	0.27115	0.718000	0.20989	0.599000	0.40250	0.366000	0.25891	0.167000	0.23311	0.994000	0.71098	0.2187:0.6828:0.0:0.0985	5.868	0.18037	881	0.29269	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	34	chr4	109999721	.	C	A	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=757;ExcessHet=0.0000;FS=0.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=6.000e-03;SOR=0.811	GT:AD:DP:GQ:PL	0/1:39,32:71:99:813,0,1025	20	0	1	0
chr4	121813268	121813268	A	G	exonic	EXOSC9	.	nonsynonymous SNV	EXOSC9:NM_001034194:exon9:c.A862G:p.I288V	.	.	.	.	.	.	.	.	.	.	.	1360153	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.000	N	0.999	D	1.155	L	1.87	T	-1.067	T	0.042	T	0.073	2.061	12.85	4.72	1.057	2.789	5.880	0.042	0.00576734358985	0.0003	0.000199681	0.0001	0	0	0	0	0.0002	0	6.057e-05	0.00011	17	154602	rs34457380	9.51e-05	9.508e-05	8.033e-05	0.0001	0.0002	8.203e-05	7.718e-05	9.613e-05	8.96e-05	5.975e-05	2.236e-05	0	7.564e-05	0	0.0002	0.0001	6.625e-05	3.479e-05	0.0001	0.0001	0.0002	9.396e-05	0.0002	8.658e-05	7.251e-05	0.0002	0.0001	2.405e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0	0.239	0.29420	T	0.595	0.08419	T	0.0	0.02946	B	0.0	0.04355	B	0.000147	0.49130	N	0.258364	0.999001	0.45857	D	0.975	0.24501	L	1.87	0.25018	T	-0.37	0.13226	N	0.22	0.24634	-1.0673	0.10017	T	0.042	0.17910	T	10	0.05305022	0.05434	T	0.005767	0.14982	T	0.042	0.11227	.	.	0.173771789658	0.16945	0.19315542129959842	0.19233	0.0549176576499	0.06084	0.342042416334	0.16744	T	0.012731	0.11141	T	-0.485094	0.00691	T	-0.649867	0.08963	T	0.0886996622977503	0.11062	T	0.823718	0.48487	T	0.07847878	0.17874	0.06680852	0.13738	0.07847878	0.17874	0.06680852	0.13737	-3.227	0.12813	T	0.11029195706250744	0.09305	0.061	0.02200	B	.;.;.	.;.;.	2.395845	0.30777	18.54	0.98832433358636629	0.46985	0.82022	0.41316	D	AEFBCI	0.255146	0.37432	N	-0.212169926200213	0.32634	1.842535	-0.0228684581405713	0.38683	2.282644	0.999240855674848	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	4.72	0.59248	2.788000	0.47495	7.096000	0.57520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.7172:0.1408:0.142:0.0	5.880	0.18095	824	0.40336	.;.;.	.	.	.	.	.	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	0.02381	896.98	33	chr4	121813268	.	A	G	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=796;ExcessHet=0.0000;FS=0.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.026e+00;SOR=0.843	GT:AD:DP:GQ:PL	0/1:38,33:71:99:911,0,968	20	0	1	0
chr4	138223241	138223241	T	C	exonic	SLC7A11	.	nonsynonymous SNV	SLC7A11:NM_014331:exon4:c.A604G:p.I202V,	.	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.418	B	0.304	B	0.000	D	1.000	D	1.225	L	-2.68	D	0.041	D	0.481	T	0.478	3.184	16.66	5.57	2.117	5.316	15.726	0.406	.	0.0080	0.00439297	0.0089	0.0014	0.0055	0	0.0070	0.0131	0.0088	0.0042	0.0086804	1342	154602	rs111500641	0.0097	0.0097	0.0096	0.0098	0.0114	0.0096	0.0095	0.0102	0.0102	0.0010	0.0061	0.0345	2.52e-05	0.0065	0.0114	0.0104	0.0104	0.0042	0.0078	0.0078	0.0082	0.0074	0.0109	0.0074	0.0073	0.0102	0.0100	0.0017	0	0.0081	0.0383	0	0.0062	0.0238	0.0109	0.0099	0.0048	0.002	0.72154	D	0.006	0.70582	D	0.418	0.35279	B	0.304	0.41178	B	0.000004	0.62929	D	0.078407	0.999564	0.47592	D	1.21	0.30464	L	-2.68	0.90391	D	-0.97	0.25770	N	0.802	0.79792	0.041	0.83065	D	0.481	0.80175	T	10	0.010551393	0.00234	T	.	.	.	0.406	0.71869	.	.	0.687896883233	0.68522	0.5049593626412712	0.50417	0.281763093226	0.30648	0.63954025507	0.58498	T	0.454831	0.79422	T	-0.189567	0.22322	T	-0.0346882	0.68056	D	0.0264413687447743	0.01466	T	0.884712	0.60854	D	0.3489142	0.56982	0.28546408	0.54549	0.3489142	0.56982	0.28546408	0.54548	-4.733	0.33801	T	.	.	0.125	0.26482	B	.	.	3.174172	0.43060	21.7	0.99684746465731477	0.79507	0.92448	0.55735	D	AEFDBCIJ	0.650362	0.62450	D	0.223736691890772	0.52351	3.409849	0.353894292728746	0.58743	4.04672	0.999999999991661	0.74766	0.730579	0.87903	0	0.708844	0.79440	0	0.459711	0.06710	0	0.648885	0.59868	0	.	.	5.57	5.57	0.84021	6.696000	0.74423	7.671000	0.64778	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.726	0.77519	954	0.10045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	940.98	35	chr4	138223241	.	T	C	940.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-7.170e-01;SOR=0.743	GT:AD:DP:GQ:PL	0/1:32,39:71:99:955,0,720	20	0	1	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,64,0:64:99:2871,193,0,2871,193,2871	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,64,0:64:99:2871,193,0,2871,193,2871	0	20	0	0
chr4	140389226	140389226	A	C	exonic	CLGN	.	stoploss	CLGN:NM_004362:exon15:c.T1831G:p.X611E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.458	14.18	5.22	2.089	7.692	15.390	.	.	.	.	8.281e-06	0	0	0	0	1.505e-05	0	0	3.84e-05	1	26028	rs746754021	2.056e-06	2.052e-06	2.728e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.66e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0792294	0.39841	T	-0.351584	0.39022	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.058065	0.26169	17.02	0.81511834985883636	0.13722	0.99586	0.97719	D	AEFI	.	.	.	0.98929881636542	0.95405	13.58921	0.793887925018119	0.89363	9.944962	0.999981855595218	0.51787	0.162113	0.03585	0	0.195528	0.04277	0	0.175069	0.04249	0	0.101684	0.03063	0	0.94286	0.60513	5.22	5.22	0.72285	7.656000	0.82725	11.169000	0.87908	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	1.0:0.0:0.0:0.0	15.390	0.74458	449	0.79428	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	380.98	33	chr4	140389226	.	A	C	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.550e-01;DP=709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.78;ReadPosRankSum=0.448;SOR=0.681	GT:AD:DP:GQ:PL	0/1:29,20:49:99:395,0,694	20	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,24:73:99:0|1:140563137_C_G:288,0,1425:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,24:73:99:0|1:140563137_C_G:288,0,1425:140563137	1	0	20	0
chr4	143697457	143697457	G	-	exonic	FREM3	.	frameshift deletion	FREM3:NM_001168235:exon1:c.3219delC:p.F1073Lfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.166e-06	2.052e-06	1.425e-06	2.927e-06	0.0002	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.727e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1751.94	90	chr4	143697456	.	CG	C	1751.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.72;DP=1943;ExcessHet=0.0000;FS=10.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=-3.027e+00;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,57:112:99:0|1:143697456_CG_C:1766,0,1707:143697456	20	0	1	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,55,57:112:99:1|0:143697456_CG_C:3866,2005,1766,1688,0,1707:143697456	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,30,0,0,0:31:49:1235,49,0,1238,90,1280,1238,90,1280,1280,1238,90,1280,1280,1280	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,30,0,0,0:31:49:1235,49,0,1238,90,1280,1238,90,1280,1280,1238,90,1280,1280,1280	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	1/1:1,30,0,0,0:31:49:1235,49,0,1238,90,1280,1238,90,1280,1280,1238,90,1280,1280,1280	0	10	4	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,11:60:99:0|1:176711629_G_C:120,0,1806:176711629	12	0	9	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,11:61:99:0|1:176711629_G_C:117,0,1828:176711629	6	0	11	4
chr4	186258152	186258152	C	G	exonic	KLKB1	.	nonsynonymous SNV	KLKB1:NM_000892:exon15:c.C1857G:p.D619E	Fletcher factor (prekallikrein) deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.977	D	0.798	P	0.000	D	1.000	D	0.78	N	-3.36	D	-0.907	T	0.170	T	0.574	3.945	20.2	4.56	1.500	3.848	13.998	0.030	0.0290297429403	0.0002	.	3.304e-05	0	0	0	0	6.006e-05	0	0	3.88e-05	6	154602	rs145347307	5.336e-05	5.336e-05	4.356e-05	6.325e-05	0.0007	4.344e-05	4.017e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	5.935e-05	9.935e-05	1.159e-05	5.257e-05	5.254e-05	5.14e-05	5.381e-05	0.0003	2.557e-05	1.83e-05	8.883e-05	5.39e-05	0	0	0.0003	0	0	0	0	5.879e-05	0	0	0.086	0.32610	T	0.041	0.50514	D	.	.	.	.	.	.	0.000008	0.62929	D	0.065936	0.999957	0.81001	D	.	.	.	-3.36	0.94067	D	-2.65	0.56787	D	0.161	0.16864	-0.9073	0.47180	T	0.170	0.51133	T	10	0.44959038	0.58614	T	0.02903	0.51609	D	0.739	0.90939	0.525	0.62967	0.92718707363	0.92644	0.6797947361212279	0.67918	0.243512233698	0.26853	0.386242538691	0.23139	T	.	.	.	0.0490678	0.58224	T	0.0130021	0.71176	D	0.397827118635178	0.28860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.44822	B	.	.	2.957299	0.39368	20.9	0.99685347370648913	0.79574	0.98793	0.86927	D	AEFDBI	0.894859	0.83428	D	0.127688396272716	0.47756	2.997046	0.214207548815467	0.50635	3.253541	0.999637476241604	0.41205	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.41	4.56	0.55644	3.936000	0.56280	1.403000	0.26213	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.9278:0.0:0.0722	13.998	0.63932	617	0.66297	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3498.98	144	chr4	186258152	.	C	G	3498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=2693;ExcessHet=0.0000;FS=2.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.955e+00;SOR=0.535	GT:AD:DP:GQ:PL	0/1:114,141:255:99:3513,0,2709	20	0	1	0
chr4	186707187	186707187	G	A	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.C2641T:p.R881C,	.	.	425	1066	28	3	0	34	0.0156971	.	.	438286	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.989	D	0.606	P	0.115	N	1.000	N	2.385	M	0.56	T	-0.852	T	0.212	T	0.255	1.321	10.33	-2.2	-0.204	1.097	3.585	0.167	0.0338106689535	0.0015	0.000998403	0.0017	0.0003	0.0015	0	0	0.0018	0.0033	0.0035	0.0015847	245	154602	rs201450896	0.0015	0.0015	0.0014	0.0017	0.0097	0.0015	0.0015	0.0077	0.0069	0.0002	0.0018	0.0008	2.519e-05	0	0.0097	0.0014	0.0021	0.0044	0.0011	0.0011	0.0011	0.0012	0.0054	0.0010	0.0009	0.0038	0.0032	0.0002	0	0.0010	0.0003	0	0	0.0102	0.0015	0.0043	0.0054	0.009	0.57480	D	0.025	0.56192	D	0.989	0.62824	D	0.606	0.50970	P	0.114532	0.02670	N	1.883110	1	0.08975	N	2.23	0.63091	M	0.56	0.54540	T	-1.87	0.43717	N	0.182	0.22098	-0.8518	0.51844	T	0.212	0.57267	T	10	0.008993685	0.00203	T	0.033811	0.55241	D	0.167	0.42761	.	.	0.243972157842	0.24002	0.3319725439724967	0.33110	0.351578093821	0.36998	0.195696264505	0.00343	T	0.333072	0.70296	T	-0.454046	0.01069	T	-0.424441	0.30566	T	0.0364767739484458	0.03063	T	0.89491	0.63503	D	0.19746956	0.41612	0.12527846	0.30188	0.17900121	0.38948	0.098410204	0.23459	-6.26	0.48405	T	.	.	0.091	0.13221	B	.;.	.;.	2.316829	0.29664	18.19	0.99753863442376001	0.84460	0.19149	0.20547	N	AEFBCI	0.277295	0.39184	N	-0.389765607521063	0.25832	1.405275	-0.657358439277049	0.18031	0.9614473	0.999753829792286	0.42595	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.6	-2.2	0.06601	1.237000	0.32298	0.309000	0.17063	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1191:0.4227:0.3403:0.1179	3.585	0.07518	950	0.11238	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	5028.11	121	chr4	186707187	.	G	A	5028.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.31;DP=3134;ExcessHet=0.1072;FS=5.722;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.33;ReadPosRankSum=1.64;SOR=0.777	GT:AD:DP:GQ:PL	0/1:81,71:152:99:2041,0,2135	19	0	2	0
chr4	188139649	188139649	T	A	exonic	TRIML1	.	nonsynonymous SNV	TRIML1:NM_178556:exon1:c.T91A:p.C31S,	.	.	430	1071	19	2	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.22	H	0.57	T	0.257	D	0.428	T	0.373	4.692	26.0	5.59	2.263	7.353	14.037	0.541	.	0.0083	0.00299521	0.0072	0.0024	0.0042	0	0.0035	0.0107	0.0078	0.0035	0.0072379	1119	154602	rs62618670	0.0097	0.0097	0.0097	0.0097	0.0113	0.0096	0.0095	0.0111	0.0111	0.0020	0.0053	0.0068	5.04e-05	0.0039	0.0109	0.0113	0.0089	0.0039	0.0075	0.0075	0.0081	0.0070	0.0120	0.0072	0.0070	0.0113	0.0110	0.0019	0.0263	0.0096	0.0072	0	0.0028	0.0102	0.0120	0.0052	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.000000	0.999839	0.49637	D	4.42	0.98718	H	0.57	0.54347	T	-9.34	0.98340	D	0.952	0.96072	0.257	0.86855	D	0.428	0.77055	T	10	0.018459052	0.00402	T	.	.	.	0.541	0.80842	0.96	0.99583	0.735379351521	0.73301	0.6699191004055212	0.66929	0.283721209908	0.30810	0.642670512199	0.58944	T	0.18462	0.53733	T	-0.311884	0.07584	T	-0.211381	0.53562	T	0.121879094384851	0.14612	T	0.979302	0.92791	D	0.9858612	0.99523	0.9732791	0.99600	0.9858612	0.99523	0.9732791	0.99600	-8.917	0.67161	D	.	.	0.924	0.84533	P	.	.	4.688179	0.75090	26.3	0.99441462626623878	0.64770	0.98736	0.86194	D	AEFI	0.876536	0.80060	D	1.02061756839301	0.96344	14.58287	0.923185732623559	0.96505	14.77977	0.999213322290424	0.38775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.131000	0.76850	3.822000	0.39956	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.037	0.64172	985	0.02828	Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1290.11	33	chr4	188139649	.	T	A	1290.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.08;DP=837;ExcessHet=0.1072;FS=23.094;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=-4.700e-02;SOR=0.813	GT:AD:DP:GQ:PL	0/1:53,23:76:99:565,0,1472	19	0	2	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M,	.	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.952	P	0.4	B	0.000	D	1.000	D	.	.	1.78	T	-0.892	T	0.126	T	0.825	3.426	17.58	3.71	2.022	4.314	13.859	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	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	0.09524	305.29	14	chr4	189953101	.	C	T	305.29	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=450;ExcessHet=0.6776;FS=1.232;InbreedingCoeff=-0.1117;MLEAC=4;MLEAF=0.095;MQ=53.46;MQRankSum=-2.187e+00;QD=4.49;ReadPosRankSum=1.26;SOR=0.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:189953101_C_T:54,0,373:189953101	17	0	4	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.168	16.60	3.53	1.917	8.872	13.458	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	320.37	17	chr4	189953126	.	G	T	320.37	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.690e-01;DP=417;ExcessHet=0.6776;FS=2.758;InbreedingCoeff=-0.1133;MLEAC=4;MLEAF=0.095;MQ=52.68;MQRankSum=-2.362e+00;QD=5.09;ReadPosRankSum=1.34;SOR=0.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:189953101_C_T:57,0,352:189953101	17	0	4	0
chr4	189957422	189957422	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A457G:p.N153D,	.	.	0	1406	116	0	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.481	P	0.6	P	0.000	D	1.000	D	2.93	M	1.75	T	-0.731	T	0.247	T	0.482	3.097	16.34	2.99	0.593	9.035	8.215	0.284	.	.	.	0.0034	0.0111	0.0022	0.0049	0.0016	0.0035	0.0030	0.0014	.	.	.	rs75883191	6.849e-07	6.84e-07	1.363e-06	0	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	1.314e-05	1.313e-05	0	2.689e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.004	0.65419	D	0.07	0.57587	T	0.481	0.36761	P	0.6	0.50752	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	.	.	.	1.75	0.50459	T	-4.0	0.76900	D	0.695	0.70000	-0.7313	0.58898	T	0.247	0.61612	T	10	0.013607591	0.00288	T	.	.	.	0.284	0.60219	.	.	0.704975094451	0.70241	0.7640813165263183	0.76356	0.838637053971	0.67932	0.781378507614	0.79136	T	0.42077	0.77238	T	-0.0161202	0.49404	T	-0.260932	0.48731	T	0.0720136476709602	0.08931	T	.	.	.	0.8752744	0.89283	0.81120354	0.88976	0.8752744	0.89284	0.81120354	0.88977	-10.66	0.77761	D	.	.	0.624	0.69861	P	.;.;.	.;.;.	4.011073	0.59175	24.1	0.992698776368236	0.57525	0.98165	0.80163	D	AEDGBI	0.835604	0.75348	D	0.0948467970167196	0.46223	2.865952	0.0540996136826596	0.42270	2.553819	0.999760246770189	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	2.99	0.33673	7.501000	0.80435	10.407000	0.83325	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.9006:0.0:0.0994:0.0	8.215	0.30667	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	54.21	63	chr4	189957422	.	A	G	54.21	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.609;DP=1767;ExcessHet=0.1072;FS=3.745;InbreedingCoeff=-0.0535;MLEAC=2;MLEAF=0.048;MQ=47.97;MQRankSum=-1.120e+00;QD=0.29;ReadPosRankSum=-6.380e-01;SOR=1.022	GT:AD:DP:GQ:PL	0/1:74,11:85:54:54,0,2037	19	0	2	0
chr5	169474	169474	A	G	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon14:c.A3611G:p.H1204R,	.	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.03	B	0.02	B	.	.	0.990	N	-1.805	N	0.08	T	-0.999	T	0.027	T	0.078	-2.354	0.004	0.437	-0.341	5.201	6.780	0.218	.	0.0016	0.0091853	0.0064	0.0042	0.0008	0.0020	0	7.5e-05	0.0033	0.0426	0.0055239	854	154602	rs61750331	0.0027	0.0027	0.0015	0.0039	0.0398	0.0026	0.0026	0.0387	0.0383	0.0032	0.0007	0	0.0017	0	0.0009	8.543e-05	0.0036	0.0398	0.0025	0.0025	0.0018	0.0032	0.0421	0.0023	0.0022	0.0374	0.0355	0.0039	0	0.0004	0	0.0012	0	0	8.819e-05	0	0.0421	1.0	0.00964	T	1.0	0.01155	T	0.03	0.20002	B	0.02	0.19048	B	.	.	.	.	0.989976	0.24230	N	-2.07	0.00169	N	0.08	0.61559	T	1.37	0.00867	N	0.16	0.16725	-0.9985	0.30339	T	0.027	0.11397	T	9	0.0026985705	0.00042	T	.	.	.	0.218	0.51265	.	.	0.225902525712	0.22197	0.32225822215449323	0.32138	0.0999883255849	0.11303	0.264199435711	0.05401	T	0.040859	0.25665	T	-0.550711	0.00289	T	-0.533848	0.18904	T	0.00788626651126651	0.00093	T	0.815518	0.47040	T	0.028916806	0.02304	0.042368334	0.05031	0.028916806	0.02303	0.042368334	0.05030	-0.158	0.00410	T	.	.	0.075	0.05360	B	.;.	.;.	0.794125	0.11644	8.231	0.29920102873735588	0.01611	0.13629	0.17964	N	AEFDBHCIJ	0.045823	0.07537	N	-1.17976520588638	0.05306	0.2415864	-1.0481916977212	0.08745	0.4314519	0.999999987070736	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.41	0.437	0.15767	5.306000	0.65546	0.080000	0.14378	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.052000	0.15357	0.361:0.0:0.639:0.0	6.780	0.22827	912	0.21483	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	0	0	0	1	0	0	0	0.04762	3579.11	36	chr5	169474	.	A	G	3579.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.272e+00;DP=1005;ExcessHet=0.1072;FS=6.094;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=0.016;SOR=1.008	GT:AD:DP:GQ:PL	0/1:66,73:139:99:1646,0,1710	19	0	2	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L,	.	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	.	.	1.000	N	-0.235	N	1.96	T	-1.058	T	0.035	T	0.468	-1.931	0.008	-5.47	-2.822	-1.604	3.145	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	1920.92	353	chr5	840546	.	A	G	1920.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.560e-01;DP=2431;ExcessHet=0.6776;FS=5.180;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.12;MQRankSum=-1.789e+01;QD=1.22;ReadPosRankSum=-1.968e+00;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,33:458:36:0|1:840529_G_C:36,0,17296:840529	17	0	4	0
chr5	23526453	23526453	G	T	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.G1365T:p.E455D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.462	P	0.173	B	0.437	N	1.000	N	1.63	L	2.94	T	-0.985	T	0.020	T	0.103	0.803	8.221	0.626	0.112	-2.403	3.092	0.032	0.00069067742938	.	.	8.312e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs769758225	9.577e-06	9.577e-06	8.167e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.023	0.57104	D	0.462	0.36386	P	0.173	0.35463	B	0.437047	0.12674	N	0.646368	1	0.08975	N	1.555	0.39373	L	2.94	0.09728	T	-1.03	0.27052	N	0.126	0.11912	-0.9845	0.33951	T	0.020	0.08407	T	10	0.06980398	0.10067	T	6.91E-4	0.00418	T	0.032	0.07718	0.118	0.02577	0.260735089382	0.25697	0.014594831515937783	0.01416	0.110990978607	0.12528	0.336108922958	0.15855	T	0.03987	0.25335	T	-0.414647	0.01852	T	-0.736534	0.04038	T	0.117522902786732	0.14185	T	0.565643	0.19997	T	0.065552026	0.14020	0.054643895	0.09436	0.065552026	0.14019	0.054643895	0.09436	-3.993	0.23699	T	.	.	0.081	0.20274	B	.;.	.;.	0.437425	0.08075	4.802	0.97522652703586699	0.34411	0.00994	0.03770	N	AEFGI	0.017426	0.00456	N	-1.0214089281431	0.08160	0.3816465	-1.15077499080005	0.06754	0.3261853	0.00101898719304889	0.08126	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	2.71	0.626	0.16843	-0.999000	0.03808	0.075000	0.14313	-0.206000	0.08541	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.32:0.226:0.454:0.0	3.092	0.05917	984	0.02857	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2862.98	34	chr5	23526453	.	G	T	2862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.113e+00;DP=894;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.80;MQRankSum=0.566;QD=16.65;ReadPosRankSum=-5.770e-01;SOR=0.918	GT:AD:DP:GQ:PL	0/1:63,109:172:99:2877,0,1602	20	0	1	0
chr5	33984568	33984568	C	T	exonic	SLC45A2	.	nonsynonymous SNV	SLC45A2:NM_001012509:exon1:c.G16A:p.G6R	Albinism, oculocutaneous, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.952	P	0.438	B	0.468	N	0.729	N	0.695	N	2.23	T	-1.068	T	0.082	T	0.321	3.177	16.63	3.85	2.465	0.716	13.324	0.049	0.0199858649812	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290322631	2.743e-06	2.736e-06	2.73e-06	2.757e-06	0.0002	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.72154	D	0.007	0.74150	D	0.498	0.54136	P	0.178	0.45631	B	0.467932	0.12313	N	0.775620	0.728725	0.29851	N	2.31	0.66127	M	2.23	0.31470	T	-0.88	0.30762	N	0.262	0.33796	-1.0681	0.09836	T	0.082	0.32324	T	10	0.0977515	0.17626	T	0.019986	0.42488	T	0.049	0.13647	0.263	0.20788	0.263140351381	0.25927	0.5728708748212141	0.57215	0.0428393888348	0.04621	0.346671551466	0.17431	T	0.237133	0.60475	T	-0.190441	0.22193	T	-0.414477	0.31711	T	0.780915677547455	0.45107	D	0.805819	0.45382	T	0.14603458	0.33449	0.22626188	0.47597	0.14603458	0.33449	0.22626188	0.47596	-3.504	0.16826	T	.	.	0.101	0.17488	B	.;.;.	.;.;.	2.342601	0.30025	18.31	0.99916895899516722	0.98449	0.38261	0.25948	N	AEFDBI	.	.	.	-0.219443216607906	0.32336	1.82256	-0.212170384258014	0.31098	1.756815	0.999999990972312	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.74	3.85	0.43556	0.510000	0.22430	0.526000	0.19207	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.641000	0.32449	0.0:0.9219:0.0:0.0781	13.324	0.59887	821	0.40814	.;.;.	.	.	.	.	.	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	0.02381	2076.98	36	chr5	33984568	.	C	T	2076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.095e+00;DP=873;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.788;SOR=0.741	GT:AD:DP:GQ:PL	0/1:73,84:157:99:2091,0,1832	20	0	1	0
chr5	34925437	34925437	G	A	exonic	BRIX1	.	nonsynonymous SNV	BRIX1:NM_018321:exon10:c.G1004A:p.R335Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.716	P	0.042	B	0.001	D	0.965	D	0.6	N	0.94	T	-1.070	T	0.042	T	0.313	2.348	13.81	3.69	1.423	2.522	6.312	0.064	0.00329284717092	.	.	2.512e-05	0	0	0	0	4.574e-05	0	0	1.94e-05	3	154602	rs774372093	1.3e-05	1.368e-05	1.906e-05	6.878e-06	2.988e-05	8.32e-06	6.7e-06	8.1e-06	6.42e-06	2.988e-05	0	0	0	0	0	1.349e-05	4.969e-05	0	6.577e-06	6.569e-06	0	1.347e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.051	0.39334	T	0.226	0.25438	T	0.716	0.42206	P	0.042	0.24114	B	0.000551	0.43413	D	0.251536	0.964674	0.38421	D	0.55	0.14455	N	0.94	0.43672	T	-0.14	0.09135	N	0.167	0.17691	-1.0695	0.09523	T	0.042	0.18035	T	10	0.08402088	0.14040	T	0.003293	0.07298	T	0.064	0.18567	0.248	0.18447	0.288221626996	0.28429	0.2089216170069852	0.20808	0.26873535438	0.29393	0.370015501976	0.20833	T	0.030872	0.21780	T	-0.163172	0.26274	T	-0.456676	0.26962	T	0.182131856679916	0.19369	T	0.869013	0.57273	D	0.04728374	0.08058	0.06562688	0.13328	0.04728374	0.08058	0.06562688	0.13328	-4.502	0.30915	T	.	.	0.136	0.29670	B	.	.	2.898309	0.38406	20.7	0.99096758629382631	0.52371	0.88231	0.48067	D	AEFBI	0.162378	0.28854	N	-0.053262783424513	0.39455	2.327105	0.0822432320743241	0.43657	2.66287	0.999986279534929	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	3.69	0.41483	2.561000	0.45567	2.900000	0.35444	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3264:0.0:0.6736:0.0	6.312	0.20378	520	0.74355	.	.	.	.	.	.	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	0.02381	568.98	35	chr5	34925437	.	G	A	568.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.589;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=1.30;SOR=0.727	GT:AD:DP:GQ:PL	0/1:27,23:50:99:583,0,694	20	0	1	0
chr5	40841489	40841489	G	A	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon1:c.G107A:p.R36Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.99	D	0.688	P	0.048	N	0.995	N	1.7	L	1.97	T	-1.072	T	0.063	T	0.245	2.241	13.45	1.25	0.045	0.444	6.952	0.050	0.00566512691996	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201004616	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0002	7.08e-06	5.79e-06	8.1e-06	6.42e-06	2.987e-05	0	0	0	0	0.0002	1.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.0	0.92824	D	0.99	0.63424	D	0.688	0.53700	P	0.048399	0.23256	N	0.369280	0.998464	0.23345	N	1.81	0.47622	L	1.97	0.22067	T	-1.17	0.50666	N	0.154	0.15888	-1.0723	0.08915	T	0.063	0.26244	T	10	0.12252736	0.23245	T	0.005665	0.14651	T	0.050	0.13987	0.636	0.77251	0.326074293725	0.32213	0.08319603841490657	0.08253	0.0619690882776	0.06898	0.216292500496	0.01107	T	0.007685	0.22992	T	-0.190438	0.22193	T	-0.511327	0.21179	T	0.715730786323547	0.41483	D	0.737626	0.35895	T	0.09713716	0.22893	0.10151333	0.24303	0.09713716	0.22892	0.10151333	0.24302	-5.77	0.44312	T	.	.	0.089	0.13315	B	.;.	.;.	2.897462	0.38389	20.7	0.99143172222696763	0.53600	0.05295	0.11141	N	ALL	0.061925	0.11872	N	-0.341985303365394	0.27568	1.513544	-0.488941176288792	0.22456	1.219866	0.999999999999984	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.449817	0.06638	2	0.56214	0.19341	0	.	.	4.97	1.25	0.20475	0.759000	0.26127	0.798000	0.21632	-0.106000	0.15538	0.089000	0.22556	0.003000	0.18671	0.925000	0.46118	0.3744:0.0:0.6256:0.0	6.952	0.23732	457	0.78953	CARD domain|CARD domain|CARD domain;CARD domain|CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	34	chr5	40841489	.	G	A	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.442;DP=789;ExcessHet=0.0000;FS=2.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.766;SOR=0.428	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1064,0,960	20	0	1	0
chr5	80558606	80558606	G	A	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.C1414T:p.L472F,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.994	D	0.841	P	0.025	N	0.866	D	1.79	L	2.13	T	-1.030	T	0.102	T	0.53	3.388	17.43	6.04	2.873	2.911	14.858	0.112	0.00635229840467	.	.	8.252e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs774283355	4.036e-05	4.036e-05	3.676e-05	4.401e-05	0.0081	3.179e-05	2.911e-05	0.0063	0.0056	2.987e-05	0	0	0	0	0.0081	1.799e-06	0.0001	0	3.283e-05	3.281e-05	1.285e-05	5.372e-05	1.471e-05	1.26e-05	7.98e-06	.	.	0	0	0	0	0	0	0.0136	1.471e-05	0	0	0.266	0.16251	T	0.22	0.25907	T	0.994	0.66517	D	0.841	0.60228	P	0.024531	0.26246	N	0.238040	0.86571	0.35469	D	2.34	0.67151	M	2.13	0.19588	T	-1.04	0.27259	N	0.133	0.12913	-1.0301	0.20422	T	0.102	0.37669	T	10	0.2021918	0.36329	T	0.006352	0.16696	T	0.112	0.31546	0.367	0.37524	0.475192790171	0.47147	0.20271925325298687	0.20188	0.371636946446	0.38662	0.328638643026	0.14728	T	0.014317	0.12210	T	-0.104284	0.35714	T	-0.387573	0.34836	T	0.35474494099617	0.27203	T	0.630337	0.24523	T	0.11427177	0.26979	0.09539421	0.22623	0.11427177	0.26979	0.09539421	0.22622	-4.258	0.27584	T	.	.	0.085	0.10014	B	.	.	3.539151	0.49694	22.8	0.99850186767523719	0.92925	0.91693	0.54063	D	AEFGBI	0.638291	0.61676	D	0.623464684704167	0.74662	6.170767	0.652748349041211	0.78815	6.952933	0.520367314474093	0.21091	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.04	6.04	0.98025	2.984000	0.49043	8.612000	0.77773	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.858	0.69990	677	0.60274	.	.	.	.	.	.	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	0.02381	1340.98	35	chr5	80558606	.	G	A	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.275;DP=823;ExcessHet=0.0000;FS=1.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-2.086e+00;SOR=0.570	GT:AD:DP:GQ:PL	0/1:84,57:141:99:1355,0,2247	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	2/2:0,0,67,0:67:99:2887,2887,2887,203,203,0,2887,2887,203,2887	7	0	1	0
chr5	102498660	102498660	C	T	exonic	SLCO6A1	.	nonsynonymous SNV	SLCO6A1:NM_001289002:exon1:c.G185A:p.G62D	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.982	D	0.679	P	0.000	N	1.000	N	0.805	L	0.98	T	-1.002	T	0.093	T	0.156	2.205	13.33	-2.27	-0.552	-1.606	4.850	0.119	0.00473244710884	0.0002	0.000998403	0.0010	0	0.0002	0	0	5.994e-05	0	0.0070	0.0008215	127	154602	rs139540296	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0068	0.0066	2.987e-05	0.0001	0	7.557e-05	0	0.0012	4.317e-05	0.0003	0.0073	0.0002	0.0002	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.404e-05	0	0.0001	0	0	0	0.0068	5.88e-05	0	0.0058	0.178	0.29158	T	0.334	0.26467	T	0.94	0.60036	P	0.403	0.53442	B	0.000007	0.00162	N	7.138780	1	0.08975	N	0.805	0.20218	L	0.97	0.44856	T	-2.4	0.56630	N	0.085	0.19459	-1.0017	0.29430	T	0.093	0.35471	T	10	0.004949361	0.00106	T	0.004732	0.11784	T	0.119	0.33137	.	.	0.226586394389	0.22295	0.269533062504825	0.26866	0.281082333658	0.30582	0.273463100195	0.06597	T	0.121128	0.44386	T	-0.621164	0.00108	T	-0.660751	0.08215	T	0.0913392641420458	0.11376	T	0.59564	0.22108	T	0.088346764	0.20607	0.09878061	0.23563	0.088346764	0.20606	0.09878061	0.23562	-4.459	0.30348	T	.	.	0.225	0.60090	B	.;.;.;.	.;.;.;.	-0.695142	0.01332	0.073	0.982774921477231	0.39823	0.01833	0.05688	N	AEFBHCI	0.025238	0.01695	N	-0.855745855062781	0.11910	0.5774244	-1.06440168268425	0.08410	0.4133661	2.34430011323553E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.38	-2.27	0.06458	-2.998000	0.00718	-6.480000	0.01387	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2442:0.3875:0.3683	4.850	0.12895	238	0.90711	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4000.11	33	chr5	102498660	.	C	T	4000.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.501;DP=991;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=0.250;SOR=0.695	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1680,0,1852	19	0	2	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	0/1:58,38,0,0:96:99:817,0,1494,991,1608,2598,991,1608,2598,2598	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	0/1:32,23,0:55:99:771,0,1213,868,1282,2150	3	5	12	0
chr5	123595103	123595103	T	G	exonic	CSNK1G3	.	nonsynonymous SNV	CSNK1G3:NM_001364146:exon8:c.T812G:p.L271R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.728	P	0.201	B	0.000	D	1.000	D	1.445	L	0.66	T	-1.026	T	0.103	T	0.827	3.480	17.81	5.11	2.219	7.086	15.279	0.215	0.0302191805201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.52492	D	0.341	0.22223	T	0.146	0.42542	B	0.188	0.36881	B	0.000102	0.50451	D	0.000000	0.995227	0.81001	D	1.545	0.39105	L	0.66	0.52416	T	-1.14	0.29323	N	0.729	0.73645	-1.0259	0.21788	T	0.103	0.37994	T	10	0.5367563	0.63491	D	0.030219	0.52574	D	0.215	0.50805	0.322	0.30226	0.648104007182	0.64519	0.5893629968392997	0.58866	.	.	0.780249357224	0.78964	T	0.130459	0.45937	T	0.142405	0.68552	D	-0.0332217	0.68154	D	0.956842243671417	0.64859	D	0.941306	0.78096	D	0.38645712	0.59780	0.3586641	0.61338	0.38645712	0.59780	0.3586641	0.61338	-2.525	0.09203	T	.	.	0.388	0.67903	A	.;.	.;.	4.834908	0.78885	27.0	0.99414548698464067	0.63453	0.98132	0.79872	D	AEFBI	0.812712	0.73537	D	0.165058426640068	0.49528	3.152098	0.297419357789297	0.55389	3.70194	0.999999959185718	0.74766	0.562547	0.31514	0	0.632674	0.54651	1	0.608075	0.38828	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	7.109000	0.76703	7.611000	0.61914	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.279	0.73467	963	0.08280	Casein kinase 1 gamma C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	528.98	33	chr5	123595103	.	T	G	528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.78;ReadPosRankSum=0.571;SOR=0.716	GT:AD:DP:GQ:PL	0/1:41,27:68:99:543,0,1036	20	0	1	0
chr5	126465479	126465479	C	G	exonic	GRAMD2B	.	nonsynonymous SNV	GRAMD2B:NM_001146319:exon2:c.C182G:p.T61R	.	.	441	1076	5	0	0	5	0.00231803	.	.	3262376	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.901	P	0.369	B	0.699	N	0.999	N	.	.	1.39	T	-1.046	T	0.073	T	0.338	2.040	12.78	3.01	0.539	1.188	7.005	0.032	0.0196020830348	.	0.000199681	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	3.23e-05	5	154602	rs557678712	3.078e-05	3.078e-05	1.497e-05	4.675e-05	0.0009	2.347e-05	2.095e-05	0.0003	0.0002	0	0	0	0	0	0.0009	7.194e-06	8.279e-05	0.0003	3.94e-05	3.937e-05	1.285e-05	6.713e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.015	0.63226	D	0.162	0.31225	T	0.498	0.37115	P	0.203	0.37000	B	0.699030	0.06191	N	1.141110	1	0.21358	N	.	.	.	1.39	0.34648	T	-1.88	0.47852	N	0.255	0.39861	-1.0462	0.15476	T	0.073	0.29547	T	9	0.046890408	0.03937	T	0.019602	0.42004	T	0.068	0.19811	0.178	0.08503	0.358340041657	0.35441	0.2023668524810708	0.20153	0.300872921453	0.32440	0.318259686232	0.13156	T	0.022068	0.24663	T	-0.311869	0.07585	T	-0.369599	0.36935	T	0.105263002216816	0.12925	T	0.868313	0.57032	D	0.082647495	0.19050	0.093631946	0.22126	0.082647495	0.19050	0.093631946	0.22125	-3.41	0.16784	T	.	.	0.108	0.28319	B	.;.;.;.;.	.;.;.;.;.	2.071768	0.26345	17.09	0.98537930972416854	0.42682	0.08185	0.14146	N	AEFBI	0.144950	0.26804	N	-0.257081969121255	0.30822	1.722239	-0.299949057946765	0.28100	1.564163	0.997497828733064	0.35680	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.82	3.01	0.33872	1.205000	0.31914	3.130000	0.36437	0.599000	0.40250	0.004000	0.16614	0.609000	0.25758	0.952000	0.50033	0.0:0.7297:0.1744:0.0959	7.005	0.24009	586	0.69252	.;.;.;.;.	.	.	.	.	.	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	0.02381	752.98	35	chr5	126465479	.	C	G	752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e+00;DP=746;ExcessHet=0.0000;FS=2.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=1.65;SOR=0.494	GT:AD:DP:GQ:PL	0/1:22,31:53:99:767,0,662	20	0	1	0
chr5	128288437	128288437	C	T	splicing	FBN2	NM_001999:exon53:c.6757+1G>A	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2672326	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.638	25.4	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462192	0.93022	D	0.426131	0.92935	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.706657	0.93146	33	0.9956273049014901	0.71892	0.99610	0.97961	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:75,0,21:96:24:0|1:128288437_C_G:24,247,2858,0,2611,2554:128288437	14	0	2	1
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.514	24.3	4.86	2.698	7.609	18.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	998.3	81	chr5	128288437	.	C	T,G	998.3	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-2.166e+00;DP=1550;ExcessHet=1.7912;FS=154.586;InbreedingCoeff=-0.2036;MLEAC=2,4;MLEAF=0.050,0.100;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=1.36;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:75,0,21:96:24:0|1:128288437_C_G:24,247,2858,0,2611,2554:128288437	14	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.695	N	1.000	D	3.32	M	-5.39	D	1.101	D	0.983	D	0.927	4.525	24.4	4.86	2.698	7.609	18.546	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4583	1580.95	81	chr5	128288438	.	C	G	1580.95	.	AC=11;AF=0.458;AN=24;BaseQRankSum=-1.136e+00;DP=1745;ExcessHet=7.7275;FS=212.727;InbreedingCoeff=-0.5735;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=1.53;SOR=10.054	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,21:98:18:0|1:128288437_C_G:18,0,2586:128288437	1	0	11	9
chr5	135952907	135952907	C	T	exonic	LECT2	.	nonsynonymous SNV	LECT2:NM_002302:exon2:c.G107A:p.C36Y,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.757	P	0.000	D	1.000	D	2.005	M	3.0	T	-1.210	T	0.053	T	0.939	3.840	19.50	5.09	2.831	1.877	10.102	0.295	0.00515665484244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.58626	D	0.028	0.65728	D	0.986	0.61523	D	0.757	0.56292	P	0.000004	0.62929	D	0.143173	0.999938	0.81001	D	2.67	0.78151	M	3.0	0.09167	T	-6.17	0.93257	D	0.794	0.82157	-1.2103	0.00088	T	0.053	0.22578	T	10	0.7256754	0.73957	D	0.005157	0.13125	T	0.295	0.61502	0.591	0.71999	0.32580497728	0.32196	0.8901312305220768	0.88983	0.11555191635	0.13036	0.615881085396	0.55146	T	0.352417	0.91507	T	0.160958	0.70290	D	-0.00657096	0.69908	D	0.977872848510742	0.72052	D	0.887511	0.66112	D	0.600206	0.72702	0.5598307	0.74533	0.600206	0.72703	0.5598307	0.74534	-3.067	0.10920	T	.	.	0.842	0.80889	P	.;.;.	.;.;.	3.817536	0.55106	23.6	0.99765915540367689	0.85500	0.69868	0.34359	D	AEFBHCI	0.376967	0.46091	N	0.611331389363486	0.73890	6.040667	0.621055290248261	0.76473	6.497128	0.999996173640324	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.96	5.09	0.68647	2.105000	0.41449	3.234000	0.36926	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:0.9117:0.0:0.0883	10.102	0.41685	753	0.51500	.;.;.	.	.	.	.	.	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	0.02381	1044.98	33	chr5	135952907	.	C	T	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.330e+00;DP=776;ExcessHet=0.0000;FS=1.867;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-5.600e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1059,0,950	20	0	1	0
chr5	138352831	138352833	GCT	-	exonic	KDM3B	.	nonframeshift deletion	KDM3B:NM_016604:exon1:c.36_38del:p.L16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0	0	.	0.0049	0	0.0009	3.84e-05	1	26028	rs769886945	6.95e-05	0.0008	5.256e-05	8.711e-05	0.0006	5.723e-05	5.264e-05	0.0004	0.0003	0	0.0002	0.0001	4.004e-05	7.242e-05	0.0006	4.397e-05	4.22e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	36.94	9	chr5	138352830	.	GGCT	G	36.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.020e+00;DP=367;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=0.987;SOR=0.330	GT:AD:DP:GQ:PL	0/1:11,2:13:51:51,0,456	20	0	1	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.001	B	0.001	N	1.000	D	0.55	N	0.11	T	-1.063	T	0.090	T	0.078	1.522	11.04	3.57	0.639	1.033	2.629	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	0.1	422.21	35	chr5	138386226	.	G	A	422.21	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-5.135e+00;DP=1615;ExcessHet=0.6776;FS=178.999;InbreedingCoeff=-0.1235;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.56;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,18:117:99:0|1:138386225_T_C:120,0,3624:138386225	16	0	4	1
chr5	141100891	141100891	C	T	exonic	PCDHB3	.	nonsynonymous SNV	PCDHB3:NM_018937:exon1:c.C242T:p.T81I,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.228	B	0.236	B	.	.	0.930	N	3.92	H	0.81	T	-0.691	T	0.205	T	0.43	1.971	12.55	1.84	0.127	-0.287	9.438	0.168	0.0335709126266	0.0053	0.00199681	0.0054	0.0015	0.0038	0	0.0056	0.0083	0.0022	0.0004	0.0053686	830	154602	rs61739886	0.0063	0.0063	0.0064	0.0063	0.0073	0.0062	0.0062	0.0072	0.0071	0.0011	0.0045	0.0054	0	0.0062	0.0031	0.0073	0.0061	0.0007	0.0048	0.0048	0.0049	0.0046	0.0078	0.0045	0.0044	0.0066	0.0062	0.0022	0.0022	0.0078	0.0060	0	0.0040	0.0068	0.0063	0.0071	0.0002	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.929739	0.27088	N	.	.	.	0.81	0.48460	T	-5.28	0.84246	D	0.416	0.45615	-0.6911	0.60857	T	0.205	0.56348	T	9	0.014072478	0.00297	T	0.033571	0.55073	D	0.168	0.42943	.	.	0.358134431457	0.35428	0.5159565114036697	0.51518	.	.	0.489960610867	0.37433	T	.	.	.	-0.426837	0.01549	T	-0.380349	0.35682	T	0.120424583927138	0.14471	T	0.936406	0.76145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.59887	A	.	.	1.845851	0.23451	16.02	0.99511978831661008	0.68678	0.36613	0.25573	N	AEFBI	0.224300	0.34854	N	-0.273773664441853	0.30164	1.679415	-0.410476636156055	0.24690	1.353443	0.431710283080087	0.20377	0.493124	0.18060	0	0.573888	0.26702	0	0.694767	0.63188	0	0.564101	0.26826	0	.	.	4.7	1.84	0.24348	-0.352000	0.07750	.	.	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4097:0.4579:0.1324:0.0	9.438	0.37814	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	0	0	0	1	0	0	0	0.02381	1782.98	33	chr5	141100891	.	C	T	1782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=1561;ExcessHet=0.0000;FS=5.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-4.610e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1797,0,1740	20	0	1	0
chr5	141174729	141174729	G	T	exonic	PCDHB7	.	stopgain	PCDHB7:NM_018940:exon1:c.G1894T:p.E632X,	.	.	12	1500	10	0	0	10	0.00332226	.	.	709673	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	7.208	38	3.98	1.922	4.242	16.106	.	.	0.0061	0.00259585	0.0069	0.0020	0.0052	0.0005	0.0056	0.0103	0.0034	0.0013	0.0061319	948	154602	rs17844473	0.0073	0.0076	0.0074	0.0072	0.0085	0.0072	0.0071	0.0078	0.0077	0.0014	0.0053	0.0209	0.0003	0.0057	0.0085	0.0079	0.0083	0.0018	0.0057	0.0060	0.0059	0.0054	0.0098	0.0054	0.0052	0.0085	0.0080	0.0024	0.0022	0.0098	0.0208	0.0008	0.0038	0.0068	0.0070	0.0071	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292028	0.82322	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.932968	0.98226	39	0.99550681602039437	0.71148	0.98514	0.83591	D	AEFBI	0.098120	0.19778	N	0.919713972218835	0.92692	11.57176	0.721459277842431	0.84008	8.173929	0.999999733101605	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.98	3.98	0.45383	7.516000	0.80673	.	.	0.477000	0.22036	1.000000	0.71638	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	16.106	0.81034	655	0.62421	Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.04762	2143.11	134	chr5	141174729	.	G	T	2143.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.94;DP=2762;ExcessHet=0.1072;FS=0.600;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.43;MQRankSum=3.05;QD=5.29;ReadPosRankSum=0.014;SOR=0.622	GT:AD:DP:GQ:PL	0/1:49,33:82:99:1001,0,1326	19	0	2	0
chr5	141183583	141183583	G	C	exonic	PCDHB16	.	nonsynonymous SNV	PCDHB16:NM_020957:exon1:c.G1024C:p.D342H,	.	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	N	1.000	D	4.69	H	-0.15	T	0.542	D	0.490	T	0.925	3.345	17.26	4.47	2.025	9.792	17.150	0.633	.	0.0068	0.00259585	0.0068	0.0019	0.0052	0.0005	0.0056	0.0102	0.0033	0.0013	0.0068693	1062	154602	rs61742261	0.0076	0.0076	0.0077	0.0076	0.0083	0.0075	0.0074	0.0081	0.0081	0.0014	0.0055	0.0218	0.0003	0.0062	0.0080	0.0083	0.0086	0.0017	0.0060	0.0060	0.0062	0.0058	0.0106	0.0057	0.0055	0.0093	0.0087	0.0024	0.0022	0.0106	0.0219	0.0008	0.0041	0.0068	0.0074	0.0071	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.003051	0.35512	N	0.000000	0.999944	0.51968	D	.	.	.	.	.	.	.	.	.	0.893	0.89242	0.542	0.91127	D	0.490	0.80604	T	10	0.01623705	0.00342	T	.	.	.	.	.	.	.	0.676244962836	0.67349	0.4705533006098668	0.46974	.	.	0.486633330584	0.36972	T	.	.	.	0.163144	0.70493	D	0.468534	0.93976	D	0.090607661262689	0.11291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79055	P	.	.	4.451023	0.69188	25.3	0.9943532704229604	0.64472	0.99506	0.96851	D	AEFDBI	0.914647	0.87832	D	0.89568349599403	0.91546	10.93874	0.685616396612004	0.81285	7.491369	0.999999999917951	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.567892	0.33627	0	.	.	4.47	4.47	0.53770	9.982000	0.99168	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.0:1.0:0.0	17.150	0.86654	652	0.62785	.	.	.	.	.	.	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	0.04762	6072.11	100	chr5	141183583	.	G	C	6072.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.980;DP=1380;ExcessHet=0.1072;FS=1.090;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=1.01;SOR=0.769	GT:AD:DP:GQ:PL	0/1:90,85:175:99:2361,0,2511	19	0	2	0
chr5	141193268	141193268	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C716T:p.A239V,	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.042	B	0.033	B	.	.	0.816	N	1.305	L	4.02	T	-1.078	T	0.006	T	0.231	1.473	10.87	3.41	1.930	-0.016	9.038	0.040	.	0.0069	0.00239617	0.0068	0.0021	0.0051	0	0.0056	0.0102	0.0033	0.0012	0.0067075	1037	154602	rs61744157	0.0076	0.0076	0.0076	0.0075	0.0083	0.0075	0.0074	0.0081	0.0081	0.0014	0.0055	0.0218	2.519e-05	0.0062	0.0078	0.0083	0.0086	0.0015	0.0060	0.0060	0.0062	0.0058	0.0106	0.0057	0.0055	0.0093	0.0088	0.0025	0.0022	0.0106	0.0219	0	0.0041	0.0068	0.0074	0.0066	0.0010	0.189	0.21224	T	0.16	0.31427	T	0.042	0.21471	B	0.033	0.22329	B	.	.	.	.	0.816288	0.28939	N	1.67	0.42885	L	4.02	0.03178	T	-3.4	0.67014	D	0.38	0.42149	-1.0783	0.07681	T	0.006	0.02018	T	9	0.013487726	0.00286	T	.	.	.	0.040	0.10527	.	.	0.46682414995	0.46307	0.11449187099966941	0.11377	.	.	0.31497746706	0.12660	T	0.061787	0.31746	T	-0.591101	0.00165	T	-0.614888	0.11591	T	0.0129447598679045	0.00223	T	0.454955	0.12997	T	0.1391694	0.32158	0.23276384	0.48447	0.1391694	0.32157	0.23276384	0.48446	-7.172	0.55280	T	.	.	0.130	0.27851	B	.	.	2.320343	0.29709	18.21	0.97890665674136967	0.36669	0.21787	0.21524	N	AEFDBI	0.088909	0.18024	N	-0.422678109216179	0.24676	1.334094	-0.365722283746319	0.26026	1.435017	0.185472225477047	0.17931	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.620846	0.47308	0	.	.	3.41	3.41	0.38145	0.290000	0.18731	.	.	-1.063000	0.01613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8943:0.0:0.1057	9.038	0.35462	675	0.60470	Cadherin conserved site|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	0.02381	1637.98	153	chr5	141193268	.	C	T	1637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.220e-01;DP=2053;ExcessHet=0.0000;FS=4.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-4.480e-01;SOR=1.110	GT:AD:DP:GQ:PL	0/1:90,61:151:99:1652,0,2542	20	0	1	0
chr5	141201506	141201506	C	T	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C1732T:p.R578W,	.	.	30	1476	16	0	0	16	0.00539084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.55	P	.	.	1.000	N	3.345	M	0.24	T	-0.645	T	0.274	T	0.453	2.228	13.41	-5.02	-1.127	-3.331	8.312	0.219	.	.	0.00299521	0.0134	0.0039	0.0111	0.0037	0.0249	0.0190	0.0084	0.0038	0.0058149	899	154602	rs200306163	0.0092	0.0094	0.0093	0.0091	0.0107	0.0091	0.0090	0.0095	0.0094	0.0020	0.0061	0.0223	0.0026	0.0152	0.0107	0.0096	0.0100	0.0036	0.0080	0.0082	0.0077	0.0084	0.0122	0.0076	0.0075	0.0107	0.0102	0.0026	0.0077	0.0122	0.0236	0.0031	0.0175	0.0068	0.0089	0.0071	0.0027	0.003	0.68238	D	0.004	0.79402	D	0.946	0.53363	P	0.55	0.49239	P	.	.	.	.	1	0.08975	N	3.355	0.91145	M	0.24	0.59583	T	-7.4	0.94758	D	0.412	0.47395	-0.6447	0.62944	T	0.274	0.64608	T	9	0.01023823	0.00229	T	.	.	.	0.219	0.51417	.	.	0.595302103986	0.59208	0.42296477812811595	0.42213	0.35052041495	0.36897	0.722939729691	0.70474	T	0.210812	0.57140	T	-0.396861	0.02428	T	-0.332452	0.41195	T	0.152785068528838	0.17323	T	0.820318	0.47908	T	0.49512807	0.66808	0.48506778	0.70194	0.49512807	0.66809	0.48506778	0.70194	-9.073	0.71535	D	.	.	0.160	0.42067	B	.;.	.;.	1.527005	0.19596	14.34	0.9924836739562376	0.56792	0.01738	0.05488	N	AEFI	0.152649	0.27737	N	-0.509585979626402	0.21768	1.157714	-0.832563155671573	0.13707	0.7125542	0.0336014086913275	0.14114	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-4.181000	0.00317	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.7392:0.1534:0.0:0.1074	8.312	0.31238	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	541.98	43	chr5	141201506	.	C	T	541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.82;DP=2295;ExcessHet=0.0000;FS=2.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.79;MQRankSum=-1.926e+00;QD=6.16;ReadPosRankSum=1.19;SOR=0.442	GT:AD:DP:GQ:PL	0/1:67,21:88:99:556,0,1731	20	0	1	0
chr5	141210609	141210609	G	A	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1702A:p.G568S,	.	.	19	1493	10	0	0	10	0.00333778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.127	B	0.033	B	.	.	0.970	N	0.81	L	0.16	T	-1.009	T	0.090	T	0.106	2.470	14.22	3.4	1.626	0.766	9.855	0.069	.	0.0057	0.00259585	0.0065	0.0020	0.0052	0	0.0057	0.0097	0.0047	0.0013	0.0032657	85	26028	rs151253443	0.0072	0.0072	0.0072	0.0071	0.0080	0.0071	0.0070	0.0079	0.0078	0.0012	0.0056	0.0125	2.52e-05	0.0062	0.0063	0.0080	0.0077	0.0014	0.0056	0.0056	0.0058	0.0055	0.0106	0.0053	0.0052	0.0093	0.0087	0.0024	0.0022	0.0106	0.0124	0	0.0041	0.0068	0.0071	0.0071	0.0010	0.201	0.20306	T	0.178	0.29639	T	0.127	0.26966	B	0.033	0.22329	B	.	.	.	.	0.970448	0.25704	N	0.845	0.21182	L	0.16	0.60610	T	-2.59	0.55821	D	0.069	0.04188	-1.0088	0.27292	T	0.090	0.34436	T	9	0.006162137	0.00139	T	.	.	.	0.069	0.20116	.	.	0.716020962526	0.71352	0.158494333480968	0.15770	0.214408577783	0.23972	0.564715921879	0.47932	T	0.017055	0.13979	T	-0.545915	0.00309	T	-0.550689	0.17261	T	0.0182747208517096	0.00546	T	0.735926	0.35246	T	0.08413262	0.19459	0.12923677	0.31079	0.08413262	0.19458	0.12923677	0.31078	-7.978	0.60920	D	.	.	0.074	0.08129	B	.;.	.;.	2.430218	0.31260	18.69	0.98867701034836419	0.47580	0.17993	0.20074	N	AEFBI	0.260657	0.37876	N	-0.546208554165606	0.20602	1.087299	-0.504189946335591	0.22038	1.195106	0.882116910353759	0.25646	0.553676	0.25195	0	0.588015	0.36545	0	0.603688	0.36954	0	0.567892	0.33627	0	.	.	3.4	3.4	0.38031	0.693000	0.25176	.	.	0.487000	0.22268	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1068:0.0:0.8932:0.0	9.855	0.40250	692	0.58729	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1574.98	61	chr5	141210609	.	G	A	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.32;DP=1249;ExcessHet=0.0000;FS=0.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.53;MQRankSum=-2.670e-01;QD=14.86;ReadPosRankSum=-7.850e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1589,0,1145	20	0	1	0
chr5	141210717	141210717	T	A	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.T1810A:p.Y604N,	.	.	21	1491	10	0	0	10	0.00334225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.946	P	0.949	D	.	.	0.547	N	4.745	H	-0.02	T	0.362	D	0.527	D	0.529	3.949	20.2	3.25	1.253	6.142	11.580	0.313	.	0.0049	0.00299521	0.0069	0.0023	0.0055	0.0007	0.0058	0.0104	0.0036	0.0011	0.0008085	125	154602	rs17844603	0.0076	0.0076	0.0077	0.0076	0.0088	0.0075	0.0075	0.0081	0.0081	0.0014	0.0057	0.0216	0.0004	0.0063	0.0088	0.0083	0.0086	0.0018	0.0060	0.0060	0.0062	0.0058	0.0107	0.0057	0.0056	0.0094	0.0089	0.0024	0.0022	0.0107	0.0219	0.0010	0.0041	0.0068	0.0074	0.0071	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.946	0.53363	P	0.949	0.68658	D	.	.	.	.	0.547238	0.31364	N	4.565	0.99167	H	-0.02	0.62918	T	-7.42	0.94814	D	0.613	0.64052	0.362	0.88516	D	0.527	0.82428	D	9	0.009377807	0.00212	T	.	.	.	0.313	0.63482	.	.	0.832710290672	0.83112	0.5683152926814415	0.56759	0.948421763614	0.72512	0.601305186749	0.53088	T	0.328904	0.69926	T	-0.265097	0.12308	T	-0.147172	0.59494	T	0.0710917413189032	0.08803	T	0.986401	0.95374	D	0.7740202	0.82290	0.75926334	0.85775	0.7740202	0.82291	0.75926334	0.85776	-14.794	0.96397	D	.	.	0.957	0.87648	P	.;.	.;.	3.260050	0.44579	22.0	0.98886495161570154	0.47930	0.97402	0.74521	D	AEFBI	0.651726	0.62537	D	0.733675385821981	0.81840	7.617346	0.530443262173326	0.70049	5.448296	0.997050152681219	0.35233	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.25	3.25	0.36363	6.090000	0.71042	.	.	0.480000	0.22105	0.929000	0.32243	0.952000	0.29052	0.866000	0.41154	0.0:0.0:0.0:1.0	11.580	0.50141	692	0.58729	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3010.11	61	chr5	141210717	.	T	A	3010.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.78;DP=1239;ExcessHet=0.1072;FS=0.501;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=39.94;MQRankSum=-4.670e-01;QD=13.62;ReadPosRankSum=1.39;SOR=0.623	GT:AD:DP:GQ:PL	0/1:38,58:96:99:1480,0,949	19	0	2	0
chr5	141246069	141246069	G	A	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.G491A:p.S164N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.001	B	0.013	B	.	.	1.000	N	1.515	L	0.71	T	-1.012	T	0.084	T	0.006	-0.932	0.375	-0.902	0.002	-3.643	4.090	0.027	0.00983905232666	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357473785	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.498	0.11263	T	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.375	0.34280	L	0.71	0.51228	T	-1.07	0.27876	N	0.011	0.00110	-1.0116	0.26416	T	0.084	0.32814	T	9	0.08736813	0.14941	T	0.009839	0.25653	T	0.027	0.05988	0.208	0.12497	0.399889258716	0.39604	0.09258657567060875	0.09190	0.394183223072	0.40577	0.290404438972	0.08981	T	0.001763	0.01186	T	-0.358432	0.04219	T	-0.752639	0.03384	T	0.0216828451181201	0.00873	T	0.285071	0.05059	T	0.050651073	0.09184	0.065388575	0.13246	0.050651073	0.09184	0.065388575	0.13245	-4.8	0.34591	T	.	.	0.065	0.01859	B	.	.	0.642317	0.10110	6.854	0.71859045199274363	0.09773	0.00664	0.02871	N	AEFDBI	0.052977	0.09506	N	-1.09358799086673	0.06760	0.312148	-1.08317399645015	0.08032	0.3931512	0.783074883129098	0.23880	0.608746	0.35421	0	0.573888	0.26702	0	0.731467	0.93227	0	0.620846	0.47308	0	.	.	4.92	-0.902	0.10002	-1.793000	0.01851	.	.	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.677000	0.33454	0.3525:0.0:0.2494:0.3981	4.090	0.09438	683	0.59664	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2426.98	125	chr5	141246069	.	G	A	2426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=1135;ExcessHet=0.0000;FS=2.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.71;ReadPosRankSum=7.000e-03;SOR=0.624	GT:AD:DP:GQ:PL	0/1:74,91:165:99:2441,0,1898	20	0	1	0
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,43:166:99:.:.:751,0,3065	1	0	20	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925: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	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:156,66:222:99:270,0,3424	6	0	15	0
chr5	150795591	150795591	C	T	exonic	SMIM3	.	nonsynonymous SNV	SMIM3:NM_032947:exon2:c.C151T:p.R51W,	.	.	431	1058	32	1	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	D	.	.	.	.	-0.724	T	0.105	T	0.545	3.282	17.02	4.25	1.483	1.480	11.905	0.184	.	.	0.0313498	0.0314	0	0.0036	0.0088	0	0.0007	0.0223	0.1301	0.0127618	1973	154602	rs2278396	0.0079	0.0079	0.0051	0.0109	0.1047	0.0078	0.0078	0.1029	0.1021	0.0002	0.0006	0.0004	0.0479	2.504e-05	0.0040	0.0003	0.0076	0.1047	0.0043	0.0043	0.0024	0.0064	0.1143	0.0040	0.0039	0.1064	0.1032	0.0002	0	0.0005	0.0009	0.0131	0	0	0.0002	0.0024	0.1143	0.078	0.33923	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.547288	0.32103	D	.	.	.	.	.	.	-5.81	0.88224	D	0.159	0.16586	-0.7244	0.59244	T	0.105	0.38489	T	4	0.0017156005	0.00021	T	.	.	.	0.184	0.45763	.	.	.	.	0.9545064649911522	0.95435	9.75130162978E-4	0.00084	0.627529084682	0.56795	T	0.12772	0.45492	T	-0.37132	0.03528	T	-0.219299	0.52805	T	0.0434193766329989	0.04315	T	0.817618	0.47476	T	0.247569	0.47736	0.37497327	0.62651	0.247569	0.47736	0.37497327	0.62651	-7.609	0.58374	D	.	.	0.113	0.23848	B	.;.	.;.	3.824500	0.55248	23.6	0.99850030283275237	0.92925	0.75428	0.36930	D	AEFGBI	0.447354	0.50303	N	0.117972394915461	0.47302	2.957785	0.164970012845251	0.47940	3.016899	0.999999558633297	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	5.11	4.25	0.49658	1.647000	0.36876	2.193000	0.31224	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9131:0.0:0.0869	11.905	0.51985	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1277.98	36	chr5	150795591	.	C	T	1277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=834;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=2.37;SOR=0.861	GT:AD:DP:GQ:PL	0/1:66,52:118:99:1292,0,1539	20	0	1	0
chr5	154822476	154822476	T	A	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon7:c.A674T:p.H225L,	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.616	P	0.574	P	0.000	D	1.000	D	2.515	M	-1.66	D	0.032	D	0.600	D	0.879	3.619	18.42	5.27	1.992	7.668	14.387	0.696	0.282253165996	8.2e-05	0.00159744	0.0009	0.0002	8.639e-05	0	0.0003	0.0003	0.0011	0.0050	0.0007762	120	154602	rs199868107	0.0006	0.0006	0.0004	0.0007	0.0054	0.0005	0.0005	0.0050	0.0049	0	0.0004	0	0	1.872e-05	0.0052	0.0002	0.0005	0.0054	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	7.215e-05	0	0.0018	0	0	9.413e-05	0	0.0002	0.0005	0.0052	0.001	0.78490	D	0.003	0.76473	D	0.616	0.39820	P	0.574	0.49998	P	0.000000	0.84330	D	0.090003	1	0.81001	D	2.595	0.75868	M	-1.66	0.82715	D	-9.39	0.98373	D	0.906	0.91162	0.032	0.82888	D	0.600	0.85766	D	10	0.1042999	0.19222	T	0.282253	0.90273	D	0.696	0.89007	.	.	0.516884031612	0.51331	0.8477747922481085	0.84738	0.733661856495	0.62852	0.611201703548	0.54486	T	0.408201	0.76360	T	0.0614222	0.59791	T	0.315856	0.88917	D	0.345327526330948	0.26835	T	0.882812	0.65732	D	0.82542175	0.85587	0.7145852	0.83156	0.82542175	0.85589	0.7145852	0.83157	-10.014	0.73996	D	.	.	0.361	0.57829	A	.;.	.;.	4.283971	0.65277	24.8	0.96930404852154828	0.31656	0.94243	0.60550	D	AEFDBCI	0.958999	0.97910	D	0.215385357102416	0.51946	3.371953	0.193629074390948	0.49497	3.152173	0.999999999998538	0.74766	0.660377	0.49826	0	0.446627	0.06534	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.27	5.27	0.73797	7.650000	0.82668	3.376000	0.37968	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:0.0:0.0:1.0	14.387	0.66519	894	0.26265	Fatty acid hydroxylase;.	.	.	.	.	.	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	0.02381	713.98	33	chr5	154822476	.	T	A	713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=763;ExcessHet=0.0000;FS=5.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-3.030e-01;SOR=1.300	GT:AD:DP:GQ:PL	0/1:33,30:63:99:728,0,818	20	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,373,0:373:99:.:.:16665,1130,0,16665,1130,16665	0	12	1	0
chr5	157162926	157162926	G	A	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon2:c.C1339T:p.R447C,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.642	P	0.517	N	1.000	D	2.005	M	2.15	T	-1.071	T	0.051	T	0.094	3.208	16.74	3.76	1.241	1.831	10.797	0.150	.	0.0068	0.00638978	0.0035	0.0164	0.0006	0.0007	0.0011	0.0001	0	0.0135	0.0030401	470	154602	rs115938677	0.0013	0.0013	0.0010	0.0017	0.0154	0.0013	0.0013	0.0143	0.0139	0.0154	0.0007	0	0.0001	0.0006	0.0028	8.004e-05	0.0013	0.0139	0.0052	0.0053	0.0053	0.0052	0.0169	0.0049	0.0048	0.0159	0.0155	0.0169	0	0.0009	0	0	0.0003	0.0034	0.0002	0.0038	0.0116	0.001	0.78490	D	0.004	0.74150	D	0.997	0.70673	D	0.642	0.52168	P	0.517312	0.05182	N	1.354870	0.927243	0.36859	D	2.72	0.79541	M	2.15	0.19311	T	-4.97	0.82063	D	0.131	0.12627	-1.0707	0.09260	T	0.051	0.21883	T	10	0.0038262606	0.00072	T	.	.	.	0.150	0.39571	.	.	0.143124449307	0.13826	0.06575553279540185	0.06514	0.385115291346	0.39804	0.171306908131	0.00037	T	0.123464	0.44785	T	-0.576277	0.00203	T	-0.586279	0.13990	T	0.0381790168379952	0.03364	T	0.663034	0.27207	T	0.23702444	0.46560	0.23091571	0.48207	0.23702444	0.46560	0.23091571	0.48206	-7.235	0.55732	T	.	.	0.121	0.25166	B	.	.	3.991561	0.58755	24.0	0.9984306206355853	0.92316	0.74909	0.36657	D	AEFBI	0.121962	0.23688	N	0.195048601742837	0.50960	3.281317	0.0940322503795616	0.44247	2.710234	0.159588353195494	0.17572	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	3.76	0.42368	1.393000	0.34106	3.494000	0.38734	0.676000	0.76740	0.907000	0.31601	0.998000	0.33993	0.368000	0.26066	0.0:0.0:0.8103:0.1897	10.797	0.45668	555	0.71762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2027.98	41	chr5	157162926	.	G	A	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=1139;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=1.19;SOR=0.672	GT:AD:DP:GQ:PL	0/1:82,79:161:99:2042,0,1953	20	0	1	0
chr5	157564437	157564437	G	A	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon3:c.C187T:p.L63F,	.	.	414	1102	6	0	0	6	0.00271493	.	.	2825493	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.01	B	0.007	B	0.102	N	1.000	N	1.87	L	3.39	T	-1.007	T	0.013	T	0.164	2.156	13.17	2.6	0.222	1.752	4.457	0.035	.	0.0040	0.00179712	0.0047	0.0014	0.0022	0	0.0115	0.0060	0.0022	0.0035	0.0047089	728	154602	rs61753548	0.0050	0.0050	0.0050	0.0049	0.0054	0.0049	0.0048	0.0053	0.0052	0.0010	0.0023	3.826e-05	2.519e-05	0.0118	0.0019	0.0054	0.0039	0.0033	0.0039	0.0039	0.0034	0.0044	0.0050	0.0036	0.0035	0.0046	0.0044	0.0009	0.0088	0.0021	0	0	0.0138	0	0.0050	0.0071	0.0023	0.059	0.37536	T	0.057	0.46406	T	0.01	0.15535	B	0.007	0.12992	B	0.101501	0.19837	N	0.421219	1	0.81001	D	2.075	0.57047	M	3.39	0.05710	T	-0.99	0.26200	N	0.201	0.22228	-1.0066	0.27973	T	0.013	0.04985	T	10	0.0060758293	0.00137	T	.	.	.	0.035	0.08770	.	.	0.410204130746	0.40637	0.4576780168542589	0.45685	0.562753681363	0.52734	0.301738142967	0.10659	T	0.043535	0.26531	T	-0.539509	0.00337	T	-0.541771	0.18124	T	0.0162177294461319	0.00395	T	0.49655	0.17058	T	0.03957926	0.05492	0.04824578	0.07126	0.03957926	0.05492	0.04824578	0.07126	-3.55	0.17338	T	.	.	0.075	0.06710	B	.;.	.;.	1.966598	0.24982	16.60	0.9926961293427693	0.57491	0.68287	0.33745	D	ALL	0.117602	0.23031	N	-0.393836682103267	0.25688	1.396303	-0.272667122700432	0.29003	1.621472	0.999999381641573	0.74766	0.730579	0.87903	0	0.615513	0.52658	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.52	2.6	0.30173	1.590000	0.36264	3.240000	0.36960	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1962:0.0:0.6308:0.1731	4.457	0.11068	872	0.31118	.;Peptidase M12B, propeptide	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1159.98	35	chr5	157564437	.	G	A	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.630e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-1.652e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1174,0,1247	20	0	1	0
chr5	160634489	160634489	G	A	exonic	ATP10B	.	stopgain	ATP10B:NM_001366658:exon7:c.C1162T:p.R388X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.753	46	4.64	1.297	2.901	14.612	.	.	.	0.000199681	1.66e-05	0	8.66e-05	0.0001	0	0	0	0	1.94e-05	3	154602	rs201139624	8.209e-06	8.209e-06	8.167e-06	8.25e-06	6.708e-05	4.38e-06	3.46e-06	1.779e-05	8.93e-06	0	6.708e-05	0	2.519e-05	0	0	7.194e-06	0	0	5.91e-05	5.906e-05	6.426e-05	5.371e-05	0.0005	3.076e-05	2.209e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000099	0.51296	D	0.077227	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.426	0.46555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477335	0.93604	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	8.947270	0.98247	39	0.99849604957285987	0.92925	0.92482	0.55814	D	AEFI	0.259053	0.37748	N	0.901653851607265	0.91840	11.09258	0.720690011004834	0.83951	8.158139	0.0300066048392184	0.13918	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.53	4.64	0.57399	2.973000	0.48956	9.768000	0.81541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.8533:0.1467	14.612	0.68122	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2266.98	38	chr5	160634489	.	G	A	2266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=869;ExcessHet=0.0000;FS=0.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.407;SOR=0.625	GT:AD:DP:GQ:PL	0/1:87,88:175:99:2281,0,2074	20	0	1	0
chr5	169594629	169594629	A	G	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon7:c.A839G:p.Q280R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.994	D	0.000	D	0.995	D	2.135	M	1.38	T	-0.796	T	0.217	T	0.446	4.125	21.3	5.8	2.207	6.432	16.154	0.134	0.0220758738684	0.0002	0.000599042	0.0005	0	0.0002	0	0	0.0003	0.0011	0.0021	0.0004269	66	154602	rs150689580	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	0.0002	0.0026	2.52e-05	0	0.0012	9.534e-05	0.0005	0.0021	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0	0	0.0004	0.0035	0	0	0	0.0001	0.0005	0.0021	0.009	0.57480	D	0.013	0.63109	D	0.999	0.77913	D	0.943	0.67921	D	0.000001	0.84330	D	0.054792	0.995145	0.42562	D	1.87	0.49600	L	1.38	0.34050	T	-2.24	0.50175	N	0.543	0.57006	-0.7964	0.55356	T	0.217	0.57876	T	10	0.018501371	0.00403	T	0.022076	0.44930	T	0.134	0.36365	.	.	0.652441387294	0.64954	0.15638553366049823	0.15559	0.235566991127	0.26085	0.486807107925	0.36996	T	0.029201	0.20979	T	-0.378464	0.03185	T	-0.322272	0.42324	T	0.044239316385369	0.04464	T	0.849315	0.53201	T	0.2931814	0.52287	0.41529858	0.65648	0.27170628	0.50241	0.38879427	0.63714	-5.915	0.45562	T	.	.	0.161	0.35622	B	.	.	4.592305	0.72647	25.9	0.99857582208872864	0.93639	0.98039	0.79086	D	AEFBI	0.766540	0.70269	D	0.708534990423119	0.80193	7.240123	0.707530139829541	0.82951	7.895813	0.999999991856302	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	6.438000	0.73348	9.263000	0.79575	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.154	0.81460	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1585.98	35	chr5	169594629	.	A	G	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.196e+00;DP=966;ExcessHet=0.0000;FS=0.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=0.748;SOR=0.830	GT:AD:DP:GQ:PL	0/1:41,61:102:99:1600,0,1010	20	0	1	0
chr5	176529760	176529760	C	T	exonic	RNF44	.	nonsynonymous SNV	RNF44:NM_014901:exon8:c.G985A:p.V329M,	.	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.991	D	0.000	D	1.000	D	1.39	L	2.6	T	-1.090	T	0.095	T	0.675	4.766	26.7	5.01	2.606	7.235	18.111	0.142	0.0353931362956	0.0009	0.000399361	0.0008	0.0017	0.0008	0	0	0.0004	0.0013	0.0025	0.000608	94	154602	rs114764573	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0018	0.0017	0.0013	0.0010	7.696e-05	7.559e-05	0	0.0017	0.0004	0.0005	0.0020	0.0006	0.0006	0.0005	0.0007	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0009	0	0	0	0	0.0003	0.0005	0.0008	0.004	0.65419	D	0.067	0.44302	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999903	0.50806	D	2.125	0.59049	M	2.32	0.16640	T	-0.93	0.24898	N	0.608	0.62526	-1.0897	0.05582	T	0.095	0.35871	T	10	0.0330607	0.01472	T	0.035393	0.56317	D	0.185	0.45933	.	.	0.322284741503	0.31843	0.6353027133647586	0.63464	0.730750437369	0.62720	0.798013031483	0.81661	T	0.031629	0.22129	T	-0.318574	0.07015	T	-0.23717	0.51074	T	0.0299282090100239	0.01979	T	0.940306	0.77472	D	0.29831415	0.52753	0.18525375	0.41628	0.29831415	0.52753	0.18525375	0.41627	-7.586	0.58213	D	.	.	0.194	0.41387	B	.	.	4.681300	0.74923	26.2	0.9988003132044303	0.95653	0.97183	0.73178	D	AEFDBCI	0.812928	0.73553	D	0.698375978476868	0.79523	7.096189	0.694251073471682	0.81941	7.646069	0.999999999999993	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	4.719000	0.61629	3.997000	0.41039	0.513000	0.23382	1.000000	0.71638	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	18.111	0.89466	526	0.73951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2220.11	38	chr5	176529760	.	C	T	2220.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.61;DP=1027;ExcessHet=0.1072;FS=2.311;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=1.24;SOR=0.803	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1150,0,1273	19	0	2	0
chr5	177402368	177402368	C	T	exonic	F12	.	nonsynonymous SNV	F12:NM_000505:exon14:c.G1772A:p.G591D,	Angioedema, hereditary, type III, Autosomal dominant;Factor XII deficiency, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.997	D	2.495	M	0.06	T	-0.089	T	0.434	T	0.856	4.005	20.5	5.3	2.479	1.154	12.723	0.463	0.103212151858	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383338467	2.053e-06	2.052e-06	1.362e-06	2.751e-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	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	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000293	0.46274	D	0.000000	0.997193	0.43699	D	2.09	0.57893	M	0.06	0.61798	T	-5.26	0.84105	D	0.372	0.41360	-0.0894	0.80341	T	0.434	0.77484	T	10	0.9134089	0.90704	D	0.103212	0.77711	D	0.463	0.75956	0.884	0.97032	0.77589158586	0.77382	0.9190023557557815	0.91876	0.517614673537	0.49624	0.459723651409	0.33271	T	0.684401	0.90765	D	0.236926	0.77371	D	0.102552	0.77078	D	0.995949983596802	0.88365	D	0.839116	0.51273	T	0.96925855	0.98191	0.9442622	0.98043	0.96925855	0.98191	0.9442622	0.98044	-14.438	0.94393	D	0.4037794809881309	0.49518	0.876	0.81224	P	.	.	4.601568	0.72891	25.9	0.99844265290201772	0.92403	0.60916	0.31333	D	AEFDBHCI	0.591744	0.58772	D	0.564929235652664	0.70996	5.58424	0.494483873340093	0.67623	5.108962	0.99999925270443	0.74766	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.600526	0.37237	0	.	.	5.3	5.3	0.74745	1.043000	0.29926	5.923000	0.51195	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.996000	0.76049	0.0:0.7189:0.2811:0.0	12.723	0.56523	929	0.16858	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	35	chr5	177402368	.	C	T	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=796;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.24;ReadPosRankSum=-3.600e-02;SOR=0.820	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1606,0,1007	20	0	1	0
chr5	178884259	178884259	G	A	exonic	ZNF354B	.	nonsynonymous SNV	ZNF354B:NM_058230:exon5:c.G1807A:p.E603K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.106	B	0.033	B	.	.	0.709	N	0.945	L	2.93	T	-1.074	T	0.022	T	0.26	1.069	9.366	2.63	0.649	2.208	9.612	0.043	0.00494641262011	0.0023	0.000998403	0.0017	0.0012	0.0006	0	0	0.0027	0	0.0005	0.0018046	279	154602	rs77568902	0.0030	0.0030	0.0031	0.0029	0.0038	0.0030	0.0029	0.0037	0.0037	0.0004	0.0007	3.935e-05	0	7.536e-05	0	0.0038	0.0016	0.0004	0.0016	0.0016	0.0017	0.0015	0.0031	0.0015	0.0014	0.0028	0.0027	0.0004	0	0.0009	0	0	0.0002	0	0.0031	0.0005	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.106	0.26037	B	0.033	0.22329	B	.	.	.	.	0.709031	0.30031	N	1.16	0.29674	L	2.93	0.09822	T	-2.56	0.55339	D	0.185	0.20129	-1.0741	0.08535	T	0.022	0.09193	T	9	0.0048362315	0.00103	T	0.004946	0.12442	T	0.043	0.11576	.	.	0.0482279557977	0.04254	0.08236951469745327	0.08171	0.374902333874	0.38949	0.435981214046	0.30028	T	0.126278	0.45255	T	-0.514842	0.00471	T	-0.514733	0.20829	T	0.0295023158452375	0.01913	T	0.40206	0.10263	T	0.2726257	0.50331	0.31280872	0.57281	0.2726257	0.50331	0.31280872	0.57280	-4.125	0.25658	T	.	.	0.097	0.15921	B	.	.	3.122114	0.42153	21.5	0.99033820054987576	0.50851	0.23327	0.22040	N	AEFBHCI	0.118809	0.23217	N	-0.595827099530192	0.19071	0.9952376	-0.59502233581629	0.19622	1.053605	0.0152513280354123	0.12692	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	3.54	2.63	0.30420	1.933000	0.39783	2.897000	0.35426	0.590000	0.31872	0.210000	0.24424	0.999000	0.35428	0.982000	0.59238	0.0:0.0:0.7896:0.2104	9.612	0.38835	929	0.16858	Zinc finger C2H2-type	.	.	.	.	.	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	0.04762	1617.08	40	chr5	178884259	.	G	A	1617.08	.	AC=2;AF=0.048;AN=42;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.34;SOR=1.390	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1645,150,0	20	1	0	0
chr6	10751156	10751156	G	T	exonic	TMEM14B	.	nonsynonymous SNV	TMEM14B:NM_001286484:exon3:c.G91T:p.G31W	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	3.91	H	-1.07	T	0.718	D	0.718	D	0.9	2.604	14.67	4.01	2.236	7.238	16.255	0.728	.	0.0048	0.00279553	0.0045	0.0010	0.0021	0	0.0198	0.0052	0.0110	0.0011	0.004379	677	154602	rs17849403	0.0062	0.0062	0.0064	0.0060	0.0068	0.0061	0.0061	0.0066	0.0066	0.0007	0.0021	0.0007	0	0.0185	0.0005	0.0068	0.0048	0.0015	0.0054	0.0054	0.0050	0.0058	0.0063	0.0051	0.0050	0.0058	0.0056	0.0015	0.0429	0.0027	0.0009	0	0.0220	0	0.0063	0.0057	0.0010	0.01	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.07	0.76948	T	-7.52	0.95102	D	0.968	0.97856	0.718	0.93399	D	0.718	0.90313	D	10	0.020669937	0.00480	T	.	.	.	0.728	0.90457	.	.	0.751625969435	0.74937	0.4273341070267722	0.42650	0.359737723146	0.37668	0.767693281174	0.77079	T	0.44492	0.78814	T	0.067588	0.60554	T	0.328454	0.89443	D	0.0993654558932391	0.12287	T	0.946905	0.94867	D	0.5453247	0.69695	0.40319312	0.64781	0.5453247	0.69696	0.40319312	0.64781	-14.354	0.94150	D	.	.	0.669	0.71685	P	.;.;.;.	.;.;.;.	4.580107	0.72349	25.8	0.9922834938039391	0.56120	0.96071	0.67401	D	AEFDBI	0.907224	0.86097	D	0.656309409784636	0.76777	6.549597	0.44517961316312	0.64409	4.695291	0.999999999982787	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.01	4.01	0.45821	7.646000	0.82603	8.557000	0.77551	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	16.255	0.82340	862	0.33134	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	752.33	34	chr6	10751156	.	G	T	752.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.390e-01;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.90;ReadPosRankSum=-8.770e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:47,29:76:99:766,0,1351	19	0	1	1
chr6	12123165	12123165	A	G	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.A3370G:p.I1124V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.008	N	1.000	N	-0.345	N	2.82	T	-0.977	T	0.004	T	0.026	-2.313	0.004	-11.7	-3.396	-0.500	15.587	0.089	0.00174941461117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10180	T	0.308	0.19845	T	.	.	.	.	.	.	0.008172	0.01195	N	2.937170	1	0.08975	N	.	.	.	2.82	0.10871	T	0.39	0.03521	N	0.028	0.00618	-0.9768	0.35727	T	0.004	0.01159	T	9	0.041787535	0.02866	T	0.001749	0.02960	T	0.089	0.25827	0.132	0.03662	0.189391138174	0.18552	0.024233412644393083	0.02374	0.0715074267756	0.08007	0.220904231071	0.01363	T	.	.	.	-0.419091	0.01733	T	-0.839772	0.01102	T	0.163269728422165	0.18110	T	0.505949	0.15996	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.01179	B	.;.	.;.	-2.126890	0.00076	0.001	0.16317375654650118	0.00433	0.05266	0.11105	N	AEFBCI	0.035466	0.04571	N	-1.80994119769322	0.00521	0.02243559	-1.90822098352281	0.00472	0.02088313	0.999929299357143	0.46280	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	-11.7	0.00035	-0.474000	0.06686	-1.172000	0.06122	-0.604000	0.04605	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1685:0.0759:0.6807:0.0749	15.587	0.76240	493	0.76500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1998.98	117	chr6	12123165	.	A	G	1998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.100e-01;DP=1748;ExcessHet=0.0000;FS=1.269;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-1.783e+00;SOR=0.827	GT:AD:DP:GQ:PL	0/1:76,77:153:99:2013,0,2042	20	0	1	0
chr6	29588533	29588533	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G589A:p.V197M,	.	.	435	1085	2	0	0	2	0.00092081	.	.	3363496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.0	B	0.045	N	1.000	N	0.97	L	8.63	T	-0.935	T	0.000	T	0.077	-0.991	0.273	3.06	0.184	-0.858	3.925	0.020	0.00171774340833	.	0.000199681	0.0001	0	0	0.0001	0	0.0002	0	6.15e-05	8.41e-05	13	154602	rs550521803	8.336e-05	6.097e-05	6.873e-05	9.635e-05	0.0004	6.657e-05	6.052e-05	8.456e-05	7.585e-05	0.0001	6.83e-05	0	0	0	0.0004	0.0001	0.0001	0	6.566e-05	6.562e-05	5.14e-05	8.055e-05	0.0002	3.514e-05	2.614e-05	4.765e-05	3.339e-05	4.812e-05	0	0	0	0.0002	0	0	0.0001	0	0	0.41	0.10148	T	0.747	0.04860	T	0.0	0.02946	B	0.0	0.01387	B	0.044602	0.23620	N	0.313478	1	0.08975	N	0.2	0.09183	N	8.63	0.00155	T	0.22	0.04694	N	0.045	0.01740	-0.9353	0.43349	T	0.000	0.00039	T	10	0.019953966	0.00452	T	0.001718	0.02882	T	0.020	0.03691	.	.	0.0716867268079	0.06686	0.14813837785421557	0.14735	0.182389391068	0.20501	0.277507454157	0.07147	T	0.003432	0.02839	T	-0.559999	0.00254	T	-0.772876	0.02674	T	0.0242720778260924	0.01180	T	.	.	.	0.029397454	0.02427	0.06375167	0.12674	0.029397454	0.02426	0.06375167	0.12674	-2.028	0.03288	T	.	.	0.098	0.16319	B	.;.	.;.	-0.408165	0.02182	0.215	0.60767046354678056	0.06543	0.01084	0.03998	N	AEFDBI	0.027575	0.02279	N	-1.0031420193163	0.08538	0.4007098	-0.963319383238702	0.10616	0.5357653	0.038866656311045	0.14367	0.660377	0.49826	0	0.59043	0.45803	0	0.696353	0.63694	0	0.530356	0.10902	0	.	.	4.24	3.06	0.34374	-1.771000	0.01887	.	.	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.533000	0.29776	0.6634:0.0:0.1795:0.1571	3.925	0.08759	846	0.36215	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1849.98	40	chr6	29588533	.	G	A	1849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1082;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=1.15;SOR=0.693	GT:AD:DP:GQ:PL	0/1:133,73:206:99:1864,0,3566	20	0	1	0
chr6	29673562	29673562	A	C	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.T333G:p.C111W	Diabetes mellitus, transient neonatal, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.979	D	0.792	P	0.472	N	0.995	D	1.51	L	0.69	T	-0.944	T	0.099	T	0.346	1.201	9.880	-0.072	-0.003	0.049	3.822	0.131	0.0342610859275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.011	0.64786	D	0.979	0.59044	D	0.792	0.57793	P	0.472001	0.04931	N	1.348420	0.994785	0.42415	D	.	.	.	0.69	0.51714	T	-3.3	0.65858	D	0.35	0.39153	-0.9435	0.42057	T	0.099	0.36882	T	10	0.23685396	0.40775	T	0.034261	0.55552	D	0.131	0.35738	0.444	0.50139	0.505211317368	0.50158	0.16831177280503276	0.16751	1.33123567361	0.83657	0.34201207757	0.16739	T	0.329699	0.69997	T	-0.143826	0.29281	T	-0.444373	0.28320	T	0.341542159864364	0.26685	T	0.786321	0.42483	T	0.27505878	0.50570	0.22166924	0.46986	0.27505878	0.50570	0.22166924	0.46985	-6.94	0.54471	T	.	.	0.798	0.77209	P	.;.;.	.;.;.	2.160012	0.27519	17.49	0.9766844866008082	0.35241	0.19921	0.20846	N	AEFBI	0.610648	0.59939	D	-0.544792175309086	0.20647	1.089978	-0.772872310609986	0.15161	0.7959921	0.743021704827633	0.23242	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.73	-0.0718	0.13075	-0.531000	0.06259	.	.	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.372000	0.26156	0.4473:0.2034:0.3493:0.0	3.822	0.08353	856	0.34373	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1235.98	42	chr6	29673562	.	A	C	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=921;ExcessHet=0.0000;FS=1.764;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-2.123e+00;SOR=0.971	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1250,0,1267	20	0	1	0
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,13,0:62:99:.:.:224,0,1512,372,1551,1923	6	0	13	1
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V	.	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.996	D	0.021	N	0.944	N	1.505	L	4.18	T	-1.049	T	0.013	T	0.464	1.395	10.60	3.69	2.070	-0.097	11.152	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	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;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	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	3025.68	137	chr6	29944308	.	C	T	3025.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.660;DP=3139;ExcessHet=0.3300;FS=21.319;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.63;MQRankSum=-3.310e-01;QD=6.68;ReadPosRankSum=0.494;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,30:130:99:0|1:29944308_C_T:897,0,3859:29944308	18	0	3	0
chr6	30986616	30986661	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	13728.66	432	chr6	30986616	.	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	T,CAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC,*	13728.66	.	AC=1,2,1;AF=0.024,0.048,0.024;AN=42;BaseQRankSum=-8.230e-01;DP=9954;ExcessHet=0.6776;FS=6.065;InbreedingCoeff=-0.1053;MLEAC=1,2,1;MLEAF=0.024,0.048,0.024;MQ=57.99;MQRankSum=-4.406e+00;QD=7.47;ReadPosRankSum=1.85;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:218,124,0,0:342:99:.:.:3918,0,8141,4574,8544,13118,4574,8544,13118,13118	17	0	1	0
chr6	30986657	30986657	A	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	8234.21	432	chr6	30986657	.	A	G,*	8234.21	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.397;DP=9754;ExcessHet=0.3476;FS=4.024;InbreedingCoeff=0.0459;MLEAC=2,1;MLEAF=0.053,0.026;MQ=57.05;MQRankSum=-7.199e+00;QD=5.26;ReadPosRankSum=-6.990e-01;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,124:342:99:.:.:3918,4574,13118,0,8544,8141	16	0	2	2
chr6	30986661	30986661	C	0	exonic	MUC21	.	.	.	.	.	454	958	96	0	14	110	0.0477137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8575.67	432	chr6	30986661	.	C	T,*	8575.67	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-3.158e+00;DP=9758;ExcessHet=0.3476;FS=3.259;InbreedingCoeff=0.0789;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.03;MQRankSum=-7.002e+00;QD=6.47;ReadPosRankSum=1.40;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,124:342:99:.:.:3918,4574,13118,0,8544,8141	17	0	2	1
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del	.	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	8788.29	575	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	8788.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.540e-01;DP=12322;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.95;MQRankSum=-1.552e+00;QD=15.75;ReadPosRankSum=-2.380e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:305,253:558:99:8802,0,11504	19	0	1	1
chr6	31029724	31029753	AGGCTCTGAGACCACCACAGCCTCCACTGC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4293_4322del:p.A1451_T1460del	.	.	421	1050	18	21	12	72	0.0277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0008	0.0009	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0018	0.0037	0.0038	0.0010	0.0020	0.0032	0.0007	0.0016	0.0004	0.0045	0.0038	0.0046	0.0044	0.0074	0.0041	0.0040	0.0059	0.0053	0.0046	0	0.0074	0.0098	0.0021	0.0013	0.0366	0.0042	0.0048	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/1:228,197,0,0:427:99:6872,0,8286,8379,9717,22354,8379,9717,22354,22354	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTASTAGSETTTAST	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/1:228,197,0,0:427:99:6872,0,8286,8379,9717,22354,8379,9717,22354,22354	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST	.	.	0	206	1	0	19	20	0.00242131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/1:228,197,0,0:427:99:6872,0,8286,8379,9717,22354,8379,9717,22354,22354	11	0	1	6
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:103,0,145:248:99:0|1:31138722_G_A:5672,5982,10189,0,4207,3771:31138722	4	3	9	0
chr6	31157414	31157414	T	-	exonic	CCHCR1	.	frameshift deletion	CCHCR1:NM_001105563:exon1:c.187delA:p.S63Afs*7	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0005	0.0005	0.0002	0	0.0012	0.0007	0.0012	0	0.0003946	61	154602	rs372158582	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	0.0009	0.0002	0.0016	0	0.0013	0.0023	0.0003	0.0004	5.797e-05	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0002	0	0.0003	0.0014	0	0.0007	0.0034	0.0006	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1333.94	41	chr6	31157413	.	CT	C	1333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=1360;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.443;SOR=0.715	GT:AD:DP:GQ:PL	0/1:42,40:82:99:1348,0,1398	20	0	1	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	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	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,42,0:138:99:.:.:872,0,2805,1160,2931,4091	0	13	5	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T	.	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.822	P	0.515	P	0.795	U	1.000	N	2.28	M	5.66	T	-0.967	T	0.053	T	0.511	2.068	12.87	-2.58	-0.698	-1.272	0.915	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2749.11	173	chr6	31271148	.	C	T	2749.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.341e+00;DP=3648;ExcessHet=0.1072;FS=7.721;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.20;MQRankSum=5.62;QD=7.07;ReadPosRankSum=3.15;SOR=1.043	GT:AD:DP:GQ:PL	0/1:154,51:205:99:910,0,5338	19	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:180,23,0,0:203:99:.:.:422,0,7489,964,7558,8522,964,7558,8522,8522	0	0	16	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E,	.	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.002	B	0.027	N	1.000	N	-1.24	N	2.69	T	-0.949	T	0.003	T	0.362	-0.629	1.213	-1.11	-0.413	-2.426	4.780	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1204.88	149	chr6	31355338	.	T	C	1204.88	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.984e+00;DP=2987;ExcessHet=1.7912;FS=11.295;InbreedingCoeff=-0.1703;MLEAC=5;MLEAF=0.125;MQ=58.62;MQRankSum=-9.798e+00;QD=1.30;ReadPosRankSum=1.79;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,9:134:2:0|1:31355338_T_C:2,0,5131:31355338	14	0	6	1
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,54,0:54:99:1|1:31356168_A_C:2389,163,0,2389,163,2389:31356168	0	17	1	0
chr6	31356421	31356421	A	G	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.T365C:p.M122T,	.	.	18	1502	2	0	0	2	0.000665336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.999	D	0.032	N	1.000	N	3.685	H	5.75	T	-1.018	T	0.009	T	0.583	0.455	6.469	2.0	0.446	1.021	6.594	0.084	0.0023620333936	0.0006	0.000199681	0.0006	0.0003	0	0	0.0012	0.0008	0.0017	0	0.0004075	63	154602	rs41562913	0.0006	0.0005	0.0005	0.0006	0.0040	0.0005	0.0005	0.0019	0.0013	0.0009	0.0002	0.0002	0	0.0026	0.0040	0.0005	0.0003	9.721e-05	0.0007	0.0007	0.0008	0.0007	0.0010	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0005	0	0	0.0011	0.0250	0.0010	0	0	0.003	0.68238	D	0.053	0.54159	T	0.01	0.15535	B	0.313	0.41496	B	0.031690	0.25133	N	0.184846	1	0.08975	N	.	.	.	5.57	0.00853	T	-5.16	0.83422	D	0.424	0.46368	-1.0181	0.24334	T	0.009	0.03227	T	10	0.0015561283	0.00018	T	0.002362	0.04590	T	0.084	0.24469	.	.	0.20549828249	0.20151	0.27154813666473754	0.27067	0.895469679383	0.70442	.	.	.	0.058393	0.34300	T	-0.336806	0.05613	T	-0.361891	0.37833	T	0.132099922488932	0.15575	T	0.39616	0.09972	T	0.51259834	0.67831	0.7082382	0.82794	0.51259834	0.67832	0.7082382	0.82795	-6.845	0.52893	T	.	.	0.169	0.54123	B	.;.;.	.;.;.	1.556052	0.19936	14.51	0.34461057037337817	0.02109	0.09655	0.15362	N	AEFDGBHCI	0.124825	0.24106	N	-0.308225844017886	0.28835	1.593802	-0.569217599681405	0.20298	1.092935	0.999999883386496	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	2.0	0.25495	1.486000	0.35138	.	.	0.565000	0.28586	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.8773:0.0:0.1227:0.0	6.594	0.21858	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	575.98	44	chr6	31356421	.	A	G	575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1090;ExcessHet=0.0000;FS=11.685;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=57.36;MQRankSum=0.678;QD=12.25;ReadPosRankSum=0.860;SOR=2.373	GT:AD:DP:GQ:PL	0/1:26,21:47:99:590,0,984	20	0	1	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70,0:70:99:1|1:31356747_GCC_G:3150,211,0,3150,211,3150:31356747	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:49,0,70:119:99:0|1:31356797_C_T:2782,2930,4973,0,2043,1832:31356797	0	5	0	0
chr6	31410618	31410618	T	G	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon2:c.T146G:p.V49G	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.012	B	0.009	B	0.665	N	1.000	N	-3.12	N	6.75	T	-0.985	T	0.000	T	0.241	-1.776	0.010	-2.26	-0.358	-0.737	2.599	0.078	.	0.0057	0.00698882	0.0022	0.0205	0.0004	0.0007	0.0012	0.0006	0.0011	0.0002	0.0020763	321	154602	rs17200158	0.0008	0.0008	0.0009	0.0007	0.0191	0.0008	0.0008	0.0178	0.0174	0.0191	0.0008	7.653e-05	0.0002	0.0013	0.0016	0.0003	0.0012	0.0001	0.0056	0.0056	0.0055	0.0056	0.0182	0.0052	0.0051	0.0172	0.0167	0.0182	0	0.0020	0	0.0002	0.0007	0.0068	0.0006	0.0057	0	1.0	0.35918	T	1.0	0.01155	T	0.012	0.16265	B	0.009	0.14300	B	0.665040	0.10393	N	0.771090	1	0.19363	N	.	.	.	6.75	0.00493	T	5.71	0.00019	N	0.148	0.15046	-0.9847	0.33903	T	0.000	0.00011	T	10	0.002904147	0.00047	T	.	.	.	0.078	0.22779	.	.	0.0297737177859	0.01360	0.5168620670879079	0.51609	0.140911219291	0.15895	0.341239184141	0.16623	T	0.018819	0.15105	T	-0.615122	0.00118	T	-0.64142	0.09565	T	0.00344233807832698	0.00036	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01668	B	.;.	.;.	-1.240388	0.00492	0.011	0.69367632553575986	0.08949	0.00043	0.00351	N	AEFDBI	0.024243	0.01470	N	-2.00030620287974	0.00211	0.009056648	-1.90259563111045	0.00484	0.02143707	0.96877145339347	0.29078	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.89	-2.26	0.06478	-0.378000	0.07503	.	.	-3.643000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2645:0.0:0.3426:0.3929	2.599	0.04565	934	0.15400	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	0.02381	3254.98	40	chr6	31410618	.	T	G	3254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=3147;ExcessHet=0.0000;FS=2.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.27;MQRankSum=-5.754e+00;QD=17.98;ReadPosRankSum=1.59;SOR=0.928	GT:AD:DP:GQ:PL	0/1:95,86:181:99:3269,0,3643	20	0	1	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:9,0,26:35:99:.:.:1053,1080,1458,0,378,299	10	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,9,26,0:35:99:.:.:1562,1093,1053,380,0,299,1518,1091,384,1510	2	2	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,36:127:99:0|1:31625601_T_C:841,0,3207:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,36,0:127:99:0|1:31625601_T_C:841,0,3207,1113,3313,4427:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999345	0.46733	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	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	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	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,36,0:127:99:0|1:31625601_T_C:841,0,3207,1113,3313,4427:31625601	0	0	18	2
chr6	32089372	32089372	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2366A:p.G789E	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	1165791	Cardiovascular_phenotype|Ehlers-Danlos_syndrome|not_provided	MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.7	T	1.0	D	1.0	D	.	.	1.000	N	0.55	N	0.4	T	-1.049	T	0.124	T	0.224	4.040	20.7	5.3	2.765	0.559	16.491	0.286	0.0145942807907	0.0002	0.000199681	0.0005	0	0.0009	0	0	0.0003	0.0031	0.0017	0.0003428	53	154602	rs367834992	0.0003	0.0003	0.0002	0.0003	0.0061	0.0002	0.0002	0.0045	0.0039	0.0001	0.0003	3.853e-05	0	1.977e-05	0.0061	0.0001	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.216e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0009	0.0010	0.081	0.33418	T	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.566953	0.31210	N	.	.	.	0.4	0.57261	T	-2.79	0.59059	D	0.536	0.56403	-1.0489	0.14705	T	0.124	0.42778	T	9	0.028067172	0.00944	T	0.014594	0.34806	T	0.286	0.60456	.	.	0.327946701059	0.32395	.	.	.	.	0.660463988781	0.61476	T	0.09056	0.38610	T	-0.444445	0.01218	T	-0.430205	0.29913	T	0.112639013446134	0.13695	T	0.777822	0.41150	T	0.25686014	0.48728	0.41285133	0.65475	0.26063287	0.49119	0.42123428	0.66062	-10.377	0.76137	D	0.12625993868028798	0.12714	0.114	0.22500	B	.;.;.	.;.;.	4.385162	0.67628	25.1	0.99795651901731497	0.88106	0.46322	0.27734	N	AEFBHI	0.243202	0.36452	N	0.191514843712535	0.50792	3.26588	0.21480015343165	0.50668	3.256501	0.999999963118828	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.3	5.3	0.74745	2.713000	0.46862	.	.	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	16.491	0.84046	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	584.98	43	chr6	32089372	.	C	T	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=-3.670e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:18,22:40:99:599,0,460	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/1:0,36,0,0,0:36:99:1567,109,0,1567,109,1567,1567,109,1567,1567,1567,109,1567,1567,1567	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/1:0,36,0,0,0:36:99:1567,109,0,1567,109,1567,1567,109,1567,1567,1567,109,1567,1567,1567	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	1/1:0,36,0,0,0:36:99:1567,109,0,1567,109,1567,1567,109,1567,1567,1567,109,1567,1567,1567	0	1	4	0
chr6	32519649	32519654	CAACTA	-	exonic	HLA-DRB5	.	nonframeshift deletion	HLA-DRB5:NM_002125:exon3:c.371_373del:p.V124del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.676e-05	0	0	0	0	4.812e-05	0	0	5.17e-05	8	154602	rs779212605	2.889e-05	0.0065	2.774e-05	3.001e-05	8.105e-05	1.759e-05	1.438e-05	1.397e-05	1.121e-05	8.105e-05	5.291e-05	0.0002	0	3.465e-05	0	2.606e-05	3.646e-05	0	0	0.0039	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	114.99	38	chr6	32519648	.	TCAACTA	T	114.99	.	AC=2;AF=0.063;AN=32;DP=509;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9357;MLEAC=1;MLEAF=0.031;MQ=31.93;QD=28.47;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:32519613_T_G:135,9,0:32519613	15	1	0	5
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,3:3:9:1|1:32519613_T_G:135,135,135,9,9,0:32519613	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,3:3:9:1|1:32519613_T_G:135,135,135,9,9,0:32519613	8	5	2	5
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:56,0,88:144:99:1|0:32521930_A_C:3527,3695,6047,0,2351,2087:32521930	9	0	2	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,79,0,0,0:136:99:1|0:32521930_A_C:3146,0,2156,3317,2393,5711,3317,2393,5711,5711,3317,2393,5711,5711,5711:32521930	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:57,0,79:136:99:1|0:32521930_A_C:3146,3317,5711,0,2393,2156:32521930	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,76,0,0:133:99:1|0:32521930_A_C:3020,0,2165,3191,2393,5585,3191,2393,5585,5585:32521930	4	5	4	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	754.62	135	chr6	32522104	.	G	T,*	754.62	.	AC=2,9;AF=0.053,0.237;AN=38;BaseQRankSum=1.88;DP=2410;ExcessHet=0.5777;FS=19.455;InbreedingCoeff=0.1270;MLEAC=2,10;MLEAF=0.053,0.263;MQ=43.31;MQRankSum=-5.040e-01;QD=1.10;ReadPosRankSum=-2.490e+00;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:11,0,20:31:99:0|1:32522086_T_C:807,840,1302,0,462,402:32522086	10	0	2	2
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,41,0,10,0:51:99:.:.:2141,420,296,2141,420,2141,1722,0,1722,1691,2141,420,2141,1722,2141	5	1	0	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	11250.32	146	chr6	32522157	.	C	G,*	11250.32	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=-1.800e-01;DP=2451;ExcessHet=0.0017;FS=0.000;InbreedingCoeff=0.5718;MLEAC=10,7;MLEAF=0.250,0.175;MQ=47.72;MQRankSum=-1.968e+00;QD=12.26;ReadPosRankSum=3.14;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,41,10:51:99:0|1:32522157_C_G:2141,420,296,1722,0,1691:32522157	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,10,41:51:99:0|1:32522157_C_G:2141,1722,1691,420,0,296:32522157	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,36:36:99:1|1:32530183_CTT_C:1559,1559,1559,108,108,0:32530183	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,36,0:36:99:1|1:32530183_CTT_C:1559,1559,1559,108,108,0,1559,1559,108,1559:32530183	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,36,0:36:99:1|1:32530183_CTT_C:1559,1559,1559,108,108,0,1559,1559,108,1559:32530183	0	1	0	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,179,0,0:214:99:0|1:32584162_G_T:7327,0,929,7432,1467,8899,7432,1467,8899,8899:32584162	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,185,33:218:99:0|1:32584162_G_T:9140,1385,997,7756,0,7657:32584162	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,185:218:99:1|1:32584162_G_T:8143,8155,8301,388,537,0:32584162	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,41,0,0:251:99:0|1:32584176_CCG_C:1088,0,8694,1720,8818,10538,1720,8818,10538,10538:32584176	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,41,0,0:251:99:0|1:32584176_CCG_C:1088,0,8694,1720,8818,10538,1720,8818,10538,10538:32584176	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,41,0:251:99:0|1:32584176_CCG_C:1088,0,8694,1720,8818,10538:32584176	10	0	5	1
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,324,0:324:99:1|1:32584353_C_A:14511,975,0,14511,975,14512:32584353	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,324,0,0:324:99:1|1:32584353_C_A:14511,975,0,14511,975,14512,14511,975,14512,14512:32584353	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,165,0:300:99:0|1:32584357_T_G:6505,0,5132,6911,5629,12540:32584357	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,149,122:271:99:0|1:32584366_C_T:11559,5132,4669,6262,0,5881:32584366	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,77:77:99:1|1:32641430_C_T:3465,3465,3465,232,232,0:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,77,0:77:99:1|1:32641430_C_T:3465,232,0,3465,232,3465:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,77:77:99:1|1:32641430_C_T:3455,3455,3455,232,232,0:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,77:77:99:1|1:32641430_C_T:3455,3455,3455,232,232,0:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,74,0:74:99:1|1:32641476_G_A:3330,3330,3330,223,223,0,3330,3330,223,3330:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	3|3:0,0,0,80:80:99:1|1:32641476_G_A:3425,3425,3425,3425,3425,3425,241,241,241,0:32641476	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	3|3:0,0,0,80:80:99:1|1:32641476_G_A:3425,3425,3425,3425,3425,3425,241,241,241,0:32641476	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,111,25:136:99:.:.:5670,1050,716,4620,0,4545	5	3	5	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L	.	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.97	D	0.100	U	0.722	N	2.475	M	8.26	T	-0.988	T	0.001	T	0.485	1.832	12.08	0.064	-0.130	-0.282	10.579	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.2143	7784.99	221	chr6	32664926	.	G	A	7784.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=5.16;DP=5217;ExcessHet=0.9430;FS=0.663;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=58.26;MQRankSum=-8.878e+00;QD=5.88;ReadPosRankSum=-3.053e+00;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,27:139:99:0|1:32664911_T_G:797,0,4622:32664911	13	1	7	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,42:42:99:1|1:32666523_G_C:1890,1890,1890,126,126,0:32666523	1	1	0	0
chr6	33007509	33007509	A	G	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon3:c.T415C:p.F139L,	.	.	427	1066	29	0	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	1.000	D	3.515	H	3.96	T	0.211	D	0.499	T	0.656	4.779	26.9	4.64	2.076	3.940	12.366	0.239	.	0.0009	0.00519169	0.0045	0.0002	0.0055	0.0015	0.0003	0.0028	0.0115	0.0155	0.0039197	606	154602	rs34987694	0.0028	0.0028	0.0022	0.0033	0.0163	0.0027	0.0026	0.0156	0.0153	0.0002	0.0052	0.0194	0.0007	0.0002	0.0104	0.0013	0.0050	0.0163	0.0024	0.0024	0.0022	0.0027	0.0141	0.0022	0.0022	0.0114	0.0104	0.0003	0	0.0052	0.0181	0.0004	9.418e-05	0.0102	0.0020	0.0033	0.0141	0.003	0.68238	D	0.01	0.65728	D	0.969	0.56768	D	0.721	0.54900	P	0.000039	0.55875	D	0.126169	0.999637	0.47961	D	3.17	0.88688	M	3.96	0.03354	T	-3.73	0.70920	D	0.557	0.58202	0.211	0.86088	D	0.499	0.81067	T	10	0.012116015	0.00262	T	.	.	.	0.239	0.54358	0.728	0.86198	0.21279746466	0.20884	0.5410917064688581	0.54034	0.972564744094	0.73426	0.453698754311	0.32450	T	0.209443	0.56966	T	-0.307338	0.07984	T	-0.201922	0.54464	T	0.0857759117301687	0.10708	T	.	.	.	0.5378518	0.69276	0.30170494	0.56203	0.5378518	0.69277	0.30170494	0.56202	-11.984	0.84773	D	.	.	0.965	0.88734	P	.	.	4.808168	0.78192	26.8	0.99867403067161387	0.94547	0.84875	0.43968	D	AEFDBHCI	0.812788	0.73543	D	0.505219025233158	0.67399	5.076327	0.47405946779811	0.66277	4.931049	0.999998788976186	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	5.771000	0.68535	.	.	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.366	0.54558	895	0.25842	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	0.02381	1523.98	79	chr6	33007509	.	A	G	1523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=1510;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-1.014e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:84,61:145:99:1538,0,2233	20	0	1	0
chr6	33085799	33085799	C	T	exonic	HLA-DPB1	.	nonsynonymous SNV	HLA-DPB1:NM_002121:exon4:c.C667T:p.R223W,	.	.	419	1097	5	1	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.874	P	0.992	N	0.802	D	1.61	L	6.01	T	-0.680	T	0.003	T	0.5	3.286	17.04	2.14	0.411	-0.114	5.081	0.104	0.0269647197492	0.0002	.	0.0002	0.0002	0	0.0001	0	0.0003	0	0	0.0001488	23	154602	rs142745911	6.704e-05	6.704e-05	5.446e-05	7.976e-05	0.0012	5.629e-05	5.172e-05	0.0006	0.0004	5.975e-05	0	0	0	0	0.0012	7.195e-05	9.936e-05	3.478e-05	3.944e-05	3.94e-05	5.14e-05	2.692e-05	4.83e-05	1.716e-05	1.13e-05	1.171e-05	6.25e-06	4.83e-05	0	0	0	0	0	0.0032	4.41e-05	0	0	0.0	0.91255	D	0.203	0.28764	T	0.997	0.70673	D	0.715	0.54683	P	0.991660	0.07906	N	1.004450	0.995256	0.23928	N	1.42	0.35681	L	6.01	0.00635	T	-1.97	0.53898	N	0.36	0.40164	-0.6798	0.61382	T	0.003	0.00961	T	10	0.090687186	0.15821	T	0.026965	0.49829	D	0.104	0.29647	.	.	0.512883945787	0.50929	0.5349733873381893	0.53422	1.43770971806	0.85914	0.186308205128	0.00167	T	0.041535	0.25890	T	-0.325755	0.06437	T	-0.426266	0.30360	T	0.1035309258559	0.12741	T	.	.	.	0.091748655	0.21506	0.110028096	0.26524	0.091748655	0.21506	0.110028096	0.26524	-5.988	0.46179	T	.	.	0.091	0.18456	B	.;.	.;.	2.854550	0.37700	20.6	0.99889604522134456	0.96359	0.09110	0.14931	N	AEFBHCI	0.267326	0.38406	N	-0.110918993362022	0.36918	2.140464	-0.279375003480411	0.28779	1.607224	0.999887738548008	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.03	2.14	0.26518	0.044000	0.13876	-3.554000	0.02700	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.833000	0.39279	0.2234:0.666:0.0:0.1106	5.081	0.13991	851	0.35303	.;.	.	.	.	.	.	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	0.02381	957.98	35	chr6	33085799	.	C	T	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1012;ExcessHet=0.0000;FS=3.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.158;SOR=1.032	GT:AD:DP:GQ:PL	0/1:43,36:79:99:972,0,1059	20	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y,	.	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.989	D	0.689	P	0.122	N	1.000	N	1.955	M	0.92	T	-1.083	T	0.084	T	0.095	1.449	10.79	1.02	0.363	0.133	6.729	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	840	0.37365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1396.98	40	chr6	36319517	.	G	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=912;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.209;SOR=0.767	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1411,0,2034	20	0	1	0
chr6	36721932	36721932	C	G	exonic	RAB44	.	nonsynonymous SNV	RAB44:NM_001257357:exon9:c.C1798G:p.P600A,	.	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0013	0	0	0	0	0.0023	0	0	0.0002911	45	154602	rs182774229	0.0012	0.0010	0.0012	0.0013	0.0178	0.0012	0.0012	0.0147	0.0135	0.0003	0.0026	0.0109	0.0001	9.283e-05	0.0178	0.0010	0.0020	0.0012	0.0015	0.0015	0.0015	0.0015	0.0036	0.0014	0.0013	0.0028	0.0026	0.0001	0	0.0036	0.0132	0	9.413e-05	0.0204	0.0016	0.0028	0.0012	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	0.999864	0.19989	N	.	.	.	.	.	.	.	.	.	0.075	0.04913	.	.	.	.	.	.	.	0.004042834	0.00079	T	.	.	.	.	.	.	.	0.229264304666	0.22521	0.18392118528505477	0.18311	.	.	0.374632537365	0.21493	T	.	.	.	-0.442541	0.01249	T	-0.427471	0.30222	T	.	.	.	0.441056	0.12198	T	0.04643101	0.07771	0.1107051	0.26697	0.04643101	0.07770	0.1107051	0.26696	-3.747	0.20015	T	.	.	0.07	0.03479	B	.	.	0.510146	0.08789	5.567	0.65339827941105966	0.07745	0.12107	0.17064	N	AEFDBCIJ	0.057254	0.10651	N	.	.	.	.	.	.	0.934946985627837	0.27192	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.079188	0.02158	0	.	.	4.59	3.71	0.41733	-0.476000	0.06671	-0.262000	0.10418	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.8939:0.0:0.1061	8.927	0.34806	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1133.98	37	chr6	36721932	.	C	G	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=1154;ExcessHet=0.0000;FS=2.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.93;ReadPosRankSum=-1.484e+00;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1148,0,737	20	0	1	0
chr6	38870507	38870507	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon48:c.A6284G:p.Q2095R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.026	B	0.022	B	0.000	D	1.000	D	2.015	M	2.28	T	-1.073	T	0.025	T	0.846	2.439	14.11	6.06	2.324	8.875	15.180	0.207	0.00994575803709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	.	.	.	0.026	0.19406	B	0.022	0.19653	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.555	0.39373	L	2.28	0.17271	T	-2.55	0.55181	D	0.604	0.68082	-1.0726	0.08851	T	0.025	0.10910	T	10	0.41469577	0.56461	T	0.009946	0.25901	T	0.207	0.49555	0.362	0.36711	0.331365685468	0.32749	0.7279065716836188	0.72734	0.136091878799	0.15346	0.436637997627	0.30117	T	0.03541	0.23707	T	0.113509	0.65713	D	-0.0747288	0.65288	T	0.804936110973358	0.46692	D	0.648035	0.25918	T	0.32781205	0.55291	0.23975126	0.49332	0.32781205	0.55291	0.23975126	0.49331	-10.423	0.76403	D	.	.	0.176	0.38498	B	.;.;.	.;.;.	2.456024	0.31631	18.80	0.98521906109391877	0.42471	0.99777	0.99392	D	AEFBI	0.931843	0.92129	D	0.0729878767430399	0.45206	2.781007	0.226833492481338	0.51341	3.317536	0.999992484922045	0.74766	0.625279	0.40028	0	0.588015	0.36545	0	0.547309	0.15389	0	0.59522	0.37078	0	.	.	6.06	6.06	0.98340	9.098000	0.93552	11.180000	0.88279	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	1.0:0.0:0.0:0.0	15.180	0.72635	550	0.72197	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	527.98	34	chr6	38870507	.	A	G	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=750;ExcessHet=0.0000;FS=1.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.495;SOR=0.973	GT:AD:DP:GQ:PL	0/1:24,20:44:99:542,0,551	20	0	1	0
chr6	41740500	41740500	C	T	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon6:c.G758A:p.G253D,	.	.	417	1080	24	1	0	26	0.0118939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.995	D	0.887	P	0.157	N	1.000	N	1.045	L	0.44	T	-0.996	T	0.100	T	0.359	1.138	9.639	2.17	0.229	-0.295	10.399	0.181	.	0.0021	0.00139776	0.0029	0.0004	0.0010	0.0001	0	0.0022	0.0146	0.0112	0.0024967	386	154602	rs146769097	0.0019	0.0019	0.0015	0.0022	0.0105	0.0018	0.0018	0.0099	0.0097	0.0001	0.0007	0.0081	5.078e-05	0	0.0068	0.0013	0.0026	0.0105	0.0014	0.0014	0.0013	0.0014	0.0068	0.0012	0.0012	0.0050	0.0044	0.0003	0	0.0012	0.0095	0	0	0.0034	0.0016	0.0024	0.0068	0.067	0.35918	T	0.61	0.07691	T	0.995	0.67487	D	0.887	0.62952	P	0.156595	0.17795	N	0.572523	1	0.08975	N	0.77	0.19370	N	0.44	0.56609	T	-1.77	0.41809	N	0.297	0.33578	-0.9958	0.31082	T	0.100	0.37290	T	10	0.008054823	0.00183	T	.	.	.	0.181	0.45247	.	.	0.468003879618	0.46428	0.612523108828657	0.61184	0.202384851127	0.22661	0.36427628994	0.20007	T	0.032225	0.22391	T	-0.478077	0.00759	T	-0.451539	0.27528	T	0.0154015321060609	0.00344	T	0.657934	0.26722	T	0.11558035	0.27272	0.12309866	0.29686	0.11558035	0.27272	0.12309866	0.29686	-7.998	0.61057	D	.	.	0.226	0.45750	B	.	.	1.557426	0.19955	14.52	0.98829675087421176	0.46936	0.10204	0.15775	N	AEFBCI	0.122361	0.23747	N	-0.656866268285708	0.17260	0.8866704	-0.79779014470838	0.14549	0.7607732	0.999771066895117	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.08	2.17	0.26736	-0.307000	0.08206	-0.457000	0.09062	-0.924000	0.02182	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4442:0.4811:0.0746	10.399	0.43404	579	0.69780	Peptidase family A1 domain|Peptidase family A1 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	0.02381	2029.98	33	chr6	41740500	.	C	T	2029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=883;ExcessHet=0.0000;FS=2.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-4.590e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:92,83:175:99:2044,0,2285	20	0	1	0
chr6	43051227	43051227	C	A	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon4:c.G1070T:p.R357L	3-M syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.208	B	0.103	B	0.996	N	1.000	N	1.495	L	-1.38	T	-0.829	T	0.200	T	0.326	0.120	4.648	1.09	-0.087	0.730	5.499	0.153	0.219033115059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.167	0.31629	T	0.208	0.29916	B	0.029	0.21540	B	0.996267	0.07996	N	0.998402	1	0.08975	N	2.215	0.62545	M	-1.4	0.80474	T	-2.44	0.53420	N	0.421	0.46086	-0.8287	0.53384	T	0.200	0.55598	T	10	0.2142477	0.37941	T	0.219033	0.87688	D	0.153	0.40148	0.232	0.16005	0.793195980341	0.79127	0.3288074231824844	0.32793	0.320051982411	0.34209	0.314044266939	0.12518	T	0.751342	0.93188	D	0.00379166	0.52177	T	-0.23233	0.51545	T	0.29691556096077	0.24876	T	0.763424	0.38984	T	0.22268812	0.44874	0.12873045	0.30965	0.22268812	0.44874	0.12873045	0.30964	-2.944	0.10376	T	.	.	0.107	0.24054	B	.;.	.;.	2.099902	0.26715	17.21	0.97532407625924844	0.34464	0.51851	0.28992	D	AEFDBI	0.362238	0.45156	N	-0.922484955551655	0.10317	0.4924519	-0.991189184756113	0.09983	0.4999309	0.999998487778161	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.02	1.09	0.19517	0.619000	0.24083	-0.958000	0.06789	-0.202000	0.08738	0.090000	0.22578	0.000000	0.08366	0.003000	0.05239	0.0:0.5072:0.2684:0.2245	5.499	0.16108	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1623.98	34	chr6	43051227	.	C	A	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=0.930;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1638,0,1163	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/1:52,23:75:55:55,0,1006	4	0	14	3
chr6	47595872	47595872	A	G	exonic	CD2AP	.	nonsynonymous SNV	CD2AP:NM_012120:exon12:c.A1120G:p.T374A,	Glomerulosclerosis, focal segmental, 3	.	39	1429	46	8	0	62	0.0212329	.	.	252386	Focal_segmental_glomerulosclerosis_3,_susceptibility_to|not_provided|Focal_segmental_glomerulosclerosis|not_specified	MONDO:MONDO:0011917,MedGen:C1842982,OMIM:607832,Orphanet:656|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.69	N	1.93	T	-1.024	T	0.005	T	0.012	-0.075	3.633	-5.18	-0.673	-1.282	2.300	0.064	.	0.0037	0.00459265	0.0051	0.0006	0.0038	0.0001	0.0005	0.0047	0.0066	0.0144	0.0047283	731	154602	rs138727736	0.0057	0.0057	0.0053	0.0061	0.0235	0.0056	0.0055	0.0203	0.0190	0.0010	0.0034	0.0038	2.522e-05	0.0008	0.0235	0.0054	0.0064	0.0162	0.0037	0.0037	0.0039	0.0034	0.0127	0.0034	0.0033	0.0101	0.0092	0.0010	0	0.0039	0.0026	0.0002	0.0007	0.0136	0.0054	0.0038	0.0127	0.734	0.03764	T	0.768	0.04507	T	0.0	0.02946	B	0.0	0.01387	B	0.000133	0.00470	N	5.281300	1	0.08975	N	0.49	0.13296	N	1.93	0.22881	T	0.47	0.03090	N	0.022	0.00372	-1.0238	0.22476	T	0.005	0.01725	T	10	0.0028515756	0.00045	T	.	.	.	0.064	0.18567	.	.	0.245697971988	0.24196	0.09908005909316141	0.09839	0.0698928327422	0.07831	0.252346724272	0.04019	T	0.120612	0.44298	T	-0.731755	0.00023	T	-0.812215	0.01616	T	0.00027371578009483	0.00002	T	0.411359	0.10665	T	0.016423263	0.00197	0.024621101	0.00485	0.016423263	0.00196	0.024621101	0.00485	-3.697	0.19274	T	0.05373193896517889	0.01103	0.059	0.00780	B	.	.	-0.668481	0.01395	0.081	0.40246728981911517	0.02828	0.01291	0.04495	N	AEFDBI	0.016615	0.00385	N	-1.54185372631042	0.01582	0.06915053	-1.48142600781234	0.02496	0.1149244	0.750263743479207	0.23348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	-5.18	0.02624	-1.211000	0.03106	-2.452000	0.03737	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.872000	0.41544	0.4573:0.1057:0.271:0.166	2.300	0.03904	518	0.74548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	1836.08	34	chr6	47595872	.	A	G	1836.08	.	AC=2;AF=0.048;AN=42;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.30;SOR=2.584	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1864,156,0	20	1	0	0
chr6	57100822	57100822	A	G	exonic	ZNF451	.	nonsynonymous SNV	ZNF451:NM_001257273:exon4:c.A406G:p.T136A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.001	B	.	.	1.000	D	0	N	-0.32	T	-1.084	T	0.050	T	0.049	2.319	13.71	1.36	0.144	0.098	4.204	0.041	0.00792690179597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.341	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-0.54	0.16598	N	0.074	0.04790	-1.0844	0.06517	T	0.050	0.21300	T	9	0.08043462	0.13055	T	0.007927	0.21033	T	0.041	0.10877	0.212	0.13066	0.384584525793	0.38071	.	.	.	.	.	.	.	.	.	.	-0.223807	0.17477	T	-0.559259	0.16447	T	0.113398691900786	0.13773	T	0.330167	0.06908	T	.	.	.	.	.	.	.	.	-4.016	0.24042	T	.	.	0.103	0.30022	B	.;.	.;.	1.767186	0.22475	15.63	0.99388317396371351	0.62202	0.54503	0.29632	D	AEFBCI	0.077446	0.15603	N	-0.571970491979564	0.19799	1.03911	-0.405652166820033	0.24830	1.361971	0.749028090443848	0.23330	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.508809	0.08732	0	.	.	5.14	1.36	0.21139	0.089000	0.14843	2.885000	0.35353	0.691000	0.84096	0.978000	0.35038	0.996000	0.32793	0.988000	0.63387	0.6433:0.1749:0.1818:0.0	4.204	0.09936	702	0.57624	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1257.98	38	chr6	57100822	.	A	G	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.642;SOR=0.634	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1272,0,1674	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:30,9,0:39:99:118,0,618,207,645,852	6	0	12	1
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	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	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,8,7:30:33:.:.:299,0,569,33,398,678	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:15,7,0,8:30:33:.:.:299,33,678,301,674,923,0,398,606,569	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:15,7,0,8:30:33:.:.:299,33,678,301,674,923,0,398,606,569	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,8,0:30:99:.:.:299,0,569,301,606,923	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,8,0:30:99:.:.:299,0,569,301,606,923	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,7,8,0:30:33:0|1:80007995_T_*:299,33,678,0,398,569,301,674,606,923:80007995	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,7,8,0:30:33:0|1:80007995_T_*:299,33,678,0,398,569,301,674,606,923:80007995	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,7,8,0:30:33:0|1:80007995_T_*:299,33,678,0,398,569,301,674,606,923:80007995	1	0	7	8
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2870.52	47	chr6	80007997	.	G	GCCCCCA	2870.52	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.779e+00;DP=993;ExcessHet=2.5830;FS=136.989;InbreedingCoeff=-0.2354;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=7.74;ReadPosRankSum=0.519;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:99:1|0:80007995_T_*:129,0,887:80007995	12	0	7	2
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/3:6,0,0,13:19:99:520,546,805,546,805,805,0,260,260,220	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	0/3:6,0,0,13:19:99:520,546,805,546,805,805,0,260,260,220	3	8	1	0
chr6	82216250	82216250	T	G	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon11:c.A1427C:p.E476A	.	.	463	1043	14	2	0	18	0.00855513	0.0164	0.122	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.554	P	0.123	B	0.059	N	0.786	D	0.805	L	1.89	T	-1.112	T	0.020	T	0.436	1.908	12.34	5.73	2.195	5.227	16.018	0.075	.	0.0008	0.000798722	0.0016	0.0003	0.0008	0	0	0.0015	0.0035	0.0048	0.0012742	197	154602	rs143498384	0.0010	0.0010	0.0008	0.0011	0.0084	0.0009	0.0009	0.0064	0.0058	0.0003	0.0011	0.0097	0	0	0.0084	0.0005	0.0017	0.0048	0.0008	0.0008	0.0007	0.0008	0.0037	0.0006	0.0006	0.0024	0.0020	7.222e-05	0	0.0012	0.0078	0	0	0.0034	0.0006	0.0033	0.0037	0.24	0.18498	T	0.386	0.15842	T	0.001	0.33029	B	0.002	0.32463	B	0.059488	0.22320	N	0.479141	0.786044	0.34327	D	1.175	0.29870	L	1.88	0.28002	T	-0.98	0.25986	N	0.348	0.38950	-1.1123	0.02879	T	0.020	0.08407	T	10	0.0040223897	0.00078	T	0.008438	0.22332	T	0.075	0.21907	.	.	0.369898441341	0.36605	0.36190664158538977	0.36104	0.168391200897	0.18989	0.409244835377	0.26353	T	0.129077	0.45714	T	-0.426166	0.01564	T	-0.384531	0.35191	T	0.0112945976716223	0.00167	T	.	.	.	0.12573859	0.29469	0.07477869	0.16393	0.12573859	0.29469	0.07477869	0.16393	-4.384	0.29339	T	.	.	0.149	0.32922	B	.;.;.;.	.;.;.;.	3.688612	0.52538	23.2	0.97447182380381214	0.34012	0.99186	0.92499	D	AEFBI	0.607743	0.59759	D	-0.112986528758554	0.36827	2.133994	0.0938707121093076	0.44239	2.709571	0.997823886642293	0.36074	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	5.224000	0.65119	7.423000	0.58731	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	16.018	0.80257	867	0.32089	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.98	35	chr6	82216250	.	T	G	681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=726;ExcessHet=0.0000;FS=1.221;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=2.04;SOR=1.038	GT:AD:DP:GQ:PL	0/1:22,24:46:99:696,0,568	20	0	1	0
chr6	83191208	83191208	G	A	exonic	PGM3	.	stopgain	PGM3:NM_001199917:exon2:c.C61T:p.Q21X	Immunodeficiency 23, Autosomal recessive	YES	0	225	1	0	0	1	0.00221729	.	.	1060913	PGM3-related_disorder|not_provided|Immunodeficiency_23	.|MedGen:C3661900|MONDO:MONDO:0014353,MedGen:C4014371,OMIM:615816,Orphanet:443811	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	1.966	12.53	0.641	0.112	-0.103	5.926	.	.	.	.	8.881e-05	0	0	0	0	0.0003	0	0	1.29e-05	2	154602	rs753019951	2.604e-05	2.463e-05	3.427e-05	1.759e-05	0.0004	1.906e-05	1.692e-05	6.163e-05	2.548e-05	0	5.602e-05	0.0002	0	0	0.0004	2.412e-05	3.456e-05	0	2.632e-05	2.627e-05	2.572e-05	2.695e-05	6.551e-05	8.15e-06	5.15e-06	.	.	0	0	6.551e-05	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.474	0.50958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.206119	0.19930	T	-0.338217	0.40546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	0.134315	0.05294	1.788	0.98311393629684474	0.40144	0.07020	0.13047	N	AEFDGBCI	0.030805	0.03169	N	-0.0400992814840478	0.40046	2.371584	-0.445766089167176	0.23669	1.291985	0.999858373543403	0.44174	0.608746	0.35421	0	0.627608	0.54475	0	0.408882	0.06424	0	0.605231	0.38476	0	.	.	3.47	0.641	0.16930	-0.098000	0.10993	0.693000	0.20782	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3551:0.0:0.6449:0.0	5.926	0.18352	713	0.56348	.;.;.	.	.	.	.	.	Likely pathogenic	1	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	0.02381	888.98	33	chr6	83191208	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=805;ExcessHet=0.0000;FS=4.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.649;SOR=0.434	GT:AD:DP:GQ:PL	0/1:46,35:81:99:903,0,1265	20	0	1	0
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q	.	.	586	928	7	1	0	9	0.00482574	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.055	B	0.008	B	0.738	N	1.000	N	0.97	L	1.49	T	-0.948	T	0.016	T	0.046	1.093	9.461	0.592	0.091	-1.177	5.636	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2041.11	34	chr6	84171654	.	C	T	2041.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.400e-02;DP=830;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=0.502;SOR=0.695	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1085,0,882	19	0	2	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	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	.	.	.	.	.	.	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	1	0	0	0	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,18:52:79:.:.:79,0,488	6	0	13	2
chr6	87477478	87477478	A	G	exonic	SLC35A1	.	nonsynonymous SNV	SLC35A1:NM_001168398:exon2:c.A133G:p.T45A	Congenital disorder of glycosylation, type IIf, Autosomal recessive	YES	1	1511	10	0	0	10	0.00329815	.	.	301212	not_specified|SLC35A1-related_disorder|SLC35A1-congenital_disorder_of_glycosylation|not_provided	MedGen:CN169374|.|MONDO:MONDO:0011342,MedGen:C1970344,OMIM:603585,Orphanet:238459|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.953	D	0.000	U	1.000	D	2.93	M	0.97	T	-0.425	T	0.250	T	0.892	4.928	28.5	5.62	2.136	7.508	15.832	0.540	0.0326612292779	0.0035	0.00119808	0.0028	0.0004	0.0008	0	0.0045	0.0040	0.0011	0.0015	0.0027943	432	154602	rs145006535	0.0036	0.0036	0.0036	0.0035	0.0040	0.0035	0.0035	0.0039	0.0039	0.0006	0.0010	0.0010	0	0.0048	0.0016	0.0040	0.0032	0.0018	0.0025	0.0025	0.0024	0.0026	0.0041	0.0023	0.0022	0.0037	0.0035	0.0006	0.0154	0.0013	0.0023	0	0.0028	0	0.0041	0.0024	0.0008	0.005	0.68238	D	0.014	0.66756	D	0.997	0.70673	D	0.849	0.60615	P	0.000000	0.84330	U	0.000000	1	0.81001	D	2.79	0.81396	M	0.97	0.42502	T	-2.79	0.60982	D	0.736	0.77132	-0.4255	0.71213	T	0.250	0.61946	T	10	0.014591694	0.00307	T	0.032661	0.54424	D	0.540	0.80782	.	.	0.669058721763	0.66626	0.41167186885854895	0.41083	0.33965915445	0.35915	0.641223311424	0.58737	T	0.489453	0.86259	T	-0.0692385	0.41448	T	0.128583	0.78799	D	0.037991445227548	0.03331	T	0.921908	0.79334	D	0.4921462	0.66631	0.49747592	0.70942	0.49817705	0.66989	0.46913233	0.69210	-6.967	0.53792	T	0.4432579889255138	0.52839	0.476	0.63481	A	.;.;.;.	.;.;.;.	3.788783	0.54517	23.5	0.99808159561152143	0.89264	0.98559	0.84088	D	AEFBI	0.912368	0.87290	D	0.848798447708377	0.89040	9.810794	0.810342641673003	0.90504	10.43721	0.999999753741063	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	7.494000	0.80344	5.240000	0.48059	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.832	0.78534	819	0.41190	.;.;.;.	.	.	.	.	.	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	0.02381	757.98	33	chr6	87477478	.	A	G	757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=758;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.66;ReadPosRankSum=0.020;SOR=0.780	GT:AD:DP:GQ:PL	0/1:35,30:65:99:772,0,757	20	0	1	0
chr6	89715728	89715728	C	T	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon45:c.G6785A:p.G2262E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.382	B	0.444	B	0.000	D	1.000	D	1.12	L	0.62	T	-1.035	T	0.103	T	0.755	3.801	19.30	5.51	2.736	4.527	19.782	0.236	0.0184786797458	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.057e-05	1.29e-05	2	154602	rs755548910	2.052e-06	2.052e-06	0	4.126e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	.	.	.	0.382	0.34403	B	0.444	0.45865	B	0.000020	0.62929	D	0.116355	0.999999	0.58761	D	1.07	0.27075	L	0.62	0.53302	T	-4.15	0.75297	D	0.652	0.66873	-1.0353	0.18762	T	0.103	0.37894	T	10	0.44189614	0.58154	T	0.018479	0.40558	T	0.236	0.53931	0.472	0.54699	0.355939216326	0.35206	0.6353287957040321	0.63466	0.725514030522	0.62459	0.679958999157	0.64262	T	0.060016	0.31273	T	0.0112531	0.53195	T	-0.124758	0.61411	T	0.902304828166962	0.55523	D	0.960604	0.85218	D	0.4182326	0.61974	0.4909089	0.70548	0.4182326	0.61975	0.4909089	0.70549	-5.148	0.38408	T	.	.	0.145	0.32005	B	.;.	.;.	4.024691	0.59468	24.1	0.99619156527580666	0.75293	0.99035	0.90275	D	AEFBI	0.580789	0.58106	D	0.228441920671358	0.52581	3.431414	0.362777333722991	0.59280	4.104595	0.999983903005647	0.51787	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.674467	0.66132	0	.	.	5.51	5.51	0.81769	4.586000	0.60695	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.782	0.96414	803	0.44167	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1061.98	33	chr6	89715728	.	C	T	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.135;DP=749;ExcessHet=0.0000;FS=0.960;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=0.347;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1076,0,532	20	0	1	0
chr6	89790292	89790292	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon6:c.A965G:p.Q322R,	.	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.344	B	0.053	B	0.000	D	0.983	D	1.5	L	1.24	T	-1.104	T	0.028	T	0.214	1.882	12.25	3.76	1.857	5.157	9.936	0.066	0.0118854708636	7.7e-05	.	8.237e-05	0	0	0	0	0.0001	0.0011	0.0001	6.47e-05	10	154602	rs151070753	8.277e-05	8.277e-05	6.125e-05	0.0001	0.0003	7.069e-05	6.618e-05	0.0002	0.0002	2.987e-05	6.708e-05	3.826e-05	0	0	0.0002	5.935e-05	0.0003	0.0003	0.0001	0.0001	5.143e-05	0.0002	0.0011	9.154e-05	7.709e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	5.881e-05	0	0	0.406	0.10278	T	0.853	0.03477	T	0.001	0.07471	B	0.005	0.11217	B	0.000016	0.62929	D	0.070788	0.982954	0.39954	D	2.14	0.59869	M	1.24	0.36691	T	-1.48	0.41618	N	0.137	0.17278	-1.1039	0.03651	T	0.028	0.12103	T	10	0.099221736	0.17992	T	0.011885	0.29939	T	0.066	0.19193	.	.	0.487027601959	0.48335	0.6367460417158235	0.63608	0.166143637461	0.18748	0.542653203011	0.44820	T	0.005313	0.04761	T	-0.373318	0.03430	T	-0.463504	0.26218	T	0.0275210347026587	0.01619	T	0.727827	0.34232	T	0.24838108	0.47824	0.15474996	0.36305	0.24838108	0.47824	0.15474996	0.36304	-4.832	0.34962	T	.	.	0.062	0.09578	B	.;.;.	.;.;.	2.573371	0.33351	19.31	0.97529406413709108	0.34448	0.95655	0.65597	D	AEFGBI	0.376318	0.46051	N	-0.110411095325997	0.36939	2.142039	0.0401841377285973	0.41599	2.501973	0.986972796152442	0.31161	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.91	3.76	0.42368	5.141000	0.64655	1.534000	0.27180	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0798:0.0:0.9202	9.936	0.40724	576	0.70006	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1737.98	42	chr6	89790292	.	T	C	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.278e+00;DP=865;ExcessHet=0.0000;FS=2.096;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-1.012e+00;SOR=0.576	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1752,0,1969	20	0	1	0
chr6	98917691	98917691	T	C	exonic	FBXL4	.	nonsynonymous SNV	FBXL4:NM_012160:exon4:c.A541G:p.T181A	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), Autosomal recessive	.	434	1084	4	0	0	4	0.00184162	.	.	431286	Mitochondrial_DNA_depletion_syndrome_13|not_provided	MONDO:MONDO:0014198,MedGen:C3809592,OMIM:615471,Orphanet:369897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.012	B	0.014	B	0.000	D	0.984	D	2.045	M	2.48	T	-1.035	T	0.013	T	0.238	2.082	12.92	4.62	1.011	2.066	7.151	0.085	0.00863604743376	0.0005	0.000199681	0.0003	9.854e-05	0	0	0	0.0004	0.0011	0.0002	0.0003299	51	154602	rs150748757	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0004	0.0004	3.007e-05	0.0002	0	0	0	0.0007	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0005	0	0.158	0.23905	T	0.724	0.05274	T	0.012	0.16265	B	0.014	0.16862	B	0.000059	0.53742	D	0.196579	0.983628	0.40038	D	1.645	0.42016	L	2.48	0.14657	T	-0.87	0.23590	N	0.218	0.24385	-1.0346	0.18983	T	0.013	0.05081	T	10	0.04286036	0.03077	T	0.008636	0.22829	T	0.085	0.24743	.	.	0.317958651998	0.31400	0.4082635653709491	0.40742	0.0698128753947	0.07817	0.378134071827	0.21991	T	0.028199	0.20479	T	-0.461516	0.00962	T	-0.548993	0.17422	T	0.0127827912111968	0.00217	T	0.623938	0.24053	T	0.07017651	0.15436	0.07206919	0.15505	0.07017651	0.15436	0.07206919	0.15505	-4.288	0.28008	T	0.15105064295786647	0.17790	0.059	0.00754	B	.;.	.;.	2.152013	0.27411	17.45	0.9790374715360266	0.36759	0.92568	0.56018	D	AEFBI	0.439729	0.49858	N	-0.235118965289702	0.31702	1.780256	-0.0764354541512263	0.36367	2.115504	0.0279721304378292	0.13805	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.78	4.62	0.56946	2.052000	0.40941	2.925000	0.35585	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1312:0.072:0.0:0.7968	7.151	0.24786	848	0.35897	.;.	.	.	.	.	.	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	0.02381	610.98	34	chr6	98917691	.	T	C	610.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.221e+00;SOR=0.518	GT:AD:DP:GQ:PL	0/1:22,22:44:99:625,0,565	20	0	1	0
chr6	100646715	100646715	T	C	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_006828:exon22:c.A3533G:p.Q1178R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.056	B	0.081	B	0.000	D	1.000	D	1.065	L	0.23	T	-1.023	T	0.091	T	0.782	2.958	15.86	5.53	2.095	7.996	15.659	0.219	0.0176439086055	.	.	3.303e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs750261074	2.805e-05	2.805e-05	1.361e-05	4.263e-05	0.0004	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0	1.799e-06	4.967e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.318	0.19246	T	0.056	0.22806	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	0.69	0.16971	N	0.23	0.59717	T	-2.03	0.46673	N	0.693	0.69825	-1.0226	0.22866	T	0.091	0.34710	T	10	0.3500892	0.51888	T	0.017644	0.39418	T	0.219	0.51417	0.474	0.55020	0.319686207203	0.31575	0.8321157627309151	0.83170	0.371353621194	0.38636	0.700052261353	0.67151	T	0.018989	0.15211	T	-0.0936269	0.37477	T	-0.0295341	0.68399	D	0.198202770242361	0.20316	T	0.835117	0.50455	T	0.3935672	0.60284	0.3685095	0.62139	0.3935672	0.60285	0.3685095	0.62139	-9.091	0.68280	D	.	.	0.254	0.48877	B	.	.	3.522749	0.49391	22.8	0.99512571789519677	0.68739	0.98122	0.79786	D	AEFGBI	0.871638	0.79314	D	0.0719932654957536	0.45158	2.777203	0.265565902299237	0.53539	3.522413	0.999999896846628	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.966000	0.87508	6.178000	0.54590	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.659	0.76924	884	0.28482	Sec63 domain|Sec63 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	654.98	39	chr6	100646715	.	T	C	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.196e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.78;ReadPosRankSum=-1.030e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,32:67:99:669,0,901	20	0	1	0
chr6	110456761	110456761	T	C	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.A310G:p.N104D,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.008	B	0.008	B	0.006	N	1.000	N	0	N	1.48	T	-1.069	T	0.048	T	0.04	1.077	9.397	0.763	-0.119	0.868	5.776	0.038	.	.	0.00738818	0.0038	0	8.639e-05	0	0	0	0.0022	0.0280	0.0033958	525	154602	rs200263837	0.0016	0.0016	0.0009	0.0023	0.0257	0.0016	0.0015	0.0249	0.0245	5.974e-05	2.236e-05	0	5.038e-05	0	0.0012	1.439e-05	0.0017	0.0257	0.0009	0.0009	0.0004	0.0013	0.0273	0.0008	0.0007	0.0235	0.0221	0	0	6.538e-05	0	0	0	0	0	0	0.0273	0.212	0.20381	T	0.207	0.27056	T	0.005	0.14655	B	0.004	0.13708	B	0.006163	0.01113	N	5.254820	1	0.08975	N	0	0.06538	N	-0.04	0.63240	T	-0.58	0.22294	N	0.121	0.21449	-1.0687	0.09701	T	0.048	0.20395	T	10	0.0029841661	0.00049	T	.	.	.	0.038	0.09825	0.36	0.36385	0.213573922156	0.20996	0.5289545914735869	0.52819	0.0154150590524	0.01471	0.303937673569	0.10991	T	0.02424	0.18353	T	-0.632934	0.00092	T	-0.662346	0.08108	T	0.0184367964067303	0.00560	T	0.565243	0.19970	T	0.07001998	0.15388	0.047940005	0.07016	0.07001998	0.15388	0.047940005	0.07016	-3.575	0.17496	T	.	.	0.155	0.34405	B	.;.;.;.;.	.;.;.;.;.	0.203021	0.05874	2.316	0.93440783683806394	0.23218	0.04077	0.09534	N	AEFGBI	0.053991	0.09777	N	-1.0676759614658	0.07245	0.3359881	-1.07346999071854	0.08225	0.4034778	0.0209939263290338	0.13310	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.59	0.763	0.17606	0.878000	0.27770	0.813000	0.21772	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.542:0.2674:0.0:0.1906	5.776	0.17547	493	0.76500	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	0.02381	2878.98	33	chr6	110456761	.	T	C	2878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.660e-01;DP=1856;ExcessHet=0.0000;FS=2.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-6.880e-01;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,119:248:99:1|0:110456759_A_G:2893,0,4968:110456759	20	0	1	0
chr6	111263889	111263889	A	G	exonic	MFSD4B	.	nonsynonymous SNV	MFSD4B:NM_153369:exon3:c.A256G:p.I86V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.001	B	0.275	N	1.000	N	-0.425	N	0.42	T	-0.986	T	0.017	T	0.009	-2.243	0.004	1.37	0.347	-0.488	1.661	0.044	0.00416772821479	0.0002	0.000199681	0.0004	9.61e-05	8.637e-05	0.0001	0	0.0002	0	0.0018	0.0002975	46	154602	rs145184768	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0.0003	6.719e-05	0	0	0	0.0007	4.411e-05	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0.0003	0	0	0	0	0	0	0.0001	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.274916	0.15056	N	0.691023	1	0.08975	N	.	.	.	0.42	0.56937	T	0.1	0.05810	N	0.045	0.01740	-0.9859	0.33615	T	0.017	0.06902	T	10	0.0061008334	0.00137	T	0.004168	0.10026	T	0.044	0.11924	.	.	0.110078149338	0.10416	0.1623742811279017	0.16157	0.0644950670279	0.07196	0.259686589241	0.04854	T	0.051431	0.28876	T	-0.683408	0.00046	T	-0.761708	0.03051	T	0.0171480275599229	0.00460	T	0.232977	0.03169	T	0.035510525	0.04193	0.026533177	0.00748	0.035510525	0.04193	0.026533177	0.00748	-2.782	0.08018	T	.	.	.	.	.	.	.	-0.278095	0.02716	0.357	0.46290588996522047	0.03697	0.02907	0.07706	N	AEDGBHCIJ	0.037722	0.05230	N	-1.30656373547751	0.03600	0.1610674	-1.23502623861267	0.05356	0.2550039	0.999999999839461	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.463824	0.07026	1	.	.	5.8	1.37	0.21200	-0.444000	0.06926	-1.584000	0.05119	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.317:0.1426:0.4041:0.1363	1.661	0.02623	631	0.64944	Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1333.98	36	chr6	111263889	.	A	G	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.178;DP=796;ExcessHet=0.0000;FS=5.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-8.900e-02;SOR=0.350	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1348,0,1607	20	0	1	0
chr6	149378579	149378579	C	T	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.C664T:p.P222S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.608	P	0.098	B	0.000	D	1.000	D	0.06	N	-0.72	T	-0.860	T	0.102	T	0.472	0.267	5.446	5.5	2.584	5.305	19.387	0.259	0.025081169738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.273	0.22154	T	0.608	0.39540	P	0.098	0.30479	B	0.000005	0.62929	D	0.111756	0.999528	0.47407	D	0.695	0.17993	N	-0.73	0.73100	T	-0.65	0.18877	N	0.407	0.44761	-0.8604	0.51234	T	0.102	0.37768	T	10	0.24907327	0.42214	T	0.025081	0.48061	D	0.259	0.57090	0.33	0.31519	0.441518658318	0.43770	0.13569958080695674	0.13493	0.317607766921	0.34000	0.606817901134	0.53866	T	0.157821	0.50058	T	0.011091	0.53175	T	-0.221845	0.52560	T	0.362615168094635	0.27511	T	0.864814	0.56255	D	0.06484723	0.13799	0.11935702	0.28810	0.06484723	0.13799	0.11935702	0.28810	-3.202	0.12505	T	0.17470558111144455	0.22202	0.067	0.02894	B	.;.;.	.;.;.	2.144452	0.27310	17.42	0.91044826223881903	0.20296	0.96302	0.68477	D	AEFGBI	.	.	.	-0.0848130326801947	0.38057	2.223292	0.0863139490010132	0.43857	2.678998	0.999979799015855	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	5.378000	0.65942	6.126000	0.53851	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.387	0.94553	761	0.50382	.;.;.	.	.	.	.	.	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	0.04762	6029.08	33	chr6	149378579	.	C	T	6029.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1150;ExcessHet=0.0000;FS=3.032;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=32.07;ReadPosRankSum=1.46;SOR=0.110	GT:AD:DP:GQ:PL	1/1:2,186:188:99:6057,544,0	20	1	0	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.005	B	0.013	B	0.325	N	1.000	D	0	N	1.38	T	-0.982	T	0.014	T	0.053	0.267	5.442	0.886	-0.126	1.362	6.318	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	718.73	89	chr6	152331115	.	C	G	718.73	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-4.924e+00;DP=3151;ExcessHet=1.7912;FS=264.883;InbreedingCoeff=-0.2612;MLEAC=7;MLEAF=0.233;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=1.87;SOR=10.735	GT:AD:DP:GQ:PL	0/1:93,31:124:46:46,0,2146	9	0	6	6
chr6	154406549	154406549	C	G	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368117:exon13:c.G1385C:p.G462A,	.	.	436	1075	10	1	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0003	0.0002	0	0	0	4.495e-05	0.0022	0.0016	0.0002523	39	154602	rs371630299	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0002	0.0013	0.0012	8.961e-05	4.472e-05	0	0	0	0.0023	8.813e-05	0.0003	0.0015	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	0.0002	0	0	0	0	0	0.0034	0.0001	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	1	0.02381	1587.98	33	chr6	154406549	.	C	G	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.937;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.025;SOR=0.720	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1602,0,1513	20	0	1	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:32,0,18:50:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:591,688,2010,0,1322,1265:167976249	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:32,0,18:50:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:591,688,2010,0,1322,1265:167976249	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,18,0:50:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:591,0,1265,688,1322,2010:167976249	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:32,0,18:50:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:591,688,2010,0,1322,1265:167976249	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:32,0,18:50:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:591,688,2010,0,1322,1265:167976249	12	0	2	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,24,0:54:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:846,0,1160,936,1232,2168:167976249	9	3	3	5
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50,0:50:99:1|1:170561949_GCAA_G:1922,154,0,1923,154,1923:170561949	1	15	4	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,42,0,0:75:99:0|1:170561949_GCAA_G:1314,0,1005,1395,1115,3328,1395,1115,3328,3328:170561949	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:45,0,33:78:99:.:.:836,822,2430,0,1559,1421	1	1	3	2
chr7	193399	193399	C	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon1:c.C200A:p.P67H,	Raine syndrome, Autosomal recessive	.	8	1490	23	1	0	25	0.00831947	.	.	274985	FAM20C-related_disorder|not_provided|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.838	P	0.339	B	0.476	U	1.000	N	1.445	L	-2.33	D	-0.347	T	0.505	D	0.27	1.315	10.31	2.87	1.931	1.202	9.426	0.195	.	.	0.00119808	0.0043	0	0.0122	0	0	0.0005	0	0.0057	0.0003687	57	154602	rs538469200	0.0009	0.0009	0.0008	0.0011	0.0062	0.0009	0.0009	0.0057	0.0055	0.0002	0.0007	0.0005	0	0	0.0055	0.0007	0.0013	0.0062	0.0006	0.0006	0.0005	0.0007	0.0060	0.0005	0.0005	0.0043	0.0037	2.417e-05	0	0.0002	0	0	0.0001	0	0.0008	0.0005	0.0060	0.003	0.68238	D	0.004	0.74150	D	0.838	0.46404	P	0.339	0.42346	B	0.475723	0.12224	U	0.629044	1	0.08975	N	.	.	.	-2.33	0.87910	D	-1.74	0.41239	N	0.077	0.05162	-0.3468	0.73646	T	0.505	0.81353	D	10	0.0064647794	0.00146	T	.	.	.	0.195	0.47612	.	.	0.184605227958	0.18053	0.5066125202444535	0.50583	1.01481861233	0.74903	0.86919093132	0.92453	D	0.006706	0.06137	T	-0.340585	0.05347	T	-0.259253	0.48899	T	0.0348755269498303	0.02787	T	0.408959	0.10549	T	0.18811204	0.40296	0.17135891	0.39312	0.18811204	0.40296	0.17135891	0.39312	-5.62	0.42975	T	.	.	0.104	0.18828	B	.	.	3.137205	0.42413	21.5	0.9853014225545792	0.42582	0.53231	0.29321	D	AEFDGBCI	0.081821	0.16561	N	-0.0941850455632063	0.37647	2.193307	-0.180500173733775	0.32254	1.833197	0.999999521622467	0.74766	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.375	0.06713	1	.	.	2.87	2.87	0.32523	-0.674000	0.05333	3.066000	0.36180	0.496000	0.22519	0.000000	0.06391	0.054000	0.21897	0.208000	0.22126	0.0:1.0:0.0:0.0	9.426	0.37744	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	0	0	1	0	0.02381	383.98	20	chr7	193399	.	C	A	383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.124;DP=710;ExcessHet=0.0000;FS=2.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=-1.200e-01;SOR=0.537	GT:AD:DP:GQ:PL	0/1:23,15:38:99:398,0,672	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,6:15:60:.:.:60,0,117	5	0	14	2
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q,	.	.	431	1056	34	1	0	36	0.0167598	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.039	B	0.002	B	.	.	1.000	N	.	.	-2.08	D	-0.518	T	0.367	T	0.044	1.655	11.49	2.12	1.477	-0.994	7.776	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	548.98	33	chr7	2814361	.	C	T	548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.028e+00;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-1.521e+00;SOR=0.720	GT:AD:DP:GQ:PL	0/1:27,25:52:99:563,0,665	20	0	1	0
chr7	4783771	4783773	CTT	-	exonic	AP5Z1	.	nonframeshift deletion	AP5Z1:NM_001364858:exon4:c.126_128del:p.F44del	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	683902	Hereditary_spastic_paraplegia_48	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0	0	0	0	0.0012	0	0	3.84e-05	1	26028	rs759357796	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	9.643e-05	0.0004	0.0003	0	0	0.0029	0.0006	0	0	5.282e-05	0.0002	6.308e-05	0.0001	0.0001	0.0001	6.713e-05	0.0006	6.506e-05	5.318e-05	0.0002	8.985e-05	0	0	0	0.0023	0.0004	0	0	4.411e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	168.94	31	chr7	4783770	.	GCTT	G	168.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=663;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-1.889e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:9,5:14:99:183,0,363	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30,0:30:90:.:.:1006,90,0,1006,90,1006	0	6	14	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:15,8,0,0,0,0,0:23:99:291,0,544,336,569,905,336,569,905,905,336,569,905,905,905,336,569,905,905,905,905,336,569,905,905,905,905,905	1	3	5	0
chr7	11831855	11831855	-	GCAGCG	exonic	THSD7A	.	nonframeshift insertion	THSD7A:NM_015204:exon1:c.91_92insCGCTGC:p.L34_L35insPL,	.	.	413	987	26	4	92	126	0.0169323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5652.12	34	chr7	11831843	.	AGCAGCGGCAGCG	A,AGCAGCGGCAGCGGCAGCG	5652.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.293;DP=1040;ExcessHet=0.6776;FS=3.536;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=0.114;SOR=0.537	GT:AD:DP:GQ:PL	0/1:20,18,0:38:99:697,0,731,757,787,1544	17	0	3	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,121,0:121:99:.:.:4242,363,0,4242,363,4242	0	18	1	0
chr7	36674011	36674011	T	G	splicing	AOAH	NM_001177507:exon2:c.128-2A>C;NM_001637:exon3:c.224-2A>C;NM_001177506:exon3:c.224-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.535	18.04	5.14	2.284	3.311	11.523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288954	0.82070	D	0.177286	0.81839	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.030403	0.83658	28.1	0.98990694224996933	0.49943	0.82477	0.41699	D	AEDBCI	.	.	.	0.998726036483732	0.95703	13.88108	0.836517513307693	0.92204	11.29384	0.999990445450825	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.963775	0.67378	5.14	5.14	0.70008	3.281000	0.51389	7.609000	0.61840	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	11.523	0.49812	931	0.16308	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	987.98	33	chr7	36674011	.	T	G	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.302;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-9.870e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1002,0,816	20	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.013	B	0.006	B	0.033	N	1.000	D	0.205	N	-0.19	T	-1.042	T	0.109	T	0.182	2.035	12.76	3.72	0.900	6.175	12.521	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	462.95	111	chr7	43624718	.	C	G	462.95	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.585e+00;DP=2195;ExcessHet=2.5830;FS=236.492;InbreedingCoeff=-0.2524;MLEAC=7;MLEAF=0.184;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.806;SOR=12.602	GT:AD:DP:GQ:PL	0/1:68,19:95:11:11,0,1306	12	0	7	2
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,59,0:112:99:.:.:1416,0,1401,1575,1576,3151	8	5	7	0
chr7	44539148	44539148	G	A	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.C1249T:p.R417W	.	.	425	1089	8	0	0	8	0.00365965	.	.	3191555	NPC1L1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.855	P	0.000	D	1.000	N	2.48	M	-2.4	D	0.147	D	0.761	D	0.827	2.363	13.86	3.13	0.443	2.457	11.552	0.600	0.146625606804	0.0012	0.000199681	0.0013	9.623e-05	0.0003	0	0.0003	0.0019	0.0011	0.0012	0.0011449	177	154602	rs139659653	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0012	0.0011	0.0011	0.0001	0.0007	0.0118	0	0.0001	0.0019	0.0012	0.0015	0.0010	0.0010	0.0010	0.0010	0.0010	0.0015	0.0008	0.0008	0.0010	0.0009	0.0001	0	0.0005	0.0121	0.0002	9.427e-05	0	0.0012	0.0009	0.0015	0.104	0.46129	T	0.002	0.83351	D	0.999	0.77913	D	0.855	0.60933	P	0.000096	0.51296	D	0.125811	0.999984	0.19238	N	2.97	0.85306	M	-2.4	0.88455	D	-2.92	0.66325	D	0.549	0.58373	0.147	0.85004	D	0.761	0.91876	D	10	0.010629088	0.00236	T	0.146626	0.82873	D	0.600	0.84183	.	.	0.935226504704	0.93455	0.7446716218337328	0.74413	0.517787163206	0.49640	0.248774603009	0.03639	T	0.228255	0.59376	T	-0.0594518	0.42992	T	0.101292	0.76994	D	0.106556107136096	0.13063	T	0.931907	0.74605	D	0.114302084	0.26985	0.0862351	0.19965	0.114302084	0.26985	0.0862351	0.19965	-6.116	0.54070	T	.	.	0.132	0.37596	B	.;.;.;.	.;.;.;.	3.534790	0.49613	22.8	0.99787104343050581	0.87308	0.50755	0.28736	D	AEFDBI	0.493239	0.52954	N	0.0518067213206006	0.44226	2.700493	-0.0926892771035825	0.35691	2.067921	0.999990532074869	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	3.13	0.35090	0.417000	0.20934	2.594000	0.33484	0.676000	0.76740	0.000000	0.06391	0.239000	0.23838	0.995000	0.73285	0.0:0.0:0.6755:0.3245	11.552	0.49980	783	0.47268	.;.;.;.	.	.	.	.	.	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	0.02381	1602.98	35	chr7	44539148	.	G	A	1602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=1.09;SOR=0.755	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1617,0,1338	20	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	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	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:62,12,22:96:99:.:.:311,220,1967,0,1614,1598	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	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	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:62,12,22:96:99:.:.:311,220,1967,0,1614,1598	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	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	.	.	.	.	.	.	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	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,22,12:96:99:.:.:255,0,1715,147,1567,1801	0	0	17	1
chr7	72863913	72863913	C	T	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon7:c.G740A:p.R247H,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402952361	0.0004	0.0005	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0041	0	0	0.0002	0.0021	3.772e-05	0.0002	3.598e-05	0.0004	0.0046	0.0005	0.0005	0.0003	0.0006	0.0083	0.0004	0.0003	0.0063	0.0055	0	0	0.0001	0.0012	0.0033	0	0	8.819e-05	0	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	295.15	63	chr7	72863913	.	C	T	295.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=703;ExcessHet=0.0000;FS=14.588;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.024;MQ=44.80;MQRankSum=-4.516e+00;QD=9.22;ReadPosRankSum=-2.400e-01;SOR=3.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,9:32:99:0|1:72863913_C_T:309,0,931:72863913	20	0	1	0
chr7	80656653	80656653	G	A	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon2:c.G234A:p.M78I	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.951	N	1.000	N	-1.1	N	0.1	T	-1.026	T	0.074	T	0.177	0.786	8.146	-6.25	-1.446	-3.567	2.621	0.150	0.0102520499179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20759	T	0.228	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.951228	0.07657	N	1.022190	1	0.08975	N	-0.345	0.03330	N	-0.58	0.71425	T	-0.67	0.19933	N	0.211	0.24634	-1.0257	0.21853	T	0.074	0.29739	T	9	0.040949017	0.02707	T	0.010252	0.26566	T	0.150	0.39571	0.393	0.41770	0.0401082797425	0.02173	0.4666137794678448	0.46580	3.71968781554E-4	0.00038	0.326464533806	0.14400	T	0.048143	0.27930	T	-0.181266	0.23547	T	-0.498153	0.22540	T	0.0515517151828231	0.05770	T	0.648535	0.29555	T	0.28588754	0.51608	0.13654344	0.32662	0.28588754	0.51608	0.13654344	0.32661	-5.298	0.43658	T	0.11339934154377475	0.09919	0.169	0.37140	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.134677	0.03441	0.632	0.83347874285642931	0.14676	0.05547	0.11442	N	AEFGCI	0.177584	0.30483	N	-1.48780128274192	0.01935	0.08496498	-1.4973655502931	0.02366	0.1087014	0.999988079758778	0.51787	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.53	-6.25	0.01863	-3.797000	0.00409	-2.191000	0.04080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.236:0.1325:0.4449:0.1867	2.621	0.04619	966	0.07191	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	917.98	34	chr7	80656653	.	G	A	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.506e+00;DP=801;ExcessHet=0.0000;FS=2.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.620e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/1:40,39:79:99:932,0,1022	20	0	1	0
chr7	82955138	82955138	C	G	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.G5815C:p.E1939Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.493	P	0.277	B	.	.	1.000	D	1.39	L	2.33	T	-1.128	T	0.054	T	0.071	1.005	9.104	5.57	2.619	3.518	19.540	0.140	0.00432343234761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.41	0.14818	T	0.493	0.37004	P	0.277	0.40197	B	.	.	.	.	0.96305	0.38326	D	.	.	.	2.32	0.16640	T	-0.81	0.22294	N	0.304	0.34336	-1.1282	0.01870	T	0.054	0.22997	T	9	0.18362057	0.33697	T	0.004323	0.10498	T	0.140	0.37593	0.289	0.24921	0.385882932397	0.38197	0.21219558405339548	0.21135	0.0361862173451	0.03821	0.359603524208	0.19328	T	.	.	.	-0.304086	0.08279	T	-0.674575	0.07318	T	0.245420459331524	0.22667	T	0.810219	0.46129	T	0.15571809	0.35180	0.17021994	0.39115	0.15571809	0.35179	0.17021994	0.39114	-4.957	0.36370	T	.	.	0.209	0.43640	B	.;.	.;.	3.193509	0.43402	21.7	0.93770196018755436	0.23722	0.77912	0.38366	D	AEFHCI	0.596343	0.59055	D	0.261880950511452	0.54231	3.589018	0.375798937598896	0.60075	4.191352	0.904443024280057	0.26179	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	3.740000	0.54802	7.715000	0.67011	0.599000	0.40250	0.948000	0.32982	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.540	0.95264	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	216.98	39	chr7	82955138	.	C	G	216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.117e+00;DP=899;ExcessHet=0.0000;FS=93.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=0.442;SOR=5.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,18:108:99:0|1:82955133_C_G:231,0,3303:82955133	20	0	1	0
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.363	B	0.075	B	0.019	N	1.000	N	1.04	L	-3.4	D	-0.359	T	0.603	D	0.122	0.897	8.644	3.12	0.389	0.619	4.650	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.1923	826.23	74	chr7	92517375	.	C	T,G	826.23	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-3.290e+00;DP=1775;ExcessHet=1.1607;FS=208.468;InbreedingCoeff=-0.2780;MLEAC=6,1;MLEAF=0.231,0.038;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=0.648;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,18,4:82:70:.:.:70,0,1586,265,1749,3175	8	0	4	8
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,25:152:37:.:.:37,0,4700	2	0	19	0
chr7	95161871	95161871	C	A	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon4:c.C1654A:p.Q552K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.67	P	0.305	B	0.000	D	0.998	D	0.495	N	1.77	T	-1.097	T	0.048	T	0.179	2.890	15.63	4.85	2.634	2.424	17.601	0.072	0.00419837512912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.891e-07	2.736e-06	1.371e-06	0	9.041e-07	0	0	.	.	0	0	0	0	0	0	9.041e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.36509	T	0.147	0.32783	T	0.197	0.29559	B	0.043	0.24256	B	0.000010	0.62929	D	0.111401	0.998412	0.44886	D	0.335	0.10427	N	1.77	0.25841	T	-2.92	0.61129	D	0.221	0.29429	-1.0972	0.04447	T	0.048	0.20513	T	10	0.19379187	0.35163	T	0.004198	0.10121	T	0.072	0.21020	0.588	0.71623	0.469742815239	0.46599	0.7163553040364857	0.71578	0.225540598374	0.25097	0.514878153801	0.40906	T	0.212449	0.57350	T	-0.202639	0.20424	T	-0.528854	0.19402	T	0.905542612075806	0.55932	D	0.864214	0.64041	D	0.29109237	0.52094	0.19600305	0.43308	0.29109237	0.52094	0.19600305	0.43307	-7.469	0.62425	T	.	.	0.127	0.31857	B	.;.;.;.;.;.	.;.;.;.;.;.	3.206200	0.43621	21.8	0.98695321299213057	0.44823	0.75294	0.36859	D	AEFI	0.314126	0.41908	N	-0.0054424589324604	0.41610	2.491833	0.156722650383056	0.47500	2.979222	0.00729035133330239	0.11429	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.85	4.85	0.62375	3.342000	0.51877	4.750000	0.44654	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.601	0.87924	797	0.45241	.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	465.98	33	chr7	95161871	.	C	A	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.748;DP=736;ExcessHet=0.0000;FS=1.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-1.081e+00;SOR=1.042	GT:AD:DP:GQ:PL	0/1:29,21:50:99:480,0,686	20	0	1	0
chr7	96110045	96110045	C	-	exonic	DYNC1I1	.	frameshift deletion	DYNC1I1:NM_001278422:exon16:c.1783delC:p.V597Cfs*21,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978076440	2.474e-05	1.431e-05	2.484e-05	2.466e-05	0.0006	1.128e-05	7.61e-06	0.0002	0.0001	0.0006	4.163e-05	0	0	0	0	0	7.56e-05	1.759e-05	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	1243.3	33	chr7	96110044	.	TC	T	1243.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.849e+00;DP=721;ExcessHet=0.0000;FS=0.944;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=18.56;ReadPosRankSum=-8.950e-01;SOR=0.556	GT:AD:DP:GQ:PL	0/1:26,41:67:99:1257,0,724	19	0	1	1
chr7	98230986	98230986	C	G	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon15:c.G2257C:p.E753Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.678	P	0.14	B	0.031	N	1.000	N	0.69	N	1.52	T	-1.064	T	0.032	T	0.089	-0.645	1.157	3.76	2.319	1.055	4.828	0.061	0.00908948899349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.754e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.06779	T	0.547	0.09522	T	0.678	0.41346	P	0.107	0.31211	B	0.031079	0.25219	N	0.423704	1	0.08975	N	0	0.06538	N	1.52	0.30669	T	-0.88	0.23808	N	0.372	0.41360	-1.0638	0.10831	T	0.032	0.13898	T	10	0.15200865	0.28721	T	0.009089	0.23917	T	0.061	0.17616	0.42	0.46200	0.262175524916	0.25828	0.5445787527315191	0.54383	0.349594126067	0.36810	0.332080900669	0.15249	T	0.014229	0.12151	T	-0.300737	0.08590	T	-0.669765	0.07624	T	0.170119704002938	0.18588	T	0.869413	0.57379	D	0.051241685	0.09380	0.027381212	0.00887	0.051241685	0.09380	0.027381212	0.00887	-5.096	0.37865	T	.	.	0.078	0.06803	B	.	.	1.875450	0.23824	16.16	0.57047721620192737	0.05684	0.19872	0.20828	N	AEFDBI	0.085817	0.17399	N	-0.542905165959008	0.20706	1.093553	-0.521324217847271	0.21574	1.16775	0.995724553861951	0.34289	0.706548	0.73137	0	0.694456	0.67091	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.66	3.76	0.42368	0.919000	0.28312	2.134000	0.30799	0.582000	0.30178	0.495000	0.26917	0.972000	0.29809	0.018000	0.11154	0.0:0.6083:0.2051:0.1866	4.828	0.12788	795	0.45444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	434.98	40	chr7	98230986	.	C	G	434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.000e-01;DP=748;ExcessHet=0.0000;FS=3.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.70;ReadPosRankSum=2.56;SOR=0.255	GT:AD:DP:GQ:PL	0/1:31,19:50:99:449,0,918	20	0	1	0
chr7	99665259	99665259	T	C	exonic	CYP3A5	.	nonsynonymous SNV	CYP3A5:NM_000777:exon7:c.A577G:p.I193V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	0.0	B	0.002	B	0.000	N	1.000	D	-0.09	N	-0.31	T	-1.016	T	0.088	T	0.067	-1.325	0.033	-2.13	-0.225	-0.263	9.204	0.116	0.0136273423735	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs370657167	6.156e-06	6.156e-06	8.167e-06	4.125e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.724	0.03880	T	0.988	0.02376	T	0.0	0.02946	B	0.002	0.06944	B	0.000143	0.49130	N	0.205064	1	0.81001	D	-0.12	0.04575	N	-0.31	0.68030	T	-0.15	0.09297	N	0.043	0.01577	-1.0156	0.25143	T	0.088	0.34133	T	10	0.075491965	0.11673	T	0.013627	0.33179	T	0.116	0.32463	0.64	0.77687	0.474722520063	0.47101	0.39442954219600573	0.39357	0.174241393469	0.19618	.	.	.	0.006068	0.05507	T	-0.236113	0.15849	T	-0.576936	0.14820	T	0.0467327123412175	0.04917	T	0.675932	0.28448	T	0.05300034	0.09966	0.04607512	0.06342	0.05300034	0.09965	0.04607512	0.06341	-6.154	0.47550	T	.	.	0.082	0.08899	B	.	.	-0.249942	0.02846	0.399	0.56577059287099596	0.05582	0.13812	0.18065	N	AEFGBCI	0.119320	0.23293	N	-1.46855884381392	0.02075	0.09125561	-1.47199601812314	0.02577	0.1187371	0.997884106344825	0.36150	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.84	-2.13	0.06745	-0.090000	0.11129	-12.077000	0.00552	0.665000	0.62972	0.118000	0.23139	0.000000	0.08366	0.027000	0.12703	0.0:0.6567:0.0:0.3433	9.204	0.36437	78	0.96748	.	.	.	.	.	.	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	1	0	0	0	0.02381	2655.98	35	chr7	99665259	.	T	C	2655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.331e+00;DP=917;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.258;SOR=0.582	GT:AD:DP:GQ:PL	0/1:106,110:216:99:2670,0,2794	20	0	1	0
chr7	100091145	100091145	C	G	exonic	COPS6	.	nonsynonymous SNV	COPS6:NM_006833:exon7:c.C642G:p.N214K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.009	B	0.007	B	0.000	D	1.000	D	0.515	N	0.99	T	-1.081	T	0.056	T	0.335	-0.895	0.448	3.95	1.265	1.758	10.884	0.064	0.0103224065615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.02981	T	0.962	0.02542	T	0.009	0.15093	B	0.007	0.12992	B	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	0.58	0.15352	N	0.99	0.41750	T	-1.09	0.28290	N	0.417	0.45709	-1.0806	0.07233	T	0.056	0.23753	T	10	0.08614209	0.14613	T	0.010322	0.26719	T	0.064	0.18567	0.323	0.30387	0.408543089712	0.40467	0.5864734344488982	0.58577	1.07623771461	0.76979	0.846343994141	0.89062	D	0.155044	0.49659	T	-0.153099	0.27828	T	-0.457692	0.26851	T	0.111308917403221	0.13559	T	0.940606	0.77652	D	0.561692	0.70603	0.25344104	0.50992	0.561692	0.70605	0.25344104	0.50991	-3.884	0.22062	T	.	.	0.500	0.64763	A	.;.	.;.	2.193986	0.27977	17.64	0.78963326899557318	0.12530	0.95564	0.65224	D	AEFDGBHCI	0.623237	0.60726	D	-0.664837938029763	0.17030	0.8728471	-0.478046025752368	0.22760	1.237788	0.999999999811274	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.723	0.93126	0	.	.	4.82	3.95	0.44952	1.851000	0.38978	0.810000	0.21743	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.950000	0.49671	0.0:0.909:0.0:0.091	10.884	0.46168	151	0.94052	Rpn11/EIF3F, C-terminal;Rpn11/EIF3F, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2158.98	38	chr7	100091145	.	C	G	2158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.262;DP=896;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.978;SOR=0.790	GT:AD:DP:GQ:PL	0/1:88,77:165:99:2173,0,2449	20	0	1	0
chr7	100106456	100106456	C	A	exonic	AP4M1	.	nonsynonymous SNV	AP4M1:NM_001363671:exon14:c.C1100A:p.A367D	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	561109	Hereditary_spastic_paraplegia_50|not_provided|AP4M1-related_disorder	MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.648	P	0.395	B	0.000	D	1.000	D	2.07	M	1.97	T	-0.712	T	0.235	T	0.877	2.039	12.78	3.84	2.501	3.496	5.687	0.223	0.0181712163048	0.0007	0.000399361	0.0002	0.0021	0.0002	0	0	0	0	0	0.0001682	26	154602	rs145979929	5.474e-05	5.472e-05	6.399e-05	4.539e-05	0.0015	4.478e-05	4.148e-05	0.0012	0.0011	0.0015	0.0002	0	0	0	0	8.993e-07	0.0003	1.159e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0005	0	0	0	0	0	0	0	0.48	0.17353	T	0.521	0.49663	T	0.418	0.35279	B	0.395	0.44317	B	0.000098	0.51296	D	0.168878	0.999275	0.49770	D	2.91	0.84121	M	1.97	0.22067	T	-0.81	0.29933	N	0.878	0.89465	-0.7121	0.59849	T	0.235	0.60173	T	10	0.021075487	0.00497	T	0.018171	0.40143	T	0.223	0.52023	.	.	0.494366844524	0.49069	0.7049237617629767	0.70434	0.296445930362	0.32028	0.523091733456	0.42061	T	0.196791	0.55328	T	-0.148278	0.28582	T	-0.00478209	0.70025	D	0.0560058229879815	0.06524	T	0.784422	0.42203	T	0.4149509	0.61754	0.33164316	0.59021	0.4149509	0.61754	0.33164316	0.59020	-6.265	0.48445	T	0.5328685046846257	0.60350	0.287	0.55733	B	.;.;.;.;.;.	.;.;.;.;.;.	4.118776	0.61550	24.4	0.98294027113363447	0.39983	0.80854	0.40388	D	AEFDBCI	0.517625	0.54366	D	0.316822792270723	0.57012	3.867087	0.349027807999993	0.58447	4.015427	0.999998942262695	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.81	3.84	0.43422	2.902000	0.48401	4.696000	0.44387	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.965000	0.52897	0.0:0.7883:0.0:0.2117	5.687	0.17079	208	0.91895	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	84	chr7	100106456	.	C	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.887e+00;DP=1077;ExcessHet=0.0000;FS=1.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.390e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1216,0,1306	20	0	1	0
chr7	100153953	100153953	A	C	exonic	LAMTOR4	.	nonsynonymous SNV	LAMTOR4:NM_001318237:exon3:c.A208C:p.I70L	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.194	B	0.091	B	0.000	D	1.000	D	.	.	2.97	T	-1.024	T	0.011	T	0.23	3.257	16.93	2.86	0.396	2.024	5.653	0.034	0.0430791212957	0.0010	0.00219649	0.0008	0.0066	0.0007	0	0	0	0	0	0.0003881	60	154602	rs115350338	0.0001	0.0001	0.0002	9.573e-05	0.0040	0.0001	0.0001	0.0035	0.0033	0.0040	0.0005	0	0	0	0	9.102e-07	0.0004	4.885e-05	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0030	0.0028	0.0035	0	0.0007	0	0	0	0	0	0.0005	0	0.02	0.49613	D	0.039	0.51112	D	0.194	0.29493	B	0.091	0.29943	B	0.000139	0.49741	D	0.175960	1	0.81001	D	.	.	.	2.97	0.09450	T	-0.96	0.25551	N	0.135	0.17416	-1.0245	0.22246	T	0.011	0.04227	T	9	0.005545765	0.00122	T	0.043079	0.60796	D	0.034	0.08419	.	.	0.225902525712	0.22197	0.25831213443239776	0.25745	0.269601559135	0.29478	0.51018601656	0.40249	T	0.05394	0.29583	T	-0.535575	0.00356	T	-0.541964	0.18105	T	0.0237689974259855	0.01117	T	0.574842	0.20648	T	0.43376458	0.62998	0.16909185	0.38918	0.43376458	0.62999	0.16909185	0.38917	-2.561	0.06212	T	.	.	0.073	0.15877	B	.;.;.;.	.;.;.;.	2.525063	0.32633	19.10	0.98358265211249996	0.40618	0.80063	0.39803	D	AEFDBHCI	0.714042	0.66665	D	-0.182549033232511	0.33862	1.92597	-0.082878077944278	0.36096	2.096451	0.999999645194547	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.26	2.86	0.32427	1.885000	0.39312	6.148000	0.54152	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.7395:0.1714:0.089:0.0	5.653	0.16903	229	0.91079	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	264.98	38	chr7	100153953	.	A	C	264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e-02;DP=780;ExcessHet=0.0000;FS=5.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=1.22;SOR=1.327	GT:AD:DP:GQ:PL	0/1:17,12:29:99:279,0,441	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,22:75:99:0|1:100175805_G_C:340,0,1767:100175805	0	0	21	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:59,0,40:99:99:0|1:100773849_CCAT_C:1502,1680,4157,0,2477,2357:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,40,0:99:99:0|1:100773849_CCAT_C:1502,0,2357,1680,2477,4157:100773849	0	11	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:367,118,0:485:99:.:.:3850,0,15055,4955,15410,20365	0	0	19	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,195,98:462:99:.:.:6068,0,3899,2747,824,11012	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:306,91,49:457:99:2900,0,12575,1764,10791,14465	1	0	18	0
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,158,141:510:99:.:.:6139,0,6304,754,541,6721	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:718,80,61:859:99:0|1:100953486_C_A:1198,0,29908,798,27587,30763:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:659,138,61:858:99:0|1:100953357_G_A:3750,0,27061,3208,24983,31126:100953357	7	0	10	0
chr7	100953545	100953545	-	CATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1766_1767insCATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA:p.T590Ifs*64,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5924.07	892	chr7	100953545	.	C	CCATTGTAGCAACGACAGGCACAGTTAAGACCACCGTCACCAGCTCCACAGCCACATTCCGGGAGACCACCA	5924.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.280e+00;DP=19290;ExcessHet=0.1072;FS=4.031;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.16;MQRankSum=-6.510e-01;QD=2.85;ReadPosRankSum=-4.457e+00;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:783,114:897:99:0|1:100953515_C_T:2430,0,32535:100953515	19	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:749,98,0:847:99:.:.:1860,0,31155,4115,31450,35565	3	0	15	0
chr7	100953550	100953550	-	ACTTCTACAACTGACATCTCCACAGAATCTCTCATGA	exonic	MUC3A	.	stopgain	MUC3A:NM_005960:exon2:c.1771_1772insACTTCTACAACTGACATCTCCACAGAATCTCTCATGA:p.A591Dfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	816.07	879	chr7	100953550	.	G	GACTTCTACAACTGACATCTCCACAGAATCTCTCATGA	816.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.594e+00;DP=19057;ExcessHet=0.1072;FS=7.780;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=56.09;MQRankSum=1.03;QD=0.42;ReadPosRankSum=-9.430e-01;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:778,70:848:99:0|1:100953515_C_T:597,0,32457:100953515	19	0	2	0
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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1541.07	411	chr7	100954873	.	G	A	1541.07	.	AC=2;AF=0.063;AN=32;BaseQRankSum=3.28;DP=9000;ExcessHet=0.1072;FS=11.692;InbreedingCoeff=-0.1200;MLEAC=2;MLEAF=0.063;MQ=58.47;MQRankSum=-1.038e+01;QD=1.77;ReadPosRankSum=-1.165e+00;SOR=1.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,52:400:99:0|1:100954855_A_G:1048,0,14456:100954855	14	0	2	5
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:431,97,0:528:99:0|1:100954953_T_A:2776,0,17806,4073,18098,22171:100954953	6	0	14	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	250.36	306	chr7	100955170	.	G	T,*	250.36	.	AC=3,4;AF=0.075,0.100;AN=40;BaseQRankSum=0.637;DP=7032;ExcessHet=2.5830;FS=10.762;InbreedingCoeff=-0.2103;MLEAC=2,4;MLEAF=0.050,0.100;MQ=58.89;MQRankSum=-1.674e+01;QD=0.10;ReadPosRankSum=-9.590e-01;SOR=1.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:241,9,21:271:99:0|1:100955170_G_T:156,504,10596,0,9742,10056:100955170	13	0	3	1
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,38,0:356:99:0|1:100955573_C_A:638,0,13238,1596,13353,14948:100955573	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,38,0:358:99:0|1:100955573_C_A:632,0,13322,1596,13437,15032:100955573	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:633,83,0:716:99:.:.:820,0,26327,2279,26561,28697	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:556,66,0:622:99:0|1:100955908_C_T:1098,0,23148,2771,23346,26118:100955908	4	0	15	0
chr7	100956316	100956316	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4537G:p.T1513A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467913808	2.408e-05	0.0002	2.646e-05	2.21e-05	0.0003	1.217e-05	9.87e-06	8.179e-05	4.469e-05	0.0003	0	0	0.0002	3.402e-05	0	0	4.139e-05	0	0.0004	0.0008	0.0003	0.0005	0.0027	0.0003	0.0003	0.0016	0.0012	0.0011	0	0.0003	0	0.0027	9.502e-05	0	4.425e-05	0.0005	0.0004	.	.	.	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.02462	.	.	.	.	.	.	.	0.045228183	0.03569	T	.	.	.	.	.	.	.	.	.	0.019659941930852718	0.01918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250275	0.05031	T	.	.	.	.	.	.	.	.	-6.989	0.53954	T	.	.	0.137	0.29833	B	.;.	.;.	1.194535	0.15859	12.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024000	0.13447	-1.846000	0.04621	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.025	1235.33	306	chr7	100956316	.	A	G	1235.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.228;DP=7157;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=55.32;MQRankSum=-9.038e+00;QD=3.06;ReadPosRankSum=-5.530e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:329,75:404:99:1249,0,12773	19	0	1	1
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:274,117,115:506:27:0|1:100960582_T_A:5543,27,10838,0,7923,10822:100960582	0	0	15	0
chr7	100998937	100998937	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G8374A:p.A2792T,	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	.	.	1.000	N	0	N	2.65	T	-0.947	T	0.012	T	0.034	-0.097	3.524	-1.6	-0.160	-0.295	2.994	0.006	.	.	.	0.0017	0.0224	0.0033	0	0	0.0003	0.0048	0	3.84e-05	1	26028	rs200522214	4.289e-05	0.0013	4.737e-05	3.83e-05	0.0017	3.378e-05	3.093e-05	0.0013	0.0012	0.0017	2.821e-05	0	0	0	0.0002	2.789e-06	8.734e-05	0	0.0008	0.0092	0.0008	0.0008	0.0031	0.0007	0.0007	0.0026	0.0025	0.0031	0	0.0001	0	0.0002	0	0	0	0.0010	0	1.0	0.00964	T	0.604	0.17217	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.65	0.12676	T	0.88	0.01813	N	0.012	0.00445	-0.9473	0.41431	T	0.012	0.04463	T	7	0.005195886	0.00113	T	.	.	.	0.006	0.00375	.	.	0.0138822411134	0.00435	0.031470559470033306	0.03096	.	.	0.499320447445	0.38732	T	0.003467	0.02869	T	-0.435299	0.01378	T	-0.863054	0.00811	T	0.0108103610534165	0.00153	T	0.19908	0.02235	T	0.020732736	0.00643	0.04498709	0.05953	0.020732736	0.00643	0.04498709	0.05953	-7.429	0.58471	T	.	.	0.069	0.03925	B	.;.	.;.	-0.794431	0.01117	0.051	0.62853308456665524	0.07070	0.00006	0.00120	N	AEFI	0.018152	0.00529	N	-1.42780191339589	0.02397	0.1058023	-1.57531402853178	0.01807	0.08229113	1.56425482405056E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.851	-1.6	0.07977	-0.964000	0.03943	-3.521000	0.02724	-2.163000	0.00369	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6789:0.0:0.3211:0.0	2.994	0.05627	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	80.98	239	chr7	100998937	.	G	A	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.025e+00;DP=2668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.59;MQRankSum=-4.330e-01;QD=0.40;ReadPosRankSum=0.691;SOR=0.230	GT:AD:DP:GQ:PL	0/1:183,22:205:95:95,0,5773	20	0	1	0
chr7	101039839	101039839	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8423G:p.T2808R,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.898	P	0.177	B	.	.	1.000	N	0	N	4.41	T	-0.946	T	0.001	T	0.049	-1.777	0.010	-1.36	-4.427	-2.205	3.828	0.044	.	0.0102	0.00738818	0.0028	0.0310	0.0011	0	0	4.497e-05	0.0022	0	0.0025679	397	154602	rs116593362	0.0009	0.0009	0.0010	0.0008	0.0330	0.0008	0.0008	0.0314	0.0308	0.0330	0.0013	0	0	1.873e-05	0.0009	1.892e-05	0.0017	0.0001	0.0088	0.0087	0.0091	0.0085	0.0312	0.0084	0.0082	0.0297	0.0292	0.0312	0	0.0026	0	0	0	0	9.036e-05	0.0064	0	0.533	0.06957	T	.	.	.	0.898	0.49442	P	0.177	0.35687	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	4.41	0.02196	T	-1.01	0.26639	N	0.046	0.01825	-0.9457	0.41698	T	0.001	0.00287	T	9	0.0028049052	0.00044	T	.	.	.	0.044	0.11924	.	.	0.0138822411134	0.00435	0.00206185436398436	0.00191	.	.	0.251407653093	0.03917	T	0.016984	0.13935	T	-0.759383	0.00015	T	-0.839203	0.01111	T	0.0146952112187406	0.00305	T	0.267973	0.04452	T	0.046337493	0.07737	0.0517961	0.08407	0.046337493	0.07737	0.0517961	0.08407	0.428	0.00228	T	.	.	0.106	0.19559	B	.	.	-0.598567	0.01576	0.105	0.26373795685045082	0.01260	0.00029	0.00276	N	AEFBI	0.024806	0.01596	N	-2.32826429680819	0.00039	0.001683964	-2.49341791897005	0.00024	0.001057307	0.980224609754451	0.30112	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.679	-1.36	0.08610	0.009000	0.13117	-6.475000	0.01388	-1.722000	0.00727	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4234:0.2196:0.357	3.828	0.08377	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	0.02381	8788.98	42	chr7	101039839	.	C	G	8788.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.40;DP=6159;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.519;SOR=0.698	GT:AD:DP:GQ:PL	0/1:303,310:613:99:8803,0,8046	20	0	1	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.017	B	0.000	D	1.000	D	0.745	N	1.61	T	-1.047	T	0.041	T	0.188	-0.497	1.720	4.33	2.523	2.637	9.900	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	390.74	77	chr7	105614066	.	G	C	390.74	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-4.208e+00;DP=2407;ExcessHet=1.7912;FS=149.613;InbreedingCoeff=-0.2427;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.978;SOR=11.460	GT:AD:DP:GQ:PL	0/1:61,14:79:21:21,0,1459	11	0	6	4
chr7	107298244	107298244	T	C	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon5:c.A497G:p.Q166R	Congenital disorder of glycosylation, type IIi	.	4	1514	4	0	0	4	0.00131926	.	.	301398	COG5-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.56	T	0.926	P	0.406	B	0.000	D	1.000	D	2.19	M	0.32	T	-0.763	T	0.210	T	0.676	3.245	16.88	5.68	2.169	6.857	15.932	0.128	0.0295024944134	0.0003	0.000399361	0.0005	0	0.0002	0	0	0.0007	0.0011	0.0005	0.000511	79	154602	rs189560910	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	0	0.0007	0.0051	0	0	0.0007	0.0004	0.0007	0.0003	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0012	0.0011	0.0001	0	0.0018	0.0046	0	0	0.0034	0.0004	0.0009	0.0004	0.107	0.31532	T	0.075	0.42794	T	0.851	0.51467	P	0.177	0.44683	B	0.000000	0.84330	D	0.054481	0.999973	0.53665	D	2.705	0.79137	M	0.32	0.58468	T	-1.13	0.31981	N	0.779	0.77601	-0.7631	0.57237	T	0.210	0.56933	T	10	0.04230079	0.02967	T	0.029502	0.51995	D	0.128	0.35103	.	.	0.812139797032	0.81037	0.29568559274099027	0.29481	0.273840617861	0.29883	0.464146018028	0.33878	T	0.007354	0.06762	T	-0.139784	0.29926	T	-0.0958357	0.63718	T	0.0660696949580961	0.08089	T	0.786621	0.42528	T	0.27544832	0.50608	0.26743796	0.52601	0.25455642	0.48485	0.2697498	0.52857	-5.148	0.38408	T	.	.	0.074	0.05017	B	.;.;.	.;.;.	2.532786	0.32752	19.14	0.99704583126920399	0.80867	0.97241	0.73526	D	AEFGI	0.727536	0.67585	D	0.39540390882606	0.61174	4.314824	0.459322156803261	0.65319	4.808603	0.999997381266894	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	6.908000	0.75552	2.376000	0.32458	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.932	0.79463	666	0.61362	.;.;.	.	.	.	.	.	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	0.02381	1010.98	33	chr7	107298244	.	T	C	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=777;ExcessHet=0.0000;FS=2.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-1.720e-01;SOR=1.038	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1025,0,962	20	0	1	0
chr7	122303885	122303885	A	G	exonic	FEZF1	.	nonsynonymous SNV	FEZF1:NM_001024613:exon1:c.T553C:p.F185L,	Hypogonadotropic hypogonadism 22, with or without anosmia, Autosomal recessive	.	428	1085	8	1	0	10	0.00458716	.	.	735915	not_provided|FEZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.0	B	0.000	D	1.000	D	-0.345	N	3.58	T	-0.937	T	0.008	T	0.232	0.412	6.238	3.49	0.898	4.091	10.518	0.091	0.010498803367	7.7e-05	0.000798722	0.0006	0	9.411e-05	0	0	0.0001	0	0.0035	0.0004786	74	154602	rs370467502	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0038	0.0037	2.987e-05	8.946e-05	0	2.519e-05	0	0.0026	5.306e-05	0.0004	0.0042	0.0002	0.0002	7.709e-05	0.0002	0.0033	0.0001	9.231e-05	0.0021	0.0017	0	0	0	0	0	0	0	0.0001	0.0005	0.0033	0.693	0.04264	T	0.821	0.03817	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.053341	0.972835	0.81001	D	0.075	0.08292	N	3.41	0.05574	T	0.17	0.05125	N	0.174	0.18649	-0.9372	0.43057	T	0.008	0.02842	T	10	0.007815272	0.00177	T	0.010499	0.27109	T	0.091	0.26358	0.403	0.43408	0.0986583533028	0.09354	0.3036808074717667	0.30281	.	.	0.80135089159	0.82168	T	0.056174	0.30213	T	-0.543239	0.00320	T	-0.554258	0.16918	T	0.0192541617395333	0.00631	T	0.707329	0.31793	T	0.21460988	0.43871	0.12800616	0.30804	0.20819955	0.43049	0.13686676	0.32730	-2.256	0.04321	T	.	.	0.882	0.81616	P	.	.	3.753288	0.53807	23.4	0.66403007826150473	0.08048	0.75610	0.37029	D	AEFDBHCI	0.193461	0.32058	N	-0.765986607241676	0.14203	0.7056025	-0.564290761106263	0.20426	1.100497	0.999999321641421	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.65	3.49	0.39065	3.492000	0.53022	9.283000	0.79730	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9225:0.0:0.0775:0.0	10.518	0.44090	697	0.58201	.	.	.	.	.	.	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	0.02381	1353.98	38	chr7	122303885	.	A	G	1353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.223e+00;DP=874;ExcessHet=0.0000;FS=5.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=-1.245e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/1:35,53:88:99:1368,0,974	20	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1534.68	31	chr7	123582083	.	T	C	1534.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.931e+00;DP=721;ExcessHet=0.3300;FS=3.855;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.367;SOR=0.392	GT:AD:DP:GQ:PL	0/1:15,26:41:99:676,0,419	18	0	3	0
chr7	129225338	129225338	C	T	exonic	AHCYL2	.	nonsynonymous SNV	AHCYL2:NM_001130720:exon1:c.C262T:p.R88W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	0.895	L	-1.57	D	0.110	D	0.548	D	0.735	4.913	28.4	4.71	2.447	1.523	10.268	0.507	0.586248585796	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866837381	2.223e-06	6.84e-06	4.388e-06	0	0.0006	5.9e-07	1.6e-07	0.0002	9.078e-05	0	0	0	0	0	0.0006	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.973	0.77976	D	0.000000	0.84330	D	0.000000	0.999659	0.48079	D	0.695	0.17993	N	-1.57	0.81900	D	-1.51	0.37759	N	0.356	0.39760	0.110	0.84354	D	0.548	0.83398	D	10	0.32870767	0.50135	T	0.586249	0.96309	D	0.507	0.78786	0.218	0.13932	0.375384844437	0.37152	0.45568552719086625	0.45486	1.21191904198	0.80859	0.944519877434	0.99608	D	0.113416	0.43043	T	0.200664	0.73954	D	0.0504633	0.73616	D	0.918864667415619	0.57732	D	0.950005	0.80823	D	0.6303817	0.74319	0.5752638	0.75394	0.6303817	0.74320	0.5752638	0.75395	-6.882	0.53166	T	.	.	0.649	0.70880	P	.;.	.;.	5.491561	0.91489	32	0.99889808813301817	0.96436	0.56693	0.30183	D	ALL	0.442566	0.50024	N	0.43808776939733	0.63531	4.588548	0.439724673257064	0.64058	4.652682	0.999999999945881	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.71	4.71	0.59010	1.204000	0.31902	7.122000	0.57598	0.466000	0.21733	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.1973:0.8027:0.0:0.0	10.268	0.42646	691	0.58815	.;.	.	.	.	.	.	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	0.02381	178.98	35	chr7	129225338	.	C	T	178.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=-1.225e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/1:16,8:24:99:193,0,365	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/2:0,13,17:30:99:1189,657,790,536,0,486	5	3	3	0
chr7	139626647	139626647	G	C	exonic	HIPK2	.	nonsynonymous SNV	HIPK2:NM_001113239:exon6:c.C1573G:p.P525A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.996	D	.	.	1.000	D	.	.	1.66	T	-0.735	T	0.220	T	0.905	3.484	17.82	5.53	2.591	6.707	19.447	0.506	0.0313631581858	.	.	8.298e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs543724948	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	5.396e-06	3.313e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.103	0.91255	T	0.23	0.32249	T	0.997	0.77913	D	0.923	0.84481	D	.	.	.	.	1	0.81001	D	.	.	.	1.66	0.27486	T	-5.33	0.95276	D	0.664	0.74098	-0.7352	0.58700	T	0.220	0.58345	T	8	0.79897934	0.79328	D	0.031363	0.53467	D	0.506	0.78724	0.758	0.88730	0.702362406023	0.69978	0.591109783705798	0.59040	0.467212021082	0.46105	0.829755365849	0.86524	D	0.316958	0.68845	T	0.0951279	0.63761	D	0.12457	0.78535	D	0.415501266967918	0.29523	T	0.843516	0.52087	T	0.2716379	0.50235	0.39558032	0.64222	0.2716379	0.50234	0.39558032	0.64222	-6.411	0.49595	T	.	.	0.101	0.17488	B	.;.;.	.;.;.	4.789299	0.77707	26.8	0.98646969280128249	0.44137	0.99002	0.89800	D	AEFBI	0.696323	0.65470	D	0.685778391532968	0.78699	6.925	0.697064811477921	0.82156	7.697696	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.872000	0.75336	9.998000	0.83025	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.447	0.94846	922	0.19044	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1188.98	34	chr7	139626647	.	G	C	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=813;ExcessHet=0.0000;FS=0.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.313e+00;SOR=0.842	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1203,0,1311	20	0	1	0
chr7	140587704	140587704	G	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318052:exon3:c.C1072A:p.L358M	.	.	431	1090	1	0	0	1	0.000458505	.	.	2683789	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.991	D	0.001	D	0.888	D	1.935	M	3.53	T	-1.112	T	0.050	T	0.37	3.211	16.76	-2.32	-0.915	2.032	6.500	0.132	0.0124644170005	0.0002	0.000199681	9.954e-05	0	8.64e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs146122731	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	8.945e-05	0	0	1.872e-05	0.0009	0.0002	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.718e-05	0.0001	9.899e-05	0	0	0.0003	0	0	0	0	0.0002	0.0019	0	0.082	0.33254	T	0.243	0.24193	T	0.997	0.90584	D	0.921	0.79672	D	0.000636	0.42799	D	0.098318	0.887808	0.35886	D	2.67	0.78151	M	3.53	0.10871	T	-0.78	0.22944	N	0.534	0.56231	-1.1123	0.02879	T	0.050	0.21104	T	10	0.18543854	0.33964	T	0.012464	0.31052	T	0.132	0.35948	.	.	0.216943180021	0.21308	0.17146809390402298	0.17066	0.667692600493	0.59260	0.569454550743	0.48600	T	0.048265	0.27968	T	-0.333939	0.05819	T	-0.448157	0.27900	T	0.366918414831161	0.27678	T	0.908809	0.67676	D	0.06487025	0.13809	0.068195395	0.14210	0.06487025	0.13808	0.068195395	0.14209	-5.889	0.45341	T	.	.	0.091	0.24833	B	.;.;.;.	.;.;.;.	2.701887	0.35291	19.86	0.99228889414485366	0.56151	0.90809	0.52301	D	AEFDBI	0.641947	0.61910	D	0.0995420514628052	0.46439	2.884398	-0.0252163345187117	0.38579	2.274987	0.887726087445702	0.25772	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.23	-2.32	0.06360	2.104000	0.41440	-0.115000	0.11785	-0.106000	0.15538	1.000000	0.71638	0.064000	0.22093	0.994000	0.71098	0.2538:0.1095:0.6367:0.0	6.500	0.21359	664	0.61548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1275.98	34	chr7	140587704	.	G	T	1275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.530e-01;DP=809;ExcessHet=0.0000;FS=2.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.485;SOR=0.471	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1290,0,1474	20	0	1	0
chr7	142154760	142154760	A	G	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon17:c.A1838G:p.N613S,	.	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.173	T	0.370	T	0.072	3.835	19.48	5.68	2.289	6.708	15.204	0.197	0.00807965219213	.	0.00119808	0.0005	0	0	0	0	0.0013	0	0.0001	0.0003234	50	154602	rs145084583	0.0011	0.0010	0.0012	0.0010	0.0253	0.0010	0.0010	0.0213	0.0198	0.0006	0.0014	0.0025	3.115e-05	0	0.0253	0.0009	0.0018	0.0003	0.0007	0.0007	0.0007	0.0006	0.0009	0.0006	0.0005	0.0007	0.0007	0.0003	0	0.0007	0.0026	0.0002	0	0.0136	0.0009	0.0028	0.0006	0.085	0.32769	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6	0.55983	D	0.138	0.13626	-0.1735	0.78342	T	0.370	0.72963	T	4	0.01514712	0.00318	T	0.00808	0.21418	T	0.197	0.47942	.	.	0.128392430309	0.12331	0.43507429597032266	0.43424	.	.	.	.	.	0.655525	0.89598	D	-0.537679	0.00346	T	-0.580494	0.14501	T	0.0871772746648138	0.10879	T	.	.	.	0.061447065	0.12726	0.19447856	0.43072	0.061447065	0.12725	0.19447856	0.43072	-7.134	0.55006	T	.	.	0.1	0.17146	B	.	.	2.704978	0.35341	19.87	0.99784419552450443	0.87043	0.96157	0.67794	D	AEFI	0.763573	0.70063	D	0.243302580268753	0.53307	3.500308	0.266275206764208	0.53580	3.526303	0.999968812836323	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	6.925000	0.75647	.	.	-0.053000	0.16966	0.852000	0.30477	0.200000	0.23563	0.027000	0.12703	1.0:0.0:0.0:0.0	15.204	0.72846	934	0.15400	.	.	.	.	.	.	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	0.04762	1338.11	33	chr7	142154760	.	A	G	1338.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.520e-01;DP=785;ExcessHet=0.1072;FS=3.201;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.460;SOR=0.800	GT:AD:DP:GQ:PL	0/1:25,24:49:99:554,0,625	19	0	2	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,59,2,0:61:99:2593,178,0,2523,99,2603,2605,183,2571,2643	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,59,2,0:61:99:2593,178,0,2523,99,2603,2605,183,2571,2643	0	16	2	0
chr7	143132204	143132204	G	A	exonic	PIP	.	nonsynonymous SNV	PIP:NM_002652:exon1:c.G88A:p.D30N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.128	B	0.063	B	0.510	N	1.000	N	0.345	N	2.51	T	-1.033	T	0.025	T	0.025	2.462	14.19	4.65	2.565	1.152	13.203	0.117	0.00269260645001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.333	0.18395	T	0.128	0.27003	B	0.063	0.27082	B	0.510300	0.11851	N	0.758677	1	0.08975	N	0.695	0.17993	N	2.51	0.14284	T	-1.64	0.39314	N	0.191	0.20925	-1.0330	0.19490	T	0.025	0.10866	T	10	0.27874148	0.45444	T	0.002693	0.05521	T	0.117	0.32689	0.748	0.87905	0.250039746154	0.24611	0.1278068363436218	0.12706	0.0512664367851	0.05640	0.341203510761	0.16618	T	0.15759	0.50025	T	-0.377077	0.03250	T	-0.779421	0.02471	T	0.227196199846702	0.21817	T	0.558444	0.19458	T	0.31009823	0.53795	0.18078317	0.40900	0.31009823	0.53795	0.18078317	0.40899	-3.649	0.18568	T	.	.	0.130	0.27791	B	.	.	2.242606	0.28638	17.86	0.98039001446520635	0.37774	0.45141	0.27473	N	AEFBCI	0.058040	0.10858	N	-0.348151092618836	0.27340	1.499236	-0.253168269189072	0.29662	1.663671	0.00413325740284439	0.10430	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.65	4.65	0.57626	1.168000	0.31468	4.076000	0.41702	0.676000	0.76740	0.862000	0.30648	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	13.203	0.59201	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	33	chr7	143132204	.	G	A	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.900e-01;DP=791;ExcessHet=0.0000;FS=2.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.489;SOR=0.446	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1093,0,1507	20	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	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	.	.	.	.	.	.	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	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,29:109:99:.:.:468,0,1986	3	0	18	0
chr7	150801681	150801681	C	T	exonic	TMEM176A	.	nonsynonymous SNV	TMEM176A:NM_018487:exon2:c.C131T:p.A44V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.3	B	0.045	B	0.145	N	1.000	N	0.345	N	3.22	T	-0.981	T	0.014	T	0.193	0.740	7.929	1.86	0.701	-0.244	6.877	0.039	0.00114920955209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.914e-07	1.368e-06	1.376e-06	0	9.033e-07	0	0	.	.	0	0	0	0	0	0	9.033e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21550	T	0.476	0.12037	T	0.3	0.32550	B	0.045	0.24526	B	0.144585	0.02913	N	2.803570	1	0.19781	N	1.21	0.30464	L	3.22	0.07024	T	-1.24	0.31375	N	0.067	0.04188	-0.9814	0.34678	T	0.014	0.05369	T	10	0.096470445	0.17307	T	0.001149	0.01434	T	0.039	0.10176	0.395	0.42099	0.28492961333	0.28089	0.04747986901983533	0.04690	0.340862838009	0.36025	0.350129246712	0.17940	T	0.005031	0.04462	T	-0.29497	0.09142	T	-0.66148	0.08166	T	0.0955082029104233	0.11856	T	0.422958	0.11265	T	0.061834246	0.12850	0.102120936	0.24467	0.061834246	0.12849	0.102120936	0.24467	-3.704	0.19377	T	.	.	0.129	0.27523	B	.;.	.;.	0.551271	0.09200	5.981	0.90637404214129424	0.19890	0.01350	0.04632	N	AEFDBI	0.317353	0.42137	N	-0.968102255390201	0.09290	0.4390971	-1.01638489003069	0.09424	0.468834	0.999970249044063	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.78	1.86	0.24489	-0.551000	0.06117	0.067000	0.14209	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2754:0.7246:0.0:0.0	6.877	0.23333	759	0.50631	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	769.98	34	chr7	150801681	.	C	T	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.010e+00;DP=725;ExcessHet=0.0000;FS=3.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.38;ReadPosRankSum=1.04;SOR=0.276	GT:AD:DP:GQ:PL	0/1:14,33:47:99:784,0,331	20	0	1	0
chr7	151149131	151149131	C	A	exonic	GBX1	.	nonsynonymous SNV	GBX1:NM_001098834:exon2:c.G550T:p.V184L,	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.002	B	0.002	B	0.009	U	1.000	D	0.345	N	-2.8	D	-0.351	T	0.468	T	0.114	0.961	8.919	5.12	2.398	3.237	13.325	0.186	0.0457042781483	.	.	0.0005	0	0	0	0	0.0003	0.0011	0.0023	0.0003816	59	154602	rs757031253	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	2.988e-05	6.714e-05	0	0	0.0001	0.0003	0.0001	0.0001	0.0018	0.0001	0.0001	0.0002	0.0001	0.0015	9.146e-05	7.702e-05	0.0007	0.0005	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0015	0.33	0.13131	T	0.452	0.12884	T	0.002	0.09854	B	0.002	0.06944	B	0.009292	0.30429	U	0.138248	0.702407	0.30091	N	0.255	0.09829	N	-2.8	0.91076	D	-0.46	0.14978	N	0.042	0.01498	-0.3515	0.73510	T	0.468	0.79497	T	10	0.013121039	0.00279	T	0.045704	0.62109	D	0.186	0.46104	0.262	0.20631	0.856628854582	0.85525	0.07571174283375334	0.07507	0.730581440228	0.62714	0.709222316742	0.68481	T	0.004551	0.03958	T	-0.383473	0.02962	T	-0.330872	0.41371	T	0.0116305838423375	0.00177	T	0.814719	0.46890	T	0.1610981	0.36095	0.15739834	0.36806	0.1610981	0.36095	0.15739834	0.36805	-2.252	0.04300	T	.	.	0.127	0.26917	B	.	.	2.342138	0.30018	18.31	0.91668974463846697	0.20959	0.94115	0.60157	D	AEFDBCI	0.537092	0.55504	D	-0.25105940293182	0.31062	1.73799	-0.0204323576102625	0.38793	2.290655	0.999989098743945	0.51787	0.59774	0.34471	0	0.59043	0.45803	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.12	5.12	0.69459	2.829000	0.47830	4.866000	0.45518	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.8416:0.1584:0.0	13.325	0.59891	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	809.98	33	chr7	151149131	.	C	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.330e-01;DP=770;ExcessHet=0.0000;FS=3.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.38;ReadPosRankSum=1.43;SOR=1.123	GT:AD:DP:GQ:PL	0/1:44,34:78:99:824,0,1155	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	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	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:188,95:283:99:1838,0,5907	4	0	17	0
chr7	158675541	158675541	T	C	exonic	NCAPG2	.	nonsynonymous SNV	NCAPG2:NM_001281933:exon12:c.A1262G:p.K421R	.	.	431	1090	1	0	0	1	0.000458505	.	.	2462597	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.406	B	0.125	B	0.000	D	1.000	D	1.245	L	1.46	T	-0.797	T	0.154	T	0.166	1.922	12.38	4.29	2.059	3.146	8.934	0.027	0.0166587054385	8.4e-05	.	4.146e-05	0	8.651e-05	0	0	3.003e-05	0	0.0001	3.23e-05	5	154602	rs368844202	3.353e-05	3.42e-05	2.179e-05	4.539e-05	0.0004	2.567e-05	2.312e-05	0.0003	0.0003	0	2.244e-05	0	0	0	0.0003	6.295e-06	3.312e-05	0.0004	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0004	0.308	0.14595	T	0.105	0.38305	T	0.284	0.34969	B	0.059	0.32635	B	0.000000	0.84330	D	0.092144	0.92975	0.36936	D	0.855	0.21307	L	1.46	0.32238	T	-0.99	0.26200	N	0.165	0.18376	-0.7968	0.55333	T	0.154	0.48464	T	10	0.124304056	0.23607	T	0.016659	0.38021	T	0.027	0.05988	.	.	0.569928037297	0.56658	0.15422082344010743	0.15343	0.315123132417	0.33798	0.387074798346	0.23256	T	0.145507	0.48266	T	-0.400521	0.02297	T	-0.516905	0.20609	T	0.106740564107895	0.13083	T	0.815218	0.46991	T	0.084015265	0.19426	0.09992024	0.23873	0.084015265	0.19426	0.09992024	0.23873	-7.574	0.58129	D	.	.	0.078	0.06803	B	.;.;.	.;.;.	3.413715	0.47364	22.4	0.9958473882522384	0.73218	0.94242	0.60547	D	AEFBI	0.439520	0.49846	N	0.154345811681035	0.49017	3.106971	0.213621824706724	0.50601	3.250579	0.99998914839875	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	4.29	0.50359	3.111000	0.50053	2.246000	0.31650	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.1456:0.0:0.8544	8.934	0.34846	856	0.34373	.;.;.	.	.	.	.	.	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	0.02381	881.98	34	chr7	158675541	.	T	C	881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=746;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=-2.190e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/1:26,35:61:99:896,0,648	20	0	1	0
chr8	1548758	1548758	C	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon5:c.C305T:p.A102V,	.	.	417	1096	7	2	0	11	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.02	B	0.007	B	0.214	N	0.997	N	0.895	L	2.74	T	-1.003	T	0.077	T	0.125	2.419	14.05	4.95	2.280	3.655	18.180	0.055	.	0.0051	0.00638978	0.0026	0.0207	0.0012	0	0	0.0005	0.0114	0.0061	0.0019857	307	154602	rs200906543	0.0011	0.0011	0.0010	0.0013	0.0175	0.0011	0.0011	0.0163	0.0159	0.0175	0.0013	3.856e-05	0	0	0.0066	0.0003	0.0018	0.0063	0.0050	0.0050	0.0049	0.0051	0.0163	0.0047	0.0046	0.0153	0.0148	0.0163	0	0.0015	0	0	0	0.0103	0.0005	0.0038	0.0050	0.269	0.16091	T	0.575	0.08654	T	0.02	0.18235	B	0.003	0.08700	B	0.214462	0.16286	N	0.649458	0.997435	0.22660	N	0.855	0.21307	L	1.69	0.27032	T	-1.64	0.39314	N	0.386	0.42737	-1.0028	0.29109	T	0.077	0.30767	T	10	0.0039413273	0.00076	T	.	.	.	0.106	0.30130	.	.	0.176862962021	0.17281	0.14055523378768475	0.13978	0.0996193021049	0.11245	0.555040061474	0.46567	T	0.013082	0.25202	T	-0.600923	0.00144	T	-0.622335	0.11003	T	0.046898737339372	0.04948	T	0.830517	0.49623	T	0.086523734	0.20114	0.15643938	0.36626	0.086523734	0.20114	0.15643938	0.36626	-3.346	0.14338	T	.	.	0.075	0.08899	B	.;.;.	.;.;.	3.288786	0.45099	22.1	0.99270142305418196	0.57525	0.90990	0.52646	D	AEFDBHCI	0.493267	0.52955	N	-0.00652346610670941	0.41560	2.488034	0.00797979600844272	0.40083	2.386656	0.999999999985778	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.440796	0.06475	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	3.754000	0.54903	4.732000	0.44559	0.597000	0.34315	0.987000	0.36337	0.497000	0.25183	0.479000	0.28543	0.0:1.0:0.0:0.0	18.180	0.89705	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	0.02381	748.98	40	chr8	1548758	.	C	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=871;ExcessHet=0.0000;FS=2.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.029e+00;SOR=0.997	GT:AD:DP:GQ:PL	0/1:36,28:64:99:763,0,870	20	0	1	0
chr8	1633019	1633019	A	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon8:c.A1783T:p.I595F,	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.21	B	0.071	B	0.079	N	0.988	N	1.245	L	2.35	T	-1.030	T	0.013	T	0.137	-0.492	1.739	-0.273	-0.211	1.971	1.375	0.051	.	0.0027	0.00439297	0.0009	0.0111	0	0	0	2.997e-05	0.0011	0	0.0009379	145	154602	rs139590326	0.0003	0.0003	0.0004	0.0003	0.0121	0.0003	0.0003	0.0111	0.0107	0.0121	0.0003	0	0	0	0.0002	3.598e-06	0.0008	4.637e-05	0.0032	0.0032	0.0036	0.0028	0.0114	0.0030	0.0029	0.0105	0.0102	0.0114	0	0.0009	0	0	0	0.0034	0	0.0019	0	.	.	.	0.08	0.41913	T	0.043	0.21573	B	0.032	0.22131	B	0.079003	0.21009	N	0.567453	0.987502	0.24510	N	2.125	0.59049	M	.	.	.	.	.	.	0.36	0.40164	-1.0300	0.20454	T	0.013	0.05033	T	10	0.004541427	0.00094	T	.	.	.	0.051	0.14325	.	.	0.179529687257	0.17594	0.14574791906586776	0.14497	0.173584863515	0.19547	0.3547488451	0.18619	T	0.030482	0.34621	T	-0.604341	0.00137	T	-0.631476	0.10304	T	0.0237264279689032	0.01110	T	0.952805	0.82030	D	0.025620116	0.01520	0.045484066	0.06130	0.025620116	0.01520	0.045484066	0.06129	-3.069	0.10943	T	.	.	0.077	0.08224	B	.;.;.	.;.;.	1.079143	0.14619	11.18	0.21258826704973677	0.00802	0.75885	0.37179	D	AEFDBI	0.173420	0.30050	N	-0.793632569268343	0.13475	0.6640877	-0.793961441833235	0.14643	0.7661566	1.30027810396082E-4	0.05386	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.06	-0.273	0.12276	2.032000	0.40747	-1.165000	0.06141	-0.042000	0.17409	1.000000	0.71638	0.000000	0.08366	0.375000	0.26223	0.5107:0.1371:0.221:0.1312	1.375	0.02086	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2045.98	34	chr8	1633019	.	A	T	2045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=891;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=-1.442e+00;SOR=0.865	GT:AD:DP:GQ:PL	0/1:116,82:198:99:2060,0,3066	20	0	1	0
chr8	2001280	2001280	C	G	exonic	KBTBD11	.	nonsynonymous SNV	KBTBD11:NM_014867:exon2:c.C88G:p.P30A,	.	.	.	.	.	.	.	.	.	.	.	2250129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.551	N	1.000	N	0.695	N	-1.32	T	-0.886	T	0.242	T	0.073	0.628	7.375	1.46	0.443	0.032	3.157	0.135	0.0392008212231	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010143099	1.023e-05	9.577e-06	1.3e-05	7.387e-06	0.0003	5.93e-06	4.64e-06	0.0002	0.0001	0.0003	0	0	0	0	0	9.31e-07	5.262e-05	0	5.26e-05	5.251e-05	6.431e-05	4.035e-05	0.0002	2.559e-05	1.831e-05	4.73e-05	3.047e-05	0.0001	0	0.0001	0	0	0	0	0	0	0.0002	0.768	0.03402	T	0.397	0.15157	T	0.001	0.07471	B	0.001	0.04355	B	0.550979	0.05370	N	1.374960	1	0.08975	N	0.205	0.09354	N	-1.32	0.79761	T	-0.06	0.07882	N	0.073	0.04668	-0.8861	0.49265	T	0.242	0.60988	T	10	0.034498334	0.01660	T	0.039201	0.58670	D	0.135	0.36572	0.139	0.04277	0.667304291113	0.66450	0.08711662438454149	0.08644	1.00697876116	0.74614	0.617609977722	0.55391	T	0.007984	0.07346	T	-0.22053	0.17920	T	-0.554552	0.16892	T	0.035640936344862	0.02918	T	.	.	.	0.02273877	0.00958	0.026200134	0.00697	0.02273877	0.00958	0.026200134	0.00697	-3.731	0.19776	T	.	.	0.052	0.00207	B	.	.	1.088788	0.14723	11.27	0.80592925759776934	0.13276	0.11024	0.16356	N	AEFDBHCI	0.050678	0.08881	N	-1.15849906577225	0.05641	0.2577096	-1.10129649007765	0.07676	0.3743022	0.999999998045208	0.74766	0.685219	0.55550	0	0.573888	0.26702	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.37	1.46	0.21769	-0.411000	0.07205	0.094000	0.14556	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.1402:0.5538:0.1368:0.1692	3.157	0.06119	964	0.07719	.	.	.	.	.	.	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	1	0	0	0	0.02381	557.98	33	chr8	2001280	.	C	G	557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.125;SOR=0.610	GT:AD:DP:GQ:PL	0/1:21,24:45:99:572,0,499	20	0	1	0
chr8	2129228	2129228	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon32:c.C3796T:p.H1266Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.526	P	0.234	B	0.000	D	0.994	D	1.545	L	1.3	T	-1.015	T	0.104	T	0.703	1.785	11.93	5.6	2.620	5.346	18.387	0.194	0.0101265944791	.	.	8.246e-06	9.623e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs530793018	2.751e-06	2.736e-06	2.735e-06	2.767e-06	8.99e-05	6.4e-07	4.3e-07	2.382e-05	1.26e-05	8.99e-05	0	0	0	0	0	9.046e-07	0	0	5.253e-05	5.25e-05	5.139e-05	5.371e-05	0.0002	2.555e-05	1.829e-05	9.545e-05	6.948e-05	0.0002	0	0	0	0	0	0	0	0	0	0.081	0.33418	T	0.173	0.30143	T	.	.	.	.	.	.	0.000000	0.84330	D	0.047469	0.993853	0.42076	D	.	.	.	1.3	0.35590	T	-3.75	0.72932	D	0.686	0.69213	-1.0154	0.25207	T	0.104	0.38267	T	10	0.43137452	0.57513	T	0.010127	0.26302	T	0.194	0.47447	.	.	0.380901646489	0.37697	0.642020210204926	0.64137	0.0109615481323	0.01019	0.596819758415	0.52456	T	.	.	.	-0.170268	0.25194	T	-0.20292	0.54369	T	0.332330852746964	0.26318	T	0.825517	0.48813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.58727	A	.;.	.;.	3.220099	0.43869	21.8	0.98271234322959278	0.39759	0.90189	0.51171	D	AEFBI	0.731303	0.67842	D	0.173826291078452	0.49945	3.189441	0.241007371778856	0.52140	3.390829	0.999999999821752	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	5.776000	0.68576	7.374000	0.58414	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	18.387	0.90413	964	0.07719	.;.	.	.	.	.	.	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	0.02381	547.98	38	chr8	2129228	.	C	T	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.455e+00;DP=802;ExcessHet=0.0000;FS=1.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=1.10;SOR=0.810	GT:AD:DP:GQ:PL	0/1:31,24:55:99:562,0,911	20	0	1	0
chr8	6436081	6436081	A	G	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon5:c.A355G:p.K119E	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2413311	Inborn_genetic_diseases|Microcephaly_1,_primary,_autosomal_recessive	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.995	D	0.82	P	0.001	N	1.000	N	2.485	M	3.48	T	-1.095	T	0.055	T	0.283	3.403	17.49	4.26	2.207	3.794	11.343	0.104	0.0103285162089	.	.	4.983e-05	0	0	0.0006	0	1.504e-05	0	0	3.88e-05	6	154602	rs764901131	1.163e-05	1.163e-05	6.808e-06	1.651e-05	0.0003	7.09e-06	5.79e-06	0.0002	0.0001	0	0	0	0.0003	0	0	2.698e-06	3.312e-05	0	2.627e-05	2.627e-05	0	5.377e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.359e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	0.106	0.37118	T	0.01	0.67890	D	0.962	0.55554	D	0.706	0.54345	P	0.001362	0.39242	N	0.306608	0.999999	0.19363	N	2.51	0.73131	M	3.48	0.08547	T	-2.23	0.52612	N	0.379	0.47487	-1.0954	0.04695	T	0.055	0.23224	T	10	0.10401788	0.19153	T	0.010329	0.26741	T	0.104	0.29647	0.383	0.40134	0.624499334446	0.62144	0.2413891580590586	0.24052	.	.	0.410815298557	0.26570	T	0.230519	0.59661	T	-0.437462	0.01338	T	-0.490315	0.23359	T	0.22530827582572	0.21726	T	.	.	.	0.14560603	0.33369	0.13486923	0.32308	0.14560603	0.33368	0.13486923	0.32307	-10.905	0.79134	D	.	.	0.372	0.60646	A	.;.;.	.;.;.	4.145304	0.62139	24.4	0.99839339449636366	0.91972	0.68818	0.33947	D	AEBI	0.165421	0.29191	N	0.41542004713543	0.62269	4.440094	0.329616786781489	0.57288	3.893882	0.999254713125549	0.38906	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.49	4.26	0.49832	3.257000	0.51201	7.301000	0.58090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.8492:0.1508:0.0:0.0	11.343	0.48782	973	0.05605	.;.;.	.	.	.	.	.	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	0.02381	603.98	33	chr8	6436081	.	A	G	603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.535e+00;DP=747;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.240e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:22,29:51:99:618,0,547	20	0	1	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/1:50,25,0:75:99:881,0,2022,1032,2099,3131	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/1:50,25,0:75:99:881,0,2022,1032,2099,3131	7	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	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	.	.	.	.	.	.	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	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,56:190:99:0|1:10609944_A_G:1104,0,4680:10609944	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	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	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,55,0:188:99:0|1:10609944_A_G:1125,0,4633,1524,4795,6319:10609944	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	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	.	.	.	.	.	.	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	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,55,0:188:99:0|1:10609944_A_G:1125,0,4633,1524,4795,6319:10609944	0	0	15	4
chr8	10826196	10826196	G	A	exonic	PINX1	.	nonsynonymous SNV	PINX1:NM_001284356:exon5:c.C350T:p.S117F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.945	M	2.57	T	1.046	D	0.985	D	0.828	4.831	27.4	5.55	2.602	6.911	17.009	0.806	0.781326311384	.	.	0.0002	0.0001	0.0001	0	0	0	0.0013	0.0012	0.0001229	19	154602	rs770567828	5.119e-05	5.404e-05	1.515e-05	8.757e-05	0.0009	4.171e-05	3.82e-05	0.0007	0.0006	0	0	0	0	0	0	0	3.346e-05	0.0009	3.941e-05	3.938e-05	0	8.06e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.003	0.72154	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	-6.07	0.99513	D	-4.39	0.87380	D	0.691	0.90476	1.046	0.98037	D	0.985	0.99544	D	10	0.76367	0.76538	D	0.781326	0.98278	D	0.806	0.93699	0.391	0.41443	0.848615917597	0.84716	0.5605244538731351	0.55979	0.0029161672152	0.00252	.	.	.	0.525275	0.83472	D	0.205167	0.74375	D	0.40865	0.92391	D	0.84132444858551	0.49436	D	0.89891	0.64583	D	0.6525525	0.75500	0.43338782	0.66893	0.6525525	0.75501	0.43338782	0.66894	-12.515	0.87269	D	.	.	0.927	0.90020	P	.;.;.;.	.;.;.;.	5.373898	0.90085	31	0.99860900719891543	0.93911	0.98277	0.81186	D	AEFBI	0.751225	0.69210	D	0.917096502287606	0.92571	11.50059	0.868332468970398	0.94041	12.46084	0.999999999880276	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.55	5.55	0.83298	7.474000	0.80024	9.837000	0.81899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.009	0.86275	923	0.18507	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1502.98	38	chr8	10826196	.	G	A	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.420e-01;DP=1086;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=0.127;SOR=0.690	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1517,0,1389	20	0	1	0
chr8	11779923	11779923	G	T	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon2:c.G281T:p.R94M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.964	D	0.005	N	1.000	D	2.215	M	3.25	T	-0.921	T	0.081	T	0.641	2.456	14.17	2.9	0.692	1.911	10.758	0.212	0.0237089064131	.	0.000199681	8.271e-06	9.696e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs563813073	4.105e-06	4.104e-06	2.723e-06	5.5e-06	2.987e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	0	0	6.567e-06	6.561e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.01	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.005207	0.32996	N	0.341091	0.692273	0.81001	D	1.73	0.44655	L	2.54	0.13916	T	-2.17	0.49018	N	0.603	0.62950	-0.9215	0.45348	T	0.081	0.32060	T	10	0.4980644	0.61384	T	0.023709	0.46682	T	0.212	0.50341	0.483	0.56462	0.44143026662	0.43763	0.5045281640101561	0.50374	0.0156104378434	0.01492	0.481372654438	0.36245	T	0.114375	0.43213	T	-0.195973	0.21387	T	-0.33775	0.40600	T	0.618911981582642	0.37161	D	0.746125	0.36682	T	0.1048491	0.24787	0.12732084	0.30651	0.1048491	0.24787	0.12732084	0.30651	-6.397	0.54209	T	.	.	0.333	0.60878	B	.;.;.;.	.;.;.;.	3.111276	0.41967	21.5	0.95810733170794282	0.27883	0.87162	0.46619	D	AEFBI	0.274919	0.39000	N	0.141664927228736	0.48418	3.054301	0.0312110621638671	0.41171	2.469162	0.975467426589583	0.29635	0.626454	0.40138	0	0.633656	0.55848	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.72	2.9	0.32809	2.026000	0.40689	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.1575:0.0:0.8425:0.0	10.758	0.45447	958	0.09170	Formamidopyrimidine-DNA glycosylase, catalytic domain;Formamidopyrimidine-DNA glycosylase, catalytic domain;.;Formamidopyrimidine-DNA glycosylase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	666.98	34	chr8	11779923	.	G	T	666.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.520e-01;DP=769;ExcessHet=0.0000;FS=3.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-8.700e-01;SOR=0.352	GT:AD:DP:GQ:PL	0/1:37,30:67:99:681,0,950	20	0	1	0
chr8	12132683	12132683	G	C	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.C1327G:p.Q443E,	.	.	502	1015	4	1	0	6	0.00294695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.289e-06	0	0	0	0	1.664e-05	0	0	3.84e-05	1	26028	rs756462032	6.861e-05	0.0010	3.976e-05	9.784e-05	0.0008	5.741e-05	5.335e-05	0.0007	0.0006	0.0001	4.638e-05	0	8.707e-05	0.0001	0	1.583e-05	1.737e-05	0.0008	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.344	0.17804	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.305	0.65957	M	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	0.13610211	0.25895	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.01828315521831455	0.01782	.	.	.	.	.	0.016376	0.13546	T	-0.0604509	0.42838	T	-0.32461	0.42067	T	.	.	.	0.667933	0.27701	T	0.30113333	0.53006	0.3827617	0.63255	0.30113333	0.53006	0.3827617	0.63255	-2.88	0.08945	T	.	.	0.072	0.04119	B	.	.	1.284528	0.16845	12.80	0.35643223090398568	0.02248	0.07122	0.13148	N	AEFBI	.	.	.	.	.	.	.	.	.	4.22671077845571E-5	0.03989	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0474583	0.06657	.	.	.	1.181000	0.31626	-1.223000	0.05981	0.432000	0.20950	0.997000	0.40164	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	70.7	557	chr8	12132683	.	G	C	70.7	.	AC=2;AF=0.050;AN=40;DP=2524;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8832;MLEAC=1;MLEAF=0.025;MQ=46.50;QD=26.29;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:12132683_G_C:90,6,0:12132683	19	1	0	1
chr8	12138525	12138525	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G236A:p.G79E,	.	.	591	913	16	2	0	20	0.0108342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	0.999	D	3.665	H	3.44	T	-1.047	T	0.072	T	0.418	2.819	15.39	0.745	0.733	4.998	7.438	0.144	0.00171972351428	.	.	7.753e-05	0.0001	0	0.0001	0	6.827e-05	0	0.0001	4.53e-05	7	154602	rs201032518	0.0018	0.0063	0.0014	0.0023	0.0128	0.0018	0.0017	0.0121	0.0118	0.0004	0.0018	0.0003	0.0042	0.0027	0.0010	0.0010	0.0017	0.0128	0.0009	0.0036	0.0007	0.0011	0.0069	0.0008	0.0007	0.0048	0.0041	0.0001	0	0.0011	0	0.0019	0.0014	0	0.0009	0	0.0069	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.000000	0.998806	0.45475	D	3.69	0.94526	H	3.44	0.05375	T	-6.93	0.93404	D	0.605	0.62273	-1.0473	0.15159	T	0.072	0.29387	T	10	0.46278515	0.59387	T	0.00172	0.02882	T	0.144	0.38394	.	.	0.643127189037	0.64018	0.09958374844969137	0.09889	1.3443435746	0.83939	0.582196474075	0.50394	T	0.111641	0.42729	T	-0.0818442	0.39416	T	-0.35534	0.38590	T	0.790776968002319	0.45741	D	0.860314	0.55333	D	0.7436556	0.80502	0.470007	0.69265	0.7436556	0.80503	0.470007	0.69265	-10.699	0.77981	D	.	.	0.614	0.69452	P	.	.	3.342615	0.46062	22.2	0.99199783208081638	0.55231	0.64391	0.32392	D	AEFBI	0.371542	0.45751	N	0.204690972063235	0.51425	3.32394	-0.135026311921286	0.33990	1.950213	0.00691229304308845	0.11340	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	5.734000	0.68224	2.400000	0.32587	0.281000	0.18624	0.998000	0.41325	0.013000	0.20296	0.201000	0.21925	0.0:0.9999:0.0:1.0E-4	7.438	0.26336	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05263	640.56	315	chr8	12138525	.	C	T	640.56	.	AC=2;AF=0.053;AN=38;DP=4320;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=35.33;QD=27.85;SOR=2.400	GT:AD:DP:GQ:PL	1/1:0,23:23:69:667,69,0	18	1	0	2
chr8	17027610	17027610	C	T	exonic	MICU3	.	nonsynonymous SNV	MICU3:NM_001349810:exon1:c.C331T:p.P111S	.	.	396	1078	41	7	0	55	0.0248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.093	B	0.029	B	0.403	N	1.000	N	0.205	N	0.96	T	-1.021	T	0.048	T	0.094	0.408	6.215	2.43	0.975	0.039	8.086	0.013	.	.	0.00738818	0.1094	0	0.5	.	.	0.0789	.	0.1667	0.0013454	208	154602	rs200500624	0.0069	0.0065	0.0066	0.0072	0.0275	0.0068	0.0067	0.0262	0.0256	0.0009	0.0029	0.0306	0.0001	0.0049	0.0154	0.0060	0.0080	0.0275	0.0054	0.0054	0.0050	0.0058	0.0230	0.0051	0.0050	0.0195	0.0182	0.0011	0	0.0047	0.0323	0	0.0038	0.0034	0.0062	0.0071	0.0230	0.125	0.27310	T	0.603	0.07868	T	0.093	0.25333	B	0.029	0.21540	B	0.402710	0.13103	N	0.660243	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	0.18	0.05035	N	0.173	0.18512	-1.0207	0.23486	T	0.048	0.20592	T	10	0.0014694929	0.00016	T	.	.	.	0.013	0.01715	.	.	0.0482279557977	0.04254	0.3599911044625781	0.35913	0.837194812772	0.67860	0.707130551338	0.68177	T	0.010703	0.09641	T	-0.530585	0.00381	T	-0.519989	0.20296	T	0.0405243162023735	0.03785	T	0.613539	0.23382	T	0.035434525	0.04169	0.07964865	0.17948	0.035434525	0.04168	0.07964865	0.17948	-3.528	0.16826	T	.	.	0.069	0.03231	B	.	.	1.446864	0.18675	13.86	0.89330916088496692	0.18705	0.02607	0.07180	N	AEFDBHCIJ	0.030292	0.03020	N	-1.24428004204296	0.04375	0.1973425	-1.2315283229291	0.05410	0.2577218	0.999999648656108	0.74766	0.009712	0.00066	3	0.435331	0.06439	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.31	2.43	0.28797	0.122000	0.15515	0.668000	0.20568	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.2414:0.7586:0.0:0.0	8.086	0.29935	829	0.39537	.	.	.	.	.	.	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	0.09524	1684.9	25	chr8	17027610	.	C	T	1684.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.42;DP=617;ExcessHet=0.0082;FS=0.862;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=0.615;SOR=0.820	GT:AD:DP:GQ:PL	0/1:18,15:33:99:350,0,379	18	1	2	0
chr8	17564991	17564991	G	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon12:c.G1822C:p.E608Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.942	P	0.562	P	0.000	D	1.000	D	0.805	L	-2.45	D	0.254	D	0.609	D	0.849	3.958	20.2	5.51	2.753	8.987	19.802	0.565	0.0692955578607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.375e-06	2.24e-05	2.3e-07	9e-08	.	.	0	2.24e-05	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.188	0.32461	T	0.942	0.52977	P	0.562	0.49608	P	0.000066	0.52346	D	0.195556	1	0.81001	D	0.695	0.17993	N	-2.45	0.89953	D	-1.78	0.42001	N	0.699	0.83167	0.254	0.86817	D	0.609	0.86157	D	10	0.57750213	0.65663	D	0.069296	0.70689	D	0.565	0.82232	0.201	0.11522	0.921200191938	0.92040	0.5793785699513329	0.57866	0.0387551026412	0.04121	0.432426542044	0.29540	T	0.187097	0.54060	T	0.34166	0.85945	D	0.252995	0.85761	D	0.721070647239685	0.41753	D	0.870113	0.57479	D	0.25648478	0.48688	0.15179949	0.35742	0.25648478	0.48688	0.15179949	0.35741	-5.707	0.45264	T	.	.	0.277	0.52809	B	.;.;.;.;.;.	.;.;.;.;.;.	4.067491	0.60414	24.2	0.99700096285523854	0.80591	0.98243	0.80867	D	AEFBCI	0.934964	0.92912	D	0.517207928001308	0.68109	5.171946	0.596577991272818	0.74694	6.180744	0.999999999590578	0.74766	0.744818	0.98587	0	0.573888	0.26702	0	0.732433	0.93434	0	0.735409	0.98432	0	.	.	5.51	5.51	0.81769	7.646000	0.82603	11.880000	0.98808	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	19.802	0.96506	839	0.37672	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	941.98	38	chr8	17564991	.	G	C	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-3.590e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:36,34:70:99:956,0,869	20	0	1	0
chr8	17989928	17989928	A	C	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon25:c.A4315C:p.S1439R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.59	L	-0.65	T	-0.035	T	0.465	T	0.885	3.578	18.23	5.17	2.096	7.825	15.333	0.576	0.114989843717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs576672549	5.74e-06	5.473e-06	1.416e-06	1.018e-05	1.276e-05	2.47e-06	1.79e-06	2.71e-06	1.74e-06	0	0	0	0	0	0	6.51e-06	0	1.276e-05	6.575e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.001	0.78490	D	0.006	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.65	0.72237	T	-2.57	0.55501	D	0.806	0.80180	-0.0345	0.81536	T	0.465	0.79295	T	10	0.78545535	0.78207	D	0.11499	0.79402	D	0.576	0.82855	0.264	0.20946	0.99146276102	0.99137	0.50028635489063	0.49949	.	.	0.6036413908	0.53418	T	.	.	.	0.355947	0.86934	D	0.284335	0.87358	D	0.972036182880402	0.69544	D	0.970103	0.89229	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.980	0.91043	P	.;.;.;.	.;.;.;.	4.600333	0.72850	25.9	0.99521520060158242	0.69284	0.99689	0.98687	D	AEFBI	0.914926	0.87900	D	0.693064507807364	0.79176	7.023111	0.690924198340721	0.81690	7.585845	0.999889391196482	0.44867	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.17	5.17	0.70848	7.853000	0.85257	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.333	0.73942	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1091.98	35	chr8	17989928	.	A	C	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.959e+00;DP=773;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=0.291;SOR=0.492	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1106,0,781	20	0	1	0
chr8	22571127	22571127	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_001018003:exon7:c.G623A:p.R208H	.	.	429	1076	14	3	0	20	0.0092081	.	.	736591	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.004	B	0.002	B	0.458	N	1.000	N	-0.035	N	3.24	T	-0.992	T	0.018	T	0.405	0.144	4.777	-1.37	-0.191	-0.120	5.441	0.028	0.00379105092033	0.0029	0.00139776	0.0023	0.0008	0.0017	0.0001	0.0012	0.0035	0.0012	0.0003	0.0024515	379	154602	rs34059820	0.0031	0.0031	0.0031	0.0031	0.0040	0.0030	0.0030	0.0035	0.0035	0.0005	0.0017	0.0010	2.522e-05	0.0012	0.0040	0.0036	0.0035	0.0005	0.0022	0.0022	0.0026	0.0018	0.0037	0.0020	0.0019	0.0033	0.0031	0.0007	0	0.0028	0.0009	0	0.0006	0.0068	0.0037	0.0014	0.0006	0.149	0.24758	T	0.124	0.35455	T	0.004	0.12183	B	0.002	0.06944	B	0.458360	0.12422	N	0.658159	1	0.08975	N	0.55	0.14455	N	3.24	0.14783	T	-0.47	0.15178	N	0.037	0.01203	-0.9917	0.32167	T	0.018	0.07376	T	10	0.0045835674	0.00095	T	0.003791	0.08837	T	0.037	0.09474	.	.	0.28058544554	0.27657	0.32226341383448587	0.32139	0.136299683777	0.15377	0.319998681545	0.13421	T	0.065093	0.32602	T	-0.538305	0.00343	T	-0.54717	0.17599	T	0.00203285094609773	0.00021	T	0.505249	0.25529	T	0.021743653	0.00794	0.017744385	0.00038	0.021743653	0.00794	0.017744385	0.00038	-3.678	0.19422	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	0.597675	0.09663	6.433	0.97125673577235394	0.32473	0.10443	0.15949	N	AEFDBCI	0.082205	0.16642	N	-1.13940780157747	0.05956	0.2729308	-1.15917522011607	0.06605	0.318468	0.999720587285986	0.42220	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.76	-1.37	0.08582	-0.284000	0.08456	0.410000	0.18100	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.026000	0.12556	0.383:0.0:0.4823:0.1347	5.441	0.15809	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	489.98	34	chr8	22571127	.	G	A	489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.170e-01;SOR=0.850	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,19:47:99:0|1:22571127_G_A:504,0,784:22571127	20	0	1	0
chr8	23202698	23202698	T	G	exonic	TNFRSF10A	.	nonsynonymous SNV	TNFRSF10A:NM_003844:exon3:c.A467C:p.N156T,	.	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.094	B	0.101	B	0.038	U	1.000	N	1.01	L	-2.79	D	-0.709	T	0.461	T	0.027	-2.509	0.003	-6.96	-3.562	-1.849	13.510	0.258	0.125756048256	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs532602797	8.209e-06	8.209e-06	5.445e-06	1.1e-05	2.319e-05	4.38e-06	3.46e-06	3.85e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	3.312e-05	2.319e-05	5.254e-05	5.249e-05	5.14e-05	5.373e-05	7.351e-05	2.556e-05	1.829e-05	2.847e-05	1.858e-05	4.814e-05	0	0	0	0	0	0	7.351e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.101	0.30765	B	0.037669	0.24374	U	0.389346	1	0.08975	N	1.245	0.31408	L	-2.79	0.91019	D	-1.17	0.29933	N	0.194	0.21319	-0.7087	0.60016	T	0.461	0.79072	T	10	0.048472166	0.04302	T	0.125756	0.80732	D	0.258	0.56959	0.371	0.38176	0.207176502487	0.20327	0.4410661694625493	0.44023	0.0717915256234	0.08045	0.281954586506	0.07767	T	0.088998	0.38279	T	-0.292464	0.09389	T	-0.52743	0.19543	T	0.0629354845365314	0.07622	T	0.308669	0.05963	T	0.1753728	0.38392	0.13961543	0.33306	0.1753728	0.38392	0.13961543	0.33305	-7.021	0.54187	T	.	.	0.161	0.35581	B	.	.	-1.837897	0.00145	0.002	0.39413969708547042	0.02718	0.01584	0.05157	N	AEFDBHI	0.024214	0.01464	N	-2.08624935699161	0.00137	0.005874685	-2.21742680832755	0.00102	0.004496173	0.999999737660593	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.48	-6.96	0.01465	-2.064000	0.01475	-20.000000	0.00162	-1.435000	0.01110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6628:0.2088:0.1283	13.510	0.60964	772	0.48957	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumor necrosis factor receptor 10, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2765.98	38	chr8	23202698	.	T	G	2765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=905;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=0.670;SOR=0.586	GT:AD:DP:GQ:PL	0/1:97,108:205:99:2780,0,2381	20	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	1.01	L	-1.48	T	-0.003	T	0.531	D	0.963	3.136	16.48	5.11	1.919	9.339	13.703	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	2023.96	49	chr8	28527857	.	A	C	2023.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.128e+00;DP=3491;ExcessHet=6.1002;FS=238.297;InbreedingCoeff=-0.3837;MLEAC=11;MLEAF=0.306;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=3.10;SOR=12.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,44:186:99:.:.:193,0,3280	8	0	10	3
chr8	30843377	30843377	G	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.C6790G:p.L2264V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.788	N	1.845	L	2.24	T	-1.001	T	0.101	T	0.635	2.838	15.45	5.82	2.765	3.303	12.919	0.113	0.00734289770254	.	.	9.093e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs763583018	6.162e-05	6.156e-05	3.133e-05	9.22e-05	0.0010	5.099e-05	4.719e-05	0.0008	0.0008	0	0	0	0	0	0	8.995e-07	4.971e-05	0.0010	3.946e-05	3.941e-05	2.571e-05	5.387e-05	0.0012	1.717e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000137	0.49741	D	0.000000	0.788311	0.29255	N	1.625	0.41611	L	2.24	0.17923	T	-2.53	0.54864	D	0.617	0.63289	-1.0011	0.29602	T	0.101	0.37493	T	10	0.117240876	0.22136	T	0.007343	0.19469	T	0.113	0.31778	0.25	0.18757	0.345632371893	0.34166	0.07487297666666216	0.07423	0.201576101078	0.22562	0.440563380718	0.30653	T	0.401527	0.75881	T	-0.322856	0.06666	T	-0.313242	0.43309	T	0.221147641539574	0.21521	T	0.765923	0.39354	T	0.27795193	0.50850	0.22945933	0.48018	0.24013376	0.46912	0.26013556	0.51771	-4.691	0.33295	T	.	.	0.208	0.43462	B	.;.;.	.;.;.	3.906054	0.56931	23.8	0.99793809286357682	0.87928	0.88578	0.48571	D	AEFBI	0.443138	0.50057	N	0.721099717440585	0.81014	7.424401	0.719439756221288	0.83856	8.132527	0.99100051172657	0.32341	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	3.602000	0.53818	8.749000	0.78216	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0776:0.0:0.9224:0.0	12.919	0.57614	740	0.53092	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1773.98	33	chr8	30843377	.	G	C	1773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.037e+00;DP=1391;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-1.515e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1788,0,2528	20	0	1	0
chr8	42865438	42865438	C	T	exonic	RNF170	.	nonsynonymous SNV	RNF170:NM_001160223:exon5:c.G374A:p.S125N	Ataxia, sensory, 1, autosomal dominant, Autosomal dominant	.	3	1475	41	3	0	47	0.0156823	.	.	512913	not_provided|not_specified|Autosomal_dominant_sensory_ataxia_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012166,MedGen:C1837015,OMIM:608984	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.068	B	0.084	B	0.000	D	1.000	D	1.09	L	-2.09	D	-0.459	T	0.378	T	0.017	1.718	11.70	5.4	2.535	1.811	9.795	0.320	0.0218653605891	0.0032	0.00259585	0.0047	0.0004	0.0029	0	0.0024	0.0051	0.0089	0.0100	0.0043596	674	154602	rs144435181	0.0038	0.0039	0.0036	0.0041	0.0146	0.0038	0.0037	0.0121	0.0111	0.0005	0.0034	0.0144	0	0.0019	0.0146	0.0033	0.0053	0.0098	0.0037	0.0037	0.0034	0.0039	0.0100	0.0034	0.0033	0.0077	0.0069	0.0005	0	0.0086	0.0135	0	0.0029	0.0068	0.0039	0.0071	0.0100	0.408	0.10212	T	0.556	0.09725	T	0.068	0.23728	B	0.084	0.29270	B	0.000021	0.62929	D	0.210170	0.853382	0.81001	D	0.905	0.23240	L	-2.09	0.86077	D	0.17	0.05917	N	0.112	0.13055	-0.4586	0.70115	T	0.378	0.73550	T	10	0.0070908964	0.00161	T	0.021865	0.44695	T	0.320	0.64215	.	.	0.171220215726	0.16700	0.3583455209283506	0.35748	0.32656759674	0.34803	0.572874188423	0.49083	T	0.140864	0.47562	T	-0.468022	0.00875	T	-0.437096	0.29135	T	0.00973829499160102	0.00128	T	0.89861	0.64536	D	0.0778557	0.17695	0.10005769	0.23911	0.09718821	0.22905	0.0956821	0.22702	-7.756	0.59396	D	0.10193980457781364	0.07691	0.172	0.37764	B	.;.;.;.	.;.;.;.	2.904102	0.38503	20.7	0.93167249474562985	0.22821	0.81443	0.40845	D	AEFBI	0.170475	0.29738	N	-0.0911891641231564	0.37778	2.20285	0.101242349287037	0.44613	2.739609	0.00148805964611439	0.08576	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	1.834000	0.38811	5.888000	0.50725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8469:0.0:0.1531	9.795	0.39898	288	0.88579	.;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	922.98	33	chr8	42865438	.	C	T	922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.720;DP=749;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.212;SOR=0.919	GT:AD:DP:GQ:PL	0/1:41,39:80:99:937,0,949	20	0	1	0
chr8	48043139	48043139	G	A	exonic	UBE2V2	.	nonsynonymous SNV	UBE2V2:NM_003350:exon2:c.G123A:p.M41I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.003	B	0.000	D	1.000	D	0.57	N	1.42	T	-1.096	T	0.059	T	0.815	1.921	12.38	4.89	1.438	9.698	14.715	0.292	0.00579930350009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.07378	T	0.915	0.08930	T	0.0	0.02946	B	0.003	0.08700	B	0.000000	0.84330	D	0.033973	0.999954	0.81001	D	1.22	0.30592	L	1.23	0.36872	T	-3.55	0.68764	D	0.682	0.83576	-1.0959	0.04625	T	0.059	0.24797	T	10	0.4142127	0.61810	T	0.005799	0.15072	T	0.349	0.67049	0.477	0.55502	0.592110308708	0.58887	0.6457749516065192	0.64512	0.766433794634	0.64532	0.873921513557	0.93123	D	0.163586	0.50870	T	0.111	0.65477	D	-0.0780449	0.65047	T	0.881923615932465	0.53201	D	0.938506	0.76886	D	0.60342664	0.72875	0.6403629	0.78990	0.60342664	0.72876	0.6403629	0.78991	-5.857	0.45067	T	.	.	0.777	0.76259	P	.;.;.;.	.;.;.;.	4.844440	0.79118	27.0	0.96941664290118257	0.31699	0.98783	0.86796	D	AEFBI	0.930459	0.91779	D	-0.0444632869917207	0.39850	2.356804	0.179115515771915	0.48703	3.082758	0.999999984349087	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.76	4.89	0.63387	9.893000	0.98592	11.680000	0.94210	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0696:0.0:0.9304:0.0	14.715	0.68874	531	0.73574	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	57.49	84	chr8	48043139	.	G	A	57.49	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.560e-01;DP=1071;ExcessHet=0.1072;FS=90.572;InbreedingCoeff=-0.0781;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.759;SOR=7.111	GT:AD:DP:GQ:PL	0/1:52,18:70:32:32,0,931	18	0	2	1
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.995	D	0.000	D	1.000	D	1.315	L	1.82	T	-1.059	T	0.129	T	0.464	5.167	32	5.15	2.555	7.776	19.003	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	64.79	34	chr8	67299229	.	C	T	64.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.020e+00;DP=397;ExcessHet=0.8031;FS=237.740;InbreedingCoeff=-0.1202;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=-4.370e-01;SOR=8.497	GT:AD:DP:GQ:PL	0/1:3,2:5:30:30,0,45	12	0	4	5
chr8	73067420	73067420	C	A	exonic	SBSPON	.	nonsynonymous SNV	SBSPON:NM_153225:exon5:c.G716T:p.R239L,	.	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.959	D	0.406	B	0.007	N	0.858	D	1.1	L	2.08	T	-1.052	T	0.037	T	0.534	3.810	19.35	4.19	1.539	0.618	5.970	0.113	0.00811571374245	0.0035	0.00119808	0.0023	0.0008	0.0018	0	0.0003	0.0033	0.0011	0.0011	0.0022445	347	154602	rs189764328	0.0035	0.0035	0.0035	0.0034	0.0041	0.0034	0.0034	0.0040	0.0040	0.0005	0.0023	0.0007	0	0.0005	0.0021	0.0041	0.0036	0.0012	0.0023	0.0023	0.0024	0.0022	0.0042	0.0021	0.0020	0.0033	0.0030	0.0009	0	0.0042	0.0009	0	0.0002	0	0.0035	0.0005	0.0008	0.207	0.19854	T	0.628	0.07244	T	0.959	0.55135	D	0.406	0.44683	B	0.006795	0.31798	N	0.309688	0.857506	0.35328	D	1.7	0.43825	L	2.08	0.20255	T	-3.5	0.68178	D	0.308	0.34767	-1.0524	0.13736	T	0.037	0.16160	T	10	0.009394914	0.00212	T	0.008116	0.21521	T	0.113	0.31778	.	.	0.363751660372	0.35992	0.5940992411801964	0.59339	0.489389826188	0.47706	0.344394654036	0.17094	T	0.089508	0.38387	T	-0.451554	0.01106	T	-0.423824	0.30638	T	0.0242701054191766	0.01180	T	0.906909	0.67118	D	0.2194924	0.44483	0.20048963	0.43983	0.2194924	0.44483	0.20048963	0.43982	-8.171	0.62229	D	.	.	0.120	0.24934	B	.	.	3.679325	0.52360	23.2	0.99694817158280147	0.80180	0.62166	0.31700	D	AEFI	0.401326	0.47586	N	0.118477295643237	0.47325	2.959808	0.159171282193398	0.47631	2.99037	0.0307655024252401	0.13963	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.99	4.19	0.48645	0.831000	0.27129	3.221000	0.36854	0.599000	0.40250	0.529000	0.27181	1.000000	0.68203	0.998000	0.85391	0.0:0.6409:0.1419:0.2172	5.970	0.18581	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1949.11	33	chr8	73067420	.	C	A	1949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=841;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.057;SOR=0.715	GT:AD:DP:GQ:PL	0/1:48,33:81:99:812,0,1149	19	0	2	0
chr8	75016615	75016615	G	A	exonic	CRISPLD1	.	nonsynonymous SNV	CRISPLD1:NM_001286777:exon5:c.G220A:p.E74K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.985	D	0.000	D	1.000	D	2.05	M	0.21	T	0.422	D	0.693	D	0.798	4.292	22.5	4.98	2.734	8.085	18.803	0.402	0.170953092797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.019	0.61642	D	0.997	0.70673	D	0.985	0.76457	D	0.000025	0.55875	D	0.118146	0.999999	0.58761	D	2.475	0.71894	M	0.21	0.83157	T	-1.96	0.45404	N	0.714	0.71676	0.422	0.89425	D	0.693	0.89400	D	10	0.62396795	0.68136	D	0.170953	0.84837	D	0.402	0.71558	0.311	0.28451	0.94539822836	0.94482	0.8301270187888965	0.82971	0.781083233994	0.65296	0.662772417068	0.61806	T	0.173619	0.52255	T	0.276129	0.80981	D	0.158864	0.80736	D	0.938455104827881	0.60909	D	0.925907	0.72722	D	0.3458433	0.56741	0.40086585	0.64612	0.3458433	0.56741	0.40086585	0.64612	-4.109	0.30296	T	.	.	0.549	0.66764	A	.;.;.	.;.;.	4.864898	0.79640	27.1	0.99932140240663603	0.99439	0.96581	0.69858	D	AEFBCI	0.874386	0.79724	D	0.700737701548308	0.79682	7.129213	0.64081209598111	0.77929	6.774772	0.999996059349345	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.98	4.98	0.65679	8.162000	0.89609	11.562000	0.93235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	18.803	0.91993	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	810.98	41	chr8	75016615	.	G	A	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=776;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.751;SOR=0.534	GT:AD:DP:GQ:PL	0/1:41,37:78:99:825,0,926	20	0	1	0
chr8	81444914	81444914	A	G	exonic	PMP2	.	nonsynonymous SNV	PMP2:NM_002677:exon2:c.T149C:p.I50T,	.	YES	433	1060	28	1	0	30	0.0139535	.	.	723190	not_provided|PMP2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.936	P	0.903	P	0.000	D	1.000	D	2.94	M	0.9	T	-0.403	T	0.236	T	0.179	4.738	26.4	5.68	2.164	5.049	15.933	0.332	.	0.0083	0.00439297	0.0068	0.0023	0.0076	0	0.0032	0.0099	0.0033	0.0016	0.0017076	264	154602	rs113226355	0.0084	0.0084	0.0085	0.0082	0.0195	0.0082	0.0082	0.0165	0.0154	0.0019	0.0096	0.0036	0	0.0046	0.0195	0.0096	0.0076	0.0016	0.0066	0.0066	0.0070	0.0063	0.0122	0.0063	0.0062	0.0108	0.0102	0.0018	0.0121	0.0122	0.0043	0	0.0043	0.0204	0.0093	0.0118	0.0027	0.001	0.78490	D	0.025	0.56192	D	0.936	0.52359	P	0.903	0.64103	P	0.000003	0.62929	D	0.130177	1	0.81001	D	3.275	0.90144	M	0.9	0.45248	T	-3.65	0.69950	D	0.528	0.55713	-0.4030	0.71932	T	0.236	0.60270	T	10	0.009934604	0.00223	T	.	.	.	0.332	0.65424	.	.	0.619705228755	0.61662	0.7832517119530348	0.78276	0.326856496752	0.34824	0.620928049088	0.55861	T	0.174099	0.52320	T	-0.467784	0.00878	T	-0.43304	0.29589	T	0.040061720592216	0.03702	T	0.753225	0.37546	T	0.76351094	0.81661	0.7340191	0.84281	0.79412234	0.83534	0.7340191	0.84282	-5.736	0.44013	T	0.5385803871172179	0.60852	0.464	0.62912	A	.	.	4.132459	0.61850	24.4	0.99849032492043188	0.92838	0.97802	0.77240	D	AEFI	0.645847	0.62159	D	0.718185779252264	0.80823	7.38083	0.670890889243755	0.80176	7.240721	0.999967983250319	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	4.212000	0.58311	9.089000	0.78739	0.691000	0.84096	0.853000	0.30494	0.999000	0.35428	0.989000	0.64315	1.0:0.0:0.0:0.0	15.933	0.79471	871	0.31377	Lipocalin/cytosolic fatty-acid binding domain	CHMP4C|CHMP4C|CHMP4C	Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	.	.	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	0.02381	502.98	33	chr8	81444914	.	A	G	502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.030e-01;DP=740;ExcessHet=0.0000;FS=2.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=0.083;SOR=1.230	GT:AD:DP:GQ:PL	0/1:15,20:35:99:517,0,382	20	0	1	0
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R,	.	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.821	P	.	.	1.000	N	1.78	L	0.94	T	-0.863	T	0.196	T	0.332	3.855	19.58	4.98	1.850	7.510	12.616	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	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	0.07143	3717.68	41	chr8	86064021	.	T	G	3717.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.072e+00;DP=1038;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.579;SOR=0.708	GT:AD:DP:GQ:PL	0/1:49,36:85:99:800,0,1272	18	0	3	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,46:124:99:1|0:102560764_C_G:1774,1986,5252,0,3216,3060:102560764	11	0	1	1
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,46:124:99:1|0:102560764_C_G:1774,1986,5252,0,3216,3060:102560764	9	0	2	2
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,46:124:99:1|0:102560764_C_G:1774,1986,5252,0,3216,3060:102560764	11	0	1	1
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N	.	.	442	1047	32	1	0	34	0.0159774	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.328	B	0.178	B	.	.	1.000	D	0.55	N	2.77	T	-1.034	T	0.023	T	0.148	1.622	11.38	4.59	2.382	4.878	16.328	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1993.11	34	chr8	103998243	.	G	A	1993.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.310e-01;DP=847;ExcessHet=0.1072;FS=1.146;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.311;SOR=0.791	GT:AD:DP:GQ:PL	0/1:35,41:76:99:980,0,881	19	0	2	0
chr8	109119069	109119069	G	C	exonic	TRHR	.	nonsynonymous SNV	TRHR:NM_003301:exon3:c.G811C:p.V271L,	Thyrotropin-releasing hormone resistance, generalized (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.874	P	0.666	P	0.000	D	1.000	D	2.75	M	-0.3	T	-0.135	T	0.460	T	0.892	5.288	33	6.07	2.890	7.930	19.641	0.491	0.0368772164942	.	0.000199681	8.239e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs556795929	1.643e-05	1.642e-05	1.226e-05	2.064e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0.0002	1.317e-05	1.313e-05	1.289e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.061	0.45530	T	0.874	0.48047	P	0.666	0.52990	P	0.000004	0.62929	D	0.104830	1	0.81001	D	.	.	.	-0.3	0.67874	T	-2.78	0.58896	D	0.709	0.76853	-0.1347	0.79292	T	0.460	0.79038	T	10	0.5331758	0.63299	D	0.036877	0.57267	D	0.491	0.77783	0.624	0.75916	0.862410768355	0.86108	0.7458500230237926	0.74531	0.308317518436	0.33146	0.729915380478	0.71493	T	0.707063	0.91614	D	0.0903713	0.63232	D	0.214002	0.83873	D	0.439836354703644	0.30423	T	0.883212	0.60517	D	0.548173	0.69853	0.5468475	0.73804	0.548173	0.69854	0.5468475	0.73804	-7.214	0.55582	T	0.7201793324352515	0.80122	0.967	0.88983	P	.;.	.;.	4.818514	0.78455	26.9	0.9976915905847652	0.85750	0.98887	0.88185	D	AEFBI	0.928965	0.91399	D	0.80609942663729	0.86486	8.901023	0.827576992571101	0.91642	10.99122	0.999999999370263	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.116000	0.89434	10.007000	0.83074	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.641	0.95751	640	0.64132	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	0	0	0	0	1	0	0	0	0	0	0	0.02381	1560.98	34	chr8	109119069	.	G	C	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=846;ExcessHet=0.0000;FS=6.275;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.77;ReadPosRankSum=1.01;SOR=1.226	GT:AD:DP:GQ:PL	0/1:81,64:145:99:1575,0,2053	20	0	1	0
chr8	109452281	109452281	G	A	splicing	PKHD1L1	NM_177531:exon42:c.6507+1G>A	.	.	.	.	431	1065	25	1	0	27	0.0125174	0.9999	0.92	779281	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.705	15.01	5.86	2.774	7.829	17.668	.	.	0.0079	0.00499201	0.0079	0.0035	0.0048	0	0.0014	0.0105	0.0067	0.0088	0.0078654	1216	154602	rs72687022	0.0097	0.0097	0.0097	0.0097	0.0220	0.0096	0.0095	0.0189	0.0177	0.0028	0.0066	0.0035	2.563e-05	0.0013	0.0220	0.0109	0.0103	0.0089	0.0069	0.0069	0.0080	0.0058	0.0108	0.0066	0.0064	0.0102	0.0099	0.0026	0.0209	0.0077	0.0023	0.0002	0.0008	0.0374	0.0108	0.0104	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.011008	0.50126	T	0.224385	0.84392	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.417902	0.90655	31	0.98811230320252463	0.46623	0.97911	0.78062	D	AEFI	.	.	.	1.09165194779639	0.97976	17.15447	0.918195175616818	0.96317	14.55232	0.999999999637216	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.969385	0.71690	5.86	5.86	0.93936	7.930000	0.87066	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.255000	0.23391	0.0:0.0:1.0:0.0	17.668	0.88113	685	0.59416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1553.11	38	chr8	109452281	.	G	A	1553.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.44;DP=763;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=-1.539e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/1:25,18:43:99:536,0,621	19	0	2	0
chr8	132031953	132031953	G	A	exonic	OC90	.	nonsynonymous SNV	OC90:NM_001080399:exon12:c.C959T:p.P320L,	.	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.81	L	1.89	T	-0.991	T	0.159	T	0.93	4.243	22.1	5.91	2.793	7.932	18.862	0.456	0.0338110008956	0.0003	0.00119808	0.0006	0.0002	0	0.0001	0	4.497e-05	0	0.0038	0.0005498	85	154602	rs201874447	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0.0001	0.0001	0	5.038e-05	0	0.0019	8.185e-05	0.0004	0.0044	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	0.0002	0	6.539e-05	0	0.0002	0	0	0.0001	0	0.0058	0.002	0.72154	D	0.011	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.89	0.23688	T	-7.08	0.93927	D	0.889	0.91505	-0.9905	0.32475	T	0.159	0.49195	T	10	0.06642255	0.09108	T	0.033811	0.55241	D	0.456	0.75483	.	.	0.361758802978	0.35793	0.8661686252704046	0.86581	0.0107950910863	0.01002	0.501828849316	0.39083	T	.	.	.	-0.0682506	0.41606	T	0.128348	0.78784	D	0.239477064020717	0.22395	T	0.911209	0.73561	D	0.6543038	0.75594	0.6389955	0.78914	0.6543038	0.75595	0.6389955	0.78915	-12.705	0.88111	D	.	.	0.626	0.70215	P	.;.	.;.	5.072076	0.84603	28.4	0.99887813455180696	0.96281	0.97238	0.73508	D	AEFGBI	0.863291	0.78179	D	0.765978048873095	0.83941	8.151183	0.752386034198065	0.86336	8.856238	0.999999789158464	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	8.005000	0.88076	11.703000	0.94531	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.0:0.0:1.0:0.0	18.862	0.92247	819	0.41190	Phospholipase A2 domain|Phospholipase A2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1068.98	34	chr8	132031953	.	G	A	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.559;DP=778;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.382;SOR=0.839	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1083,0,1075	20	0	1	0
chr8	132751899	132751899	A	G	exonic	TMEM71	.	nonsynonymous SNV	TMEM71:NM_001145153:exon4:c.T200C:p.L67P	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.36	M	.	.	-0.073	T	0.440	T	0.996	4.470	23.9	5.81	2.214	7.885	13.913	0.773	0.0319489724808	.	0.000199681	0.0001	0	0	0	0	4.495e-05	0	0.0006	9.06e-05	14	154602	rs575105256	3.557e-05	3.557e-05	2.178e-05	4.951e-05	0.0004	2.762e-05	2.501e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0	1.349e-05	6.624e-05	0.0004	3.94e-05	3.937e-05	2.57e-05	5.372e-05	0.0004	1.715e-05	1.129e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.34	0.67151	M	.	.	.	-6.68	0.93697	D	0.979	0.98929	-0.0730	0.80710	T	0.440	0.77846	T	9	0.58072865	0.65834	D	0.031949	0.53903	D	0.773	0.92378	0.564	0.68499	0.219573609325	0.21563	0.4444639105667158	0.44364	0.348190873874	0.36693	0.610494315624	0.54386	T	.	.	.	0.222057	0.75970	D	0.403159	0.92213	D	0.779234409332275	0.45003	D	0.908709	0.67676	D	.	.	.	.	.	.	.	.	-3.837	0.24311	T	.	.	0.890	0.83288	P	.;.;.;.;.	.;.;.;.;.	4.877520	0.79967	27.2	0.99904056395706442	0.97502	0.98003	0.78791	D	AEFBI	0.953248	0.96938	D	0.842820141350749	0.88695	9.676231	0.823431868291715	0.91371	10.854	0.999993582525963	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	7.735000	0.83874	10.993000	0.84699	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.913	0.63385	876	0.30350	.;.;.;.;.	.	.	.	.	.	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	0.02381	3532.98	33	chr8	132751899	.	A	G	3532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=1000;ExcessHet=0.0000;FS=3.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.092;SOR=0.932	GT:AD:DP:GQ:PL	0/1:152,139:291:99:3547,0,3913	20	0	1	0
chr8	138152431	138152431	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.A2044G:p.I682V	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.018	B	0.01	B	0.752	N	1.000	N	0.475	N	2.67	T	-0.960	T	0.014	T	0.053	-0.104	3.491	-11.3	-2.736	-1.057	13.294	0.056	.	.	0.00379393	0.0025	0	0	0.0003	0	4.503e-05	0	0.0182	0.0021345	330	154602	rs369394840	0.0012	0.0012	0.0007	0.0018	0.0191	0.0012	0.0011	0.0183	0.0180	0	2.236e-05	0.0005	0	0	0.0012	1.169e-05	0.0012	0.0191	0.0006	0.0006	0.0002	0.0010	0.0166	0.0005	0.0005	0.0137	0.0126	4.81e-05	0	6.532e-05	0.0014	0.0002	0	0.0034	1.47e-05	0	0.0166	0.549	0.06606	T	0.968	0.02496	T	0.0	0.02946	B	0.001	0.04355	B	0.751816	0.09694	N	0.894418	1	0.08975	N	0.895	0.22405	L	2.67	0.12473	T	0.12	0.05604	N	0.03	0.00717	-0.9596	0.39255	T	0.014	0.05561	T	10	0.0016076863	0.00019	T	.	.	.	0.056	0.15993	0.119	0.02647	0.128874641272	0.12493	0.2559907786949868	0.25513	0.0557266103927	0.06161	0.294885903597	0.09641	T	0.026145	0.19408	T	-0.738647	0.00021	T	-0.819512	0.01462	T	0.0155614212267995	0.00354	T	0.467153	0.13745	T	0.036653947	0.04550	0.043012496	0.05255	0.036653947	0.04550	0.043012496	0.05254	-4.568	0.31767	T	.	.	0.065	0.01960	B	.	.	-1.262871	0.00471	0.010	0.43428493565143444	0.03269	0.02999	0.07862	N	AEFDBI	0.083678	0.16954	N	-1.93669502798894	0.00288	0.01236904	-2.00805320689024	0.00295	0.01300601	0.992504799752568	0.32863	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	-11.3	0.00084	-1.030000	0.03692	-3.140000	0.03027	-1.405000	0.01138	0.000000	0.06391	0.000000	0.08366	0.631000	0.32184	0.0:0.3284:0.4903:0.1812	13.294	0.59724	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2343.98	34	chr8	138152431	.	T	C	2343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.712e+00;DP=1927;ExcessHet=0.0000;FS=1.882;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=2.68;SOR=0.695	GT:AD:DP:GQ:PL	0/1:80,94:174:99:2358,0,2247	20	0	1	0
chr8	143021703	143021703	G	A	exonic	LY6E	.	nonsynonymous SNV	LY6E:NM_001127213:exon4:c.G310A:p.D104N	.	.	423	1094	5	0	0	5	0.00227998	.	.	722898	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.691	N	1.000	N	0.69	N	-1.46	T	-0.898	T	0.243	T	0.051	-2.324	0.004	1.27	0.329	0.874	4.428	0.109	0.0750111966645	0.0021	0.000998403	0.0016	0.0046	0.0008	0.0006	0	0.0013	0.0022	0.0025	0.0014101	218	154602	rs111560737	0.0008	0.0008	0.0007	0.0009	0.0053	0.0007	0.0007	0.0047	0.0045	0.0053	0.0007	0.0071	0.0006	0	0.0043	0.0003	0.0022	0.0025	0.0018	0.0018	0.0015	0.0020	0.0042	0.0016	0.0015	0.0037	0.0035	0.0042	0	0.0007	0.0078	0.0004	0	0.0102	0.0006	0.0019	0.0021	1.0	0.00964	T	0.638	0.07015	T	0.001	0.07471	B	0.001	0.04355	B	0.690992	0.06146	N	1.192290	1	0.08975	N	0.69	0.16971	N	-1.46	0.80983	T	0.35	0.03761	N	0.094	0.28264	-0.8982	0.48175	T	0.243	0.61119	T	10	0.0045699775	0.00095	T	0.075011	0.72183	D	0.109	0.30843	.	.	0.619293459087	0.61621	0.22872486032246309	0.22787	0.401235928437	0.41108	0.41535025835	0.27195	T	0.101689	0.40869	T	-0.5459	0.00309	T	-0.556521	0.16706	T	0.000302103845567294	0.00002	T	0.658834	0.26791	T	0.019850181	0.00525	0.023477858	0.00361	0.019850181	0.00525	0.023477858	0.00361	-4.492	0.30784	T	.	.	0.109	0.21087	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.278330	0.06553	3.040	0.71013850869341977	0.09486	0.10811	0.16209	N	AEFBCI	0.117947	0.23083	N	-1.29271296942825	0.03762	0.1686411	-1.30782588454055	0.04328	0.2039091	0.999668402452916	0.41534	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.18	1.27	0.20595	0.136000	0.15794	3.781000	0.39791	-0.123000	0.13640	0.000000	0.06391	0.981000	0.30433	0.118000	0.19084	0.1322:0.2319:0.6359:0.0	4.428	0.10939	984	0.02857	Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like;Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1550.98	34	chr8	143021703	.	G	A	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.925;DP=806;ExcessHet=0.0000;FS=3.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=-5.580e-01;SOR=1.054	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1565,0,1102	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/2:0,30,3:33:27:1362,118,27,1245,0,1349	0	17	0	0
chr8	143693902	143693902	G	T	exonic	ZNF707	.	nonsynonymous SNV	ZNF707:NM_001288808:exon4:c.G380T:p.R127L	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	0.49	N	3.5	T	-0.985	T	0.021	T	0.382	-1.362	0.027	-3.87	-1.296	-0.370	1.073	0.057	0.00265009182441	.	0.000199681	0.0008	0	0	0	0	0	0	0.0052	0.0005627	87	154602	.	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	6.004e-05	0	0	2.53e-05	0	0	3.614e-06	0.0004	0.0057	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	0	0	0.0064	1.0	0.00964	T	0.679	0.06128	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.295	0.00719	N	3.5	0.19588	T	3.12	0.00186	N	0.085	0.06190	-0.9846	0.33927	T	0.021	0.08963	T	8	0.0042155385	0.00084	T	0.00265	0.05406	T	0.057	0.16321	0.457	0.52265	0.0551355673512	0.04727	0.13791814954313353	0.13715	0.281793151328	0.30648	0.337628334761	0.16083	T	0.004667	0.04082	T	-0.548843	0.00296	T	-0.559233	0.16448	T	0.0165222542936939	0.00415	T	.	.	.	0.054127328	0.10343	0.05798384	0.10636	0.054127328	0.10343	0.05798384	0.10635	-2.589	0.06420	T	.	.	0.116	0.32275	B	.;.;.;.;.	.;.;.;.;.	-0.250374	0.02843	0.398	0.75353343464222455	0.11042	0.00233	0.01302	N	AEFDBI	0.044081	0.07050	N	-1.6948730732895	0.00860	0.03721321	-1.79964727606577	0.00760	0.03389893	0.978711146501501	0.29951	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	1.93	-3.87	0.03939	-0.183000	0.09707	.	.	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1894:0.1519:0.4019:0.2568	1.073	0.01525	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	0.02381	1177.98	93	chr8	143693902	.	G	T	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.081;DP=2027;ExcessHet=0.0000;FS=1.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.66;SOR=0.892	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1192,0,1271	20	0	1	0
chr8	143868233	143868233	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G5021A:p.R1674Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.787	P	0.09	B	.	.	1.000	N	-0.14	N	-0.4	T	-1.077	T	0.084	T	0.215	2.474	14.23	2.91	1.243	1.608	3.778	0.095	0.037033706059	.	0.000199681	3.348e-05	0	0	0.0003	0	0	0	6.064e-05	3.23e-05	5	154602	rs546299644	1.917e-05	1.915e-05	2.043e-05	1.789e-05	0.0002	1.329e-05	1.144e-05	1.093e-05	8.81e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	3.478e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.575	0.39704	L	.	.	.	.	.	.	0.164	0.17278	-1.0767	0.08003	T	0.084	0.32957	T	9	0.053402066	0.05526	T	0.037034	0.57367	D	.	.	0.473	0.54859	0.215109475489	0.21095	0.13621724776346694	0.13545	.	.	0.33433675766	0.15588	T	0.116099	0.43518	T	-0.405202	0.02140	T	-0.555393	0.16812	T	0.106351479887962	0.13042	T	0.926807	0.73035	D	0.06360007	0.13410	0.06278368	0.12336	0.06360007	0.13409	0.06278368	0.12336	-6.731	0.52043	T	.	.	0.095	0.14979	B	.;.	.;.	2.541173	0.32871	19.17	0.99758306885324199	0.84851	0.07084	0.13110	N	AEFGBI	0.085059	0.17242	N	-0.621123376112361	0.18311	0.9496136	-0.643263475368858	0.18387	0.9820101	0.999966131495209	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.95	2.91	0.32903	1.299000	0.33028	.	.	-0.236000	0.07595	0.005000	0.17040	0.000000	0.08366	0.002000	0.04165	0.0:0.5759:0.2339:0.1902	3.778	0.08188	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3260.98	82	chr8	143868233	.	C	T	3260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.14;DP=1732;ExcessHet=0.0000;FS=3.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.39;MQRankSum=0.326;QD=13.20;ReadPosRankSum=-3.800e-01;SOR=0.500	GT:AD:DP:GQ:PL	0/1:131,116:247:99:3275,0,3341	20	0	1	0
chr8	144041354	144041354	C	G	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_198572:exon4:c.C1429G:p.P477A,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.965	D	0.599	P	0.000	D	1.000	D	2.39	M	-0.07	T	-0.501	T	0.283	T	0.411	2.296	13.64	3.6	1.010	5.666	8.540	0.263	0.0778834012165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.135e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	8.993e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	0.965	0.56013	D	0.599	0.50715	P	0.000221	0.47681	D	0.083754	1	0.81001	D	1.055	0.26876	L	-0.07	0.63738	T	-6.9	0.93293	D	0.565	0.58883	-0.5011	0.68610	T	0.283	0.65537	T	10	0.38921952	0.54768	T	0.077883	0.72875	D	0.263	0.57612	0.423	0.46693	0.326616659874	0.32268	0.7299409666048834	0.72939	0.461430799888	0.45681	0.656992316246	0.60980	T	0.073985	0.34828	T	-0.128326	0.31766	T	-0.252979	0.49522	T	0.951071858406067	0.63479	D	0.884911	0.60954	D	0.07262676	0.16171	0.1438515	0.34173	0.07262676	0.16171	0.1438515	0.34172	-2.343	0.04795	T	.	.	0.761	0.75539	P	.	.	4.292705	0.65474	24.8	0.99142271807225535	0.53573	0.90672	0.52044	D	AEFDGBCI	0.486158	0.52545	N	0.334860169693101	0.57946	3.964177	0.25061807138038	0.52683	3.441663	0.999997246900012	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.48	3.6	0.40374	4.097000	0.57471	.	.	0.596000	0.33519	0.739000	0.29016	1.000000	0.68203	0.935000	0.47363	0.0:0.8896:0.0:0.1104	8.540	0.32549	970	0.06235	Speriolin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1042.98	37	chr8	144041354	.	C	G	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e-01;DP=815;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=1.63;SOR=0.825	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1057,0,1435	20	0	1	0
chr8	144099773	144099773	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon4:c.G589A:p.V197I,	.	.	428	1083	10	1	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.002	B	0.001	B	0.139	N	1.000	N	-0.29	N	1.98	T	-1.041	T	0.030	T	0.057	-0.986	0.282	-8.48	-1.902	-2.070	9.288	0.006	0.00327893460144	0.0002	0.000998403	0.0015	0	0.0002	0	0	0.0002	0.0023	0.0096	0.0012031	186	154602	rs113734637	0.0006	0.0006	0.0004	0.0009	0.0089	0.0006	0.0006	0.0084	0.0082	5.974e-05	4.473e-05	3.826e-05	0	0	0.0024	0.0001	0.0004	0.0089	0.0004	0.0004	0.0004	0.0005	0.0106	0.0003	0.0003	0.0082	0.0074	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0106	0.265	0.16305	T	0.591	0.08189	T	0.002	0.09854	B	0.001	0.04355	B	0.139022	0.02870	N	1.731550	1	0.08975	N	-0.185	0.04235	N	1.98	0.21865	T	-0.48	0.15379	N	0.147	0.14905	-1.0406	0.17132	T	0.030	0.12935	T	10	0.008582443	0.00194	T	0.003279	0.07268	T	0.006	0.00375	.	.	0.0482279557977	0.04254	0.127868874853879	0.12711	0.125980353182	0.14199	0.303288936615	0.10892	T	0.042826	0.26306	T	-0.73257	0.00023	T	-0.818524	0.01483	T	0.0274239196232161	0.01605	T	0.381062	0.09207	T	0.0242122	0.01230	0.026055746	0.00677	0.0242122	0.01230	0.026055746	0.00676	-5.293	0.39874	T	.	.	0.068	0.02702	B	.	.	-2.354174	0.00045	0.001	0.62339489665253112	0.06937	0.03800	0.09130	N	AEFBCI	0.042797	0.06686	N	-2.01380295624049	0.00198	0.008466632	-2.08082253520812	0.00205	0.009032203	0.999999994859592	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.24	-8.48	0.00815	-2.672000	0.00915	-11.175000	0.00628	-2.537000	0.00251	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.546:0.2544:0.1996	9.288	0.36929	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1024.98	36	chr8	144099773	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=845;ExcessHet=0.0000;FS=4.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.464;SOR=1.262	GT:AD:DP:GQ:PL	0/1:35,38:73:99:1039,0,787	20	0	1	0
chr8	144846102	144846102	C	T	exonic	ZNF7	.	nonsynonymous SNV	ZNF7:NM_001282796:exon5:c.C371T:p.S124L	.	.	418	1097	6	1	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.223	B	0.003	B	.	.	1.000	N	.	.	5.64	T	-0.943	T	0.001	T	0.076	0.674	7.609	-2.35	-1.224	-0.385	0.199	0.078	0.00344693913937	.	0.00179712	0.0032	0	0	0	0	0	0	0.0062	0.000401	62	154602	rs377425729	0.0005	0.0005	0.0003	0.0007	0.0077	0.0005	0.0004	0.0072	0.0070	0.0004	0	0	0	0	0	1.483e-05	0.0005	0.0077	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	0.0004	0	0	0	0	0	0	0	0	0.0091	0.431	0.17069	T	0.155	0.31936	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-1.17	0.29933	N	0.21	0.27435	-0.9430	0.42137	T	0.001	0.00438	T	8	0.0038035214	0.00071	T	0.003447	0.07786	T	0.078	0.22779	0.252	0.19067	0.230578612272	0.22657	.	.	.	.	.	.	.	0.011662	0.10375	T	-0.708389	0.00033	T	-0.785482	0.02292	T	0.00609401466278623	0.00067	T	0.558744	0.19484	T	.	.	.	.	.	.	.	.	-3.337	0.14219	T	.	.	0.133	0.29860	B	.;.	.;.	0.032812	0.04515	1.215	0.86244381660808489	0.16407	0.00527	0.02446	N	AEFDBHI	0.028466	0.02513	N	-1.42668104618604	0.02406	0.1062217	-1.5882582289623	0.01727	0.07850494	0.999999613326658	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	1.18	-2.35	0.06302	-0.108000	0.10827	-3.779000	0.02542	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2088:0.2408:0.2081:0.3423	0.199	0.00133	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3431.11	35	chr8	144846102	.	C	T	3431.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.46;DP=909;ExcessHet=0.1072;FS=6.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=1.25;SOR=0.644	GT:AD:DP:GQ:PL	0/1:56,69:125:99:1779,0,1211	19	0	2	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,9,0:25:99:.:.:255,0,445,303,472,775	3	5	9	0
chr9	5770273	5770273	A	G	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon22:c.A3500G:p.N1167S	.	.	422	1093	5	2	0	9	0.00410023	.	.	3185200	RIC1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.001	B	0.002	B	0.000	D	1.000	D	1.175	L	.	.	-1.067	T	0.110	T	0.021	1.864	12.19	1.8	0.059	2.889	6.002	0.164	0.00214837415935	0.0007	0.00159744	0.0013	0.0002	0.0002	0	0.0003	0.0010	0.0011	0.0059	0.0012096	187	154602	rs147192288	0.0010	0.0010	0.0009	0.0011	0.0043	0.0010	0.0010	0.0039	0.0038	0.0001	0.0001	0.0039	0	0.0005	0.0026	0.0008	0.0014	0.0043	0.0008	0.0008	0.0008	0.0009	0.0075	0.0007	0.0007	0.0055	0.0049	0.0001	0	6.534e-05	0.0049	0	0.0003	0.0034	0.0009	0.0014	0.0075	0.283	0.18626	T	0.261	0.31125	T	0.001	0.07471	B	0.002	0.06944	B	0.000006	0.62929	D	0.138815	0.970916	0.38832	D	0.895	0.22405	L	.	.	.	-0.72	0.25551	N	0.167	0.17691	-1.0672	0.10039	T	0.110	0.39580	T	9	0.0067324936	0.00153	T	0.002148	0.04016	T	0.164	0.42212	.	.	0.043077524339	0.03247	0.15597472993142328	0.15518	.	.	0.285122215748	0.08217	T	0.030826	0.21757	T	-0.599913	0.00146	T	-0.634791	0.10053	T	0.010907179945957	0.00156	T	0.833717	0.50357	T	0.035624687	0.04230	0.048788868	0.07322	0.035624687	0.04230	0.048788868	0.07321	-2.432	0.05333	T	.	.	0.059	0.00754	B	.;.;.	.;.;.	1.601350	0.20470	14.76	0.98545141535652259	0.42770	0.91777	0.54241	D	AEGBI	0.229748	0.35323	N	-0.383637982278124	0.26051	1.418864	-0.236054983333018	0.30255	1.701894	0.997980917368862	0.36275	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	1.8	0.24069	2.921000	0.48549	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.5976:0.2566:0.1458:0.0	6.002	0.18754	457	0.78953	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	799.98	37	chr9	5770273	.	A	G	799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.395e+00;DP=817;ExcessHet=0.0000;FS=2.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.199;SOR=0.412	GT:AD:DP:GQ:PL	0/1:31,35:66:99:814,0,831	20	0	1	0
chr9	12694094	12694094	T	C	exonic	TYRP1	.	nonsynonymous SNV	TYRP1:NM_000550:exon2:c.T98C:p.V33A,	Albinism, oculocutaneous, type III, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	751398	not_provided|Oculocutaneous_albinism_type_3	MedGen:C3661900|MONDO:MONDO:0008747,MedGen:C0342683,OMIM:203290,Orphanet:79433	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.216	N	1.000	N	0.565	N	2.46	T	0.279	D	0.844	D	0.241	-0.421	2.038	0.567	-0.068	0.654	9.626	0.153	.	0.0006	0.000199681	0.0013	9.612e-05	0.0003	0	0.0109	0.0012	0.0011	6.057e-05	0.0011125	172	154602	rs146838872	0.0010	0.0010	0.0010	0.0010	0.0019	0.0009	0.0009	0.0011	0.0008	0.0002	0.0006	0	0	0.0095	0.0019	0.0007	0.0008	2.319e-05	0.0012	0.0012	0.0009	0.0016	0.0008	0.0011	0.0010	0.0006	0.0006	4.815e-05	0	0.0007	0	0	0.0112	0	0.0008	0.0005	0.0002	0.372	0.11478	T	0.242	0.29540	T	0.0	0.02946	B	0.001	0.04355	B	0.216066	0.16249	N	0.646541	1	0.08975	N	1.36	0.34107	L	2.46	0.99036	T	-1.14	0.29323	N	0.22	0.24634	0.279	0.87213	D	0.844	0.94805	D	10	0.0060635507	0.00136	T	.	.	.	0.153	0.40148	.	.	0.83414938143	0.83257	0.516038228722175	0.51526	0.00545414577032	0.00480	0.229937195778	0.01963	T	0.074781	0.47321	T	-0.267215	0.12069	T	-0.207053	0.53977	T	0.0083199415248709	0.00100	T	0.811819	0.46320	T	0.19446383	0.41196	0.07275501	0.15731	0.15269089	0.34648	0.087056406	0.20210	-4.043	0.24445	T	0.10119334320975597	0.07551	0.068	0.02670	B	.;.	.;.	-0.010238	0.04214	1.030	0.47420140829649177	0.03876	0.08554	0.14467	N	AEFBI	0.113593	0.22407	N	-1.22237266085996	0.04677	0.2115842	-1.20531244815141	0.05824	0.2785964	0.999633577615117	0.41205	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.63	0.567	0.16510	0.441000	0.21325	-4.305000	0.02227	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.0:0.3322:0.0:0.6678	9.626	0.38912	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1567.98	33	chr9	12694094	.	T	C	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=803;ExcessHet=0.0000;FS=1.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-1.054e+00;SOR=0.498	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1582,0,1334	20	0	1	0
chr9	13168390	13168390	T	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.A3230G:p.H1077R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.001	D	1.000	D	1.745	L	1.15	T	-0.932	T	0.172	T	0.795	3.626	18.45	4.19	0.934	7.655	12.511	0.354	0.027143734527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.54683	D	0.122	0.38305	T	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.99952	0.47407	D	1.92	0.51302	L	1.15	0.38236	T	-3.94	0.73378	D	0.727	0.77978	-0.9318	0.43874	T	0.172	0.51484	T	10	0.73585963	0.74615	D	0.027144	0.49992	D	0.354	0.67510	0.704	0.84054	0.463068873536	0.45932	0.7174230411935983	0.71685	.	.	0.808946490288	0.83330	D	0.090101	0.38513	T	0.119062	0.66279	D	-0.0667528	0.65858	T	0.984072506427765	0.75510	D	0.89491	0.65919	D	0.3044438	0.53300	0.3014344	0.56175	0.3044438	0.53300	0.3014344	0.56174	-11.379	0.82043	D	.	.	0.853	0.86433	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.947322	0.57808	23.9	0.99577508414446592	0.72802	0.97696	0.76478	D	AEFBI	0.939189	0.93944	D	0.563804521385392	0.70926	5.573924	0.539877344724308	0.70694	5.543289	0.997216321833269	0.35382	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.19	0.48645	7.605000	0.82070	7.912000	0.74078	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1397:0.8603	12.511	0.55349	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	144.56	50	chr9	13168390	.	T	C	144.56	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.530e+00;DP=1567;ExcessHet=1.1607;FS=150.054;InbreedingCoeff=-0.1367;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.337;SOR=10.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,16:98:23:.:.:23,0,2734	16	0	5	0
chr9	18777735	18777735	A	G	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.A3506G:p.K1169R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.911	P	0.232	B	0.000	D	1.000	D	0.625	N	-0.01	T	-0.929	T	0.138	T	0.34	2.736	15.11	6.03	2.313	4.257	16.572	0.148	0.0103041815025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.16466	T	0.222	0.25748	T	0.911	0.50336	P	0.232	0.38314	B	0.000082	0.51296	D	0.079697	0.995975	0.42951	D	0.14	0.08730	N	-0.01	0.62762	T	-0.9	0.24244	N	0.422	0.46180	-0.9288	0.44313	T	0.138	0.45583	T	10	0.27076983	0.44610	T	0.010304	0.26676	T	0.148	0.39182	0.454	0.51775	0.583519820621	0.58024	0.5222049530389823	0.52143	0.0685784815088	0.07678	0.789503216743	0.80367	T	0.013775	0.11851	T	-0.061585	0.42659	T	-0.326239	0.41887	T	0.615738868713379	0.37032	D	0.856914	0.54589	D	0.062433157	0.13039	0.1319382	0.31671	0.062433157	0.13038	0.1319382	0.31670	-3.412	0.15218	T	.	.	0.198	0.41992	B	.	.	3.362849	0.46435	22.3	0.9982024971947201	0.90326	0.93397	0.58108	D	AEFBI	0.670490	0.63756	D	0.12506443787088	0.47633	2.986387	0.229882009816073	0.51512	3.333178	0.999983003975917	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.537000	0.60354	11.239000	0.90365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	16.572	0.84472	884	0.28482	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1393.98	39	chr9	18777735	.	A	G	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=918;ExcessHet=0.0000;FS=2.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.208;SOR=0.947	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1408,0,1514	20	0	1	0
chr9	19058600	19058600	C	A	exonic	HAUS6	.	nonsynonymous SNV	HAUS6:NM_001270890:exon16:c.G2062T:p.D688Y	.	.	442	1075	5	0	0	5	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.958	D	0.568	P	0.189	N	1.000	N	1.445	L	1.61	T	-1.028	T	0.056	T	0.134	0.718	7.824	-1.82	-0.229	-0.216	1.506	0.027	.	0.0052	0.00279553	0.0071	0.0021	0.0055	0	0.0074	0.0106	0.0102	0.0010	0.0006727	104	154602	rs113547478	0.0075	0.0075	0.0076	0.0073	0.0129	0.0073	0.0073	0.0105	0.0097	0.0014	0.0055	0.0214	0	0.0066	0.0129	0.0082	0.0069	0.0007	0.0058	0.0058	0.0062	0.0054	0.0077	0.0055	0.0054	0.0072	0.0069	0.0017	0	0.0077	0.0219	0	0.0056	0.0170	0.0077	0.0109	0.0012	0.018	0.51248	D	0.03	0.54159	D	0.958	0.54977	D	0.568	0.49807	P	0.189189	0.03238	N	1.538370	1	0.08975	N	1.735	0.44892	L	1.61	0.28391	T	-3.98	0.77717	D	0.202	0.22357	-1.0277	0.21200	T	0.056	0.23527	T	10	0.0056252778	0.00125	T	.	.	.	0.027	0.05988	.	.	0.239305524855	0.23518	0.25479023368151005	0.25393	0.140115118664	0.15791	0.231105089188	0.02051	T	0.00779	0.39775	T	-0.591899	0.00163	T	-0.616884	0.11431	T	0.0498516026703975	0.05475	T	0.729327	0.34443	T	0.061745796	0.12821	0.11337768	0.27361	0.061745796	0.12821	0.11337768	0.27361	-6.278	0.48548	T	.	.	0.100	0.20586	B	.;.	.;.	1.745122	0.22204	15.52	0.97465567261611485	0.34105	0.05350	0.11207	N	AEFGBI	0.053981	0.09774	N	-0.663108906166838	0.17079	0.8758265	-0.829971606891244	0.13770	0.7161314	0.0146745814687158	0.12625	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	-1.82	0.07433	-0.150000	0.10174	-0.501000	0.08802	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.142:0.3006:0.1387:0.4187	1.506	0.02336	616	0.66398	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1350.11	43	chr9	19058600	.	C	A	1350.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.439e+00;DP=825;ExcessHet=0.1072;FS=9.793;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.80;MQRankSum=1.69;QD=20.77;ReadPosRankSum=0.851;SOR=0.136	GT:AD:DP:GQ:PL	0/1:11,14:25:99:492,0,369	19	0	2	0
chr9	19379516	19379516	C	G	exonic	RPS6	.	nonsynonymous SNV	RPS6:NM_001010:exon2:c.G109C:p.A37P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.033	B	0.000	D	1.000	D	-0.47	N	0.92	T	-1.066	T	0.044	T	0.401	1.800	11.98	3.77	2.626	0.665	11.376	0.094	0.0143303180136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.13349	T	0.313	0.19539	T	0.003	0.14184	B	0.02	0.22329	B	0.000194	0.48115	D	0.178432	0.999999	0.58761	D	0.845	0.21182	L	0.92	0.46028	T	-0.41	0.40274	N	0.394	0.43514	-1.0661	0.10293	T	0.044	0.18742	T	9	0.1379394	0.26236	T	0.01433	0.34374	T	0.094	0.27141	0.338	0.32816	0.370644970701	0.36680	0.8117249231459223	0.81128	.	.	0.681167900562	0.64437	T	0.178871	0.52967	T	-0.138735	0.30092	T	-0.43706	0.29137	T	0.247089862823486	0.22743	T	0.934007	0.75281	D	0.35452777	0.57417	0.16103078	0.37477	0.35452777	0.57418	0.16103078	0.37477	-4.382	0.29312	T	.	.	0.179	0.39029	B	.;.;.;.	.;.;.;.	3.642710	0.51655	23.1	0.97921068245209419	0.36886	0.84388	0.43470	D	AEFDGBHCI	0.753829	0.69389	D	-0.387611183286798	0.25910	1.410048	-0.172674411591817	0.32546	1.852695	0.999998039900766	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.74	3.77	0.42499	0.679000	0.24971	2.732000	0.34396	0.599000	0.40250	0.847000	0.30396	0.996000	0.32793	0.870000	0.41412	0.193:0.6919:0.1151:0.0	11.376	0.48969	674	0.60593	.;.;.;.	.	.	.	.	.	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	0.02381	785.98	36	chr9	19379516	.	C	G	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=808;ExcessHet=0.0000;FS=2.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=1.01;SOR=0.956	GT:AD:DP:GQ:PL	0/1:33,28:61:99:800,0,939	20	0	1	0
chr9	21239841	21239841	A	C	exonic	IFNA14	.	nonsynonymous SNV	IFNA14:NM_002172:exon1:c.T95G:p.L32R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.786	P	0.645	P	0.251	N	1.000	N	1.82	L	3.76	T	-1.061	T	0.024	T	0.55	1.930	12.41	1.66	0.458	0.728	6.427	0.110	0.00512242766757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.786	0.44460	P	0.645	0.52270	P	0.251488	0.15500	N	0.581766	1	0.08975	N	2.015	0.55033	M	3.76	0.03892	T	-3.86	0.72471	D	0.289	0.32701	-1.0612	0.11459	T	0.024	0.10329	T	10	0.6354802	0.68757	D	0.005122	0.13001	T	0.110	0.31079	0.765	0.89293	0.130388298395	0.12655	0.2601951856849105	0.25933	.	.	0.226852476597	0.01743	T	0.135159	0.46681	T	-0.138363	0.30151	T	-0.436525	0.29198	T	0.776596426963806	0.44839	D	0.719228	0.33234	T	0.5539178	0.70174	0.40378892	0.64824	0.5539178	0.70175	0.40378892	0.64824	-3.805	0.20879	T	.	.	0.071	0.03849	B	.	.	1.511176	0.19414	14.25	0.99170766436902058	0.54383	0.04403	0.09989	N	AEFBI	0.029027	0.02665	N	-0.433995823177922	0.24286	1.310248	-0.657499061348613	0.18027	0.9612415	0.994763033976769	0.33790	0.500041	0.20204	0	0.491513	0.07743	0	0.624306	0.44879	0	0.530356	0.10902	0	.	.	2.86	1.66	0.23081	0.378000	0.20298	.	.	0.567000	0.28720	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.7814:0.0:0.0:0.2185	6.427	0.20977	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3696.98	33	chr9	21239841	.	A	C	3696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.769e+00;DP=953;ExcessHet=0.0000;FS=2.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=-2.763e+00;SOR=0.844	GT:AD:DP:GQ:PL	0/1:111,150:261:99:3711,0,2821	20	0	1	0
chr9	32635263	32635263	G	A	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.C317T:p.A106V,	.	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.908	P	0.000	D	1.000	D	2.545	M	1.85	T	-0.947	T	0.129	T	0.303	3.522	17.98	1.16	0.602	6.114	7.773	0.142	0.00236528115817	0.0003	0.000199681	0.0001	0.0013	0.0003	0	0	0	0	0	0.0001164	18	154602	rs144981477	3.01e-05	3.01e-05	3.675e-05	2.338e-05	0.0009	2.281e-05	2.032e-05	0.0007	0.0006	0.0009	0.0002	0	0	0	0	0	8.279e-05	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0.0003	0	0	0	0	0	0.0005	0	0.002	0.72154	D	0.007	0.69154	D	0.992	0.64738	D	0.908	0.64494	P	0.000000	0.84330	D	0.000000	0.999626	0.47904	D	2.765	0.80766	M	1.85	0.24472	T	-3.62	0.69593	D	0.384	0.42541	-0.9470	0.41481	T	0.129	0.43686	T	10	0.07632297	0.11909	T	0.002365	0.04590	T	0.142	0.37995	.	.	0.529961695366	0.52645	0.5327570081964922	0.53200	0.570767969123	0.53222	0.400256931782	0.25104	T	0.325616	0.69631	T	-0.377327	0.03238	T	-0.373973	0.36426	T	0.309864899398116	0.25408	T	0.983302	0.94339	D	0.40987065	0.61410	0.24501489	0.49981	0.40987065	0.61410	0.24501489	0.49980	-3.194	0.12407	T	.	.	0.342	0.56031	A	.	.	3.316146	0.45584	22.2	0.99856159314563309	0.93458	0.76515	0.37532	D	AEFDBI	0.293794	0.40433	N	0.250566387190048	0.53666	3.534592	0.033184400028537	0.41267	2.476339	0.996718472167954	0.34950	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.16	1.16	0.19936	6.515000	0.73661	10.992000	0.84691	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.519000	0.29452	0.0:0.0:1.0:0.0	7.773	0.28186	834	0.38640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2118.98	38	chr9	32635263	.	G	A	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.170e-01;DP=938;ExcessHet=0.0000;FS=1.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-6.090e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/1:92,76:168:99:2133,0,2523	20	0	1	0
chr9	32989807	32989807	G	A	exonic	APTX	.	nonsynonymous SNV	APTX:NM_001195248:exon2:c.C85T:p.R29C	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1982763	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.86	M	-3.0	D	1.102	D	0.961	D	0.875	4.622	25.3	5.58	2.636	7.394	17.067	0.877	0.402513602915	.	.	1.647e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs754156994	8.209e-06	8.209e-06	4.084e-06	1.238e-05	4.637e-05	4.38e-06	3.46e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	6.295e-06	1.656e-05	4.637e-05	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.31	0.90591	M	-3.0	0.97849	D	-4.29	0.95634	D	0.966	0.98657	1.102	0.99747	D	0.961	0.98731	D	10	0.90581304	0.89945	D	0.402514	0.93427	D	0.877	0.96354	.	.	0.990135326797	0.99002	0.8174518694771439	0.81702	0.416609245042	0.42299	0.600270211697	0.52942	T	0.740933	0.92824	D	0.467517	0.93238	D	0.530633	0.95241	D	0.997613906860352	0.91988	D	0.989401	0.97720	D	0.68565196	0.77275	0.59199375	0.76322	0.68565196	0.77276	0.59199375	0.76323	-11.812	0.85712	D	.	.	0.886	0.81821	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.967884	0.94212	34	0.99941177190431751	0.99797	0.97554	0.75511	D	ALL	0.943765	0.95002	D	0.925860435472583	0.92967	11.73881	0.881456122233337	0.94712	12.981	0.999999979852037	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.539000	0.80984	9.757000	0.81495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.067	0.86438	534	0.73357	.;.;.;.;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1895.98	34	chr9	32989807	.	G	A	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e+00;DP=815;ExcessHet=0.0000;FS=11.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-9.520e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:55,75:130:99:1910,0,1354	20	0	1	0
chr9	34256749	34256749	C	T	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.G2858A:p.G953D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.006	B	0.002	B	0.128	N	1.000	N	0.95	L	1.4	T	-1.054	T	0.039	T	0.166	1.367	10.50	1.13	0.276	1.278	6.427	0.027	0.00548203413368	0.0002	0.000998403	5.767e-05	0.0007	0	0	0	0	0	0	7.76e-05	12	154602	rs140422338	3.352e-05	3.352e-05	3.267e-05	3.438e-05	0.0010	2.566e-05	2.312e-05	0.0008	0.0007	0.0010	2.236e-05	0	0	0	0.0002	0	0.0002	1.159e-05	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.711e-05	0.0004	0.0003	0.0006	0	0	0	0	0	0	0	0	0	0.245	0.20456	T	0.379	0.16914	T	0.006	0.13644	B	0.002	0.06944	B	0.128072	0.18744	N	0.454258	1	0.08975	N	1.245	0.31408	L	1.4	0.33630	T	-1.8	0.42575	N	0.124	0.18239	-1.0540	0.13305	T	0.039	0.16677	T	10	0.009799868	0.00220	T	0.005482	0.14106	T	0.027	0.05988	.	.	0.517104213562	0.51352	0.0924188306998112	0.09173	.	.	0.248287439346	0.03589	T	0.003148	0.02556	T	-0.492625	0.00629	T	-0.587914	0.13846	T	0.0107211948535591	0.00151	T	0.511449	0.16356	T	0.060075898	0.12286	0.08751794	0.20348	0.060075898	0.12285	0.08751794	0.20348	-3.778	0.20506	T	.	.	0.088	0.22135	B	.;.	.;.	1.232107	0.16270	12.43	0.79524369827019337	0.12781	0.27478	0.23289	N	AEFDBI	0.101192	0.20330	N	-0.861506689747269	0.11768	0.5697399	-0.878162768684096	0.12612	0.6497615	0.999926453150897	0.46280	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.21	1.13	0.19758	0.622000	0.24127	-0.207000	0.10889	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.1216:0.6066:0.0:0.2717	6.427	0.20977	294	0.88270	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	833.98	34	chr9	34256749	.	C	T	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.348e+00;DP=999;ExcessHet=0.0000;FS=1.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.770;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,24:61:99:0|1:34256749_C_T:848,0,1439:34256749	20	0	1	0
chr9	34371880	34371880	A	C	exonic	MYORG	.	nonsynonymous SNV	MYORG:NM_020702:exon2:c.T1064G:p.M355R,	.	.	422	1099	1	0	0	1	0.000454752	.	.	1673211	not_provided|MYORG-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.004	B	0.000	D	0.991	D	-0.745	N	1.04	T	-1.053	T	0.017	T	0.118	0.825	8.323	5.76	2.200	1.930	14.894	0.065	.	0.0039	0.00459265	0.0012	0.0139	0.0007	0	0	1.499e-05	0	6.056e-05	0.0011966	185	154602	rs115412086	0.0004	0.0004	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0005	0	0	0	0.0003	7.195e-06	0.0007	6.956e-05	0.0037	0.0037	0.0041	0.0033	0.0132	0.0035	0.0034	0.0123	0.0119	0.0132	0	0.0007	0	0.0002	0	0	1.47e-05	0.0019	0	.	.	.	0.59	0.08217	T	0.001	0.07471	B	0.004	0.10090	B	0.000002	0.62929	D	0.093307	0.991465	0.41395	D	.	.	.	.	.	.	.	.	.	0.254	0.28732	-1.0532	0.13520	T	0.017	0.06902	T	10	0.0073263347	0.00167	T	.	.	.	0.065	0.18881	.	.	0.28722502521	0.28325	0.8662292591351466	0.86587	0.801749316156	0.66284	0.498892128468	0.38673	T	0.148865	0.48761	T	-0.525634	0.00408	T	-0.516137	0.20686	T	0.0323536950923174	0.02364	T	0.822018	0.48145	T	0.8091117	0.84494	0.65748924	0.79941	0.7952455	0.83605	0.7582081	0.85713	-3.073	0.10988	T	0.10553076656434246	0.08378	0.072	0.04277	B	.	.	2.166738	0.27606	17.52	0.89210651550829256	0.18603	0.85437	0.44569	D	AEFDBI	0.347063	0.44167	N	-0.386034455735851	0.25965	1.413556	-0.102091047162714	0.35306	2.041039	0.999999999416329	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.76	5.76	0.90726	1.964000	0.40085	4.134000	0.42048	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.894	0.70271	264	0.89640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2699.98	33	chr9	34371880	.	A	C	2699.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=1183;ExcessHet=0.0000;FS=1.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.678;SOR=0.620	GT:AD:DP:GQ:PL	0/1:104,106:210:99:2714,0,2537	20	0	1	0
chr9	34725207	34725207	C	T	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon4:c.G2033A:p.S678N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.001	B	.	.	1.000	N	0.145	N	0.45	T	-1.042	T	0.068	T	0.022	0.433	6.353	-0.255	-0.206	-0.666	5.385	0.049	0.0245770591433	.	0.00119808	0.0003	0.0024	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs556239931	3.812e-05	5.756e-05	3.703e-05	3.923e-05	0.0009	2.947e-05	2.664e-05	0.0006	0.0005	0.0008	0	0	0	0	0.0009	5.872e-06	0.0002	1.28e-05	8.352e-05	9.878e-05	8.086e-05	8.637e-05	0.0003	4.745e-05	3.708e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.242	0.17584	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.45	0.56446	T	-1.63	0.39119	N	0.028	0.00618	-1.0415	0.16860	T	0.068	0.27743	T	9	0.014147311	0.00298	T	0.024577	0.47567	T	0.049	0.13647	0.624	0.75916	0.0401082797425	0.02173	0.04940649182539	0.04883	.	.	0.323033839464	0.13880	T	0.008985	0.08212	T	-0.369888	0.03600	T	-0.769095	0.02797	T	0.00507115388844504	0.00055	T	0.330567	0.06924	T	0.065355726	0.13958	0.08161369	0.18561	0.065355726	0.13957	0.08161369	0.18560	-5.941	0.45783	T	.	.	0.077	0.06617	B	.	.	0.159635	0.05504	1.968	0.62851413132409439	0.07069	0.01135	0.04122	N	AEFGI	0.025316	0.01713	N	-1.48562501304301	0.01951	0.08565248	-1.47895900855827	0.02517	0.1159103	0.235732247500416	0.18516	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.21	-0.255	0.12346	-1.104000	0.03436	-3.246000	0.02938	-2.066000	0.00410	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1441:0.551:0.0:0.3048	5.385	0.15514	459	0.78817	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	103.33	30	chr9	34725207	.	C	T	103.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.823e+00;DP=716;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=33.93;MQRankSum=-8.830e-01;QD=2.58;ReadPosRankSum=-6.050e-01;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,7:40:99:1|0:34725199_C_T:117,0,1110:34725199	19	0	1	1
chr9	35846541	35846541	C	T	exonic	TMEM8B	.	nonsynonymous SNV	TMEM8B:NM_001363625:exon4:c.C799T:p.R267W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.00599042	0.0029	0.0299	0.0006	0	0	5.632e-05	0	0	0.0012419	192	154602	rs16932715	0.0005	0.0005	0.0006	0.0004	0.0167	0.0005	0.0005	0.0156	0.0151	0.0167	0.0008	0	0	0	0.0023	3.107e-05	0.0013	0.0001	0.0047	0.0047	0.0053	0.0041	0.0164	0.0044	0.0043	0.0153	0.0149	0.0164	0	0.0019	0	0	0	0	4.409e-05	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	696.98	45	chr9	35846541	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.070e+00;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:18,28:46:99:711,0,433	20	0	1	0
chr9	35870274	35870274	G	A	exonic	OR13J1	.	nonsynonymous SNV	OR13J1:NM_001004487:exon1:c.C128T:p.T43I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.071	B	0.023	B	0.787	N	1.000	N	-0.09	N	7.41	T	-1.031	T	0.000	T	0.112	0.541	6.931	3.88	1.612	-0.086	7.346	0.082	.	0.0050	0.00638978	0.0015	0.0159	0.0005	0	0	8.996e-05	0	0	0.0014683	227	154602	rs144077026	0.0005	0.0005	0.0006	0.0004	0.0165	0.0005	0.0004	0.0154	0.0149	0.0165	0.0008	0	0	0	0.0028	1.619e-05	0.0013	9.275e-05	0.0047	0.0047	0.0052	0.0042	0.0163	0.0044	0.0043	0.0153	0.0149	0.0163	0	0.0017	0	0.0002	0	0	2.94e-05	0.0033	0.0002	0.193	0.20912	T	0.349	0.17531	T	0.071	0.23930	B	0.023	0.19966	B	0.787441	0.09424	N	0.889056	1	0.08975	N	-0.425	0.02884	N	7.41	0.00408	T	-2.17	0.49018	N	0.092	0.07125	-1.0312	0.20066	T	0.000	0.00075	T	10	0.0033171773	0.00057	T	.	.	.	0.082	0.23913	.	.	0.243972157842	0.24002	0.16897811184960884	0.16817	0.127045522355	0.14318	0.291860371828	0.09192	T	0.041253	0.25798	T	-0.675348	0.00051	T	-0.729241	0.04361	T	0.00747700061376532	0.00086	T	0.059994	0.00436	T	0.08708164	0.20264	0.13926724	0.33235	0.08708164	0.20264	0.13926724	0.33234	-4.564	0.31716	T	.	.	0.106	0.19760	B	.	.	1.148839	0.15371	11.80	0.97875406184954661	0.36560	0.04113	0.09586	N	AEFGBI	0.071242	0.14175	N	-0.777900679042451	0.13887	0.687475	-0.684083231936986	0.17358	0.9226465	0.986255369770984	0.31031	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.78	3.88	0.43959	-0.190000	0.09612	-0.728000	0.07675	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.744000	0.35576	0.189:0.0:0.811:0.0	7.346	0.25839	238	0.90711	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	810.98	40	chr9	35870274	.	G	A	810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.225e+00;DP=862;ExcessHet=0.0000;FS=1.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-8.200e-01;SOR=0.499	GT:AD:DP:GQ:PL	0/1:46,35:81:99:825,0,1339	20	0	1	0
chr9	35906598	35906598	-	CCACCC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.311_312insCCACCC:p.H107_R108insPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0095	0.0018	0.0053	0.0034	0.0021	0	0.0008	0.0029624	458	154602	rs762598108	0.0062	0.0055	0.0063	0.0060	0.0106	0.0061	0.0060	0.0096	0.0092	0.0018	0.0046	0.0003	0.0106	0.0076	0.0030	0.0067	0.0054	0.0023	0.0085	0.0090	0.0083	0.0088	0.0303	0.0080	0.0077	0.0249	0.0229	0.0026	0	0.0088	0.0013	0.0303	0.0187	0.0114	0.0097	0.0101	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1128.38	42	chr9	35906598	.	A	ACCACCC,ACCACCACCACCACCACCC,C	1128.38	.	AC=1,1,1;AF=0.024,0.024,0.024;AN=42;BaseQRankSum=-1.116e+00;DP=676;ExcessHet=0.3300;FS=0.900;InbreedingCoeff=-0.0768;MLEAC=1,1,1;MLEAF=0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-4.940e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:11,9,0,0:20:99:319,0,395,353,423,775,353,423,775,775	18	0	1	0
chr9	36170280	36170280	C	T	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.C778T:p.R260C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.982	D	0.000	D	0.999	D	0.895	L	-0.26	T	-0.560	T	0.251	T	0.829	2.701	14.99	4.89	2.770	1.956	11.417	0.359	0.0288746508903	0.0002	0.00139776	0.0001	0.0010	8.691e-05	0.0001	0	0	0	0.0002	0.0001552	24	154602	rs140883913	7.799e-05	7.798e-05	6.943e-05	8.663e-05	0.0012	6.6e-05	6.142e-05	0.0009	0.0008	0.0012	2.237e-05	0	2.519e-05	0	0.0005	1.259e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0008	0.076	0.34269	T	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000083	0.51296	D	0.000000	0.998916	0.45677	D	1.1	0.28011	L	-0.26	0.67187	T	-2.32	0.51478	N	0.793	0.78927	-0.5602	0.66396	T	0.251	0.62027	T	10	0.15082088	0.28519	T	0.028875	0.51484	D	0.359	0.67962	.	.	0.872650995292	0.87140	0.58393826963041	0.58322	1.11663288113	0.78184	0.491950631142	0.37709	T	0.030067	0.21398	T	-0.100691	0.36311	T	-0.000443861	0.70307	D	0.051862119354925	0.05824	T	0.842416	0.51891	T	0.119131945	0.28057	0.0865529	0.20060	0.119131945	0.28057	0.0865529	0.20060	-3.901	0.22318	T	.	.	0.529	0.65881	A	.	.	4.671893	0.74675	26.2	0.99898895235422525	0.97124	0.66419	0.33072	D	AEFDBI	0.278606	0.39285	N	0.524118928747788	0.68521	5.228518	0.555555513111676	0.71786	5.708028	0.999999611448047	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	4.89	0.63387	2.104000	0.41440	2.614000	0.33594	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1799:0.8201:0.0:0.0	11.417	0.49200	424	0.81215	.	.	.	.	.	.	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	0.02381	2098.98	34	chr9	36170280	.	C	T	2098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1108;ExcessHet=0.0000;FS=1.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=-2.190e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:69,79:148:99:2113,0,1610	20	0	1	0
chr9	36651765	36651765	C	T	exonic	MELK	.	nonsynonymous SNV	MELK:NM_001256692:exon9:c.C548T:p.T183M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	1.0	D	0.994	D	0.000	D	1.000	D	2.365	M	0.71	T	-0.127	T	0.475	T	0.628	3.965	20.3	5.63	2.652	4.189	15.210	0.337	0.182864735371	0.0002	0.00119808	0.0002	0.0013	0.0003	0	0	0	0	0.0001	0.0001682	26	154602	rs116620621	5.268e-05	5.336e-05	5.855e-05	4.676e-05	0.0011	4.278e-05	3.953e-05	0.0008	0.0007	0.0011	0.0002	0	5.04e-05	0	0.0003	4.497e-06	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.77487	D	0.000001	0.84330	D	0.094756	0.999997	0.58761	D	2.395	0.69210	M	-0.54	0.73311	T	-4.86	0.82764	D	0.378	0.53532	-0.1272	0.79467	T	0.475	0.79878	T	10	0.04056096	0.02635	T	0.182865	0.85648	D	0.337	0.65913	.	.	0.898391810709	0.89738	0.8075592540759439	0.80710	0.529431988237	0.50504	0.510518908501	0.40295	T	0.208901	0.56896	T	-0.138051	0.30202	T	-0.0477819	0.67174	D	0.384167611598969	0.28343	T	0.956971	0.94463	D	0.74283653	0.80455	0.5196286	0.72246	0.74283653	0.80456	0.5196286	0.72246	-11.481	0.84626	D	.	.	0.274	0.64658	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.454674	0.91095	32	0.99899297861447411	0.97124	0.89338	0.49742	D	AEFBI	0.613528	0.60119	D	0.706329668497237	0.80049	7.208581	0.692836303971977	0.81834	7.620438	0.999693737887744	0.41870	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	4.299000	0.58870	7.667000	0.64568	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.210	0.72897	548	0.72362	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1072.98	33	chr9	36651765	.	C	T	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.718;SOR=0.747	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1087,0,1364	20	0	1	0
chr9	37126591	37126591	G	A	exonic	ZCCHC7	.	nonsynonymous SNV	ZCCHC7:NM_001289119:exon2:c.G259A:p.D87N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.002	N	1.000	D	1.905	M	1.26	T	-0.514	T	0.270	T	0.082	4.421	23.5	5.64	2.810	5.035	20.055	0.226	0.0389775096761	0.0015	0.00259585	0.0005	0.0056	0.0002	0	0	0	0	0	0.0004722	73	154602	rs149464303	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0041	0.0039	0.0047	0	0	0	0	0.0005	1.799e-06	0.0003	3.478e-05	0.0013	0.0013	0.0014	0.0012	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0006	0	0	0	0	4.41e-05	0.0009	0	0.019	0.50676	D	0.033	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001908	0.37691	N	0.258323	0.999457	0.81001	D	2.485	0.72352	M	1.26	0.54347	T	-0.92	0.77717	N	0.326	0.38950	-0.5143	0.68128	T	0.270	0.64172	T	10	0.0073604584	0.00167	T	0.038978	0.58541	D	0.226	0.52472	.	.	0.21737058555	0.21362	0.13556355052852817	0.13480	0.515395677199	0.49451	0.582183122635	0.50393	T	0.039	0.50055	T	-0.479402	0.00745	T	-0.460313	0.26565	T	0.0527248391443438	0.05972	T	0.812919	0.46506	T	0.06624675	0.14235	0.07696063	0.17097	0.06624675	0.14235	0.07696063	0.17097	-6.127	0.47330	T	.	.	0.122	0.31100	B	.;.;.	.;.;.	4.740991	0.76452	26.5	0.99926317544387122	0.99103	0.92959	0.56970	D	AEFGBHCI	0.438724	0.49800	N	0.741697621795312	0.82361	7.744074	0.73022081637721	0.84672	8.357968	0.999999999999799	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	5.190000	0.64944	11.838000	0.97738	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.055	0.97648	487	0.76954	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2085.98	34	chr9	37126591	.	G	A	2085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.916e+00;DP=821;ExcessHet=0.0000;FS=0.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=1.32;SOR=0.602	GT:AD:DP:GQ:PL	0/1:61,76:137:99:2100,0,1868	20	0	1	0
chr9	39149856	39149856	C	-	exonic	CNTNAP3	.	frameshift deletion	CNTNAP3:NM_033655:exon10:c.1599delG:p.L534Wfs*9,	.	.	485	1006	31	0	0	31	0.0151738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	rs1453339510	0.0004	0.0051	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0006	0.0001	0.0009	0.0004	0	0.0001	0.0002	0.0004	0.0004	0.0001	0.0003	0.0022	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0011	0.0005	0	0	0.0002	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	159.07	14	chr9	39149855	.	GC	G	159.07	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-8.540e-01;DP=226;ExcessHet=0.1128;FS=2.515;InbreedingCoeff=-0.0613;MLEAC=2;MLEAF=0.050;MQ=32.76;MQRankSum=-1.981e+00;QD=10.60;ReadPosRankSum=-9.920e-01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:39149855_GC_G:69,0,204:39149855	18	0	2	1
chr9	39149858	39149858	C	A	exonic	CNTNAP3	.	nonsynonymous SNV	CNTNAP3:NM_033655:exon10:c.G1597T:p.A533S,	.	.	485	1003	34	0	0	34	0.0166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.01	B	0.008	B	.	.	1.000	N	0.345	N	-1.03	T	-0.982	T	0.172	T	0.282	-1.370	0.026	-0.119	0.110	-0.964	3.478	0.162	0.0108717051771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484419033	0.0004	0.0052	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0005	0.0002	0.0008	0.0005	0	9.564e-05	0	0.0004	0.0004	8.299e-05	0.0002	0.0022	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0.0011	0.0003	0	0	0.0002	0	0.0003	0	0	1.0	0.02161	T	0.774	0.04619	T	0.001	0.15535	B	0.002	0.13708	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-1.03	0.76430	T	0.2	0.06138	N	0.062	0.06322	-0.9820	0.34538	T	0.172	0.51341	T	9	0.052612126	0.05321	T	0.010872	0.27894	T	0.162	0.41843	.	.	0.433600339574	0.42977	0.3437098445241947	0.34284	.	.	0.677286505699	0.63879	T	3.38E-4	0.00092	T	-0.132436	0.31102	T	-0.428011	0.30161	T	0.015555230591159	0.00353	T	0.561544	0.19673	T	0.03978719	0.05560	0.041134737	0.04607	0.03978719	0.05559	0.041134737	0.04607	-5.51	0.41961	T	.	.	0.068	0.05404	B	.;.;.;.	.;.;.;.	-0.079541	0.03764	0.786	0.91750366764953561	0.21049	0.04865	0.10603	N	AEFCI	0.055787	0.10258	N	-1.06548804724725	0.07287	0.3380553	-1.03089460491369	0.09110	0.4514132	7.75493372009555E-5	0.04552	0.615465	0.37627	0	0.588015	0.36545	0	0.685742	0.62368	0	0.655142	0.61905	0	.	.	2.95	-0.119	0.12883	-1.304000	0.02849	-15.477000	0.00355	-0.361000	0.05505	0.000000	0.06391	0.000000	0.08366	0.758000	0.36073	0.1852:0.4881:0.0:0.3267	3.478	0.07157	988	0.01987	Laminin G domain;Laminin G domain;Laminin G domain;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.05	159.13	14	chr9	39149858	.	C	A	159.13	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-1.068e+00;DP=237;ExcessHet=0.1128;FS=2.515;InbreedingCoeff=-0.0618;MLEAC=2;MLEAF=0.050;MQ=34.38;MQRankSum=-1.981e+00;QD=10.61;ReadPosRankSum=-9.920e-01;SOR=0.180	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:39149855_GC_G:69,0,204:39149855	18	0	2	1
chr9	41127944	41127944	C	A	exonic	FOXD4L6	.	nonsynonymous SNV	FOXD4L6:NM_001085476:exon1:c.G440T:p.R147L,	.	.	918	595	5	4	0	13	0.0108063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.984	D	0.908	P	0.002	U	0.902	D	0.345	N	-3.7	D	0.528	D	0.767	D	0.347	3.422	17.57	2.2	1.220	2.231	4.869	0.594	0.0482814857573	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1246870379	0.0035	0.0033	0.0029	0.0042	0.0164	0.0034	0.0034	0.0154	0.0151	0.0003	0.0017	0.0040	3.266e-05	0.0019	0.0118	0.0026	0.0037	0.0164	0.0021	0.0022	0.0015	0.0028	0.0116	0.0016	0.0015	0.0040	0.0024	0.0007	0	0.0018	0.0044	0	0.0032	0	0.0023	0	0.0116	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	0.45334756	0.58837	T	.	.	.	.	.	.	.	.	.	0.09492818859971522	0.09424	.	.	.	.	.	0.648786	0.89317	D	.	.	.	.	.	.	.	.	.	0.948605	0.80233	D	.	.	.	.	.	.	.	.	-5.084	0.37738	T	.	.	0.434	0.61403	A	.	.	4.560097	0.71854	25.7	.	.	.	.	.	.	0.549307	0.56224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.736000	0.37811	2.496000	0.33006	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	.	.	.	994	0.00715	Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	165.31	11	chr9	41127944	.	C	A	165.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=101;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0455;MLEAC=2;MLEAF=0.053;MQ=24.43;MQRankSum=1.28;QD=13.78;ReadPosRankSum=-5.240e-01;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:83:0|1:41127944_C_A:83,0,97:41127944	17	0	2	2
chr9	68391632	68391632	C	G	exonic	PGM5	.	nonsynonymous SNV	PGM5:NM_021965:exon5:c.C796G:p.H266D,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.083	B	0.208	B	0.003	N	0.999	D	2.98	M	-0.08	T	-0.502	T	0.307	T	0.543	2.335	13.77	4.02	1.068	2.611	6.961	0.348	0.181358550854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.736e-06	2.724e-06	2.751e-06	0.0007	6.4e-07	4.3e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.083	0.24734	B	0.208	0.37221	B	0.003410	0.34985	N	0.304797	0.998628	0.45182	D	3.24	0.89678	M	-0.08	0.63911	T	-8.06	0.97347	D	0.544	0.57775	-0.5020	0.68578	T	0.307	0.67731	T	10	0.836751	0.82830	D	0.181359	0.85550	D	0.348	0.66956	0.775	0.90080	0.472611402724	0.46890	0.7114830294171606	0.71090	0.60118110656	0.55167	0.642312526703	0.58893	T	0.663421	0.89927	D	0.0370686	0.56659	T	-0.18453	0.56100	T	0.997135877609253	0.90849	D	0.966503	0.87759	D	0.6624897	0.76032	0.60915804	0.77269	0.6624897	0.76033	0.60915804	0.77270	-13.439	0.91090	D	.	.	0.367	0.69946	A	.;.;.	.;.;.	4.065930	0.60378	24.2	0.98497443263767925	0.42180	0.92469	0.55784	D	AEFI	0.739897	0.68431	D	-0.0671067509116867	0.38843	2.281185	-0.00732247122637028	0.39383	2.334264	0.00157368319332963	0.08657	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.92	4.02	0.45968	2.668000	0.46481	4.011000	0.41162	-0.203000	0.08628	0.996000	0.39380	1.000000	0.68203	0.978000	0.57271	0.0:0.7269:0.0:0.2731	6.961	0.23777	988	0.01987	.;Alpha-D-phosphohexomutase, alpha/beta/alpha domain II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	729.33	33	chr9	68391632	.	C	G	729.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.391e+00;DP=735;ExcessHet=0.0000;FS=3.271;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=50.97;MQRankSum=-7.500e-02;QD=9.86;ReadPosRankSum=3.28;SOR=0.366	GT:AD:DP:GQ:PL	0/1:44,30:74:99:743,0,1295	19	0	1	1
chr9	70318794	70318794	G	A	exonic	SMC5	.	nonsynonymous SNV	SMC5:NM_015110:exon15:c.G1981A:p.E661K,	.	.	.	.	.	.	.	.	.	0.9618	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	D	0.659	P	0.015	N	1.000	D	1.76	L	2.05	T	-1.145	T	0.078	T	0.367	1.869	12.21	5.33	2.503	3.086	14.373	0.083	0.0152408655847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.089	0.40426	T	0.97	0.56973	D	0.659	0.52771	P	0.014696	0.28458	N	0.394533	1	0.81001	D	2.39	0.68882	M	2.05	0.20664	T	-1.95	0.45222	N	0.194	0.21319	-1.1446	0.01195	T	0.078	0.31133	T	9	0.2608875	0.43542	T	0.015241	0.35857	T	0.083	0.24192	0.473	0.54859	0.193917141947	0.19028	0.37411358949642437	0.37325	0.244403056809	0.26944	0.432915270329	0.29607	T	0.242975	0.61182	T	-0.109679	0.34820	T	-0.395323	0.33928	T	0.79546445608139	0.46049	D	0.892111	0.62800	D	0.19477879	0.41240	0.21387163	0.45915	0.19477879	0.41240	0.21387163	0.45914	-7.362	0.56636	T	.	.	0.210	0.43788	B	.	.	4.188314	0.63110	24.5	0.99743334664487826	0.83703	0.93473	0.58312	D	AEFGBI	0.496108	0.53120	N	0.435976464689098	0.63411	4.574445	0.419900382829896	0.62805	4.502373	0.812528904911758	0.24381	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.33	5.33	0.75683	5.123000	0.64543	9.874000	0.82149	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.482000	0.28611	0.0735:0.0:0.9265:0.0	14.373	0.66416	988	0.01987	RecF/RecN/SMC, N-terminal	.	.	.	.	.	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	0.02381	154.98	34	chr9	70318794	.	G	A	154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.699;DP=665;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.46;ReadPosRankSum=0.699;SOR=0.287	GT:AD:DP:GQ:PL	0/1:17,7:24:99:169,0,492	20	0	1	0
chr9	70549555	70549555	C	A	exonic	TRPM3	.	nonsynonymous SNV	TRPM3:NM_001366150:exon23:c.G3628T:p.V1210L	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.984	D	0.891	P	0.000	D	1.000	D	1.995	M	1.03	T	-0.881	T	0.235	T	0.732	4.012	20.6	6.16	2.937	5.763	20.860	0.251	0.0206056193591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.44358	T	0.126	0.44702	T	0.307	0.60733	B	0.144	0.61279	B	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	.	.	.	1.03	0.40469	T	-1.74	0.46146	N	0.729	0.80964	-0.8810	0.49681	T	0.235	0.60234	T	10	0.43052292	0.57459	T	0.020606	0.43239	T	0.251	0.56024	0.173	0.07894	0.590168613009	0.58692	0.4454560034315215	0.44463	0.21243972254	0.23743	0.876385807991	0.93468	D	0.088681	0.38296	T	0.0497215	0.58308	T	-0.166355	0.57776	T	0.973144888877869	0.69977	D	0.942906	0.81867	D	.	.	.	.	.	.	.	.	-10.659	0.81896	D	.	.	0.696	0.78324	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.476000	0.69796	25.4	0.9912138423354192	0.53011	0.98465	0.83062	D	AEFI	0.864286	0.78305	D	0.42935704020455	0.63042	4.530665	0.548929510679988	0.71323	5.63731	0.999999999999982	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.16	6.16	0.99302	5.838000	0.69097	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	20.860	0.99763	.	.	.;.;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain;TRPM, tetramerisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	34	chr9	70549555	.	C	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.710e-01;DP=803;ExcessHet=0.0000;FS=6.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=1.13;SOR=0.627	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1055,0,1113	20	0	1	0
chr9	72740135	72740135	G	A	exonic	TMC1	.	nonsynonymous SNV	TMC1:NM_138691:exon9:c.G379A:p.V127M,	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1860427	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.985	D	0.000	D	0.999	D	2.235	M	2.36	T	-1.032	T	0.119	T	0.617	3.767	19.13	5.62	2.639	5.421	15.169	0.186	0.00642332147189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417764398	2.737e-06	2.736e-06	4.085e-06	1.376e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.55e-05	0	0	0	0	0	0.0005	8.995e-07	0	0	1.315e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999032	0.45921	D	3.34	0.90961	M	2.36	0.16089	T	-2.68	0.57275	D	0.447	0.48504	-1.0323	0.19713	T	0.119	0.41756	T	10	0.36838552	0.53282	T	0.006423	0.16899	T	0.186	0.46104	0.345	0.33950	0.510054698054	0.50647	0.5918072866013646	0.59110	0.643341671489	0.57872	0.714185118675	0.69200	T	0.630677	0.88550	D	-0.0217689	0.48602	T	-0.269046	0.47917	T	0.990163207054138	0.80380	D	0.838216	0.51127	T	0.54283893	0.69555	0.54629374	0.73773	0.54283893	0.69556	0.54629374	0.73773	-6.303	0.48746	T	.	.	0.727	0.79122	P	.;.;.;.	.;.;.;.	5.004819	0.83070	27.9	0.99889401076523376	0.96359	0.89930	0.50723	D	AEFI	0.593366	0.58872	D	0.789633437852169	0.85453	8.580426	0.772967513104591	0.87860	9.370187	0.997097501755485	0.35269	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	4.856000	0.62632	11.624000	0.93645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.169	0.72532	576	0.70006	.;.;.;.	.	.	.	.	.	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	0.02381	646.98	34	chr9	72740135	.	G	A	646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=789;ExcessHet=0.0000;FS=0.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=-1.180e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/1:55,27:82:99:661,0,1341	20	0	1	0
chr9	78248299	78248299	A	G	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon7:c.A901G:p.M301V	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	836263	Cone-rod_dystrophy_and_hearing_loss_1|not_provided	MONDO:MONDO:0020778,MedGen:C5193018,OMIM:617236|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.036	N	0.925	N	-1.1	N	0.73	T	-1.026	T	0.029	T	0.035	0.270	5.459	-0.082	0.054	-0.030	2.554	0.047	0.00515634486822	0.0009	.	0.0003	0	9.839e-05	0	0.0002	0.0005	0	0.0002	0.0003169	49	154602	rs200072743	0.0006	0.0007	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0	0	0	0	0	0.0008	0.0003	0.0001	0.0005	0.0005	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	0.0003	0	0	0	0	0	0	0.0008	0.0005	0.0002	0.508	0.07969	T	0.363	0.17640	T	0.0	0.02946	B	0.001	0.04355	B	0.035781	0.24603	N	0.412475	0.924923	0.27204	N	0	0.06538	N	0.73	0.50721	T	-0.25	0.12283	N	0.131	0.13769	-1.0261	0.21723	T	0.029	0.12541	T	10	0.02066797	0.00480	T	0.005156	0.13094	T	0.047	0.12962	.	.	0.165133752707	0.16062	0.19977263746680388	0.19894	0.0146073413926	0.01385	0.274392366409	0.06722	T	0.01827	0.14759	T	-0.592113	0.00163	T	-0.728621	0.04390	T	0.00292016374432808	0.00031	T	0.680832	0.29103	T	0.022546858	0.00926	0.026033938	0.00672	0.022546858	0.00926	0.026033938	0.00672	-4.964	0.36905	T	0.0965008382768766	0.06684	0.050	0.00593	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.673537	0.10422	7.142	0.49909039176031672	0.04291	0.07728	0.13729	N	AEFBI	0.044515	0.07171	N	-1.29381225367217	0.03749	0.1680364	-1.08454951648405	0.08003	0.3916881	0.0543196962614549	0.14969	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.03	-0.0823	0.13033	0.103000	0.15128	0.274000	0.16691	-1.419000	0.01127	0.181000	0.24076	0.697000	0.26210	0.972000	0.54974	0.1189:0.2193:0.4241:0.2378	2.554	0.04468	954	0.10045	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	825.98	33	chr9	78248299	.	A	G	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.86;ReadPosRankSum=1.12;SOR=0.569	GT:AD:DP:GQ:PL	0/1:15,34:49:99:840,0,271	20	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.765	19.11	5.5	2.594	9.672	19.387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	772.26	67	chr9	86018822	.	G	C	772.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.944e+00;DP=1493;ExcessHet=2.5830;FS=140.242;InbreedingCoeff=-0.2308;MLEAC=6;MLEAF=0.158;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=1.32;SOR=10.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,11:75:55:0|1:86018822_G_C:55,0,1791:86018822	12	0	7	2
chr9	89045776	89045776	C	T	exonic	SHC3	.	nonsynonymous SNV	SHC3:NM_016848:exon9:c.G1171A:p.E391K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.919	P	0.184	B	0.045	N	1.000	D	1.39	L	1.64	T	-1.075	T	0.064	T	0.474	2.525	14.40	5.25	2.735	5.908	19.036	0.161	0.0146786134575	.	.	8.242e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs751313718	2.736e-06	2.736e-06	0	5.5e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.873e-05	0	2.698e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.225	0.18626	T	0.78	0.04330	T	0.919	0.50927	P	0.184	0.35999	B	0.045493	0.23532	N	0.487586	0.99997	0.81001	D	2.6	0.76081	M	1.64	0.27822	T	-0.76	0.21215	N	0.347	0.38848	-1.0751	0.08328	T	0.064	0.26349	T	10	0.34265518	0.51293	T	0.014679	0.34954	T	0.161	0.41658	0.504	0.59770	0.565318601174	0.56196	0.25960077275333626	0.25874	0.421060064074	0.42620	0.426449477673	0.28723	T	0.297648	0.67024	T	-0.199113	0.20934	T	-0.342261	0.40088	T	0.79804527759552	0.46221	D	0.840116	0.51512	T	0.1888861	0.40407	0.1165951	0.28147	0.1888861	0.40407	0.1165951	0.28146	-4.848	0.35145	T	.	.	0.079	0.07272	B	.	.	4.000739	0.58953	24.0	0.99545615776095642	0.70773	0.99070	0.90786	D	AEFBI	0.815728	0.73763	D	0.270300031403528	0.54649	3.630069	0.316606094420373	0.56514	3.814959	0.999999999688276	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.25	5.25	0.73169	5.969000	0.70127	5.748000	0.49611	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.375000	0.26223	0.0:1.0:0.0:0.0	19.036	0.92959	928	0.17405	.	.	.	.	.	.	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	0.02381	2506.98	35	chr9	89045776	.	C	T	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.50;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-6.520e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:78,96:174:99:2521,0,1696	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	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;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:178,111:305:99:539,0,3101	0	0	21	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,30,29,0,0,0:59:99:2180,1095,1141,1179,0,1153,2239,1171,1215,2329,2239,1171,1215,2329,2329,2239,1171,1215,2329,2329,2329	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,30,29,0,0,0:59:99:2180,1095,1141,1179,0,1153,2239,1171,1215,2329,2239,1171,1215,2329,2329,2239,1171,1215,2329,2329,2329	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,30,29,0,0,0:59:99:2180,1095,1141,1179,0,1153,2239,1171,1215,2329,2239,1171,1215,2329,2329,2239,1171,1215,2329,2329,2329	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/2:0,30,29,0,0,0:59:99:2180,1095,1141,1179,0,1153,2239,1171,1215,2329,2239,1171,1215,2329,2329,2239,1171,1215,2329,2329,2329	1	2	3	0
chr9	96819529	96819529	C	A	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G422T:p.R141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	.	.	1.000	P	-0.895	N	5.98	T	-0.932	T	0.004	T	0.327	-0.408	2.091	-4.0	-1.320	-0.145	3.225	0.041	0.000896652167863	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs4645656	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.08943	T	0.912	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.445	0.00556	N	3.69	0.04114	T	2.37	0.00310	N	0.063	0.04668	-0.9319	0.43859	T	0.004	0.01330	T	8	0.033929974	0.01583	T	8.97E-4	0.00844	T	0.041	0.10877	0.524	0.62818	0.254244900254	0.25046	0.04433362831807223	0.04377	0.125945359065	0.14199	0.278184771538	0.07240	T	0.001582	0.01021	T	-0.264268	0.12404	T	-0.617379	0.11391	T	0.019273647166571	0.00633	T	0.0590941	0.00855	T	0.040805943	0.05892	0.041228253	0.04637	0.040805943	0.05892	0.041228253	0.04637	-2.08	0.03499	T	.	.	0.106	0.21578	B	.;.;.	.;.;.	-0.054531	0.03919	0.867	0.15256631057433792	0.00366	0.00002	0.00064	N	AEFGBHCI	0.015981	0.00332	N	-1.81364783500322	0.00512	0.02206136	-1.82350469604324	0.00687	0.03056922	0.0318755322217933	0.14025	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.38	-4.0	0.03787	0.300000	0.18911	-0.256000	0.10466	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1753:0.4618:0.0921:0.2708	3.225	0.06331	757	0.50970	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	8824.62	126	chr9	96819529	.	C	A,T	8824.62	.	AC=1,4;AF=0.024,0.095;AN=42;BaseQRankSum=2.56;DP=1311;ExcessHet=1.1607;FS=1.745;InbreedingCoeff=-0.1351;MLEAC=1,4;MLEAF=0.024,0.095;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-5.840e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/2:71,0,61:132:99:1645,1857,3750,0,1893,1710	16	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,6:6:19:.:.:231,231,231,19,19,0	2	0	1	0
chr9	112111798	112111798	G	A	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon8:c.C1027T:p.R343C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.707	P	0.024	N	0.970	N	0	N	-0.75	T	-1.034	T	0.049	T	0.493	3.013	16.05	4.7	1.471	3.323	9.929	0.026	0.017239269672	7.7e-05	0.000199681	0.0002	0	0.0004	0	0.0002	0.0003	0.0011	0.0001	0.000207	32	154602	rs145780084	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.9e-05	0.0001	0.0001	0	0.0002	0.0033	2.519e-05	0	0.0002	4.047e-05	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0002	0.0001	0	0.0296	0.0004	0.0040	0	9.434e-05	0	2.94e-05	0.0005	0.0002	0.003	0.72154	D	0.045	0.51112	D	0.998	0.73220	D	0.707	0.54387	P	0.024009	0.26338	N	0.270733	0.969904	0.25730	N	0	0.06538	N	-0.78	0.74159	T	-1.74	0.41239	N	0.342	0.38335	-1.0342	0.19109	T	0.049	0.20987	T	10	0.00815174	0.00185	T	0.017239	0.38857	T	0.345	0.66676	.	.	0.510700632011	0.50711	0.3618187410724105	0.36095	0.467196665492	0.46105	0.335422039032	0.15751	T	0.023487	0.17920	T	-0.195188	0.21501	T	-0.224663	0.52287	T	0.0630732216699709	0.07643	T	0.738026	0.35555	T	0.07835325	0.17837	0.057091005	0.10317	0.07835325	0.17837	0.057091005	0.10317	-8.487	0.64343	D	.	.	0.194	0.41526	B	.;.;.	.;.;.	4.220911	0.63840	24.6	0.99812745516878609	0.89620	0.78927	0.39018	D	AEFDBI	0.398014	0.47386	N	-0.0138953185831274	0.41226	2.462181	0.0851996297612083	0.43803	2.674592	0.999999611205708	0.74766	0.706548	0.73137	0	0.659037	0.61890	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	5.61	4.7	0.58776	2.478000	0.44848	6.552000	0.55914	0.676000	0.76740	0.668000	0.28331	0.999000	0.35428	0.971000	0.54645	0.0952:0.0:0.9048:0.0	9.929	0.40679	825	0.40060	.;.;.	.	.	.	.	.	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	0.02381	1409.98	33	chr9	112111798	.	G	A	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.491;DP=796;ExcessHet=0.0000;FS=1.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.386;SOR=0.505	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1424,0,1154	20	0	1	0
chr9	114048663	114048663	G	T	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon14:c.G1262T:p.G421V	.	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.22	B	0.058	B	0.075	N	0.999	D	.	.	4.48	T	-0.779	T	0.005	T	0.24	2.308	13.68	3.16	1.134	4.804	10.574	0.029	.	0.0002	0.00179712	0.0017	0	0.0003	0	0	0.0007	0.0012	0.0109	0.0014424	223	154602	rs190597134	0.0009	0.0009	0.0006	0.0011	0.0092	0.0008	0.0008	0.0086	0.0084	8.966e-05	0.0002	0.0051	0	1.877e-05	0.0031	0.0002	0.0011	0.0092	0.0005	0.0005	0.0005	0.0005	0.0062	0.0004	0.0004	0.0045	0.0039	4.812e-05	0	0.0002	0.0063	0.0002	0	0	0.0003	0.0005	0.0062	0.044	0.41096	D	0.034	0.52727	D	0.112	0.26290	B	0.039	0.23607	B	0.074829	0.21260	N	0.482787	0.999259	0.46462	D	1.1	0.28011	L	4.48	0.02067	T	-1.44	0.35399	N	0.298	0.33687	-0.7793	0.56342	T	0.005	0.01761	T	9	0.0047299564	0.00100	T	.	.	.	0.029	0.06676	.	.	0.043077524339	0.03247	0.5078357874647947	0.50705	0.591383642499	0.54578	0.483469903469	0.36534	T	0.042757	0.26284	T	-0.545226	0.00312	T	-0.548564	0.17464	T	0.0197437930516897	0.00676	T	0.816518	0.47234	T	0.08769088	0.20431	0.13134418	0.31541	0.08769088	0.20430	0.13134418	0.31540	-2.721	0.08739	T	.	.	0.076	0.05890	B	.;.;.	.;.;.	4.011455	0.59186	24.1	0.98320122170880031	0.40231	0.95229	0.63916	D	AEFDBI	0.445281	0.50182	N	-0.194993112299103	0.33343	1.890552	-0.0647576770646526	0.36857	2.150452	0.94612588359683	0.27692	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	3.16	0.35406	2.324000	0.43491	7.363000	0.58355	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.994000	0.71098	0.0:0.1443:0.706:0.1496	10.574	0.44406	777	0.48198	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	574.98	33	chr9	114048663	.	G	T	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e-01;DP=876;ExcessHet=0.0000;FS=1.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=-2.530e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/1:34,24:58:99:589,0,927	20	0	1	0
chr9	115073777	115073777	G	A	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon10:c.C3040T:p.R1014C,	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.996	D	0.935	D	0.066	N	0.998	D	2.82	M	0.33	T	-0.122	T	0.422	T	0.45	3.945	20.2	4.93	2.774	2.360	16.401	0.363	0.023846580156	.	.	6.596e-05	0	8.648e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs373842890	3.694e-05	3.694e-05	3.403e-05	3.988e-05	0.0001	2.894e-05	2.592e-05	5.849e-05	3.758e-05	0.0001	6.708e-05	0	2.519e-05	0	0	3.237e-05	8.279e-05	4.638e-05	3.943e-05	3.94e-05	1.285e-05	6.727e-05	0.0002	1.716e-05	1.13e-05	2.26e-05	9.07e-06	4.826e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.028	0.51248	D	0.005	0.72224	D	0.921	0.68779	P	0.773	0.67021	P	0.065820	0.21854	N	0.529841	0.998034	0.44438	D	2.97	0.85306	M	0.33	0.58323	T	-3.37	0.75456	D	0.321	0.46180	-0.1222	0.79583	T	0.422	0.76704	T	10	0.5339922	0.63343	D	0.023847	0.46827	T	0.363	0.68319	0.758	0.88730	0.826535943218	0.82489	0.6244939248117493	0.62382	0.699871661359	0.61068	0.184326082468	0.00140	T	0.414033	0.76771	T	-0.153893	0.27706	T	-0.261862	0.48638	T	0.626159071922302	0.37459	D	0.983402	0.94400	D	0.46928665	0.65246	0.26494125	0.52321	0.46928665	0.65247	0.26494125	0.52320	-9.256	0.81331	D	0.3304546810669847	0.42849	0.195	0.41663	B	.;.;.;.;.;.	.;.;.;.;.;.	5.262030	0.88351	29.6	0.99941176730608661	0.99797	0.89580	0.50135	D	AEFBI	0.519615	0.54482	D	0.693955542118845	0.79237	7.035393	0.664248350480558	0.79674	7.132983	0.999943396304904	0.47345	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.85	4.93	0.64394	1.413000	0.34333	7.501000	0.59489	0.676000	0.76740	0.896000	0.31333	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8679:0.1321	16.401	0.83479	551	0.72115	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;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1656.98	34	chr9	115073777	.	G	A	1656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=945;ExcessHet=0.0000;FS=5.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-2.700e-01;SOR=1.091	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1671,0,1903	20	0	1	0
chr9	122567960	122567960	T	C	exonic	OR1L8	.	nonsynonymous SNV	OR1L8:NM_001004454:exon1:c.A518G:p.N173S,	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.372	B	0.34	B	0.033	N	1.000	N	2.595	M	8.46	T	-1.048	T	0.001	T	0.015	2.525	14.40	3.35	0.879	0.769	7.333	0.101	.	0.0065	0.00539137	0.0019	0.0201	0.0010	0.0007	0	4.496e-05	0	6.057e-05	0.0017658	273	154602	rs112105797	0.0006	0.0006	0.0007	0.0005	0.0214	0.0006	0.0006	0.0201	0.0196	0.0214	0.0009	0	0.0004	0	0.0005	7.014e-05	0.0013	0.0001	0.0059	0.0059	0.0056	0.0062	0.0211	0.0056	0.0055	0.0200	0.0195	0.0211	0	0.0008	0	0.0002	0	0	4.412e-05	0.0024	0	0.046	0.40573	D	0.052	0.47581	T	0.372	0.34134	B	0.34	0.42389	B	0.033176	0.24932	N	0.283555	1	0.08975	N	2.155	0.60227	M	8.46	0.00221	T	-4.15	0.75297	D	0.119	0.10911	-1.0484	0.14846	T	0.001	0.00188	T	10	0.0044124722	0.00090	T	.	.	.	0.101	0.28911	.	.	0.32714864917	0.32323	0.05195506963144553	0.05137	0.165598894335	0.18678	0.195183485746	0.00330	T	0.013899	0.11931	T	-0.71038	0.00032	T	-0.775602	0.02589	T	0.0468127200199182	0.04931	T	0.742326	0.36163	T	0.19427337	0.41170	0.21432604	0.45978	0.19427337	0.41170	0.21432604	0.45977	-5.942	0.45791	T	.	.	0.088	0.11893	B	.;.	.;.	1.461554	0.18842	13.95	0.99384820318634615	0.62068	0.14067	0.18204	N	AEFGBI	0.086079	0.17452	N	-0.369018337549987	0.26579	1.451656	-0.390711679828631	0.25272	1.388843	0.163755734964202	0.17633	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	3.35	0.37468	0.570000	0.23357	-5.324000	0.01761	-0.727000	0.03751	0.000000	0.06391	0.000000	0.08366	0.126000	0.19410	0.0:0.1782:0.0:0.8218	7.333	0.25766	941	0.13089	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	0.04762	2423.11	96	chr9	122567960	.	T	C	2423.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.689;DP=1822;ExcessHet=0.1072;FS=0.511;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.577;SOR=0.650	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1248,0,1254	19	0	2	0
chr9	123377030	123377030	C	T	exonic	CRB2	.	nonsynonymous SNV	CRB2:NM_173689:exon13:c.C3826T:p.L1276F,	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	.	371	1150	1	0	0	1	0.000434594	.	.	1602427	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.033	N	1.000	D	2.25	M	-2.36	D	0.866	D	0.852	D	0.346	4.655	25.6	5.27	2.461	3.121	13.219	0.595	0.272765687376	.	0.000199681	0.0005	0	0.0002	0	0	0	0	0.0041	0.0002652	41	154602	rs529201914	0.0001	0.0002	9.323e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0.0004	0	0.0002	0.0024	6.565e-05	6.562e-05	5.138e-05	8.057e-05	0.0021	3.514e-05	2.614e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.033072	0.24945	N	0.196493	1	0.81001	D	2.525	0.73725	M	-2.36	0.88143	D	-2.56	0.55339	D	0.203	0.22486	0.866	0.95233	D	0.852	0.95077	D	10	0.020474374	0.00472	T	0.272766	0.89942	D	0.595	0.83911	0.324	0.30549	0.97252616999	0.97222	0.2949711514730339	0.29410	0.314377265389	0.33721	0.792335808277	0.80798	T	0.424369	0.77482	T	-0.229449	0.16722	T	-0.107291	0.62826	T	0.247496382263351	0.22761	T	0.790321	0.43084	T	0.23971505	0.46865	0.20183882	0.44182	0.274367	0.50502	0.20507929	0.44659	-10.628	0.77579	D	.	.	0.690	0.72540	P	.	.	4.258329	0.64698	24.7	0.99898628495950659	0.97124	0.91221	0.53098	D	AEFDGBCI	0.459443	0.51005	N	0.677033750790324	0.78128	6.809464	0.642785985286807	0.78075	6.803747	0.999999999985645	0.74766	0.695654	0.57023	0	0.759151	0.99529	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.27	5.27	0.73797	2.579000	0.45725	5.981000	0.52169	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.9235:0.0:0.0765	13.219	0.59301	376	0.83959	.	.	.	.	.	.	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	0.02381	855.98	37	chr9	123377030	.	C	T	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.160e-01;DP=878;ExcessHet=0.0000;FS=0.839;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=1.35;SOR=0.558	GT:AD:DP:GQ:PL	0/1:45,37:82:99:870,0,1145	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:38,0,22:60:99:0|1:127707148_G_A:311,415,1089,0,674,611:127707148	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,10:58:75:0|1:127707148_G_A:75,0,1730:127707148	10	0	10	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,10:58:75:0|1:127707148_G_A:75,0,1730:127707148	12	0	9	0
chr9	127720334	127720334	A	T	exonic	TTC16	.	nonsynonymous SNV	TTC16:NM_001317037:exon6:c.A557T:p.Q186L	.	.	429	1087	6	0	0	6	0.00275229	.	.	3337345	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.003	B	0.006	B	0.045	N	1.000	N	0.6	N	1.49	T	-1.089	T	0.070	T	0.157	0.137	4.735	-1.75	-0.229	0.347	0.351	0.046	0.00478557097961	.	.	0.0004	0	8.649e-05	0	0.0005	0.0003	0.0011	0.0012	0.0003299	51	154602	rs199988634	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	2.987e-05	0.0002	0	0	0.0005	0.0005	0.0003	0.0003	0.0011	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0004	0	0	0.0009	0	0.0004	0.0005	0.0006	0.345	0.12511	T	0.196	0.27943	T	0.003	0.11197	B	0.006	0.12133	B	0.044888	0.01939	N	1.974330	1	0.08975	N	1.5	0.37844	L	0.68	0.51952	T	-3.73	0.70920	D	0.269	0.30461	-1.0894	0.05633	T	0.070	0.28412	T	10	0.016613662	0.00351	T	0.004786	0.11941	T	0.046	0.12618	.	.	0.470566500458	0.46685	0.11643789719278289	0.11571	0.154030541235	0.17391	0.243443250656	0.03108	T	0.038089	0.24714	T	-0.511156	0.00494	T	-0.563365	0.16062	T	0.0266434656445041	0.01494	T	0.361964	0.08365	T	0.06902892	0.15089	0.082287535	0.18768	0.06902892	0.15088	0.082287535	0.18767	-8.352	0.63445	D	.	.	0.119	0.24294	B	.	.	0.666978	0.10352	7.082	0.77470235569658508	0.11889	0.04619	0.10280	N	AEFGBI	0.074381	0.14907	N	-1.09240458688327	0.06782	0.3132052	-1.10455733871537	0.07613	0.3709792	0.999935666871562	0.46732	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.17	-1.75	0.07598	0.335000	0.19546	-0.257000	0.10458	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.3727:0.1334:0.2344:0.2594	0.351	0.00325	279	0.89001	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1684.98	34	chr9	127720334	.	A	T	1684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.806;DP=846;ExcessHet=0.0000;FS=0.631;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=2.25;SOR=0.625	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1699,0,1749	20	0	1	0
chr9	127740267	127740267	C	T	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon8:c.G1717A:p.E573K	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.968	D	0.000	D	1.000	D	2.265	M	2.27	T	-0.738	T	0.210	T	0.838	5.144	32	5.8	2.733	7.749	19.030	0.316	0.0479629383111	7.7e-05	.	8.274e-05	0	0	0	0	4.517e-05	0	0.0004	7.12e-05	11	154602	rs144265648	3.216e-05	3.215e-05	1.362e-05	5.089e-05	0.0004	2.478e-05	2.221e-05	0.0003	0.0003	0	0	0	0	0	0.0002	6.297e-06	1.656e-05	0.0004	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	6.543e-05	0	0	0	0	0	0	0.0004	0.004	0.72154	D	0.005	0.72224	D	0.993	0.90584	D	0.715	0.71741	P	0.000000	0.84330	D	0.043738	1	0.81001	D	2.795	0.81503	M	2.18	0.31731	T	-3.2	0.68412	D	0.743	0.84194	-0.7383	0.58540	T	0.210	0.56959	T	10	0.5904273	0.66348	D	0.047963	0.63161	D	0.316	0.63799	.	.	0.911683614956	0.91080	0.33571968376306627	0.33484	1.30456342951	0.83096	0.740375161171	0.73028	T	0.47192	0.80441	T	-0.0348867	0.46703	T	0.0340775	0.72543	D	0.766056478023529	0.44205	D	0.988501	0.96633	D	0.74437475	0.80544	0.58879983	0.76146	0.74437475	0.80545	0.58879983	0.76147	-14.077	0.93543	D	.	.	0.263	0.51968	B	.;.;.;.;.;.	.;.;.;.;.;.	5.464792	0.91203	32	0.99899698162587469	0.97199	0.99567	0.97521	D	AEFDGBIJ	0.968034	0.99051	D	0.803298215624598	0.86311	8.844998	0.809853739175952	0.90471	10.42202	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.8	5.8	0.92081	7.835000	0.84986	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.030	0.92933	289	0.88525	.;.;.;.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1111.98	35	chr9	127740267	.	C	T	1111.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=812;ExcessHet=0.0000;FS=3.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=-5.000e-01;SOR=1.094	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1126,0,1398	20	0	1	0
chr9	127741889	127741889	C	T	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon7:c.G1513A:p.A505T	.	.	426	1095	1	0	0	1	0.000456413	.	.	3317862	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.861	P	0.313	B	0.000	D	1.000	D	1.59	L	1.59	T	-1.083	T	0.075	T	0.473	3.815	19.37	4.98	2.808	1.362	14.675	0.115	0.0111207979664	.	.	0.0004	0	0	0	0	0.0007	0	0	0.0003169	49	154602	rs145622720	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0001	0.0001	0.0100	0	0	0.0023	0.0001	0.0008	0	0.0003	0.0003	0.0004	0.0003	0.0001	0.0002	0.0002	3.761e-05	2.575e-05	9.644e-05	0	0.0001	0.0098	0	0	0	8.818e-05	0.0010	0	0.041	0.47745	D	0.184	0.31125	T	0.119	0.47410	B	0.041	0.41496	B	0.000000	0.84330	D	0.045481	0.999997	0.81001	D	1.565	0.39561	L	1.59	0.30669	T	-2.26	0.53096	N	0.473	0.51137	-1.0832	0.06739	T	0.075	0.30086	T	10	0.011278659	0.00247	T	0.011121	0.28415	T	0.115	0.32236	0.27	0.21893	0.761076953471	0.75890	0.29297780800550444	0.29210	0.559626915364	0.52497	0.582536101341	0.50442	T	0.211533	0.57232	T	-0.279252	0.10748	T	-0.379224	0.35814	T	0.0465358572572639	0.04881	T	0.889211	0.62362	D	0.3475117	0.56873	0.24440981	0.49906	0.3475117	0.56873	0.24440981	0.49905	-8.32	0.65300	D	.	.	0.075	0.07365	B	.;.;.;.;.;.	.;.;.;.;.;.	4.191569	0.63182	24.5	0.99761494504646386	0.85091	0.74467	0.36430	D	ALL	0.417514	0.48553	N	-0.0254291017855005	0.40707	2.422042	0.0259818213624671	0.40924	2.450264	0.99999999997584	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.64067	0.45733	0	0.735409	0.98432	0	.	.	5.93	4.98	0.65679	1.408000	0.34277	4.818000	0.45095	0.596000	0.33519	0.292000	0.25252	1.000000	0.68203	0.909000	0.44452	0.1459:0.8541:0.0:0.0	14.675	0.68583	290	0.88477	.;.;.;.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1077.98	46	chr9	127741889	.	C	T	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.214e+00;DP=905;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.39;ReadPosRankSum=0.423;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,29:62:99:0|1:127741889_C_T:1092,0,1298:127741889	20	0	1	0
chr9	127749458	127749458	G	A	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon3:c.C418T:p.R140C	.	.	440	1076	6	0	0	6	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.205	M	-2.45	D	0.758	D	0.813	D	0.771	4.147	21.4	5.67	2.686	3.509	18.749	0.663	0.165686358812	7.7e-05	0.000599042	0.0005	0	8.688e-05	0.0015	0.0005	0.0004	0.0011	0.0010	0.0004592	71	154602	rs143231219	0.0005	0.0005	0.0005	0.0006	0.0015	0.0005	0.0005	0.0012	0.0011	5.975e-05	0.0002	3.826e-05	0.0015	0.0006	0.0003	0.0005	0.0005	0.0010	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0003	0.0003	7.214e-05	0	0.0004	0	0.0008	0.0008	0	0.0005	0.0005	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.27	0.64531	M	-2.45	0.88847	D	-5.35	0.90852	D	0.816	0.85238	0.758	0.93899	D	0.813	0.93694	D	10	0.25321773	0.42686	T	0.165686	0.84449	D	0.663	0.87430	.	.	0.983015080095	0.98283	0.6167787165247153	0.61609	1.44290572599	0.86007	0.824414730072	0.85706	D	0.897578	0.97966	D	-0.022067	0.48559	T	0.145085	0.79872	D	0.210032221588181	0.20955	T	0.970003	0.89317	D	0.40421268	0.61023	0.34372908	0.60080	0.40421268	0.61023	0.34372908	0.60079	-9.635	0.78628	D	.	.	0.517	0.72360	A	.;.;.;.;.;.	.;.;.;.;.;.	5.107732	0.85376	28.6	0.99941000744904995	0.99797	0.86738	0.46083	D	AEFBCI	0.802888	0.72818	D	0.721754069499678	0.81057	7.43431	0.699536704429389	0.82342	7.743698	0.999999999530664	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	3.600000	0.53805	8.555000	0.77544	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.212000	0.22240	0.0:0.0:1.0:0.0	18.749	0.91769	295	0.88218	.;.;.;SH2 domain|SH2 domain|SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2030.98	33	chr9	127749458	.	G	A	2030.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.532e+00;DP=852;ExcessHet=0.0000;FS=0.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.713;SOR=0.787	GT:AD:DP:GQ:PL	0/1:69,83:152:99:2045,0,1681	20	0	1	0
chr9	128722697	128722697	C	T	exonic	ZDHHC12	.	stopgain	ZDHHC12:NM_001318015:exon2:c.G143A:p.W48X,	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.512	11.00	-4.93	-1.186	-1.437	6.317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77e-06	3.42e-06	1.47e-06	6.191e-06	0.0006	1.1e-06	8e-07	0.0002	8.085e-05	0	0	0	0	0	0.0006	1.922e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.41492	0.01844	T	-0.83378	0.01197	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133357	0.05285	1.782	0.87870536221081008	0.17543	0.02336	0.06681	N	AEFDGBCI	0.018634	0.00580	N	-0.859124744958578	0.11826	0.5728891	-1.09176178057363	0.07862	0.3841401	0.999999874856822	0.74766	0.608966	0.35542	0	0.685571	0.66316	0	0.769059	0.98459	0	0.664235	0.64389	0	.	.	3.87	-4.93	0.02839	-0.881000	0.04287	.	.	0.596000	0.33519	0.000000	0.06391	.	.	0.011000	0.09372	0.6226:0.1546:0.2228:0.0	6.317	0.20406	0	0.99858	.	.	.	.	.	.	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	0.02381	590.98	35	chr9	128722697	.	C	T	590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=827;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.35;ReadPosRankSum=0.331;SOR=0.677	GT:AD:DP:GQ:PL	0/1:65,28:93:99:605,0,1731	20	0	1	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,80,0:80:99:2397,240,0,2397,240,2397	0	17	3	0
chr9	134909977	134909977	A	G	exonic	FCN1	.	nonsynonymous SNV	FCN1:NM_002003:exon9:c.T802C:p.S268P,	.	.	428	1071	21	2	0	25	0.0115367	.	.	389798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.852	P	0.616	P	.	.	1.000	N	2.745	M	-1.09	T	-0.431	T	0.480	T	0.373	1.721	11.71	-1.82	-0.366	-0.892	7.167	0.630	0.32825584778	0.0018	0.000798722	0.0010	0.0004	8.637e-05	0	0.0002	0.0011	0	0.0025	0.0011125	172	154602	rs150625869	0.0019	0.0019	0.0019	0.0019	0.0050	0.0019	0.0018	0.0036	0.0031	0.0001	0.0003	0.0007	0	0	0.0050	0.0021	0.0020	0.0034	0.0010	0.0010	0.0010	0.0009	0.0021	0.0008	0.0008	0.0015	0.0014	0.0003	0	0.0002	0.0003	0	9.427e-05	0	0.0017	0.0009	0.0021	0.061	0.37118	T	0.092	0.39954	T	0.852	0.47012	P	0.616	0.51268	P	.	.	.	.	1	0.08975	N	2.04	0.55661	M	-1.09	0.77206	T	-2.65	0.56787	D	0.214	0.23884	-0.4313	0.71024	T	0.480	0.80109	T	9	0.020994157	0.00494	T	0.328256	0.91675	D	0.630	0.85769	.	.	0.870198666139	0.86894	0.6026988941556363	0.60200	0.293018793163	0.31727	0.30990922451	0.11894	T	0.132692	0.46292	T	-0.393379	0.02558	T	-0.337709	0.40605	T	0.05986447650217	0.07147	T	0.89971	0.64861	D	0.68773806	0.77389	0.4887536	0.70417	0.68773806	0.77390	0.4887536	0.70418	-9.568	0.71282	D	.	.	0.327	0.55032	B	.	.	-0.615847	0.01529	0.098	0.98608055811643902	0.43598	0.02596	0.07160	N	AEFDGBI	0.204139	0.33060	N	-0.485712715950183	0.22548	1.204767	-0.783951326075503	0.14888	0.7802778	0.999931327546478	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.2	-1.82	0.07433	-1.106000	0.03430	-13.917000	0.00431	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.23:0.6251:0.0:0.1449	7.167	0.24870	726	0.54788	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1434.98	41	chr9	134909977	.	A	G	1434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=952;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.584;SOR=0.604	GT:AD:DP:GQ:PL	0/1:84,62:146:99:1449,0,2080	20	0	1	0
chr9	136198718	136198718	C	T	exonic	LHX3	.	nonsynonymous SNV	LHX3:NM_001363746:exon5:c.G676A:p.G226S	Pituitary hormone deficiency, combined, 3, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.003	B	0.002	B	0.045	N	0.999	N	0.805	L	-2.35	D	-0.765	T	0.406	T	0.026	1.697	11.63	0.913	0.059	0.683	6.268	0.151	0.504349315574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	0	2.755e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.161	0.35082	T	0.003	0.11197	B	0.002	0.06944	B	0.044952	0.23586	N	0.449261	0.999361	0.21303	N	-0.44	0.02835	N	-2.51	0.89293	D	-1.64	0.39314	N	0.072	0.05799	-0.7653	0.57115	T	0.406	0.75550	T	10	0.13513145	0.25715	T	0.504349	0.95202	D	0.151	0.39764	0.212	0.13066	0.715887026869	0.71339	0.1481958030679276	0.14741	0.81697506507	0.66986	0.430781424046	0.29316	T	0.250895	0.62107	T	-0.192047	0.21958	T	-0.513638	0.20942	T	0.197467908263206	0.20276	T	0.828317	0.50357	T	0.07862805	0.17917	0.11174655	0.26957	0.07862805	0.17916	0.11174655	0.26956	-4.31	0.28316	T	.	.	0.057	0.01387	B	.;.;.	.;.;.	1.784164	0.22680	15.72	0.97625591758327934	0.34989	0.08266	0.14218	N	AEFDBHCI	0.051707	0.09160	N	-0.935175384088763	0.10028	0.4772835	-0.863525174751714	0.12962	0.6698364	0.999879051762385	0.44625	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	3.46	0.913	0.18482	0.563000	0.23250	0.181000	0.15632	-0.320000	0.05874	0.014000	0.18986	0.879000	0.27682	0.961000	0.51904	0.0:0.2567:0.0:0.7433	6.268	0.20150	735	0.53711	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1213.98	37	chr9	136198718	.	C	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.960e-01;DP=970;ExcessHet=0.0000;FS=2.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.451;SOR=0.708	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1228,0,885	20	0	1	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/1:23,16,0:39:99:603,0,908,672,956,1628	13	1	6	0
chr9	136925852	136925852	G	A	exonic	TRAF2	.	nonsynonymous SNV	TRAF2:NM_021138:exon11:c.G1457A:p.R486Q,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.956	D	0.000	D	1.000	D	2.3	M	0.95	T	-0.572	T	0.240	T	0.169	4.465	23.8	3.6	1.105	6.313	13.555	0.230	0.0354330416766	.	.	8.246e-06	0	0	0	0	0	0	6.058e-05	3.23e-05	5	154602	rs748138586	2.668e-05	2.668e-05	2.314e-05	3.025e-05	0.0003	1.997e-05	1.754e-05	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	1.873e-05	0.0003	2.518e-05	1.656e-05	4.637e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.009	0.57480	D	0.011	0.64786	D	0.998	0.73220	D	0.86	0.61233	P	0.000000	0.84330	D	0.055361	0.999841	0.50806	D	2.35	0.67516	M	0.95	0.43279	T	-2.86	0.60188	D	0.288	0.32591	-0.5723	0.65923	T	0.240	0.60762	T	10	0.50343233	0.61680	D	0.035433	0.56343	D	0.230	0.53062	0.637	0.77361	0.517039506269	0.51347	0.6860597718530687	0.68545	1.50659773284	0.87146	0.572624206543	0.49049	T	0.437048	0.78321	T	-0.276174	0.11077	T	-0.452953	0.27370	T	0.869189500808716	0.51913	D	0.976002	0.91601	D	0.6103529	0.73247	0.3995576	0.64515	0.6103529	0.73248	0.3995576	0.64515	-9.969	0.73726	D	.	.	0.119	0.24498	B	.	.	5.494840	0.91521	32	0.9993311768902341	0.99488	0.88729	0.48797	D	AEFDGBHCI	0.457366	0.50884	N	0.565608535391141	0.71036	5.590463	0.487661781098968	0.67173	5.048469	0.999999903415875	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.52	3.6	0.40374	5.635000	0.67514	6.587000	0.56014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1573:0.8427:0.0	13.555	0.61215	845	0.36510	MATH/TRAF domain|TNF receptor-associated factor 2, MATH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	33	chr9	136925852	.	G	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=782;ExcessHet=0.0000;FS=0.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.66;ReadPosRankSum=-4.640e-01;SOR=0.860	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1175,0,872	20	0	1	0
chr9	137169519	137169519	A	C	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.T425G:p.L142R,	.	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	0.965	D	4.415	H	3.59	T	-0.964	T	0.083	T	0.733	3.141	16.50	4.14	1.500	3.517	6.268	0.269	0.453145995777	.	0.000998403	0.0052	0.0035	0.0049	0	0	0.0013	0	0.0072	0.0005498	85	154602	rs532802522	0.0005	0.0005	0.0003	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	3.438e-05	0.0003	0.0003	2.931e-05	0	0.0044	7.631e-05	0.0007	0.0062	0.0005	0.0005	0.0003	0.0008	0.0056	0.0004	0.0004	0.0039	0.0034	4.813e-05	0	0.0027	0.0009	0	0	0	0.0001	0	0.0056	0.019	0.50132	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002186	0.37053	N	0.000000	0.96542	0.38467	D	4.255	0.98070	H	3.59	0.04544	T	-4.28	0.76334	D	0.714	0.71676	-0.9643	0.38350	T	0.083	0.32556	T	10	0.07249701	0.10829	T	0.453146	0.94379	D	0.269	0.58381	0.907	0.98068	0.50539470866	0.50177	0.5839449485821246	0.58323	1.83200647507	0.92061	0.91601729393	0.98005	D	0.360377	0.72663	T	-0.288284	0.09809	T	-0.18329	0.56217	T	0.116531804214541	0.14087	T	0.558444	0.19458	T	0.60605323	0.73016	0.6238569	0.78079	0.60605323	0.73017	0.6238569	0.78080	-12.749	0.88302	D	.	.	0.752	0.75157	P	.	.	4.518965	0.70831	25.6	0.99668429547880644	0.78394	0.52538	0.29155	D	ALL	0.474485	0.51873	N	0.677889401193372	0.78182	6.820648	0.49112423817239	0.67399	5.079024	0.999999999999979	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.14	4.14	0.47821	2.444000	0.44549	7.718000	0.67175	0.626000	0.51810	0.934000	0.32416	1.000000	0.68203	0.519000	0.29452	0.8827:0.0:0.1173:0.0	6.268	0.20148	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	0.04762	1261.11	33	chr9	137169519	.	A	C	1261.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.129e+00;DP=834;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=1.20;SOR=0.656	GT:AD:DP:GQ:PL	0/1:44,27:71:99:562,0,1159	19	0	2	0
chr9	137244284	137244285	AG	-	exonic	FAM166A	.	frameshift deletion	FAM166A:NM_001001710:exon6:c.751_752del:p.L251Vfs*2,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00199681	0.0049	0.0017	0.0028	0	0.0046	0.0075	0.0056	0.0008	0.0009221	24	26028	rs570890546	0.0055	0.0055	0.0056	0.0054	0.0068	0.0054	0.0054	0.0063	0.0062	0.0011	0.0031	0.0034	0	0.0044	0.0068	0.0064	0.0055	0.0007	0.0038	0.0038	0.0043	0.0032	0.0066	0.0035	0.0034	0.0061	0.0059	0.0012	0	0.0018	0.0032	0	0.0025	0.0102	0.0066	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1880.94	37	chr9	137244283	.	CAG	C	1880.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.914e+00;DP=840;ExcessHet=0.0000;FS=1.629;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.26;ReadPosRankSum=1.56;SOR=0.486	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1895,0,2079	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,15:41:99:1|0:138023708_C_A:512,591,1682,0,1092,1046:138023708	7	0	2	0
chr10	17071457	17071457	C	T	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon19:c.G2594A:p.S865N,	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	1	1495	25	1	0	27	0.00894929	.	.	259935	Imerslund-Grasbeck_syndrome|Imerslund-Grasbeck_syndrome_type_1|not_specified|not_provided	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.007	B	0.006	B	0.140	N	1.000	N	0.155	N	2.24	T	-0.983	T	0.013	T	0.006	0.813	8.271	-4.35	-0.282	-0.892	11.884	0.062	.	0.0085	0.00319489	0.0075	0.0017	0.0018	0	0.0058	0.0113	0.0022	0.0042	0.0075225	1163	154602	rs138083522	0.0097	0.0097	0.0096	0.0098	0.0112	0.0096	0.0095	0.0110	0.0109	0.0016	0.0033	0.0091	0	0.0062	0.0066	0.0112	0.0086	0.0051	0.0073	0.0073	0.0076	0.0071	0.0123	0.0070	0.0068	0.0116	0.0113	0.0021	0.0296	0.0035	0.0072	0	0.0052	0.0034	0.0123	0.0085	0.0033	0.535	0.06913	T	0.579	0.08535	T	0.007	0.14184	B	0.006	0.12133	B	0.140464	0.18308	N	0.458452	1	0.08975	N	0.695	0.17993	N	2.24	0.17923	T	0.38	0.03579	N	0.659	0.66873	-0.9833	0.34234	T	0.013	0.05129	T	10	0.0062994957	0.00142	T	.	.	.	0.062	0.17934	.	.	0.226586394389	0.22295	0.20347358920778352	0.20264	0.076962351002	0.08643	0.32478749752	0.14146	T	0.025731	0.19180	T	-0.74171	0.00020	T	-0.827161	0.01313	T	0.00110475637476235	0.00011	T	0.50225	0.15758	T	0.05099775	0.09301	0.06838942	0.14277	0.05099775	0.09300	0.06838942	0.14277	-3.209	0.12591	T	0.1740204019745255	0.22077	0.074	0.05060	B	.	.	-0.325975	0.02506	0.295	0.86535495772032101	0.16602	0.03089	0.08012	N	AEFBI	0.080154	0.16202	N	-1.07499693678541	0.07107	0.3291508	-1.05645910652824	0.08572	0.4221397	0.990266353850165	0.32094	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.47	-4.35	0.03402	-0.871000	0.04331	-2.571000	0.03595	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0:0.2171:0.6099:0.173	11.884	0.51869	864	0.32732	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2228.98	33	chr10	17071457	.	C	T	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.632e+00;DP=853;ExcessHet=0.0000;FS=0.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-9.280e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:73,89:162:99:2243,0,1886	20	0	1	0
chr10	23119314	23119314	A	C	exonic	MSRB2	.	nonsynonymous SNV	MSRB2:NM_012228:exon4:c.A307C:p.K103Q,	.	.	428	1071	23	0	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	1.000	D	2.84	M	-1.87	D	0.634	D	0.760	D	0.583	2.779	15.25	4.43	1.061	5.728	11.905	0.806	.	0.0003	0.00379393	0.0035	0.0001	0.0005	0	0.0002	0.0009	0.0022	0.0213	0.002943	455	154602	rs199642000	0.0018	0.0018	0.0011	0.0024	0.0196	0.0017	0.0017	0.0188	0.0185	8.963e-05	0.0002	0.0065	0	0.0002	0.0064	0.0004	0.0025	0.0196	0.0010	0.0010	0.0009	0.0012	0.0197	0.0009	0.0008	0.0165	0.0153	7.223e-05	0	6.541e-05	0.0040	0.0004	9.425e-05	0.0034	0.0005	0.0009	0.0197	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999881	0.50402	D	2.7	0.79018	M	-1.87	0.84415	D	-3.97	0.73684	D	0.315	0.35514	0.634	0.92344	D	0.760	0.91826	D	10	0.013112485	0.00279	T	.	.	.	0.806	0.93699	.	.	0.896146396389	0.89511	0.8778569973366543	0.87752	0.763234276875	0.64374	0.52319341898	0.42076	T	0.833005	0.96032	D	-0.1771	0.24167	T	-0.0115733	0.69581	D	0.0688186085758067	0.08485	T	0.987201	0.95630	D	0.84709096	0.87121	0.6830389	0.81369	0.84709096	0.87123	0.6830389	0.81370	-6.855	0.52967	T	.	.	0.864	0.80540	P	.	.	3.902745	0.56863	23.8	0.99530507365991661	0.69839	0.90500	0.51728	D	AEFBI	0.749189	0.69070	D	0.672426743593757	0.77827	6.75008	0.594542299440287	0.74546	6.155727	0.749345502362472	0.23334	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	4.43	0.52967	6.001000	0.70352	8.991000	0.78510	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.8409:0.1591:0.0:0.0	11.905	0.51990	864	0.32732	Peptide methionine sulphoxide reductase MrsB|Peptide methionine sulphoxide reductase MrsB|Peptide methionine sulphoxide reductase MrsB	.	.	.	.	.	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	0.04762	3080.11	37	chr10	23119314	.	A	C	3080.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.660e-01;DP=1223;ExcessHet=0.1072;FS=0.997;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.750e-01;SOR=0.792	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1445,0,1487	19	0	2	0
chr10	23289946	23289946	A	G	exonic	C10orf67	.	nonsynonymous SNV	C10orf67:NM_001365862:exon7:c.T866C:p.I289T	.	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	0.306	N	1.000	N	.	.	.	.	-1.049	T	0.058	T	0.057	1.007	9.111	4.8	2.274	0.509	4.167	0.042	.	.	0.00299521	0.0018	0.0011	0.0034	0	0	0.0011	0	0.0027	0.0004657	72	154602	rs186852463	0.0017	0.0015	0.0014	0.0019	0.0066	0.0016	0.0015	0.0047	0.0040	0.0001	0.0017	0	3.115e-05	8.354e-05	0.0066	0.0019	0.0014	0.0032	0.0015	0.0015	0.0015	0.0015	0.0048	0.0013	0.0013	0.0037	0.0034	0.0003	0	0.0046	0	0	0	0.0102	0.0017	0.0024	0.0048	0.166	0.23183	T	0.077	0.42436	T	.	.	.	.	.	.	0.305703	0.14520	N	0.654075	.	.	.	.	.	.	.	.	.	-0.29	0.11728	N	.	.	-1.0487	0.14761	T	0.058	0.24465	T	6	0.004864812	0.00104	T	.	.	.	0.042	0.11227	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	0.012736	0.11141	T	-0.564398	0.00239	T	-0.587173	0.13912	T	0.0266930667140596	0.01501	T	0.526147	0.17328	T	0.06981948	0.15328	0.14953367	0.35303	0.06981948	0.15328	0.14953367	0.35302	-3.953	0.23098	T	.	.	0.707	0.73264	P	.;.	.;.	2.780716	0.36527	20.3	0.96159579152814789	0.28893	0.06859	0.12885	N	AEFI	0.054601	0.09943	N	-0.170364738195195	0.34372	1.961108	-0.191219741873578	0.31858	1.806917	2.08634886244057E-4	0.05948	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.94	4.8	0.61157	0.502000	0.22302	2.937000	0.35646	0.756000	0.94297	0.008000	0.17931	0.006000	0.19429	0.989000	0.64315	0.6813:0.1197:0.0702:0.1287	4.167	0.09776	789	0.46346	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	758.98	33	chr10	23289946	.	A	G	758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.852;SOR=0.650	GT:AD:DP:GQ:PL	0/1:43,30:73:99:773,0,1050	20	0	1	0
chr10	45463683	45463683	G	A	exonic	MARCHF8	.	nonsynonymous SNV	MARCHF8:NM_001282866:exon5:c.C556T:p.L186F,	.	.	419	1090	13	0	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	D	.	.	.	.	-0.768	T	0.161	T	.	1.307	10.28	3.63	0.668	2.263	8.696	0.088	0.0530832634833	.	0.000798722	0.0025	0	0	0	0	0.0022	0.0097	0.0037	0.0003881	60	154602	rs147126303	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0030	0.0029	6.33e-05	0.0010	0.0072	0	2.071e-05	0.0023	0.0003	0.0011	0.0033	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0008	0.0066	0	0	0.0034	0.0003	0.0019	0.0019	.	.	.	0.212	0.26549	T	.	.	.	.	.	.	.	.	.	.	0.56145	0.32216	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	0.0042395294	0.00085	T	0.053083	0.65328	D	.	.	.	.	0.247322355667	0.24350	0.0875715780501058	0.08690	.	.	0.26434519887	0.05420	T	.	.	.	-0.570796	0.00219	T	-0.593842	0.13335	T	0.0208525229245424	0.00786	T	0.538146	0.18126	T	.	.	.	.	.	.	.	.	-4.486	0.30705	T	.	.	0.066	0.02228	B	.	.	1.418918	0.18356	13.69	0.97589054991226365	0.34780	0.40398	0.26428	N	AEFDGBCIJ	0.164753	0.29117	N	-0.345745499767329	0.27429	1.505	-0.385681853882267	0.25422	1.398005	0.999999341389703	0.74766	0.554377	0.28877	0	0.435331	0.06439	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.51	3.63	0.40741	2.204000	0.42397	6.588000	0.56017	-0.127000	0.13314	0.164000	0.23853	1.000000	0.68203	0.980000	0.58198	0.0799:0.0:0.7695:0.1506	8.696	0.33457	824	0.40336	.	.	.	.	.	.	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	0.02381	1904.98	33	chr10	45463683	.	G	A	1904.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.026e+00;DP=983;ExcessHet=0.0000;FS=3.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=-1.849e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1919,0,2210	20	0	1	0
chr10	46313249	46313249	C	T	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.C1343T:p.T448I	.	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0213949736255	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs190568406	0.0004	0.0008	0.0004	0.0004	0.0014	0.0004	0.0004	0.0007	0.0005	0.0002	0.0002	0.0005	0	0.0002	0.0014	0.0005	0.0004	5.049e-05	0.0008	0.0008	0.0007	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0003	0	0.0004	0.0012	0	9.411e-05	0	0.0013	0.0009	0	.	.	.	0.042	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.545	0.39105	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.036904305	0.02014	T	0.021395	0.44162	T	.	.	.	.	0.0611884634855	0.05136	0.30795949542158546	0.30708	.	.	.	.	.	0.012131	0.10712	T	-0.545759	0.00309	T	-0.602273	0.12622	T	.	.	.	0.339966	0.07366	T	0.024932707	0.01376	0.056761313	0.10200	0.024932707	0.01376	0.056761313	0.10200	-3.88	0.22002	T	.	.	0.137	0.29860	B	.;.	.;.	0.313315	0.06882	3.418	0.99151443014351226	0.53820	0.00693	0.02956	N	AEFDBI	0.027687	0.02306	N	.	.	.	.	.	.	6.58609944429024E-4	0.07551	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.27	-2.4	0.06204	-0.271000	0.08603	-12.722000	0.00505	-1.815000	0.00607	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1661:0.2941:0.3261:0.2138	1.138	0.01650	906	0.23090	.;.	.	.	.	.	.	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	0.02381	1745.98	33	chr10	46313249	.	C	T	1745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.38;MQRankSum=-2.455e+00;QD=19.84;ReadPosRankSum=-1.800e-01;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,45:88:99:0|1:46313249_C_T:1760,0,1670:46313249	20	0	1	0
chr10	46313254	46313254	T	C	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.T1348C:p.C450R	.	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017256744776	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs187031765	0.0004	0.0007	0.0004	0.0004	0.0011	0.0004	0.0004	0.0005	0.0004	0.0001	0.0003	0.0006	0	0.0002	0.0011	0.0004	0.0004	5.049e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0004	0.0012	0	9.411e-05	0	0.0013	0.0009	0	.	.	.	0.078	0.54934	T	.	.	.	.	.	.	.	.	.	.	0.999984	0.18612	N	1.935	0.51832	L	.	.	.	.	.	.	0.397	0.43803	.	.	.	.	.	.	.	0.12304172	0.23351	T	0.017257	0.38885	T	.	.	.	.	0.132336055621	0.12781	0.4710057341761243	0.47019	.	.	.	.	.	0.073764	0.34775	T	-0.342322	0.05228	T	-0.31005	0.43653	T	.	.	.	0.236176	0.03527	T	0.20464373	0.42580	0.34049287	0.59801	0.20464373	0.42580	0.34049287	0.59800	-3.025	0.10453	T	.	.	0.238	0.47161	B	.;.	.;.	1.543362	0.19791	14.44	0.91588314031009033	0.20869	0.03022	0.07900	N	AEFDBI	0.051242	0.09035	N	.	.	.	.	.	.	0.00433274777723822	0.10505	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.27	2.12	0.26372	1.228000	0.32190	0.796000	0.21614	-1.478000	0.01061	0.206000	0.24378	0.001000	0.17328	0.000000	0.00833	0.0:0.0:0.2438:0.7562	6.679	0.22302	906	0.23090	.;.	.	.	.	.	.	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	0.02381	1787.98	33	chr10	46313254	.	T	C	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.441e+00;DP=801;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.39;MQRankSum=-2.427e+00;QD=20.09;ReadPosRankSum=-4.900e-02;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,46:89:99:0|1:46313249_C_T:1802,0,1667:46313249	20	0	1	0
chr10	46313269	46313269	G	C	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.G1363C:p.A455P	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00639025494625	.	0.000199681	0.0001	0	0	0	0	0.0005	0	0	0.0003458	9	26028	rs192798365	0.0004	0.0008	0.0004	0.0004	0.0009	0.0004	0.0003	0.0004	0.0004	0.0001	0.0003	0.0006	0	0.0002	0.0009	0.0004	0.0004	3.787e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0005	0.0012	0	9.416e-05	0	0.0013	0.0009	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.79	0.00298	N	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.01405102	0.00296	T	0.00639	0.16812	T	.	.	.	.	0.110078149338	0.10416	0.19140578382896617	0.19058	.	.	.	.	.	0.001843	0.01261	T	-0.568728	0.00225	T	-0.635266	0.10018	T	.	.	.	0.316668	0.06305	T	0.073680714	0.16482	0.103878215	0.24936	0.073680714	0.16482	0.103878215	0.24935	-2.482	0.05660	T	.	.	0.051	0.00195	B	.;.	.;.	-0.080311	0.03761	0.784	0.057402479188630604	0.00014	0.00027	0.00265	N	AEFDGBI	0.011695	0.00109	N	.	.	.	.	.	.	0.00868536669359893	0.11722	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.4	0.408	0.15595	0.612000	0.23979	0.578000	0.19676	-0.174000	0.10959	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.4064:0.4497:0.1439	4.619	0.11829	906	0.23090	.;.	.	.	.	.	.	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	0.02381	1714.98	33	chr10	46313269	.	G	C	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=796;ExcessHet=0.0000;FS=2.909;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.35;MQRankSum=-2.340e+00;QD=20.42;ReadPosRankSum=0.354;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,45:84:99:0|1:46313269_G_C:1729,0,1500:46313269	20	0	1	0
chr10	46313279	46313279	A	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.A1373G:p.H458R	.	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0267536234625	.	0.000199681	0.0001	0	0	0	0	0.0005	0	0	7.76e-05	12	154602	rs182808780	0.0004	0.0008	0.0004	0.0004	0.0011	0.0004	0.0004	0.0005	0.0004	0.0001	0.0003	0.0006	0	0.0002	0.0011	0.0005	0.0004	5.049e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0004	0.0012	0	9.411e-05	0	0.0013	0.0009	0	.	.	.	0.347	0.28210	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.014372289	0.00302	T	0.026754	0.49639	D	.	.	.	.	0.0846915920261	0.08053	0.2070598144606493	0.20621	.	.	.	.	.	0.013024	0.11342	T	-0.649029	0.00073	T	-0.750613	0.03462	T	.	.	.	0.225777	0.02969	T	0.02699512	0.01831	0.07338199	0.15941	0.02699512	0.01831	0.07338199	0.15940	-3.341	0.14272	T	.	.	0.073	0.04806	B	.;.	.;.	-0.687725	0.01349	0.075	0.28021838743516009	0.01419	0.00541	0.02492	N	AEFDGBI	0.026721	0.02056	N	.	.	.	.	.	.	0.0641292988553547	0.15319	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.96	-3.76	0.04074	-1.510000	0.02366	-12.852000	0.00496	-2.511000	0.00260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5964:0.0:0.4036:0.0	8.525	0.32458	906	0.23090	.;.	.	.	.	.	.	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	0.02381	1625.98	33	chr10	46313279	.	A	G	1625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.230e-01;DP=794;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.34;MQRankSum=-2.485e+00;QD=19.59;ReadPosRankSum=1.66;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,42:83:99:0|1:46313269_G_C:1640,0,1550:46313269	20	0	1	0
chr10	46313298	46313298	T	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001278688:exon16:c.T1392G:p.C464W	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0047398973567	.	0.000199681	0.0001	0	0	0	0	0.0005	0	0	0.0001229	19	154602	rs79756825	0.0006	0.0009	0.0006	0.0006	0.0011	0.0005	0.0005	0.0006	0.0006	0.0002	0.0003	0.0007	0	0.0002	0.0011	0.0006	0.0006	5.049e-05	0.0007	0.0007	0.0007	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0004	0.0012	0	9.413e-05	0	0.0013	0.0009	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.275	0.00739	N	.	.	.	.	.	.	0.207	0.28732	.	.	.	.	.	.	.	0.017588705	0.00376	T	0.00474	0.11816	T	.	.	.	.	0.0611884634855	0.05136	0.47825112985140805	0.47745	.	.	.	.	.	0.003779	0.03191	T	-0.500165	0.00570	T	-0.53678	0.18615	T	.	.	.	0.277772	0.04827	T	0.21017422	0.43306	0.2727908	0.53193	0.21017422	0.43306	0.2727908	0.53192	-5.071	0.37600	T	.	.	0.070	0.03443	B	.;.	.;.	0.080844	0.04871	1.459	0.18509065259095711	0.00585	0.00031	0.00285	N	AEFDBI	0.020480	0.00813	N	.	.	.	.	.	.	0.0020565962379748	0.09120	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.76	-0.527	0.11314	0.008000	0.13095	-1.006000	0.06630	-0.681000	0.04224	0.010000	0.18352	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.3385:0.6615	8.723	0.33615	906	0.23090	.;.	.	.	.	.	.	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	0.02381	1095.98	33	chr10	46313298	.	T	G	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=791;ExcessHet=0.0000;FS=1.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.30;MQRankSum=-2.292e+00;QD=15.01;ReadPosRankSum=0.820;SOR=0.430	GT:AD:DP:GQ:PL	0/1:33,40:73:99:1110,0,907	20	0	1	0
chr10	46549598	46549598	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G1139A:p.R380Q	.	.	396	1102	23	1	0	25	0.0112158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.697	P	0.002	N	0.999	D	2.36	M	1.69	T	-0.942	T	0.113	T	0.605	3.805	19.32	3.74	1.089	3.056	10.96	0.192	0.0142984692189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150696937	0.0034	0.0068	0.0035	0.0034	0.0095	0.0033	0.0033	0.0075	0.0068	0.0008	0.0026	0.0079	0	0.0009	0.0095	0.0038	0.0038	0.0015	0.0026	0.0049	0.0029	0.0024	0.0038	0.0024	0.0023	0.0034	0.0032	0.0010	0	0.0030	0.0082	0.0004	0.0008	0.0105	0.0038	0.0029	0.0023	0.016	0.51853	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.9	0.72932	D	0.212	0.23632	.	.	.	.	.	.	.	0.03615442	0.01899	T	.	.	.	.	.	.	.	.	.	0.5480051513584038	0.54726	.	.	.	.	.	0.064308	0.32400	T	.	.	.	.	.	.	.	.	.	0.832417	0.50060	T	.	.	.	.	.	.	.	.	-5.983	0.46138	T	.	.	0.079	0.08609	B	.;.	.;.	3.526453	0.49461	22.8	.	.	.	.	.	.	0.226162	0.35015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414000	0.44281	0.153000	0.15315	0.549000	0.26987	0.991000	0.37257	0.006000	0.19429	0.975000	0.56047	.	.	.	970	0.06235	G protein-regulated inducer of neurite outgrowth, C-terminal;G protein-regulated inducer of neurite outgrowth, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1025.98	266	chr10	46549598	.	C	T	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=6433;ExcessHet=0.0000;FS=2.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=0.018;SOR=0.875	GT:AD:DP:GQ:PL	0/1:221,57:280:99:1040,0,5643	20	0	1	0
chr10	47762985	47762985	G	A	exonic	LOC102724488	.	nonsynonymous SNV	LOC102724488:NM_001370182:exon1:c.C20T:p.P7L,	.	.	423	1042	52	5	0	62	0.028891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274217361	0.0100	0.0090	0.0095	0.0105	0.0352	0.0098	0.0097	0.0339	0.0333	0.0008	0.0039	0.0053	0.0001	0.0027	0.0210	0.0092	0.0095	0.0352	0.0067	0.0068	0.0066	0.0068	0.0332	0.0064	0.0062	0.0290	0.0274	0.0016	0.0197	0.0031	0.0066	0.0008	0.0018	0.0069	0.0098	0.0062	0.0332	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9927	0.31906	T	0.027	0.11529	T	5	0.0038524568	0.00073	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.602763	0.00140	T	-0.619679	0.11211	T	0.00701992962231316	0.00080	T	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47923	B	.	.	0.550080	0.09184	5.969	0.97470783630290847	0.34136	0.02197	0.06416	N	AEFDBCI	.	.	.	-0.557036156197848	0.20264	1.066943	-0.754943317959088	0.15601	0.8213311	0.999999664354138	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	1.65	1.65	0.23015	0.145000	0.15978	-0.515000	0.08723	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	6.756	0.22703	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	119.98	21	chr10	47762985	.	G	A	119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=588;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.89;MQRankSum=-3.802e+00;QD=2.73;ReadPosRankSum=-2.760e-01;SOR=0.849	GT:AD:DP:GQ:PL	0/1:35,9:44:99:134,0,796	20	0	1	0
chr10	48897552	48897552	G	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon45:c.G7415A:p.R2472Q,	.	.	422	1076	22	2	0	26	0.0119376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	P	0.14	B	0.016	N	1.000	D	1.265	L	0.51	T	-1.100	T	0.065	T	0.265	2.749	15.15	2.06	0.642	0.441	5.360	0.004	.	0.0055	0.00559105	0.0042	0.0123	0.0025	0	0	0.0063	0	0.0010	0.0014683	227	154602	rs114867285	0.0028	0.0027	0.0028	0.0028	0.0346	0.0028	0.0027	0.0306	0.0291	0.0130	0.0080	0.0156	2.798e-05	2.144e-05	0.0346	0.0021	0.0060	0.0014	0.0063	0.0063	0.0058	0.0069	0.0133	0.0060	0.0059	0.0118	0.0113	0.0112	0	0.0133	0.0219	0	9.411e-05	0.0238	0.0027	0.0128	0.0010	0.017	0.51248	D	0.044	0.49663	D	0.568	0.38507	P	0.14	0.33554	B	0.015957	0.28108	N	0.334787	1	0.81001	D	2.045	0.56016	M	0.51	0.55439	T	-1.21	0.30762	N	0.208	0.23125	-1.0999	0.04103	T	0.065	0.26948	T	9	0.0048389435	0.00103	T	.	.	.	0.039	0.10176	.	.	0.238705975628	0.23479	0.33144262079531417	0.33057	.	.	0.25613796711	0.04442	T	0.01525	0.12830	T	-0.453173	0.01082	T	-0.412052	0.31988	T	0.00713104304871222	0.00081	T	0.713829	0.32570	T	0.04787079	0.08254	0.047829837	0.06976	0.04787079	0.08254	0.047829837	0.06976	-4.93	0.36071	T	.	.	0.080	0.07841	B	.	.	2.366957	0.30367	18.41	0.99650189834707581	0.77254	0.15140	0.18764	N	AEFDBCI	0.085209	0.17273	N	-0.462221795726552	0.23326	1.25191	-0.431818342241869	0.24068	1.315994	0.601135840412487	0.21727	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.33	2.06	0.25932	0.378000	0.20298	1.918000	0.29691	-0.106000	0.15538	0.170000	0.23934	0.999000	0.35428	0.835000	0.39381	0.4047:0.0:0.5953:0.0	5.360	0.15385	970	0.06235	PH-BEACH domain|PH-BEACH 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	0.02381	1355.98	38	chr10	48897552	.	G	A	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=837;ExcessHet=0.0000;FS=4.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.706;SOR=0.401	GT:AD:DP:GQ:PL	0/1:66,55:121:99:1370,0,1763	20	0	1	0
chr10	73240981	73240981	G	0	exonic	FAM149B1	.	.	.	.	.	431	911	149	5	26	185	0.0802625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11177.05	95	chr10	73240981	.	G	A,*	11177.05	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=1.81;DP=1346;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.347;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:44,0,27:71:99:0|1:73240978_AGCGGAG_A:1002,1135,2982,0,1848,1765:73240978	11	2	6	0
chr10	75401348	75401348	-	CCG	exonic	ZNF503	.	nonframeshift insertion	ZNF503:NM_032772:exon1:c.71_72insCGG:p.G27_A28insG,	.	.	142	1331	24	1	24	50	0.00967262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0042	0.0055	0	0	0.0046	0	0.0044	0.0016521	43	26028	rs780118403	0.0031	0.0030	0.0030	0.0033	0.0094	0.0031	0.0030	0.0072	0.0065	0.0044	0.0021	0.0066	8.399e-05	0.0007	0.0094	0.0030	0.0037	0.0064	0.0038	0.0038	0.0042	0.0034	0.0081	0.0036	0.0034	0.0061	0.0054	0.0041	0	0.0028	0.0087	0	0.0003	0.0035	0.0043	0.0048	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	836.94	35	chr10	75401348	.	T	TCCG	836.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=801;ExcessHet=0.0000;FS=4.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=0.900;SOR=1.538	GT:AD:DP:GQ:PL	0/1:28,25:53:99:851,0,1071	20	0	1	0
chr10	80603602	80603602	G	A	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_001145719:exon5:c.G520A:p.E174K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	N	1.000	D	2.52	M	2.11	T	-0.842	T	0.149	T	0.422	4.952	28.8	5.12	1.565	4.424	13.187	0.169	0.0137853832092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.531e-06	4.104e-06	4.188e-06	2.858e-06	2.666e-05	1.03e-06	7.5e-07	8.6e-07	5.8e-07	0	0	0	2.666e-05	0	0	3.674e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.129	0.70582	T	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	N	0.051918	0.999109	0.47849	D	.	.	.	2.11	0.19860	T	-2.69	0.60029	D	0.402	0.47765	-0.8418	0.52527	T	0.149	0.47646	T	10	0.33655268	0.50793	T	0.013785	0.33440	T	0.169	0.43123	0.407	0.44066	0.673305021989	0.67053	0.42195851486884756	0.42112	0.288986431784	0.31306	0.683480858803	0.64769	T	.	.	.	-0.103755	0.35804	T	-0.386813	0.34924	T	0.977092623710632	0.71683	D	0.919108	0.70849	D	.	.	.	.	.	.	.	.	-5.836	0.44887	T	.	.	0.085	0.10014	B	.;.;.	.;.;.	4.182857	0.62987	24.5	0.99918464128476825	0.98586	0.89939	0.50738	D	AEFDBI	0.537720	0.55541	D	0.593732076554503	0.72783	5.860277	0.567086584081486	0.72596	5.834571	0.997427682447776	0.35604	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.02	5.12	0.69459	4.913000	0.63039	5.865000	0.50473	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0767:0.0:0.9233:0.0	13.187	0.59111	974	0.05496	.;.;.	.	.	.	.	.	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	0.02381	743.98	46	chr10	80603602	.	G	A	743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=848;ExcessHet=0.0000;FS=5.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.71;ReadPosRankSum=-1.441e+00;SOR=0.223	GT:AD:DP:GQ:PL	0/1:14,28:42:99:758,0,354	20	0	1	0
chr10	93662069	93662069	T	C	exonic	PDE6C	.	nonsynonymous SNV	PDE6C:NM_006204:exon19:c.T2219C:p.M740T,	Cone dystrophy 4, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	1274603	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.213	B	0.243	B	0.009	N	1.000	D	1.155	L	-1.0	T	-0.471	T	0.295	T	0.315	2.503	14.33	3.79	2.095	5.767	10.924	0.430	0.0450051376222	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408988078	6.879e-06	7.525e-06	8.222e-06	5.526e-06	2.237e-05	3.48e-06	2.54e-06	8.5e-07	5.7e-07	0	2.237e-05	3.836e-05	0	0	0	3.621e-06	4.991e-05	1.161e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	0.213	0.30041	B	0.243	0.38752	B	0.009444	0.30355	N	0.391321	0.999906	0.50806	D	1.61	0.41143	L	-1.0	0.76037	T	-3.3	0.65858	D	0.501	0.53357	-0.4706	0.69704	T	0.295	0.66650	T	10	0.41426858	0.56434	T	0.045005	0.61769	D	0.430	0.73662	0.549	0.66436	0.862180089125	0.86084	0.5469892346039766	0.54624	0.39766254936	0.40849	0.63822478056	0.58312	T	0.591386	0.86769	D	-0.0474418	0.44835	T	-0.223058	0.52442	T	0.957920551300049	0.65136	D	0.928907	0.73860	D	0.57008237	0.71065	0.69877106	0.82256	0.57008237	0.71067	0.69877106	0.82257	-10.381	0.76161	D	0.3901883889531604	0.48347	0.322	0.54631	B	.	.	3.892178	0.56638	23.8	0.97948876139243335	0.37085	0.99242	0.93326	D	AEFI	0.781659	0.71318	D	0.123200309800971	0.47546	2.978862	0.246626043091975	0.52458	3.42046	0.135099291248802	0.17166	0.475973	0.10046	0	0.601575	0.49859	0	0.550215	0.18615	0	0.528226	0.09195	0	.	.	4.98	3.79	0.42757	5.930000	0.69823	4.245000	0.42727	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1399:0.0:0.0:0.8601	10.924	0.46395	378	0.83833	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	35	chr10	93662069	.	T	C	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.435e+00;DP=787;ExcessHet=0.0000;FS=5.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.47;SOR=0.396	GT:AD:DP:GQ:PL	0/1:44,55:99:99:1174,0,1057	20	0	1	0
chr10	95938628	95938628	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon8:c.T595C:p.F199L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.004	N	1.000	D	.	.	.	.	-1.041	T	0.063	T	0.236	1.128	9.600	3.53	0.479	0.447	5.534	0.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.77e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003698	0.34611	N	0.280867	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0413	0.16921	T	0.063	0.26244	T	6	0.15913004	0.29907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488951	0.15001	T	0.07450228	0.16722	0.09835596	0.23446	0.07450228	0.16722	0.09835596	0.23445	.	.	.	.	.	0.805	0.77499	P	.;.	.;.	1.050048	0.14311	10.89	0.86527769880785077	0.16596	0.54081	0.29528	D	AEFBI	.	.	.	-0.12361232976119	0.36366	2.101062	-0.0461718473644718	0.37656	2.207774	7.6425886354954E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	0.252671	0.32781	5.86	3.53	0.39533	0.459000	0.21619	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1523:0.0829:0.0:0.7648	5.534	0.16289	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.98	47	chr10	95938628	.	T	C	160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.750e+00;DP=1296;ExcessHet=0.0000;FS=139.371;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.24;ReadPosRankSum=1.51;SOR=8.468	GT:AD:DP:GQ:PL	0/1:109,21:130:99:175,0,2487	20	0	1	0
chr10	109865258	109865258	A	G	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324133:exon22:c.T1985C:p.I662T,	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0013	0.0002	8.649e-05	0.0005	0	2.997e-05	0.0022	0.0085	0.0011061	171	154602	rs538836885	0.0005	0.0005	0.0003	0.0008	0.0075	0.0005	0.0005	0.0071	0.0069	2.987e-05	0	0	0.0004	0	0.0010	5.216e-05	0.0005	0.0075	0.0003	0.0003	0.0001	0.0005	0.0089	0.0003	0.0002	0.0068	0.0061	4.813e-05	0	0	0	0.0002	0	0	4.411e-05	0.0005	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	480.98	33	chr10	109865258	.	A	G	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.450e-01;DP=765;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.88;ReadPosRankSum=-1.390e+00;SOR=0.502	GT:AD:DP:GQ:PL	0/1:39,22:61:99:495,0,1069	20	0	1	0
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,7,15,0:38:99:.:.:375,196,705,0,238,311,402,677,397,841	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,7,15,0:38:99:.:.:375,196,705,0,238,311,402,677,397,841	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,31:94:99:0|1:124989533_G_A:1112,0,2488:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:77,25:102:99:628,0,2568	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	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	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:78,19:97:99:243,0,2060	2	0	13	6
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,21:147:99:0|1:124994489_T_G:503,0,5213:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,27:150:99:0|1:124994489_T_G:738,0,5046:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,28:153:99:0|1:124994489_T_G:766,0,5087:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,50:167:99:0|1:124994523_G_A:1733,0,4630:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:108,62:170:99:1171,0,3008	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:109,69:178:99:1300,0,2989	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,75:186:99:0|1:124994577_C_A:2764,0,4273:124994577	0	0	21	0
chr10	124994610	124994641	CAAGTAGGGGTCATAAAATATGACGCTGAATC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon5:c.812_843del:p.G271Afs*36	.	.	417	925	176	4	0	184	0.0904621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1184.94	119	chr10	124994609	.	GCAAGTAGGGGTCATAAAATATGACGCTGAATC	G	1184.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.055e+00;DP=2892;ExcessHet=0.0000;FS=41.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.49;MQRankSum=-5.369e+00;QD=6.89;ReadPosRankSum=4.96;SOR=3.140	GT:AD:DP:GQ:PL	0/1:134,38:172:99:1199,0,5461	20	0	1	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.328	B	0.722	P	0.000	D	1.000	D	1.225	L	0.49	T	-0.750	T	0.204	T	0.848	1.968	12.54	-0.385	0.050	-0.041	9.404	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,10,0:85:99:0|1:125003006_T_C:174,0,3092,400,3122,3522:125003006	9	0	4	7
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155	.	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	1287.27	108	chr10	125003006	.	TATCC	CATCC,T	1287.27	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.008e+00;DP=2685;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2572;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.16;MQRankSum=-5.258e+00;QD=2.83;ReadPosRankSum=0.793;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,10,0:85:99:0|1:125003006_T_C:174,0,3092,400,3122,3522:125003006	9	0	4	7
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.269	B	0.279	B	0.000	D	1.000	D	0.59	N	0.75	T	-0.924	T	0.114	T	0.644	1.971	12.55	4.94	1.998	8.040	14.902	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,10,0:87:99:0|1:125003006_T_C:168,0,3148,400,3178,3578:125003006	9	0	4	7
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1786	504.44	107	chr10	125003008	.	T	C,*	504.44	.	AC=4,1;AF=0.143,0.036;AN=28;BaseQRankSum=-2.114e+00;DP=2666;ExcessHet=1.1607;FS=1.860;InbreedingCoeff=-0.2600;MLEAC=5,1;MLEAF=0.179,0.036;MQ=57.08;MQRankSum=-5.258e+00;QD=1.11;ReadPosRankSum=1.08;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,10,0:87:99:0|1:125003006_T_C:168,0,3148,400,3178,3578:125003006	9	0	4	7
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.955	D	0.000	D	1.000	D	2.595	M	0.74	T	-0.368	T	0.302	T	0.95	3.888	19.76	4.04	1.230	7.818	13.592	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,10,0:85:99:0|1:125003006_T_C:174,0,3091,400,3121,3521:125003006	8	0	5	7
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	517.97	102	chr10	125003010	.	C	T,*	517.97	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=-1.274e+00;DP=2706;ExcessHet=1.7912;FS=3.146;InbreedingCoeff=-0.2869;MLEAC=6,1;MLEAF=0.214,0.036;MQ=57.13;MQRankSum=-5.988e+00;QD=0.93;ReadPosRankSum=0.743;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,10,0:85:99:0|1:125003006_T_C:174,0,3091,400,3121,3521:125003006	8	0	5	7
chr10	125003014	125003014	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G508A:p.V170M	.	.	405	1091	23	3	0	29	0.0131162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.97	D	0.625	P	0.000	D	1.000	D	2.165	M	0.66	T	-0.623	T	0.217	T	0.727	1.918	12.37	4.94	2.468	5.667	18.537	0.250	0.0370058041398	.	0.000199681	4.96e-05	0	0.0004	0	0	1.506e-05	0	0	4.53e-05	7	154602	rs188280364	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0002	9.85e-06	8.42e-06	0.0001	7.816e-05	5.974e-05	0.0002	0	0	0	0	5.396e-06	4.968e-05	2.319e-05	3.938e-05	3.937e-05	3.853e-05	4.027e-05	0.0002	1.714e-05	1.128e-05	2.258e-05	9.06e-06	0	0	0.0001	0	0.0002	0	0	2.939e-05	0.0005	0	0.002	0.72154	D	0.186	0.48855	T	0.807	0.56973	P	0.221	0.51564	B	0.000009	0.62929	D	0.111475	0.999993	0.58761	D	1.965	0.53209	M	0.66	0.52416	T	-2.61	0.56144	D	0.688	0.69737	-0.6231	0.63860	T	0.217	0.57915	T	10	0.3359008	0.50739	T	0.037006	0.57349	D	0.250	0.55888	.	.	0.584855459958	0.58159	0.8951679175218594	0.89487	1.86564369553	0.92450	0.811904668808	0.83784	D	0.555273	0.85014	D	-0.113851	0.34133	T	-0.0995938	0.63430	T	0.269189680777983	0.23712	T	0.987401	0.95706	D	0.944727	0.95729	0.8822982	0.93723	0.944727	0.95730	0.8822982	0.93724	-11.379	0.86272	D	.	.	0.883	0.81672	P	.;.;.;.;.;.	.;.;.;.;.;.	5.216452	0.87545	29.3	0.99194990165840713	0.55112	0.86130	0.45353	D	AEFDGBCI	0.715390	0.66756	D	0.391390595650678	0.60954	4.290383	0.358551920301824	0.59023	4.076952	0.999999999874961	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	4.591000	0.60729	4.758000	0.44698	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.537	0.90965	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	48.72	93	chr10	125003014	.	C	T	48.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907e+00;DP=2502;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-8.421e+00;QD=0.58;ReadPosRankSum=1.34;SOR=0.922	GT:AD:DP:GQ:PL	0/1:77,7:84:62:62,0,3161	18	0	1	2
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N	.	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.986	D	0.89	P	0.000	N	1.000	D	1.515	L	0.72	T	-0.828	T	0.177	T	0.518	2.828	15.42	4.03	1.204	2.555	6.007	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	1327.89	96	chr10	125003036	.	C	A	1327.89	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-2.315e+00;DP=2688;ExcessHet=1.1607;FS=7.390;InbreedingCoeff=-0.2539;MLEAC=7;MLEAF=0.250;MQ=56.90;MQRankSum=-6.218e+00;QD=2.82;ReadPosRankSum=1.58;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,10:88:99:0|1:125003036_C_A:124,0,3170:125003036	9	0	5	7
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S	.	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.041	B	0.069	B	0.000	N	0.999	D	1.21	L	-1.93	D	-0.330	T	0.453	T	0.622	2.408	14.01	3.79	0.824	5.018	11.226	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1345.64	103	chr10	125003062	.	T	A	1345.64	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.762e+00;DP=2793;ExcessHet=1.7912;FS=10.332;InbreedingCoeff=-0.3044;MLEAC=8;MLEAF=0.286;MQ=57.06;MQRankSum=-6.687e+00;QD=2.31;ReadPosRankSum=1.25;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,11:86:99:0|1:125003062_T_A:175,0,3103:125003062	8	0	6	7
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F	.	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.972	D	0.946	D	0.000	N	1.000	D	1.455	L	0.6	T	-0.651	T	0.246	T	0.862	4.563	24.7	3.79	0.824	8.033	11.226	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1343.45	102	chr10	125003065	.	T	A	1343.45	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-1.729e+00;DP=2798;ExcessHet=1.7912;FS=10.427;InbreedingCoeff=-0.3097;MLEAC=8;MLEAF=0.286;MQ=57.07;MQRankSum=-6.630e+00;QD=2.30;ReadPosRankSum=1.20;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,11:86:99:0|1:125003062_T_A:175,0,3103:125003062	8	0	6	7
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,6:71:30:0|1:125003381_AC_A:30,0,2683:125003381	14	0	7	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,6:65:74:0|1:125003425_G_C:74,0,2459:125003425	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,5:65:29:0|1:125003425_G_C:29,0,2504:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,5:65:29:0|1:125003425_G_C:29,0,2504:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,5:62:38:0|1:125003425_G_C:38,0,2378:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,5:62:38:0|1:125003425_G_C:38,0,2378:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,5:63:35:0|1:125003425_G_C:35,0,2414:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,5:62:38:0|1:125003425_G_C:38,0,2372:125003425	9	0	7	5
chr10	125027401	125027401	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.T359A:p.V120E,	.	.	434	1072	15	1	0	17	0.00786673	.	.	2809740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.095	B	0.032	B	0.000	N	1.000	N	.	.	-3.25	D	-0.275	T	0.619	D	0.132	0.695	7.713	-8.69	-1.799	-0.314	9.598	0.212	0.0590307634611	0.0012	0.00179712	0.0027	0.0002	0.0021	0.0001	0	0.0021	0.0055	0.0093	0.0003622	56	154602	rs145765785	0.0017	0.0017	0.0014	0.0020	0.0206	0.0016	0.0016	0.0176	0.0165	0.0004	0.0022	0.0186	0	0	0.0206	0.0007	0.0031	0.0086	0.0015	0.0015	0.0014	0.0016	0.0085	0.0014	0.0013	0.0064	0.0057	0.0001	0	0.0014	0.0205	0	0	0.0102	0.0013	0.0028	0.0085	0.089	0.32141	T	0.281	0.21612	T	0.095	0.25437	B	0.032	0.22131	B	0.000008	0.00162	N	31.999700	1	0.08975	N	.	.	.	-3.25	0.93532	D	-0.21	0.10308	N	0.192	0.21056	-0.2750	0.75676	T	0.619	0.86572	D	9	0.00432235	0.00087	T	0.059031	0.67525	D	0.212	0.50341	.	.	0.45964064346	0.45589	0.0817645669245146	0.08111	0.176838138355	0.19898	0.313767671585	0.12477	T	.	.	.	-0.398383	0.02373	T	-0.33877	0.40484	T	0.0334856584668159	0.02551	T	0.30297	0.05734	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.100	0.16973	B	.	.	-1.128471	0.00608	0.016	0.6511562735489177	0.07682	0.13039	0.17628	N	AEFDBCI	0.174456	0.30158	N	-1.36632051535727	0.02959	0.1314718	-1.53629873574645	0.02072	0.09473427	0.999999986112731	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.633826	0.45126	0	0.491896	0.07777	0	.	.	4.54	-8.69	0.00741	0.108000	0.15232	-1.646000	0.04994	-0.533000	0.04955	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1958:0.1919:0.6123:0.0	9.598	0.38752	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4432.68	42	chr10	125027401	.	A	T	4432.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.25;DP=1234;ExcessHet=0.3300;FS=3.262;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=-3.200e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1184,0,1872	18	0	3	0
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X	.	.	432	1023	67	0	0	67	0.0317085	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,14:118:99:0|1:125039033_T_A:275,0,4284:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,14:118:99:0|1:125039033_T_A:275,0,4284:125039033	9	0	12	0
chr10	127738642	127738642	G	A	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon2:c.G634A:p.V212M,	.	.	401	1117	4	0	0	4	0.00178731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.132	B	0.019	B	0.517	N	1.000	N	0	N	-3.16	D	-0.401	T	0.512	D	0.108	0.965	8.939	0.894	0.379	0.977	7.035	0.173	0.103389910682	.	0.00139776	0.0012	0	0.0001	0	0	2.629e-05	0.0020	0.0071	0.0006533	101	154602	rs570152896	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	3.015e-05	0	0	0	0	0.0012	4.252e-05	0.0003	0.0049	0.0002	0.0002	0.0002	0.0002	0.0048	0.0001	0.0001	0.0033	0.0028	0	0	0	0	0.0004	0	0.0034	2.94e-05	0.0005	0.0048	0.165	0.23271	T	0.128	0.34959	T	0.132	0.27209	B	0.019	0.18783	B	0.517207	0.11781	N	0.779391	1	0.08975	N	0	0.06538	N	-3.16	0.92996	D	0.28	0.04233	N	0.059	0.03069	-0.4014	0.71982	T	0.512	0.81681	D	10	0.0044291317	0.00091	T	0.10339	0.77739	D	0.173	0.43840	0.113	0.02240	0.517432700143	0.51384	0.329444498778826	0.32857	0.589772006947	0.54461	0.507018983364	0.39805	T	0.018795	0.15087	T	-0.427681	0.01531	T	-0.38602	0.35017	T	0.00771356120368294	0.00090	T	0.19768	0.02201	T	0.03831398	0.05080	0.06358977	0.12620	0.03831398	0.05079	0.06358977	0.12619	-6.282	0.48579	T	.	.	0.114	0.22825	B	.	.	1.119891	0.15057	11.55	0.91113343137166891	0.20366	0.03457	0.08605	N	AEFDBCI	0.055854	0.10278	N	-1.11702084955328	0.06339	0.2915832	-1.12790449729831	0.07171	0.3478104	0.790632259045621	0.24009	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.15	0.894	0.18375	-0.100000	0.10959	0.837000	0.22005	-0.936000	0.02120	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3364:0.5513:0.1123	7.035	0.24166	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2448.11	33	chr10	127738642	.	G	A	2448.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=839;ExcessHet=0.1072;FS=3.572;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=-9.260e-01;SOR=0.972	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1098,0,873	19	0	2	0
chr10	132850429	132850429	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon41:c.T5767C:p.W1923R,	.	.	422	990	104	6	0	116	0.0553435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.7	L	0.18	T	-0.538	T	0.235	T	0.683	1.849	12.14	4.14	1.653	2.401	9.858	0.399	.	0.0049	0.00698882	0.0251	0.0032	0.0181	0	0.0076	0.0216	0.0670	0.0544	0.0075549	1168	154602	rs151247898	0.0098	0.0098	0.0090	0.0106	0.0394	0.0097	0.0096	0.0352	0.0335	0.0016	0.0064	0.0063	0.0001	0.0023	0.0394	0.0092	0.0105	0.0306	0.0077	0.0077	0.0078	0.0076	0.0319	0.0073	0.0072	0.0278	0.0263	0.0018	0.0242	0.0105	0.0066	0.0002	0.0020	0.0136	0.0101	0.0109	0.0319	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.972875	0.25577	N	.	.	.	0.18	0.60361	T	-6.82	0.92980	D	0.862	0.85872	-0.5380	0.67239	T	0.235	0.60234	T	10	0.008827597	0.00200	T	.	.	.	0.399	0.71321	.	.	0.468420198123	0.46471	0.5736029430132835	0.57289	0.719680404555	0.62146	0.545271277428	0.45189	T	0.201223	0.55904	T	-0.258478	0.13079	T	-0.122432	0.61602	T	0.0439943876900533	0.04419	T	0.339966	0.07337	T	0.86401325	0.88393	0.6436816	0.79174	0.86401325	0.88395	0.6436816	0.79174	-9.648	0.71778	D	.	.	0.911	0.83497	P	.	.	3.258967	0.44559	22.0	0.97795370841995799	0.36027	0.21783	0.21522	N	AEFDBI	0.078318	0.15800	N	0.24639609896864	0.53461	3.514831	0.110938199862891	0.45107	2.779827	0.00201962742530028	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.14	4.14	0.47821	2.663000	0.46440	3.858000	0.40123	0.756000	0.94297	0.983000	0.35670	0.996000	0.32793	0.049000	0.15107	1.0:0.0:0.0:0.0	9.858	0.40267	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	768.98	37	chr10	132850429	.	A	G	768.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.333;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.113;SOR=0.658	GT:AD:DP:GQ:PL	0/1:35,32:67:99:783,0,851	20	0	1	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK,	.	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	992.07	39	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	992.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.18;DP=786;ExcessHet=0.1072;FS=5.768;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=18.37;ReadPosRankSum=-9.760e-01;SOR=1.644	GT:AD:DP:GQ:PL	0/1:14,6:21:99:204,0,497	19	0	2	0
chr10	133128409	133128409	T	A	exonic	ADGRA1	.	nonsynonymous SNV	ADGRA1:NM_001291085:exon4:c.T290A:p.F97Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.993	D	0.976	D	0.000	D	1.000	D	2.095	M	1.21	T	-0.778	T	0.195	T	0.576	3.944	20.2	4.75	1.910	5.746	12.491	0.250	0.0228975837807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.873e-07	6.84e-07	1.367e-06	0	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.038	0.58089	D	0.993	0.65571	D	0.976	0.73562	D	0.000295	0.46274	D	0.092126	0.999925	0.51308	D	.	.	.	1.21	0.52867	T	-2.68	0.57275	D	0.405	0.63120	-0.7784	0.56392	T	0.195	0.54913	T	10	0.35665372	0.52399	T	0.022898	0.45827	T	0.250	0.55888	0.676	0.81398	0.450506546316	0.44672	0.5350836657821715	0.53433	1.2980656592	0.82949	0.924723744392	0.98661	D	0.227613	0.59295	T	0.0557406	0.59076	T	-0.157709	0.58557	T	0.989749252796173	0.79965	D	0.848015	0.52922	T	0.64908046	0.75315	0.48003247	0.69885	0.64908046	0.75316	0.48003247	0.69885	-11.75	0.84419	D	.	.	0.671	0.71779	P	.;.;.	.;.;.	4.415600	0.68354	25.2	0.99466858343882958	0.66102	0.95060	0.63292	D	AEFDBI	0.784674	0.71529	D	0.495985291221067	0.66854	5.004481	0.425115378595345	0.63134	4.541221	0.997864705444554	0.36124	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.75	4.75	0.59954	5.860000	0.69297	7.636000	0.62963	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.468000	0.28296	0.0:0.0:0.0:1.0	12.491	0.55238	994	0.00715	.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1396.98	33	chr10	133128409	.	T	A	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.189e+00;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=0.268;SOR=0.642	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1411,0,1026	20	0	1	0
chr10	133167414	133167414	C	T	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_001347864:exon2:c.C136T:p.R46W	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.32	M	1.57	T	-0.862	T	0.128	T	0.746	2.672	14.89	3.1	0.769	4.385	10.704	0.391	.	0.0057	0.00159744	0.0113	0.0028	0.0079	0	0.0308	0.0174	0.0157	0.0015	0.0057826	894	154602	rs145440398	0.0097	0.0097	0.0100	0.0095	0.0114	0.0096	0.0095	0.0112	0.0111	0.0014	0.0034	0.0028	2.552e-05	0.0139	0.0010	0.0114	0.0074	0.0009	0.0067	0.0067	0.0067	0.0067	0.0106	0.0064	0.0062	0.0100	0.0097	0.0021	0.0022	0.0027	0.0029	0.0004	0.0138	0	0.0106	0.0052	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000273	0.46590	D	0.000000	0.992497	0.81001	D	.	.	.	1.57	0.29342	T	-5.65	0.86988	D	0.8	0.79599	-0.8622	0.51104	T	0.128	0.43585	T	10	0.01328823	0.00282	T	.	.	.	0.391	0.70684	.	.	0.364342057095	0.36045	0.8020639365443952	0.80160	0.662220872805	0.58961	0.863450467587	0.91619	D	0.522209	0.83312	D	-0.252946	0.13739	T	-0.124439	0.61435	T	0.0252181224863887	0.01302	T	0.942106	0.78341	D	0.75923353	0.81408	0.5774754	0.75517	0.75923353	0.81409	0.5774754	0.75518	-9.268	0.69406	D	.	.	0.528	0.65820	A	.	.	4.296847	0.65572	24.8	0.9989521313216736	0.96819	0.93995	0.59797	D	AEFDBIJ	0.623685	0.60754	D	0.364838542316216	0.59526	4.132898	0.237089382617845	0.51918	3.370348	0.998920554403203	0.37985	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.05	3.1	0.34780	3.663000	0.54256	1.271000	0.25291	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.316000	0.24877	0.1929:0.8071:0.0:0.0	10.704	0.45143	994	0.00715	KIND domain|KIND domain|KIND 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	0.02381	1259.98	37	chr10	133167414	.	C	T	1259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.126;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=-2.610e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1274,0,906	20	0	1	0
chr10	133285526	133285526	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon11:c.G1435A:p.A479T	.	.	428	1090	4	0	0	4	0.0018315	.	.	1327025	not_provided|not_specified|TUBGCP2-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.002	B	0.001	N	0.999	N	0.69	N	3.05	T	-0.930	T	0.012	T	0.05	0.640	7.440	1.87	-0.099	0.436	4.003	0.042	0.0222791527092	0.0022	0.000199681	0.0018	0.0003	0.0005	0	0.0012	0.0030	0.0025	7.329e-05	0.0018434	285	154602	rs142228780	0.0029	0.0029	0.0030	0.0028	0.0035	0.0028	0.0028	0.0034	0.0034	0.0002	0.0008	3.86e-05	0	0.0027	0.0014	0.0035	0.0024	4.664e-05	0.0019	0.0019	0.0020	0.0018	0.0034	0.0017	0.0017	0.0031	0.0029	0.0004	0.0011	0.0006	0	0	0.0024	0	0.0034	0.0024	0	1.0	0.04443	T	0.76	0.07666	T	0.0	0.02946	B	0.002	0.06944	B	0.000695	0.42383	N	0.242256	0.999457	0.21167	N	0.295	0.10161	N	3.05	0.08721	T	0.74	0.02038	N	0.19	0.25499	-0.9297	0.44183	T	0.012	0.04558	T	10	0.011584461	0.00253	T	0.022279	0.45152	T	0.042	0.11227	.	.	0.178374595973	0.17440	0.10699216563095175	0.10629	0.275970821921	0.30079	0.579298317432	0.49987	T	0.049268	0.28258	T	-0.686392	0.00044	T	-0.757503	0.03202	T	0.011948437973464	0.00187	T	0.517648	0.17878	T	0.015110092	0.00123	0.03312574	0.02156	0.015110092	0.00123	0.03312574	0.02156	1.887	0.00135	T	.	.	0.056	0.00754	B	.;.;.;.;.	.;.;.;.;.	0.596762	0.09652	6.424	0.89860791531239614	0.19166	0.50218	0.28612	D	AEFDGBI	0.081225	0.16433	N	-0.960441342184689	0.09459	0.447799	-0.805841152314234	0.14354	0.7495741	3.88220892101444E-4	0.06781	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	1.87	0.24559	0.469000	0.21779	1.236000	0.25075	-0.783000	0.03311	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.3768:0.1373:0.0:0.4858	4.003	0.09078	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1472.98	34	chr10	133285526	.	C	T	1472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.212e+00;DP=806;ExcessHet=0.0000;FS=3.788;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.348;SOR=0.389	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1487,0,1089	20	0	1	0
chr10	133381498	133381498	T	G	exonic	PAOX	.	nonsynonymous SNV	PAOX:NM_152911:exon3:c.T707G:p.L236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.001	D	1.000	D	2.73	M	-3.22	D	0.942	D	0.883	D	0.746	2.251	13.48	4.76	2.002	7.222	10.574	0.860	0.798944824651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000708	0.42254	D	0.156795	0.993884	0.81001	D	.	.	.	-3.22	0.93352	D	-4.77	0.81835	D	0.735	0.79310	0.942	0.96269	D	0.883	0.96119	D	10	0.9910426	0.99622	D	0.798945	0.98426	D	0.860	0.95728	0.901	0.97816	0.878768801948	0.87758	0.9278711911418758	0.92765	0.917811076885	0.71316	0.511783480644	0.40472	T	.	.	.	0.338753	0.85754	D	0.248819	0.85567	D	0.994167447090149	0.85300	D	0.745725	0.36599	T	.	.	.	.	.	.	.	.	-15.637	0.97166	D	.	.	0.768	0.75833	P	.;.;.	.;.;.	4.275675	0.65092	24.8	0.99720663983754187	0.82054	0.98469	0.83105	D	AEFDBIJ	0.786796	0.71677	D	0.623813870998585	0.74683	6.174592	0.509903470574245	0.68653	5.250149	0.999994740387877	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	4.76	0.60189	5.596000	0.67261	7.730000	0.67710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:0.0:1.0	10.574	0.44406	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1847.98	39	chr10	133381498	.	T	G	1847.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.002e+00;DP=954;ExcessHet=0.0000;FS=1.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=0.618;SOR=0.887	GT:AD:DP:GQ:PL	0/1:89,82:171:99:1862,0,2397	20	0	1	0
chr11	640090	640090	G	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	623	857	15	8	19	50	0.017765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	599.75	23	chr11	640090	.	G	C,*	599.75	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=-1.502e+00;DP=553;ExcessHet=0.3672;FS=2.997;InbreedingCoeff=0.0028;MLEAC=2,1;MLEAF=0.056,0.028;MQ=59.46;MQRankSum=0.901;QD=7.06;ReadPosRankSum=1.91;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,0,11:26:99:0|1:640056_TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC_T:417,463,1071,0,608,575:640056	15	0	2	3
chr11	640098	640098	C	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.38	27	chr11	640098	.	C	CGGCCTCCCCCCGG,*	105.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.12;DP=602;ExcessHet=0.1128;FS=5.993;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=59.13;MQRankSum=-1.396e+00;QD=1.79;ReadPosRankSum=-5.570e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,0,11:26:99:0|1:640056_TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC_T:417,463,1071,0,608,575:640056	18	0	1	1
chr11	640099	640099	A	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	.	654	794	37	18	19	92	0.0439494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1313.13	27	chr11	640099	.	A	G,*	1313.13	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-7.890e-01;DP=605;ExcessHet=0.7148;FS=3.595;InbreedingCoeff=-0.0112;MLEAC=3,1;MLEAF=0.079,0.026;MQ=59.62;MQRankSum=0.00;QD=13.13;ReadPosRankSum=1.12;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,0,11:26:99:0|1:640056_TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC_T:417,463,1071,0,608,575:640056	15	0	3	2
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/1:337,35,36:408:43:442,0,14090,43,12657,14027	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:312,118,130,0:560:99:.:.:4458,482,13621,0,7828,12136,5388,13602,12644,18373	0	0	4	1
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:368,140,54,0:562:99:.:.:4773,0,15029,3614,13187,18903,5880,15452,19066,21331	0	0	13	0
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,191,0:561:99:0|1:1017440_C_T:6906,0,14961,8020,15536,23556:1017440	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:493,68,0:561:99:.:.:1351,0,20475,2835,20679,23514	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:503,52,0:555:99:0|1:1017458_A_G:669,0,20964,2183,21121,23304:1017458	1	0	13	2
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,176,0:550:99:0|1:1017440_C_T:6264,0,15174,7390,15704,23094:1017440	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:453,62,0:550:99:.:.:1240,0,18835,2603,19021,21625	3	0	9	6
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:501,43,0:544:99:0|1:1017489_G_A:297,0,20907,1806,21037,22842:1017489	3	0	12	1
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:464,92,0:556:99:.:.:2466,0,19163,3863,19440,23303	3	0	10	5
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:281,100,68,90:539:99:.:.:3297,0,11096,1314,8619,13075,342,7696,9455,12038	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:494,40,0:534:99:0|1:1017489_G_A:193,0,20598,1680,20718,22398:1017489	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:298,234,0:532:99:.:.:8826,0,11241,9722,11945,21667	0	0	15	2
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:494,50,0:544:13:.:.:13,0,19739,1500,19889,21389	5	0	7	5
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,24,15:189:99:0|1:1018138_T_C:556,0,6222,378,5666,6631:1018138	5	0	15	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:156,15,18:189:99:.:.:282,132,6766,0,5922,6486	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:216,10,17:243:64:.:.:64,294,9334,0,8650,9019	6	0	10	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,130,0:133:99:1|1:1095948_C_G:5581,329,0,5590,391,5653:1095948	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,141,0,0:141:99:1|1:1095948_C_G:5680,423,0,5680,423,5680,5680,423,5680,5680:1095948	0	19	0	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,0,71:71:99:0|1:1096086_G_*:2297,2318,2657,99,0,3877:1096086	13	0	4	0
chr11	1096111	1096111	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	79.85	480	chr11	1096111	.	A	*,C	79.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.357;DP=8504;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.72;MQRankSum=-8.541e+00;QD=0.39;ReadPosRankSum=2.52;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,71,0:71:96:0|1:1096086_G_*:2291,96,3917,2313,0,2653:1096086	17	0	1	2
chr11	1096114	1096114	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	72.85	463	chr11	1096114	.	A	*,T	72.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.462;DP=8511;ExcessHet=0.0000;FS=4.009;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.60;MQRankSum=-8.585e+00;QD=0.36;ReadPosRankSum=2.34;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,71,0:71:89:0|1:1096086_G_*:2266,89,4155,2291,0,2635:1096086	17	0	1	2
chr11	1096114	1096114	A	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.481e-05	0.0001	1.131e-05	1.845e-05	3.372e-05	9.26e-06	7.64e-06	1.004e-05	8.12e-06	3.372e-05	0	4.782e-05	0	0	0	1.695e-05	0	0	6.947e-05	0.0002	5.422e-05	8.551e-05	0.0003	3.706e-05	2.854e-05	9.37e-05	5.583e-05	2.502e-05	0	0.0003	0	0	0	0	6.238e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.05263	72.85	463	chr11	1096114	.	A	*,T	72.85	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.462;DP=8511;ExcessHet=0.0000;FS=4.009;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=54.60;MQRankSum=-8.585e+00;QD=0.36;ReadPosRankSum=2.34;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,71,0:71:89:0|1:1096086_G_*:2266,89,4155,2291,0,2635:1096086	17	0	1	2
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13067.43	463	chr11	1096123	.	C	*,T	13067.43	.	AC=2,6;AF=0.050,0.150;AN=40;BaseQRankSum=0.051;DP=8687;ExcessHet=0.0303;FS=1.783;InbreedingCoeff=0.3363;MLEAC=2,6;MLEAF=0.050,0.150;MQ=56.41;MQRankSum=2.66;QD=7.92;ReadPosRankSum=0.268;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,71,7:78:99:0|1:1096086_G_*:2468,330,4824,2248,0,2584:1096086	14	0	0	1
chr11	1096140	1096140	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	620.81	463	chr11	1096140	.	C	*,CAT	620.81	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=1.11;DP=8549;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.11;MQRankSum=1.21;QD=2.33;ReadPosRankSum=1.58;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,71,21:93:99:0|1:1096086_G_*:2729,637,5476,2185,0,2536:1096086	17	0	1	2
chr11	1096140	1096140	-	AT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	6.707e-05	3.157e-05	0.0002	0	0.0004	0.0002	0.0002	0.0002	1.361e-05	0.0002	0.0006	0.0001	0.0002	0.0004	0.0001	9.498e-05	0.0002	0.0001	4.865e-05	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	620.81	463	chr11	1096140	.	C	*,CAT	620.81	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=1.11;DP=8549;ExcessHet=0.0000;FS=0.959;InbreedingCoeff=0.4474;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.11;MQRankSum=1.21;QD=2.33;ReadPosRankSum=1.58;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,71,21:93:99:0|1:1096086_G_*:2729,637,5476,2185,0,2536:1096086	17	0	1	2
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	2|3:1,0,72,21:94:99:0|1:1096086_G_*:2737,3187,5761,637,3399,5473,2195,2810,0,2578:1096086	13	0	5	1
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	2|3:1,0,72,21:94:99:0|1:1096086_G_*:2737,3187,5761,637,3399,5473,2195,2810,0,2578:1096086	13	0	5	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	2/2:3,0,187:190:99:7821,6134,11560,602,883,0	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,27:114:99:0|1:1096086_G_*:2334,1025,7124,0,3355,3400:1096086	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,27:114:99:0|1:1096086_G_*:2334,1025,7124,0,3355,3400:1096086	1	0	17	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,166,0:169:99:.:.:7684,539,0,5692,574,7369	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:121,0,51:172:99:0|1:1096086_G_*:3176,1461,6908,0,4605,4759:1096086	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:121,0,51:172:99:0|1:1096086_G_*:3176,1461,6908,0,4605,4759:1096086	1	0	11	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:124,0,51:175:99:0|1:1096086_G_*:3149,1348,6315,0,5038,4920:1096086	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:123,0,51:174:99:0|1:1096086_G_*:3152,1347,6273,0,4996,4879:1096086	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:123,0,51:174:99:0|1:1096086_G_*:3152,1347,6273,0,4996,4879:1096086	0	0	8	11
chr11	1096650	1096650	C	0	exonic	MUC2	.	.	.	.	.	8	102	82	32	2	148	0.417143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15758.34	106	chr11	1096650	.	C	T,*	15758.34	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=3.24;DP=2340;ExcessHet=0.0097;FS=1.183;InbreedingCoeff=0.4232;MLEAC=9,1;MLEAF=0.225,0.025;MQ=53.80;MQRankSum=-1.435e+00;QD=20.23;ReadPosRankSum=0.795;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,110,0:110:99:1|1:1096650_C_T:4597,330,0,4597,330,4597:1096650	13	3	3	1
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,95,0:95:99:1|1:1096650_C_T:4122,285,0,4122,285,4122:1096650	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:10,0,8:18:99:0|1:1096650_C_T:306,336,756,0,420,396:1096650	1	0	1	12
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,6,0:20:99:0|1:1096650_C_T:210,0,474,252,492,744:1096650	6	0	1	12
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,6,0:20:99:0|1:1096650_C_T:210,0,474,252,492,744:1096650	6	0	1	12
chr11	1096745	1096745	T	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0.0022	0.0002	0	0	0.0005	0.0014	9.592e-05	0.0002	0.0001	0	5.35e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1667	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,6,0:20:99:0|1:1096650_C_T:210,0,474,252,492,744:1096650	6	0	1	12
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,6,0:20:99:0|1:1096650_C_T:210,0,474,252,492,744:1096650	6	0	1	12
chr11	1096746	1096746	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	9.388e-05	0.0016	9.128e-05	8.14e-05	0.0009	0.0007	0.0016	0.0001	0	0	0.0001	0.0009	8.058e-05	0.0002	7.458e-05	0	9.879e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.05556	160.56	32	chr11	1096746	.	C	G	160.56	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.03;DP=655;ExcessHet=0.0000;FS=8.929;InbreedingCoeff=0.0408;MLEAC=2;MLEAF=0.111;MQ=40.75;MQRankSum=-2.367e+00;QD=8.45;ReadPosRankSum=-1.678e+00;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,5:19:99:0|1:1096650_C_T:168,0,477:1096650	8	0	1	12
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	1/1:0,12,0:12:35:344,35,0,344,35,344	4	8	2	6
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,13,0:41:99:.:.:199,0,708,282,747,1029	4	0	6	10
chr11	1097397	1097397	C	0	exonic	MUC2	.	.	.	.	.	683	731	102	3	3	111	0.0687898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2445.2	75	chr11	1097397	.	C	T,*	2445.2	.	AC=3,1;AF=0.083,0.028;AN=36;BaseQRankSum=-2.256e+00;DP=2418;ExcessHet=0.6776;FS=16.908;InbreedingCoeff=-0.1507;MLEAC=3,1;MLEAF=0.083,0.028;MQ=32.67;MQRankSum=2.33;QD=6.75;ReadPosRankSum=-1.210e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:14,37,0:51:99:729,0,281,771,390,1161	14	0	3	3
chr11	1097520	1097520	T	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394082476	0.0051	0.0082	0.0050	0.0051	0.0055	0.0050	0.0049	0.0054	0.0053	0.0004	0.0026	0.0043	0	0.0160	0.0044	0.0055	0.0050	0.0016	0.0028	0.0060	0.0027	0.0030	0.0046	0.0025	0.0024	0.0040	0.0037	0.0005	0	0.0009	0.0038	0	0.0104	0	0.0046	0.0071	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.05263	149.78	280	chr11	1097520	.	T	G,*	149.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.167e+00;DP=4463;ExcessHet=0.1072;FS=0.823;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=33.60;MQRankSum=1.32;QD=0.62;ReadPosRankSum=-1.456e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:41,12,0:53:99:163,0,1012,285,1047,1333	17	0	1	2
chr11	1097520	1097520	T	0	exonic	MUC2	.	.	.	.	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	149.78	280	chr11	1097520	.	T	G,*	149.78	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=-2.167e+00;DP=4463;ExcessHet=0.1072;FS=0.823;InbreedingCoeff=-0.0769;MLEAC=1,1;MLEAF=0.026,0.026;MQ=33.60;MQRankSum=1.32;QD=0.62;ReadPosRankSum=-1.456e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:41,12,0:53:99:163,0,1012,285,1047,1333	17	0	1	2
chr11	1097560	1097560	A	0	exonic	MUC2	.	.	.	.	.	36	182	1	1	6	9	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	502.64	172	chr11	1097560	.	A	C,*	502.64	.	AC=3,2;AF=0.094,0.063;AN=32;BaseQRankSum=2.96;DP=3898;ExcessHet=0.0454;FS=0.723;InbreedingCoeff=0.1765;MLEAC=3,2;MLEAF=0.094,0.063;MQ=33.04;MQRankSum=0.067;QD=1.50;ReadPosRankSum=-2.820e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,8,0:13:55:.:.:215,0,55,229,79,308	12	1	1	5
chr11	1098795	1098795	G	0	exonic	MUC2	.	.	.	.	.	679	640	201	0	2	203	0.135719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	9572.22	147	chr11	1098795	.	G	A,*	9572.22	.	AC=7,1;AF=0.194,0.028;AN=36;BaseQRankSum=2.22;DP=3836;ExcessHet=3.7745;FS=1.215;InbreedingCoeff=-0.2250;MLEAC=8,1;MLEAF=0.222,0.028;MQ=35.69;MQRankSum=-3.090e-01;QD=4.86;ReadPosRankSum=0.919;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:158,91,46:295:99:.:.:2016,0,4787,2608,5209,10537	10	0	7	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,35,0:246:99:0|1:1098812_C_A:650,0,8566,1315,8704,10188:1098812	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:210,46,34:290:99:0|1:1098812_C_A:616,1161,10142,0,8565,8547:1098812	6	0	3	3
chr11	1098825	1098825	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	697.62	108	chr11	1098825	.	T	A,*	697.62	.	AC=4,2;AF=0.154,0.077;AN=26;BaseQRankSum=3.00;DP=3021;ExcessHet=1.7912;FS=0.664;InbreedingCoeff=-0.3114;MLEAC=5,3;MLEAF=0.192,0.115;MQ=36.82;MQRankSum=0.477;QD=0.77;ReadPosRankSum=-2.954e+00;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,28,0:235:99:0|1:1098812_C_A:412,0,8210,1053,8316,9508:1098812	7	0	4	8
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,36,0,152:188:99:0|1:1099366_T_*:6102,2017,1710,4834,2014,4625,1497,0,1503,1040:1099366	3	2	3	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,40,152:193:99:0|1:1099366_T_*:6136,1995,1704,1581,0,1257:1099366	0	15	0	0
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:513,106,0:619:99:0|1:1185018_A_C:2907,0,21222,4451,21541,25992:1185018	7	0	3	5
chr11	1191185	1191185	C	G	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C13040G:p.P4347R,	.	.	442	1071	9	0	0	9	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431067934	4.412e-05	0.0051	6.005e-05	3.097e-05	5.7e-05	3.068e-05	2.606e-05	3.642e-05	3.029e-05	0	0	0	0	0.0002	0	5.7e-05	3.159e-05	0	0.0004	0.0036	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0004	7.433e-05	0	0.0003	0.0003	0	0.0006	0.0035	0.0007	0.0010	0.0002	.	.	.	0.343	0.17857	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.096613884	0.17342	T	.	.	.	.	.	.	.	.	.	0.11661188044219233	0.11589	.	.	.	.	.	0.048077	0.27912	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.804	0.72730	D	.	.	0.115	0.23077	B	.	.	1.000330	0.13788	10.34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.226000	0.32167	-2.196000	0.04073	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	1383.98	840	chr11	1191185	.	C	G	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.529e+00;DP=15849;ExcessHet=0.0000;FS=1.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.10;MQRankSum=-1.293e+01;QD=1.79;ReadPosRankSum=3.17;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:689,84:773:99:0|1:1191146_T_C:1398,0,28545:1191146	20	0	1	0
chr11	1191195	1191195	-	GCCAGCACAACCTTTGCTCCTACA	exonic	MUC5AC	.	nonframeshift insertion	MUC5AC:NM_001304359:exon31:c.13050_13051insGCCAGCACAACCTTTGCTCCTACA:p.T4350_T4351insASTTFAPT,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.543e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1319.94	840	chr11	1191195	.	C	CGCCAGCACAACCTTTGCTCCTACA	1319.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.740e-01;DP=15923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.41;MQRankSum=-1.943e+00;QD=1.90;ReadPosRankSum=1.63;SOR=1.386	GT:AD:DP:GQ:PL	0/1:692,1:693:99:1334,0,28730	20	0	1	0
chr11	1191642	1191642	T	0	exonic	MUC5AC	.	.	.	.	.	504	823	191	3	1	198	0.106891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	9561.57	753	chr11	1191642	.	T	*,A	9561.57	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.214;DP=11227;ExcessHet=0.0082;FS=1.736;InbreedingCoeff=0.3778;MLEAC=3,1;MLEAF=0.075,0.025;MQ=53.89;MQRankSum=1.86;QD=5.67;ReadPosRankSum=0.701;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,136,0:570:99:0|1:1191628_ACCAGCACAACCTCTGCCTCTACAG_A:4409,0,17746,5716,18179,23895:1191628	17	0	2	1
chr11	1598173	1598173	-	GAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	exonic	KRTAP5-2	.	nonframeshift insertion	KRTAP5-2:NM_001004325:exon1:c.77_78insCGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGCTATGGCTC:p.G34_R35insCGGYGSGCGGCGSG,	.	.	495	934	90	0	3	93	0.0459653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.206e-06	0.0011	9.953e-06	8.445e-06	8.592e-06	4.94e-06	3.61e-06	3.7e-06	2.67e-06	0	0	5.617e-05	0	0	0	8.592e-06	4.495e-05	0	2.054e-05	0.0005	0	4.356e-05	0.0001	3.41e-06	1.28e-06	.	.	0	0	0.0001	0	0	0	0	1.999e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	121.94	33	chr11	1598173	.	A	AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG	121.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=1219;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=58.97;MQRankSum=-9.768e+00;QD=1.26;ReadPosRankSum=-4.482e+00;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,10:97:99:0|1:1598173_A_AGAGCCATAGCCCCCACAGCCGGAGCCACAGCCCCCACAGCCG:136,0,3616:1598173	20	0	1	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,53,0:136:99:.:.:1398,0,2988,1647,3147,4795	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,53,0:136:99:.:.:1398,0,2988,1647,3147,4795	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,55,53:108:99:.:.:4106,1678,1991,2001,0,2635	3	3	5	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:121,22:162:15:15,0,3473	5	0	11	5
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,42,22,0,0,0:64:99:.:.:2019,904,1041,1192,0,1557,2112,1052,1459,2420,2112,1052,1459,2420,2420,2112,1052,1459,2420,2420,2420	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,42,22,0,0,0:64:99:.:.:2019,904,1041,1192,0,1557,2112,1052,1459,2420,2112,1052,1459,2420,2420,2112,1052,1459,2420,2420,2420	0	5	0	0
chr11	6557399	6557399	G	T	exonic	DNHD1	.	stopgain	DNHD1:NM_144666:exon25:c.G8104T:p.E2702X,	.	.	324	1196	2	0	0	2	0.000835422	.	.	1923490	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	12.528	46	1.03	0.308	1.307	5.471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1012468951	1.144e-05	1.231e-05	9.875e-06	1.304e-05	1.39e-05	6.77e-06	5.48e-06	8.35e-06	6.62e-06	0	0	0	0	0	0	1.39e-05	1.72e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.167	0.18376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284884	0.81731	D	0.276725	0.86946	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.020853	0.96043	35	0.98375330917398052	0.40791	0.67471	0.33445	D	AEFDBI	0.065849	0.12864	N	0.0960410083347103	0.46276	2.870636	-0.182596787809762	0.32175	1.827988	0.955971490287416	0.28220	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.16	1.03	0.19161	1.083000	0.30427	5.003000	0.46611	-0.119000	0.14319	0.997000	0.40164	1.000000	0.68203	0.043000	0.14563	0.3318:0.1345:0.5337:0.0	5.471	0.15967	464	0.78488	.;.	.	.	.	.	.	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	0.02381	1127.98	86	chr11	6557399	.	G	T	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.198e+00;DP=1330;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-6.300e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/1:47,43:90:99:1142,0,1330	20	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,12:48:13:.:.:13,0,750	7	0	10	4
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,46,0,0,0:46:99:.:.:2047,2049,2051,2049,2051,2051,137,139,139,0,2049,2051,2051,139,2051,2049,2051,2051,139,2051,2051,2049,2051,2051,139,2051,2051,2051	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,46,0,0,0:46:99:.:.:2047,2049,2051,2049,2051,2051,137,139,139,0,2049,2051,2051,139,2051,2049,2051,2051,139,2051,2051,2049,2051,2051,139,2051,2051,2051	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,46,0,0,0:46:99:.:.:2047,2049,2051,2049,2051,2051,137,139,139,0,2049,2051,2051,139,2051,2049,2051,2051,139,2051,2051,2049,2051,2051,139,2051,2051,2051	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,46,0,0,0:46:99:.:.:2047,2049,2051,2049,2051,2051,137,139,139,0,2049,2051,2051,139,2051,2049,2051,2051,139,2051,2051,2049,2051,2051,139,2051,2051,2051	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,46,0,0,0:46:99:.:.:2047,2049,2051,2049,2051,2051,137,139,139,0,2049,2051,2051,139,2051,2049,2051,2051,139,2051,2051,2049,2051,2051,139,2051,2051,2051	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	3/3:0,0,0,46,0,0,0:46:99:.:.:2047,2049,2051,2049,2051,2051,137,139,139,0,2049,2051,2051,139,2051,2049,2051,2051,139,2051,2051,2049,2051,2051,139,2051,2051,2051	6	0	4	0
chr11	17572108	17572108	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon17:c.C2020T:p.P674S	Deafness, autosomal recessive 18B, Autosomal recessive	.	9	1510	3	0	0	3	0.000992392	.	.	497189	OTOG-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.57	T	.	.	.	.	0.001	U	1.000	D	1.7	L	2.45	T	-1.118	T	0.063	T	0.378	4.527	24.4	4.48	1.259	5.536	15.798	0.162	0.0267565357533	.	0.000199681	0.0019	0	0	0.0021	0	0.0008	0	0.0031	0.0002458	38	154602	rs547173007	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0021	0.0020	9.494e-05	0.0002	0.0015	8.395e-05	0.0001	0.0016	0.0003	0.0004	0.0024	0.0004	0.0004	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	0	0.0044	0.0001	0.0017	0	0.0003	0	0.0005	0.0009	0.0023	0.007	0.59928	D	0.006	0.70582	D	.	.	.	.	.	.	0.001101	0.40303	U	0.100924	0.999985	0.54805	D	1.54	0.38927	L	2.35	0.16217	T	-7.06	0.93879	D	0.498	0.53093	-1.1178	0.02476	T	0.063	0.26172	T	8	0.011637777	0.00253	T	0.026757	0.49639	D	0.162	0.41843	.	.	0.219573609325	0.21563	0.8066944055695792	0.80624	.	.	0.657042741776	0.60987	T	0.419847	0.77174	T	-0.448929	0.01146	T	-0.422559	0.30783	T	0.143607959532727	0.16582	T	0.925507	0.72634	D	0.42001587	0.62092	0.45461687	0.68289	0.36612624	0.58298	0.47819626	0.69772	-8.306	0.63136	D	.	.	0.208	0.45617	B	.;.	.;.	3.652999	0.51852	23.2	0.99888666756302069	0.96359	0.97679	0.76359	D	AEFBCI	0.710560	0.66429	D	0.203593060687079	0.51372	3.319084	0.273156754490913	0.53978	3.564266	0.999992560150406	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.4	4.48	0.53973	5.852000	0.69220	4.864000	0.45499	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8632:0.1367:0.0	15.798	0.78197	819	0.41190	von Willebrand factor, type D domain;von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	911.98	35	chr11	17572108	.	C	T	911.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=821;ExcessHet=0.0000;FS=5.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.24;ReadPosRankSum=1.64;SOR=0.905	GT:AD:DP:GQ:PL	0/1:86,40:126:99:926,0,2113	20	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I,	.	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.027	B	0.015	B	0.751	N	1.000	N	0.575	N	-1.56	D	-0.958	T	0.086	T	0.088	0.556	7.009	2.53	0.332	0.209	6.128	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	5584.92	36	chr11	26721693	.	C	T	5584.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.346;DP=1020;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.186;SOR=0.699	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1543,0,1133	17	0	4	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	1/3:7,9,4,15:37:86:423,147,523,192,309,373,101,0,86,153	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	1/3:7,9,4,15:37:86:423,147,523,192,309,373,101,0,86,153	0	0	0	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	D	0.962	D	0.000	D	1.000	D	1.845	L	.	.	-0.421	T	0.412	T	0.57	4.701	26.1	6.17	2.941	9.675	20.879	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	64.55	62	chr11	33085948	.	G	A	64.55	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-2.399e+00;DP=1259;ExcessHet=0.1072;FS=70.487;InbreedingCoeff=-0.1161;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=1.13;SOR=5.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,7:55:66:0|1:33085948_G_A:66,0,1618:33085948	15	0	2	4
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	P	0.828	P	0.000	D	1.000	D	2.615	M	.	.	-0.107	T	0.505	D	0.656	5.013	29.5	6.03	2.861	9.675	20.557	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1267.41	50	chr11	33085953	.	G	A	1267.41	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.118e+00;DP=1212;ExcessHet=1.1607;FS=252.446;InbreedingCoeff=-0.4237;MLEAC=9;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=3.22;ReadPosRankSum=1.37;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,9:56:83:0|1:33085948_G_A:83,0,1606:33085948	1	0	5	15
chr11	33543029	33543029	C	T	exonic	KIAA1549L	.	nonsynonymous SNV	KIAA1549L:NM_012194:exon2:c.C1466T:p.A489V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.975	D	0.505	P	0.976	N	1.000	N	1.04	L	.	.	-1.052	T	0.059	T	0.023	1.027	9.193	1.26	0.079	-0.507	4.066	0.009	0.021879617209	.	0.000399361	6.632e-05	0	0	0.0001	0	0	0	0.0004	6.47e-05	10	154602	rs574933627	4.311e-05	4.309e-05	2.995e-05	5.639e-05	0.0005	3.443e-05	3.129e-05	0.0003	0.0003	0	0	0	2.519e-05	0	0.0002	1.439e-05	8.282e-05	0.0005	4.594e-05	4.593e-05	3.853e-05	5.369e-05	0.0012	2.107e-05	1.525e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	0.144	0.26965	T	0.632	0.18560	T	0.975	0.58077	D	0.505	0.47795	P	0.975569	0.08129	N	0.986267	1	0.08975	N	0.895	0.22405	L	.	.	.	-0.87	0.23590	N	0.023	0.00770	-1.0522	0.13790	T	0.059	0.24908	T	9	0.01527667	0.00321	T	0.02188	0.44707	T	0.009	0.00846	.	.	0.0551355673512	0.04727	0.1189732685767881	0.11824	0.174515240809	0.19649	0.260654062033	0.04969	T	0.03348	0.22931	T	-0.604663	0.00136	T	-0.749956	0.03487	T	0.019241312654735	0.00630	T	0.49705	0.15447	T	0.018557725	0.00378	0.033976723	0.02383	0.018557725	0.00377	0.033976723	0.02382	-4.109	0.25701	T	.	.	0.085	0.10256	B	.;.	.;.	0.534840	0.09034	5.817	0.95055026982366531	0.26077	0.01820	0.05660	N	AEFDGBHCI	0.040079	0.05910	N	-0.935588641483993	0.10018	0.4768016	-1.03185818556665	0.09089	0.4502651	0.999999991318725	0.74766	0.758104	0.99027	0	0.61073	0.52368	0	0.505578	0.09266	0	0.665031	0.64506	0	.	.	4.35	1.26	0.20534	-0.445000	0.06918	-1.693000	0.04903	-1.820000	0.00602	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1618:0.5428:0.0:0.2954	4.066	0.09339	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2152.98	134	chr11	33543029	.	C	T	2152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=1536;ExcessHet=0.0000;FS=3.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.75;SOR=0.702	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2167,0,2193	20	0	1	0
chr11	46603567	46603567	C	T	exonic	HARBI1	.	nonsynonymous SNV	HARBI1:NM_173811:exon3:c.G1013A:p.R338H,	.	.	.	.	.	.	.	.	.	.	.	2267731	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.001	B	0.000	D	0.999	D	0.625	N	.	.	-0.999	T	0.124	T	0.471	2.519	14.38	5.06	1.537	2.146	11.928	0.065	0.00442690506939	.	0.000199681	3.434e-05	0	0	0	0	1.529e-05	0	0.0002	3.23e-05	5	154602	rs562293059	1.921e-05	1.984e-05	1.228e-05	2.622e-05	0.0002	1.332e-05	1.147e-05	0.0001	0.0001	5.987e-05	0	0	2.524e-05	0	0	6.311e-06	1.662e-05	0.0002	2.626e-05	2.625e-05	3.854e-05	1.343e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0	0.209	0.19710	T	0.244	0.24123	T	0.002	0.09854	B	0.001	0.04355	B	0.000407	0.44736	D	0.187775	0.998972	0.45795	D	1.04	0.26193	L	.	.	.	-1.03	0.27052	N	0.12	0.11054	-0.9994	0.30087	T	0.124	0.42736	T	9	0.052820653	0.05375	T	0.004427	0.10844	T	0.065	0.18881	0.378	0.39319	0.286081765059	0.28222	0.20085241050803743	0.20002	0.210539273682	0.23543	0.418046414852	0.27568	T	0.051778	0.28975	T	-0.241105	0.15208	T	-0.319678	0.42611	T	0.105311490595341	0.12931	T	0.817118	0.47377	T	0.06674311	0.14389	0.050151132	0.07811	0.06674311	0.14389	0.050151132	0.07810	-5.384	0.40765	T	.	.	0.092	0.13644	B	.	.	3.175312	0.43079	21.7	0.98777834632262906	0.46080	0.72557	0.35510	D	AEFDGBCI	0.110658	0.21935	N	-0.218498975035383	0.32374	1.825145	-0.0281925116270787	0.38448	2.265273	0.999985968989425	0.51787	0.706298	0.61202	0	0.522029	0.08744	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.96	5.06	0.67838	2.191000	0.42272	3.345000	0.37739	0.599000	0.40250	0.964000	0.33853	0.996000	0.32793	0.988000	0.63387	0.0:0.862:0.0:0.138	11.928	0.52117	0	0.99858	.	.	.	.	.	.	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	0.02381	868.98	37	chr11	46603567	.	C	T	868.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=756;ExcessHet=0.0000;FS=3.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=1.24;SOR=1.201	GT:AD:DP:GQ:PL	0/1:35,31:66:99:883,0,893	20	0	1	0
chr11	49034211	49034211	T	G	exonic	TRIM49B	.	nonsynonymous SNV	TRIM49B:NM_001206626:exon4:c.T573G:p.H191Q,	.	.	555	965	2	0	0	2	0.0010352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	.	.	.	.	.	.	1.000	N	2.195	M	3.63	T	-0.957	T	0.018	T	0.087	-0.191	3.070	-1.38	-0.437	-0.387	.	0.054	0.0023235036798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	0	4.132e-06	0.0005	5.5e-07	1.5e-07	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.12920	T	0.203	0.27325	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.44	0.36004	L	3.63	0.04353	T	-2.45	0.53577	N	0.16	0.16725	-0.9574	0.39662	T	0.018	0.07518	T	6	0.10346818	0.19022	T	0.002324	0.04479	T	0.054	0.15330	0.571	0.69431	0.0482279557977	0.04254	0.011179449716623784	0.01077	1.77852846044	0.91373	0.588129758835	0.51229	T	0.074669	0.34994	T	-0.382476	0.03006	T	-0.787177	0.02243	T	0.0614861522662565	0.07400	T	0.380262	0.09172	T	0.13900717	0.32127	0.14321564	0.34043	0.13900717	0.32127	0.14321564	0.34042	-4.523	0.31188	T	.	.	0.116	0.23465	B	.;.	.;.	-0.609357	0.01547	0.101	0.46413849297317122	0.03716	0.00081	0.00551	N	AEFI	0.019368	0.00666	N	-0.869148266123517	0.11581	0.5596946	-1.13919058220606	0.06963	0.3370097	1.53334039614145E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.689	-1.38	0.08554	-1.763000	0.01900	.	.	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	190	0.92594	.;.	.	.	.	.	.	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	1	0	0	0	0.025	2493.33	37	chr11	49034211	.	T	G	2493.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.01;DP=1145;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.30;MQRankSum=0.818;QD=12.47;ReadPosRankSum=0.365;SOR=0.733	GT:AD:DP:GQ:PL	0/1:100,100:200:99:2507,0,2446	19	0	1	1
chr11	50033039	50033039	C	T	exonic	OR4C45	.	unknown	UNKNOWN,	.	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365494271	0.0029	0.0023	0.0028	0.0030	0.0047	0.0029	0.0028	0.0043	0.0041	0.0006	0.0014	0.0092	0	0.0016	0.0046	0.0029	0.0028	0.0047	0.0022	0.0022	0.0019	0.0025	0.0041	0.0020	0.0019	0.0027	0.0024	0.0005	0	0.0027	0.0084	0.0002	0.0017	0.0136	0.0029	0.0019	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	3605.11	137	chr11	50033039	.	C	T	3605.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.93;DP=1494;ExcessHet=0.1072;FS=0.461;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.93;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.350;SOR=0.654	GT:AD:DP:GQ:PL	0/1:50,65:115:99:1740,0,1288	19	0	2	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:170,0,52:222:99:0|1:56375918_A_G:1672,2183,9322,0,7138,6982:56375918	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:170,0,52:222:99:0|1:56375918_A_G:1672,2183,9322,0,7138,6982:56375918	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:170,0,52:222:99:0|1:56375918_A_G:1672,2183,9322,0,7138,6982:56375918	1	0	3	1
chr11	59835884	59835884	T	C	exonic	CBLIF	.	nonsynonymous SNV	CBLIF:NM_005142:exon7:c.A997G:p.I333V,	.	.	.	.	.	.	.	.	.	.	.	1924642	not_specified|Hereditary_intrinsic_factor_deficiency	MedGen:CN169374|MONDO:MONDO:0009852,MedGen:C1394891,OMIM:261000,Orphanet:332	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.48	T	0.001	B	0.001	B	0.616	N	1.000	N	0.895	L	1.11	T	-1.028	T	0.067	T	0.061	-1.216	0.064	1.12	0.326	0.487	3.315	0.038	0.00336016779469	7.7e-05	0.000199681	5.765e-05	0.0006	8.637e-05	0	0	0	0	0	5.17e-05	8	154602	rs146744565	1.231e-05	1.231e-05	1.497e-05	9.626e-06	0.0002	7.7e-06	6.35e-06	0.0001	8.675e-05	0.0002	8.944e-05	0	0	0	0	8.993e-07	8.279e-05	0	0.0001	0.0001	0.0001	0.0001	0.0005	9.737e-05	8.252e-05	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0	0	0	0.467	0.08559	T	0.531	0.10069	T	.	.	.	.	.	.	0.615929	0.05728	N	1.203820	0.999996	0.08975	N	.	.	.	1.11	0.38883	T	0.17	0.05125	N	0.046	0.01825	-1.0275	0.21266	T	0.067	0.27502	T	10	0.025496125	0.00742	T	0.00336	0.07512	T	0.038	0.09825	.	.	0.191931220699	0.18833	0.2590255153307005	0.25816	0.100179550336	0.11320	0.34626275301	0.17371	T	.	.	.	-0.579174	0.00195	T	-0.697456	0.05966	T	0.0173259111160439	0.00472	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04238	B	.	.	0.716134	0.10854	7.528	0.25672085947885653	0.01194	0.08626	0.14529	N	AEFI	0.053313	0.09594	N	-0.811630922231624	0.13012	0.6381395	-0.772920700748837	0.15161	0.7959191	9.1781544193774E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.89	1.12	0.19700	0.526000	0.22680	1.146000	0.24443	0.665000	0.62972	0.539000	0.27259	0.884000	0.27742	0.044000	0.14658	0.0:0.2268:0.21:0.5632	3.315	0.06616	799	0.44747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1555.98	34	chr11	59835884	.	T	C	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.078;DP=828;ExcessHet=0.0000;FS=3.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.668;SOR=1.000	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1570,0,1504	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,38:109:99:0|1:61740527_G_C:681,0,1978:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,38:109:99:0|1:61740527_G_C:681,0,1978:61740527	0	0	21	0
chr11	63118837	63118837	C	T	exonic	SLC22A24	.	nonsynonymous SNV	SLC22A24:NM_173586:exon4:c.G905A:p.G302E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.044	B	0.074	B	0.544	U	1.000	N	.	.	-0.01	T	-0.958	T	0.134	T	0.04	0.910	8.704	-2.26	-0.473	-0.599	2.964	0.041	0.00549068314481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.033e-06	3.424e-06	1.506e-06	4.58e-06	0.0005	7.1e-07	4.8e-07	0.0001	7.871e-05	0	0	0	0	0	0.0005	0	1.804e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.56192	D	.	.	.	.	.	.	0.544484	0.11501	U	0.733388	1	0.08975	N	.	.	.	-0.01	0.62762	T	-1.05	0.27463	N	0.151	0.15469	-0.9584	0.39479	T	0.134	0.44836	T	9	0.10338849	0.19003	T	0.005491	0.14136	T	0.041	0.10877	0.452	0.51448	0.167679373172	0.16340	.	.	.	.	.	.	.	.	.	.	-0.281502	0.10509	T	-0.642134	0.09514	T	0.268281489610672	0.23673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08033	B	.	.	0.094196	0.04970	1.535	0.64577251232113286	0.07532	0.00300	0.01598	N	AEFBI	0.028016	0.02391	N	-1.23112767352608	0.04554	0.2057909	-1.36373046019578	0.03647	0.1705368	3.40065103288082E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.84	-2.26	0.06478	-0.595000	0.05822	-12.808000	0.00499	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2056:0.306:0.0:0.4884	2.964	0.05540	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1237.98	33	chr11	63118837	.	C	T	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.40;DP=786;ExcessHet=0.0000;FS=1.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-7.220e-01;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,48:97:99:0|1:63118837_C_T:1252,0,1119:63118837	20	0	1	0
chr11	63510501	63510502	TG	-	exonic;splicing	LGALS12;LGALS12	.	frameshift deletion	LGALS12:NM_001142537:exon4:c.414delT:p.P139Lfs*4	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.00199681	0.0006	0.0054	0.0004	0	0	0.0001	0	0	0.0003074	8	26028	rs568294193	0.0003	0.0003	0.0003	0.0003	0.0055	0.0002	0.0002	0.0048	0.0046	0.0055	0.0005	0	0	0	0.0017	0.0001	0.0005	3.478e-05	0.0015	0.0015	0.0014	0.0015	0.0049	0.0013	0.0013	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	0.0001	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	973.94	34	chr11	63510500	.	ATG	A	973.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.790e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=-1.276e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:34,26:60:99:988,0,1323	20	0	1	0
chr11	64559204	64559204	G	A	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon2:c.G463A:p.V155M	.	.	400	1116	5	1	0	7	0.0031264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.735	P	0.389	B	0.242	N	1.000	N	1.78	L	-1.45	T	-0.785	T	0.127	T	0.066	1.612	11.35	-1.41	-0.091	0.126	5.730	0.241	.	0.0095	0.0071885	0.0027	0.0253	0.0018	0	0	0.0004	0.0033	0.0004	0.0025873	400	154602	rs61744144	0.0012	0.0012	0.0012	0.0011	0.0292	0.0011	0.0011	0.0277	0.0270	0.0292	0.0024	3.841e-05	0	0	0.0075	0.0003	0.0032	0.0006	0.0081	0.0081	0.0085	0.0076	0.0265	0.0077	0.0075	0.0252	0.0246	0.0265	0	0.0048	0	0	0	0.0136	0.0005	0.0080	0.0004	0.057	0.44358	T	0.03	0.54159	D	0.735	0.42814	P	0.389	0.44119	B	0.242122	0.15689	N	0.609611	0.999998	0.08975	N	1.7	0.43825	L	-1.45	0.80899	T	-1.84	0.43149	N	0.133	0.19593	-0.7850	0.56019	T	0.127	0.43401	T	10	0.013583392	0.00288	T	.	.	.	0.241	0.54641	.	.	0.704826807829	0.70226	0.14205192489729493	0.14128	0.400906263114	0.41090	0.250800430775	0.03852	T	0.290556	0.68889	T	-0.516651	0.00460	T	-0.495986	0.22764	T	0.00299681258652026	0.00031	T	0.675332	0.33029	T	0.048425935	0.08439	0.08586936	0.19856	0.048425935	0.08439	0.08586936	0.19856	-4.698	0.33380	T	.	.	0.129	0.29283	B	.;.;.	.;.;.	1.123288	0.15092	11.58	0.97891146172726351	0.36669	0.06953	0.12979	N	AEFDBI	0.056852	0.10542	N	-0.659831005700315	0.17174	0.8815186	-0.863449103779512	0.12965	0.6699449	0.74977269259496	0.23341	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.37	-1.41	0.08473	-0.187000	0.09652	-0.985000	0.06699	0.617000	0.49538	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.235:0.3391:0.4259:0.0	5.730	0.17301	401	0.82673	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	0.04762	1962.11	33	chr11	64559204	.	G	A	1962.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=851;ExcessHet=0.1072;FS=1.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.906;SOR=0.605	GT:AD:DP:GQ:PL	0/1:39,31:70:99:704,0,954	19	0	2	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:21,4,0,0:25:99:103,0,830,166,842,1009,166,842,1009,1009	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:21,4,0,0:25:99:103,0,830,166,842,1009,166,842,1009,1009	10	0	4	0
chr11	66561293	66561293	G	A	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon16:c.G1927A:p.E643K	.	.	237	1284	1	0	0	1	0.000389257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	5.578e-05	0	0	0.0002	0	7.738e-05	0	0	5.82e-05	9	154602	rs557418428	7.278e-05	7.319e-05	7.374e-05	7.181e-05	0.0002	6.137e-05	5.721e-05	7.409e-05	6.807e-05	5.994e-05	0	0	2.53e-05	0	0.0002	8.826e-05	3.327e-05	2.347e-05	5.251e-05	5.905e-05	5.138e-05	5.368e-05	0.0002	2.555e-05	1.828e-05	1.972e-05	1.124e-05	7.213e-05	0	0	0	0	0	0	5.879e-05	0	0.0002	.	.	.	0.005	0.74150	D	0.995	0.67487	D	0.743	0.55802	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.73375	.	.	.	.	.	.	.	0.6200889	0.67927	D	.	.	.	.	.	.	.	0.669723723437	0.66693	0.6276141658004456	0.62694	.	.	0.640206933022	0.58594	T	0.380342	0.74290	T	0.491028	0.94037	D	0.650319	0.98080	D	.	.	.	0.995613	0.98457	D	0.2243752	0.45078	0.4804833	0.69913	0.2243752	0.45078	0.4804833	0.69913	-12.273	0.86155	D	.	.	0.583	0.68326	P	.;.	.;.	4.823355	0.78580	26.9	0.99935275793503442	0.99579	0.98742	0.86270	D	AEFDGBI	0.945476	0.95383	D	.	.	.	.	.	.	0.99999998978442	0.74766	0.256867	0.04430	0	0.060609	0.00678	0	0.320204	0.05785	0	0.062806	0.01542	0	.	.	4.64	4.64	0.57399	10.003000	0.99689	9.944000	0.82678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.041	0.71452	59	0.97452	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	994.98	90	chr11	66561293	.	G	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1699;ExcessHet=0.0000;FS=0.807;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.34;SOR=0.588	GT:AD:DP:GQ:PL	0/1:51,37:88:99:1009,0,1271	20	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,38:101:99:.:.:211,0,985	8	0	12	1
chr11	68157930	68157930	G	A	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.C1900T:p.L634F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.994	D	0.004	N	1.000	D	0.805	L	0.79	T	-0.793	T	0.190	T	0.442	2.969	15.90	5.71	2.710	4.994	13.092	0.154	0.0257435610724	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176061323	2.052e-06	2.052e-06	4.084e-06	0	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.577	0.08594	T	.	.	.	.	.	.	0.003887	0.34365	N	0.233514	0.983482	0.40020	D	.	.	.	0.79	0.49068	T	-0.43	0.14390	N	0.459	0.49602	-0.7928	0.55566	T	0.190	0.54168	T	10	0.2975745	0.47318	T	0.025744	0.48703	D	0.154	0.40340	0.177	0.08379	0.102598925029	0.09809	0.19372614805189575	0.19290	0.845297082271	0.68270	0.449293255806	0.31847	T	.	.	.	-0.0565677	0.43443	T	-0.319032	0.42680	T	0.691178319495112	0.40302	D	0.887611	0.61581	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33458	B	.;.	.;.	3.201282	0.43535	21.8	0.99852266826946989	0.93102	0.97807	0.77277	D	AEFBI	0.530181	0.55098	D	0.44768690777401	0.64071	4.653683	0.431406667905196	0.63533	4.588749	0.96700410522018	0.28945	0.706548	0.73137	0	0.708844	0.79440	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	5.092000	0.64344	6.573000	0.55973	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.073:0.0:0.927:0.0	13.092	0.58587	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2478.98	34	chr11	68157930	.	G	A	2478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.194e+00;DP=882;ExcessHet=0.0000;FS=3.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.055e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/1:91,94:185:99:2493,0,2523	20	0	1	0
chr11	68158079	68158079	T	C	exonic	KMT5B	.	nonsynonymous SNV	KMT5B:NM_001369429:exon10:c.A1751G:p.N584S	.	.	426	1093	3	0	0	3	0.00137049	.	.	1166017	KMT5B-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.049	B	0.012	B	0.000	N	1.000	D	0.345	N	1.11	T	-1.026	T	0.045	T	0.004	-0.160	3.220	1.53	0.317	2.882	8.659	0.116	0.00684216355873	0.0036	0.000599042	0.0028	0.0010	0.0017	0	0.0005	0.0044	0	0.0010	0.0028137	435	154602	rs144458991	0.0042	0.0042	0.0043	0.0041	0.0048	0.0041	0.0041	0.0047	0.0047	0.0007	0.0021	0.0112	0.0002	0.0008	0.0007	0.0048	0.0043	0.0006	0.0030	0.0030	0.0033	0.0027	0.0048	0.0028	0.0027	0.0044	0.0042	0.0010	0.0110	0.0016	0.0112	0.0002	0.0005	0.0034	0.0048	0.0043	0.0006	0.852	0.02725	T	0.484	0.11760	T	.	.	.	.	.	.	0.000374	0.45194	N	0.271361	0.974029	0.25514	N	.	.	.	1.11	0.38883	T	-0.54	0.16598	N	0.027	0.01658	-1.0257	0.21853	T	0.045	0.19275	T	10	0.0038720071	0.00073	T	0.006842	0.18093	T	0.116	0.32463	.	.	0.043077524339	0.03247	0.028166723049872104	0.02766	0.183051395071	0.20588	0.36893209815	0.20678	T	.	.	.	-0.636157	0.00088	T	-0.684238	0.06728	T	0.00811326173826174	0.00097	T	0.854315	0.54093	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02228	B	.;.	.;.	0.915677	0.12904	9.413	0.59651277209332054	0.06274	0.70985	0.34820	D	AEFGBI	0.067377	0.13243	N	-0.761395207329862	0.14326	0.7126889	-0.620821909747217	0.18958	1.015108	0.0365862407972882	0.14251	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.32	1.53	0.22224	2.904000	0.48417	0.249000	0.16404	0.519000	0.23678	1.000000	0.71638	0.046000	0.21717	0.963000	0.52385	0.0:0.361:0.0:0.639	8.659	0.33243	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2769.98	34	chr11	68158079	.	T	C	2769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.180e-01;DP=918;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.397;SOR=0.735	GT:AD:DP:GQ:PL	0/1:117,107:224:99:2784,0,3262	20	0	1	0
chr11	72686130	72686130	C	T	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon30:c.G3296A:p.R1099Q	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.742	P	0.000	D	0.898	N	0	N	0.94	T	-1.063	T	0.080	T	0.259	5.042	29.9	4.18	2.673	3.025	7.934	0.070	0.0107401354773	.	.	8.341e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs756876924	6.157e-06	6.156e-06	8.168e-06	4.126e-06	0.0003	2.9e-06	2.1e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	6.295e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.017	0.51248	D	0.003	0.76473	D	0.999	0.77913	D	0.742	0.55764	P	0.000094	0.51296	D	0.074742	0.978537	0.27759	N	0.805	0.20218	L	0.94	0.43672	T	-1.74	0.48354	N	0.506	0.53796	-1.0635	0.10902	T	0.080	0.31824	T	10	0.25214088	0.42563	T	0.01074	0.27620	T	0.070	0.20419	0.401	0.43081	0.665552289088	0.66274	0.6547691998034708	0.65412	0.562294697324	0.52714	0.483384788036	0.36523	T	0.034304	0.47142	T	-0.144245	0.29216	T	-0.444975	0.28253	T	0.677717208862305	0.39685	D	0.943806	0.78763	D	0.15392233	0.34866	0.07926195	0.17828	0.15392233	0.34865	0.07926195	0.17827	-3.787	0.20685	T	.	.	0.114	0.34272	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.623185	0.73436	26.0	0.99937005142603275	0.99661	0.70787	0.34736	D	AEFDBCI	0.249583	0.36978	N	0.262029979953315	0.54236	3.589747	0.356584210818957	0.58905	4.064169	0.999988789230706	0.51787	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	4.18	0.48473	4.211000	0.58304	3.307000	0.37431	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.7902:0.0:0.2098	7.934	0.29080	441	0.80015	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1502.98	36	chr11	72686130	.	C	T	1502.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=885;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-4.720e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1517,0,1261	20	0	1	0
chr11	72841497	72841497	A	C	exonic	FCHSD2	.	nonsynonymous SNV	FCHSD2:NM_014824:exon18:c.T2013G:p.D671E,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.000	D	1.000	D	0.145	N	2.71	T	-0.968	T	0.016	T	0.11	3.837	19.49	-2.54	-0.378	-0.439	13.604	0.163	0.00500572253991	.	.	.	.	.	.	.	.	.	.	.	.	.	rs369315223	2.056e-06	2.052e-06	2.726e-06	1.378e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.26192	T	0.709	0.12142	T	0.0	0.02946	B	0.001	0.04355	B	0.000336	0.45700	D	0.181304	1	0.81001	D	0.955	0.23872	L	2.59	0.13317	T	-0.28	0.37375	N	0.162	0.21969	-0.9683	0.37551	T	0.016	0.06425	T	10	0.07242155	0.10809	T	0.005006	0.12629	T	0.163	0.42028	0.129	0.03412	0.318133320967	0.31420	0.3423490459826684	0.34147	0.225144669381	0.25054	0.545464932919	0.45217	T	0.021289	0.16605	T	-0.331049	0.06033	T	-0.713305	0.05126	T	0.0833168886923528	0.10405	T	0.730727	0.36163	T	0.054303944	0.10398	0.057469513	0.10451	0.054303944	0.10398	0.057469513	0.10451	-2.442	0.05397	T	.	.	0.075	0.36495	B	.;.;.;.;.	.;.;.;.;.	0.747037	0.11166	7.805	0.99640533234230255	0.76633	0.30917	0.24205	N	AEFBI	0.104542	0.20914	N	-0.866139380447929	0.11655	0.5636381	-0.757606359198587	0.15535	0.817522	0.99089765402579	0.32304	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.66	-2.54	0.05941	-0.431000	0.07034	-1.045000	0.06502	0.756000	0.94297	0.278000	0.25122	0.000000	0.08366	1.000000	0.97212	0.3744:0.0:0.6256:0.0	13.604	0.61505	521	0.74284	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1854.98	38	chr11	72841497	.	A	C	1854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=1002;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-8.440e-01;SOR=0.617	GT:AD:DP:GQ:PL	0/1:88,72:160:99:1869,0,2116	20	0	1	0
chr11	74492211	74492211	T	A	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A620T:p.E207V,	.	.	423	1047	49	3	0	55	0.0255933	.	.	1604921	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.949	P	0.514	P	0.000	D	1.000	D	2.31	M	-3.96	D	0.723	D	0.825	D	0.704	4.356	23.0	5.25	1.975	7.595	13.126	0.851	.	0.0018	0.00579073	0.0111	0	0.0049	0	0	0.0051	0.0041	0.0244	0.0021733	336	154602	rs141813641	0.0033	0.0032	0.0027	0.0040	0.0253	0.0032	0.0032	0.0244	0.0240	0.0004	0.0041	0.0149	5.596e-05	0.0003	0.0179	0.0016	0.0052	0.0253	0.0032	0.0032	0.0025	0.0040	0.0247	0.0030	0.0029	0.0211	0.0197	0.0004	0	0.0095	0.0104	0	0.0004	0.0170	0.0022	0.0057	0.0247	0.033	0.44358	D	0.034	0.52727	D	0.949	0.53761	P	0.514	0.48013	P	0.000027	0.55875	D	0.117372	1	0.81001	D	3.005	0.85968	M	-3.96	0.96208	D	-5.5	0.85844	D	0.354	0.39558	0.723	0.93464	D	0.825	0.94111	D	10	0.008795619	0.00199	T	.	.	.	0.851	0.95396	.	.	0.475741759771	0.47203	0.9365910790192148	0.93639	.	.	0.341749250889	0.16700	T	0.148517	0.48710	T	0.00168011	0.51886	T	0.248561	0.85553	D	0.0968409808715536	0.12005	T	0.839416	0.51368	T	0.42203003	0.62227	0.37563127	0.62703	0.42203003	0.62227	0.37563127	0.62703	-11.143	0.80436	D	0.2682583130442304	0.36129	0.451	0.62236	A	.	.	4.814382	0.78358	26.9	0.99324259331765385	0.59507	0.96832	0.71180	D	AEFDGBCIJ	0.885805	0.81665	D	0.584661802933608	0.72217	5.771062	0.592416165450865	0.74393	6.129732	0.999999999999988	0.74766	0.660085	0.49399	0	0.627608	0.54475	0	0.662677	0.59975	0	0.563494	0.21769	0	.	.	5.25	5.25	0.73169	7.602000	0.82038	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.0:1.0	13.126	0.58773	343	0.85802	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	6688.68	33	chr11	74492211	.	T	A	6688.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.720e+00;DP=1161;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.142;SOR=0.704	GT:AD:DP:GQ:PL	0/1:84,86:170:99:2223,0,2164	18	0	3	0
chr11	74618680	74618680	C	T	exonic	POLD3	.	nonsynonymous SNV	POLD3:NM_001363597:exon6:c.C419T:p.P140L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	P	0.626	P	0.002	N	1.000	D	1.95	M	.	.	-0.651	T	0.262	T	0.355	3.345	17.26	5.27	2.750	1.880	16.440	0.114	0.00908830427736	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs749927729	9.577e-06	9.577e-06	4.084e-06	1.513e-05	0.0002	5.56e-06	4.35e-06	3.765e-05	2.662e-05	0	2.236e-05	0	0	0	0.0002	4.496e-06	0	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.58626	D	0.145	0.41913	T	0.925	0.51395	P	0.626	0.51600	P	0.001631	0.38439	N	0.263469	0.999952	0.58761	D	2.4	0.69460	M	.	.	.	-2.13	0.51811	N	0.179	0.19325	-0.6507	0.62684	T	0.262	0.63253	T	8	0.20224983	0.36337	T	0.009088	0.23917	T	0.114	0.32008	0.427	0.47350	0.279809986126	0.27602	0.1617480708777517	0.16095	0.14978819683	0.16892	0.311550855637	0.12141	T	0.181523	0.53322	T	-0.0840908	0.39046	T	-0.261713	0.48653	T	0.661208391189575	0.38949	D	0.80142	0.49436	T	0.07517062	0.16919	0.0840114	0.19296	0.07517062	0.16918	0.0840114	0.19295	-4.292	0.28065	T	.	.	0.07	0.12084	B	.;.;.;.	.;.;.;.	3.179651	0.43155	21.7	0.99795829513380963	0.88106	0.60146	0.31113	D	AEFDGBI	0.306546	0.41367	N	0.156689492895047	0.49129	3.116797	0.0989279347226422	0.44495	2.730163	0.999987328304434	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	2.211000	0.42465	3.293000	0.37321	0.549000	0.26987	0.018000	0.19461	0.998000	0.33993	0.609000	0.31615	0.0:1.0:0.0:0.0	16.440	0.83736	313	0.87327	.;.;.;.	.	.	.	.	.	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	0.02381	1654.98	39	chr11	74618680	.	C	T	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.434e+00;DP=875;ExcessHet=0.0000;FS=0.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=0.306;SOR=0.576	GT:AD:DP:GQ:PL	0/1:43,63:106:99:1669,0,1157	20	0	1	0
chr11	77102945	77102945	G	A	exonic	OMP	.	nonsynonymous SNV	OMP:NM_006189:exon1:c.G106A:p.G36R,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.642	P	0.161	B	.	.	1.000	D	0.805	L	1.17	T	-1.097	T	0.018	T	0.175	3.625	18.44	4.13	2.675	2.093	4.785	0.084	.	0.0107	0.0091853	0.0029	0.0348	0.0010	0	0	9.262e-05	0.0012	0.0001	0.0028072	434	154602	rs2233548	0.0010	0.0010	0.0012	0.0009	0.0365	0.0010	0.0009	0.0348	0.0341	0.0365	0.0013	0	0	0	0.0010	7.105e-05	0.0017	4.637e-05	0.0094	0.0094	0.0097	0.0091	0.0330	0.0090	0.0088	0.0316	0.0310	0.0330	0	0.0024	0	0	0	0	2.94e-05	0.0080	0.0004	0.006	0.61437	D	0.02	0.58613	D	0.642	0.40458	P	0.161	0.34794	B	.	.	.	.	1	0.81001	D	1.495	0.37439	L	1.17	0.37910	T	-4.43	0.77554	D	0.316	0.35620	-1.0970	0.04474	T	0.018	0.07659	T	9	0.004181236	0.00083	T	.	.	.	0.084	0.24469	0.189	0.09907	0.0551355673512	0.04727	0.14134222086519388	0.14057	0.508907322124	0.49035	0.398636013269	0.24879	T	0.237135	0.60475	T	-0.470607	0.00843	T	-0.423009	0.30732	T	0.0521805359844833	0.05879	T	0.779322	0.41328	T	0.31656313	0.54348	0.4309124	0.66726	0.31656313	0.54348	0.4309124	0.66726	-2.058	0.03408	T	.	.	0.204	0.42976	B	.	.	3.651815	0.51831	23.2	0.99916601443515773	0.98449	0.58885	0.30763	D	AEFDGBI	0.094862	0.19173	N	0.083943397921915	0.45715	2.823383	0.186814847202179	0.49125	3.11945	0.985133884994672	0.30834	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.12	4.13	0.47661	1.490000	0.35181	5.613000	0.49061	0.676000	0.76740	0.273000	0.25075	1.000000	0.68203	0.769000	0.36481	0.252:0.0:0.748:0.0	4.785	0.12591	526	0.73951	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1153.98	34	chr11	77102945	.	G	A	1153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-5.800e-02;SOR=0.627	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1168,0,1195	20	0	1	0
chr11	77179124	77179124	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon20:c.G2362A:p.G788R	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	947686	Usher_syndrome_type_1B|not_provided	MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.002	B	0.002	N	1.000	N	-1.01	N	-0.4	T	-1.030	T	0.073	T	0.101	-0.303	2.557	2.96	1.038	1.196	5.665	0.054	0.0434217532097	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174297656	2.764e-06	3.42e-06	1.372e-06	4.177e-06	2.562e-05	6.5e-07	4.4e-07	.	.	0	2.32e-05	0	2.562e-05	0	0	9.046e-07	0	1.196e-05	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.534	0.06935	T	0.59	0.08535	T	0.0	0.02946	B	0.002	0.06944	B	0.002195	0.37053	N	0.228496	0.999998	0.08975	N	-1.425	0.00578	N	-0.4	0.69287	T	1.1	0.01280	N	0.262	0.29889	-1.0296	0.20583	T	0.073	0.29483	T	10	0.04524219	0.03571	T	0.043422	0.60977	D	0.054	0.15330	0.427	0.47350	0.552326942858	0.54890	0.5580542470242102	0.55732	0.10106423559	0.11422	0.373134732246	0.21280	T	0.136554	0.46899	T	-0.209625	0.19432	T	-0.538888	0.18406	T	0.114232853055	0.13857	T	0.90111	0.69728	D	0.0779042	0.17710	0.07993205	0.18038	0.0779042	0.17709	0.07993205	0.18038	-11.329	0.81431	D	0.05300820745509163	0.01049	0.148	0.32589	B	.;.;.;.;.	.;.;.;.;.	2.454203	0.31607	18.79	0.48862887033006097	0.04113	0.17301	0.19777	N	AEFDBI	0.273884	0.38919	N	-1.00029221102829	0.08598	0.4037377	-0.865544141366955	0.12914	0.6670749	0.999954028505916	0.48110	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.87	2.96	0.33383	0.741000	0.25870	5.864000	0.50463	0.601000	0.45875	0.000000	0.06391	0.994000	0.32194	0.962000	0.52141	0.1683:0.168:0.6636:0.0	5.665	0.16963	604	0.67577	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;.;.;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1181.98	34	chr11	77179124	.	G	A	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=805;ExcessHet=0.0000;FS=9.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=1.76;SOR=0.995	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1196,0,1087	20	0	1	0
chr11	78073127	78073127	G	A	exonic	NDUFC2;NDUFC2-KCTD14	.	nonsynonymous SNV	NDUFC2-KCTD14:NM_001203260:exon2:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.91	D	0.002	N	1.000	D	1.87	L	0.52	T	-0.614	T	0.294	T	0.621	2.209	13.34	5.41	2.826	2.370	18.129	0.207	0.0152927396069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.056	0.49390	T	0.981	0.59675	D	0.91	0.64641	D	0.001730	0.38161	N	0.225304	0.997377	0.81001	D	1.24	0.30952	L	0.52	0.55266	T	-1.81	0.45222	N	0.298	0.39861	-0.6135	0.64258	T	0.294	0.66536	T	10	0.3948178	0.55150	T	0.015293	0.35936	T	0.207	0.49555	0.713	0.84872	0.422404719673	0.41854	0.39554031383581617	0.45522	1.60170403797	0.88696	0.471053600311	0.34825	T	0.012824	0.22643	T	0.0064378	0.52540	T	-0.228529	0.51914	T	0.894019484519958	0.54533	D	0.711729	0.32279	T	0.26298738	0.58596	0.3322656	0.59435	0.26298738	0.58596	0.3322656	0.59434	-4.531	0.31292	T	.	.	0.393	0.60035	A	.;.;.;.;.	.;.;.;.;.	2.988644	0.39896	21.1	0.99742894030052776	0.83629	0.83901	0.42992	D	AEFBI	0.434239	0.49537	N	0.535680113664548	0.69216	5.325468	0.504055823415607	0.68263	5.195942	0.99999788602083	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	5.41	0.78313	1.816000	0.38630	7.553000	0.60314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.0:0.0:1.0:0.0	18.129	0.89525	601	0.67921	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	241.89	39	chr11	78073127	.	G	C,A	241.89	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=-6.900e-02;DP=670;ExcessHet=1.2264;FS=167.558;InbreedingCoeff=-0.2704;MLEAC=5,3;MLEAF=0.192,0.115;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=0.524;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,11,0:22:47:.:.:47,0,127,77,155,231	8	0	3	8
chr11	82732913	82732913	C	T	exonic	FAM181B	.	nonsynonymous SNV	FAM181B:NM_175885:exon1:c.G817A:p.G273S,	.	.	408	1086	27	1	0	29	0.0131758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.017	B	0.046	N	0.996	N	0.145	N	1.63	T	-1.018	T	0.022	T	0.128	0.326	5.765	1.11	0.354	0.569	6.319	0.014	.	0.0031	0.00399361	0.0157	0.0041	0.0227	0	0.0078	0.0246	0.0143	0.0102	0.0034734	537	154602	rs142346160	0.0052	0.0052	0.0051	0.0054	0.0095	0.0051	0.0051	0.0075	0.0068	0.0006	0.0029	0.0144	2.773e-05	0.0071	0.0095	0.0052	0.0050	0.0075	0.0041	0.0041	0.0042	0.0041	0.0075	0.0038	0.0037	0.0055	0.0049	0.0007	0.0022	0.0027	0.0158	0	0.0074	0.0136	0.0055	0.0047	0.0075	0.151	0.24564	T	0.328	0.18675	T	0.093	0.25333	B	0.017	0.18140	B	0.045942	0.23486	N	0.414096	0.995739	0.23214	N	0.2	0.09183	N	1.63	0.28002	T	-0.21	0.10308	N	0.072	0.04547	-1.0179	0.24398	T	0.022	0.09284	T	9	0.003020376	0.00049	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.09454608370646181	0.09386	0.798905593079	0.66152	0.801437079906	0.82182	T	0.001729	0.01158	T	-0.617847	0.00113	T	-0.656405	0.08510	T	0.00480462648573201	0.00052	T	0.549145	0.18877	T	0.045748696	0.07541	0.074790746	0.16396	0.045748696	0.07541	0.074790746	0.16396	-4.421	0.29840	T	.	.	0.089	0.11989	B	.	.	1.381611	0.17928	13.45	0.96065594642874486	0.28605	0.61719	0.31567	D	AEFDBCI	0.085348	0.17302	N	-0.88983826427581	0.11083	0.5329738	-0.809113044060558	0.14275	0.7450502	0.79638522059897	0.24107	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.59	1.11	0.19640	0.312000	0.19147	0.461000	0.18618	-0.369000	0.05453	0.998000	0.41325	0.803000	0.26967	0.639000	0.32395	0.1388:0.6167:0.0:0.2445	6.319	0.20413	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	0	0	0	1	0	0	0	0.02381	730.98	43	chr11	82732913	.	C	T	730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=896;ExcessHet=0.0000;FS=3.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-4.900e-02;SOR=1.402	GT:AD:DP:GQ:PL	0/1:28,28:56:99:745,0,619	20	0	1	0
chr11	89284805	89284805	C	T	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.C1217T:p.P406L,	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	YES	1	1500	18	3	0	24	0.00793651	.	.	18816	Oculocutaneous_albinism|Ocular_albinism_with_congenital_sensorineural_hearing_loss|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Tyrosinase-negative_oculocutaneous_albinism|Oculocutaneous_albinism_type_1B|Abnormality_of_the_skin|not_provided|TYR-related_disorder|Hearing_impairment|Inborn_genetic_diseases	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:CN028925|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000365,Human_Phenotype_Ontology:HP:0000404,Human_Phenotype_Ontology:HP:0001728,Human_Phenotype_Ontology:HP:0001729,Human_Phenotype_Ontology:HP:0001754,Human_Phenotype_Ontology:HP:0008560,Human_Phenotype_Ontology:HP:0008563,MONDO:MONDO:0005365,MedGen:C1384666|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	1.0	D	0.997	D	0.000	D	1.000	A	2.505	M	-5.19	D	1.097	D	0.968	D	0.877	4.485	24.0	4.68	2.166	7.381	17.625	0.921	0.544949560015	0.0036	0.00199681	0.0035	0.0007	0.0011	0.0002	0.0099	0.0045	0.0022	0.0019	0.0005821	90	154602	rs104894313	0.0046	0.0047	0.0047	0.0045	0.0056	0.0045	0.0045	0.0047	0.0047	0.0005	0.0018	0.0091	5.043e-05	0.0107	0.0056	0.0048	0.0046	0.0020	0.0037	0.0037	0.0033	0.0041	0.0045	0.0034	0.0033	0.0041	0.0039	0.0011	0	0.0027	0.0092	0	0.0108	0	0.0045	0.0052	0.0029	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.365	0.91266	M	-5.19	0.98838	D	-4.3	0.76496	D	0.875	0.87265	1.097	0.99552	D	0.968	0.98993	D	8	0.037014306	0.02032	T	0.54495	0.95779	D	0.921	0.98003	.	.	0.995345409781	0.99529	0.8822665376559435	0.88194	0.0594517113591	0.06608	0.474457263947	0.35295	T	0.833823	0.96059	D	0.172752	0.71376	D	0.477013	0.94154	D	0.0204034174202131	0.00740	T	0.791921	0.43319	T	0.47709885	0.65724	0.3593413	0.61395	0.47709885	0.65724	0.3593413	0.61394	-10.302	0.75700	D	0.6564132779359806	0.72927	0.234	0.46756	B	.	.	4.758256	0.76898	26.6	0.99867932480707045	0.94547	0.97660	0.76227	D	AEFGI	0.928006	0.91155	D	0.700133257746569	0.79642	7.120714	0.63572376952635	0.77551	6.701336	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.416000	0.79356	7.705000	0.66497	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.625	0.87992	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	381.98	40	chr11	89284805	.	C	T	381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=764;ExcessHet=0.0000;FS=7.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.64;MQRankSum=-4.850e+00;QD=8.13;ReadPosRankSum=0.434;SOR=2.026	GT:AD:DP:GQ:PL	0/1:32,15:47:99:396,0,809	20	0	1	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.924	P	0.649	P	0.001	D	0.906	D	1.1	L	1.33	T	-1.000	T	0.090	T	0.504	2.394	13.96	4.98	1.502	4.230	10.392	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	351.81	55	chr11	94618061	.	G	C	351.81	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.574e+00;DP=1213;ExcessHet=1.7912;FS=147.073;InbreedingCoeff=-0.2177;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.407;SOR=10.626	GT:AD:DP:GQ:PL	0/1:28,13:41:72:72,0,332	14	0	6	1
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,45,0:98:99:.:.:1569,0,1986,1727,2123,3850	0	17	3	0
chr11	102611773	102611773	T	G	exonic	MMP20	.	nonsynonymous SNV	MMP20:NM_004771:exon3:c.A505C:p.I169L,	Amelogenesis imperfecta, type IIA2, Autosomal recessive	.	0	1484	35	3	0	41	0.0136258	.	.	324470	not_provided|Amelogenesis_imperfecta_hypomaturation_type_2A2	MedGen:C3661900|MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.003	B	0.424	B	0.001	D	0.999	D	2.35	M	1.51	T	-1.040	T	0.010	T	0.154	3.496	17.87	1.82	0.147	1.366	9.067	0.101	.	0.0066	0.0273562	0.0132	0.0103	0.0032	0.0905	0	0.0028	0.0121	0.0291	0.0124966	1932	154602	rs17099008	0.0075	0.0075	0.0069	0.0081	0.0832	0.0073	0.0073	0.0808	0.0798	0.0120	0.0028	0.0002	0.0832	0.0001	0.0078	0.0036	0.0082	0.0288	0.0095	0.0095	0.0089	0.0100	0.0821	0.0091	0.0089	0.0756	0.0731	0.0124	0.0373	0.0046	0.0003	0.0821	0.0003	0.0068	0.0035	0.0080	0.0284	0.003	0.68238	D	0.051	0.47828	T	0.003	0.11197	B	0.424	0.45210	B	0.000848	0.41440	D	0.267929	0.998964	0.45775	D	1.965	0.53209	M	1.51	0.30937	T	-1.85	0.43334	N	0.145	0.14622	-1.0405	0.17162	T	0.010	0.03673	T	10	0.0022335649	0.00032	T	.	.	.	0.101	0.28911	0.739	0.87147	.	.	0.7443420672079913	0.74380	0.0959658060652	0.10830	0.469243943691	0.34576	T	0.09987	0.40511	T	-0.570989	0.00218	T	-0.521782	0.20114	T	0.0378741418454267	0.03310	T	0.882612	0.60317	D	0.6179698	0.73655	0.4395777	0.67305	0.74831414	0.80771	0.4293998	0.66623	-6.117	0.47248	T	0.2241891874147531	0.30273	0.317	0.54265	B	.	.	3.215316	0.43783	21.8	0.99052178842528649	0.51275	0.70799	0.34741	D	AEFGBCI	0.293574	0.40416	N	-0.228406973005845	0.31971	1.798246	-0.173602641907642	0.32511	1.850358	0.996210304616188	0.34598	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	1.82	0.24209	1.731000	0.37758	3.423000	0.38265	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2124:0.0:0.7876	9.067	0.35630	809	0.43032	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	350.98	38	chr11	102611773	.	T	G	350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=720;ExcessHet=0.0000;FS=1.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.244e+00;SOR=1.179	GT:AD:DP:GQ:PL	0/1:15,13:28:99:365,0,395	20	0	1	0
chr11	108838459	108838459	C	T	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon14:c.C1979T:p.S660F,	.	.	442	1073	7	0	0	7	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.921	D	0.069	N	0.999	D	1.935	M	0.91	T	-0.693	T	0.232	T	0.461	4.196	21.8	5.72	2.695	4.431	16.596	0.226	0.015048755816	0.0003	0.000399361	0.0004	0	0	0	0	0.0006	0.0023	0.0006	0.000401	62	154602	rs138955971	0.0004	0.0004	0.0004	0.0004	0.0098	0.0004	0.0003	0.0077	0.0069	6.005e-05	0.0002	0.0015	0	0	0.0098	0.0003	0.0005	0.0007	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0	0	0.0003	0.0014	0	0	0.0102	0.0003	0.0009	0.0004	0.014	0.53172	D	0.038	0.51421	D	0.998	0.73220	D	0.921	0.65636	D	0.068742	0.21651	N	0.467301	0.999321	0.46670	D	1.7	0.43825	L	0.91	0.44856	T	-2.5	0.54382	D	0.518	0.54845	-0.6933	0.60754	T	0.232	0.59794	T	10	0.043691903	0.03246	T	0.015049	0.35554	T	0.226	0.52472	.	.	0.627942663015	0.62490	0.04387403381389378	0.04331	0.283620578612	0.30797	0.416328191757	0.27331	T	0.166788	0.51317	T	-0.331084	0.06030	T	-0.341091	0.40220	T	0.1004618704319	0.12408	T	0.833317	0.50212	T	0.21020064	0.43309	0.23345849	0.48536	0.21020064	0.43309	0.23345849	0.48535	-5.28	0.39744	T	.	.	0.121	0.37727	B	.;.	.;.	4.746124	0.76591	26.5	0.99806204698875323	0.89085	0.96841	0.71229	D	AEFGBI	0.641600	0.61888	D	0.699365744334324	0.79592	7.110019	0.709360888505876	0.83091	7.931205	0.999989584597953	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	5.72	0.89380	4.922000	0.63103	4.844000	0.45312	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.596	0.84648	869	0.31655	.;.	.	.	.	.	.	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	0.02381	820.98	40	chr11	108838459	.	C	T	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=774;ExcessHet=0.0000;FS=2.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-8.470e-01;SOR=0.757	GT:AD:DP:GQ:PL	0/1:35,33:68:99:835,0,849	20	0	1	0
chr11	113396141	113396141	T	C	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon5:c.T757C:p.W253R,	Dopamine receptor D2, reduced brain density of (3)	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.143	B	0.114	B	0.011	U	0.655	D	0.58	N	-1.59	D	-0.729	T	0.278	T	0.13	-0.783	0.722	3.31	0.730	2.206	7.017	0.234	0.0384940449746	0.0011	0.00139776	0.0022	0.0002	0.0009	0	0.0017	0.0034	0.0022	0.0012	0.0021216	328	154602	rs201098042	0.0023	0.0023	0.0023	0.0022	0.0026	0.0022	0.0022	0.0025	0.0025	0.0002	0.0017	0.0008	0	0.0015	0.0003	0.0026	0.0021	0.0016	0.0021	0.0021	0.0023	0.0019	0.0071	0.0019	0.0018	0.0060	0.0056	0.0003	0.0011	0.0071	0.0006	0	0.0013	0	0.0025	0.0052	0.0012	0.98	0.02008	T	0.881	0.03214	T	0.143	0.27649	B	0.114	0.31755	B	0.011419	0.29543	U	0.166462	0.65492	0.32998	D	0.43	0.12624	N	-1.59	0.82076	D	-0.88	0.23808	N	0.181	0.19593	-0.7285	0.59039	T	0.278	0.64946	T	10	0.01052019	0.00234	T	0.038494	0.58257	D	0.234	0.53644	0.746	0.87738	0.435808882951	0.43200	0.42229941682698674	0.42146	0.105962483001	0.11982	0.385882377625	0.23087	T	0.100885	0.40711	T	-0.44911	0.01143	T	-0.422196	0.30822	T	0.0134395903315166	0.00244	T	0.373163	0.08852	T	0.055764724	0.10883	0.05946892	0.11167	0.055764724	0.10883	0.05946892	0.11167	-8.257	0.62808	D	.	.	0.435	0.61465	A	.	.	1.672183	0.21320	15.15	0.19248865700561457	0.00641	0.83110	0.42256	D	AEFBI	0.192320	0.31949	N	-0.89612337514483	0.10934	0.5250336	-0.817334142442949	0.14075	0.733596	0.230481585105612	0.18459	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.44	3.31	0.37025	2.182000	0.42186	1.824000	0.29063	-0.184000	0.09925	0.984000	0.35821	0.991000	0.31484	0.008000	0.08271	0.0:0.1794:0.0:0.8206	7.017	0.24074	857	0.34089	Serine-threonine/tyrosine-protein kinase, catalytic 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	0	0	0	0	0	0	0	0	0	0	0	0.02381	798.98	40	chr11	113396141	.	T	C	798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.627e+00;DP=790;ExcessHet=0.0000;FS=6.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.800e+00;SOR=1.483	GT:AD:DP:GQ:PL	0/1:36,35:71:99:813,0,969	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,119:119:99:.:.:5036,5036,5036,363,363,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,119:119:99:.:.:5036,5036,5036,363,363,0	1	0	0	0
chr11	124250357	124250357	A	G	exonic	OR8G1	.	nonsynonymous SNV	OR8G1:NM_001002905:exon1:c.A682G:p.I228V,	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00206457980803	.	.	8.284e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs201337998	3.284e-05	3.283e-05	2.723e-05	3.851e-05	0.0049	2.544e-05	2.249e-05	0.0035	0.0030	8.964e-05	0	0	0	0	0.0049	8.095e-06	8.282e-05	3.478e-05	2.632e-05	2.628e-05	1.286e-05	4.043e-05	6.563e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.418e-05	0	6.563e-05	0	0	0	0	2.942e-05	0	0	.	.	.	0.017	0.60337	D	0.994	0.66517	D	0.912	0.64797	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.18512	.	.	.	.	.	.	.	0.29946876	0.47499	T	0.002065	0.03775	T	.	.	.	.	0.303781844768	0.29979	0.03526639363846512	0.03473	.	.	0.256827145815	0.04520	T	0.016569	0.13673	T	-0.0382702	0.46205	T	-0.277263	0.47083	T	.	.	.	0.792521	0.43410	T	0.057245098	0.11369	0.16767995	0.38671	0.057245098	0.11369	0.16767995	0.38670	-6.861	0.53011	T	.	.	0.184	0.39865	B	.;.	.;.	1.797948	0.22853	15.79	0.73273820769660569	0.10269	0.27256	0.23226	N	AEFBI	0.155853	0.28112	N	.	.	.	.	.	.	0.344079308713386	0.19613	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.058706	0.01089	0	.	.	2.88	2.88	0.32617	0.190000	0.16864	.	.	0.506000	0.23061	0.000000	0.06391	0.974000	0.29927	0.001000	0.02609	1.0:0.0:0.0:0.0	11.626	0.50403	751	0.51694	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1663.98	170	chr11	124250357	.	A	G	1663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.535e+00;DP=2582;ExcessHet=0.0000;FS=0.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-2.215e+00;SOR=0.594	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1678,0,2096	20	0	1	0
chr11	125079203	125079203	T	C	exonic	SLC37A2	.	nonsynonymous SNV	SLC37A2:NM_001145290:exon5:c.T406C:p.Y136H	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.654	P	0.287	B	0.000	D	0.998	D	2.675	M	0.29	T	-0.585	T	0.240	T	0.702	3.710	18.84	4.75	2.000	7.843	14.097	0.261	.	.	0.00199681	0.0010	0	0.0005	0	0	1.498e-05	0.0033	0.0065	0.0008279	128	154602	rs575456106	0.0004	0.0004	0.0002	0.0005	0.0057	0.0003	0.0003	0.0053	0.0051	0	0	0	0	0	0	2.698e-06	0.0004	0.0057	0.0002	0.0002	0.0002	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	2.405e-05	0	0	0	0	0	0	0	0	0.0068	0.038	0.42783	D	0.102	0.39799	T	0.347	0.40793	B	0.248	0.40572	B	0.000020	0.62929	D	0.073236	0.998487	0.44980	D	.	.	.	0.29	0.58897	T	-2.97	0.63782	D	0.736	0.78737	-0.5853	0.65407	T	0.240	0.60845	T	10	0.012523919	0.00269	T	.	.	.	0.261	0.57352	0.585	0.71245	0.490771696789	0.48710	0.602380012081604	0.60169	0.669621661834	0.59368	0.761583685875	0.76164	T	0.445561	0.78853	T	-0.206766	0.19837	T	-0.0675855	0.65797	T	0.156898796986519	0.17640	T	0.960204	0.85028	D	0.37871772	0.59223	0.3215202	0.58100	0.37871772	0.59224	0.3215202	0.58099	-9.94	0.73552	D	.	.	0.305	0.53371	B	.;.;.	.;.;.	4.272980	0.65030	24.8	0.99734843755483726	0.83047	0.98285	0.81260	D	AEFDGBIJ	0.938453	0.93768	D	0.405304295621671	0.61712	4.376205	0.452794832062227	0.64897	4.755775	0.999999999998005	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	4.75	4.75	0.59954	8.017000	0.88732	7.821000	0.69751	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.097	0.64557	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1840.98	33	chr11	125079203	.	T	C	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=859;ExcessHet=0.0000;FS=1.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.447;SOR=0.843	GT:AD:DP:GQ:PL	0/1:73,72:145:99:1855,0,1798	20	0	1	0
chr11	126304167	126304167	G	T	exonic	DCPS	.	nonsynonymous SNV	DCPS:NM_001350236:exon1:c.G87T:p.E29D	Al-Raqad syndrome, Autosomal recessive	.	422	1091	9	0	0	9	0.00410771	.	.	491743	not_specified|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.001	B	0.071	N	1.000	N	0	N	0.87	T	-1.037	T	0.039	T	0.097	2.243	13.46	-0.628	-0.117	0.184	4.426	0.024	0.00343633897818	0.0006	0.000399361	0.0006	0.0002	0.0006	0	0.0002	0.0009	0.0011	0	0.0005951	92	154602	rs147935593	0.0005	0.0005	0.0005	0.0005	0.0127	0.0005	0.0005	0.0103	0.0095	0.0004	0.0012	0.0040	0	1.872e-05	0.0127	0.0003	0.0011	0.0002	0.0007	0.0007	0.0006	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0.0032	0	9.409e-05	0.0476	0.0006	0.0019	0.0002	0.286	0.15201	T	0.426	0.13872	T	0.0	0.02946	B	0.001	0.04355	B	0.070621	0.21526	N	0.499898	1	0.08975	N	0.41	0.12415	N	0.87	0.46412	T	-0.35	0.12847	N	0.051	0.02272	-1.0371	0.18202	T	0.039	0.16634	T	10	0.0046408176	0.00097	T	0.003436	0.07725	T	0.024	0.04979	0.457	0.52265	0.221019684889	0.21715	0.21637322015232252	0.21553	0.102527254656	0.11603	0.314933896065	0.12653	T	0.084563	0.37306	T	-0.583882	0.00183	T	-0.674862	0.07300	T	0.013055772971971	0.00228	T	0.482752	0.14626	T	0.06485345	0.13802	0.054698765	0.09458	0.06485345	0.13802	0.054698765	0.09457	-4.446	0.30176	T	.	.	0.081	0.08320	B	.	.	0.389970	0.07614	4.278	0.96148960953400253	0.28859	0.08134	0.14100	N	ALL	0.038232	0.05380	N	-1.35025201991848	0.03122	0.1389655	-1.32053767275239	0.04165	0.1958882	0.999999999956972	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.77	-0.628	0.10958	0.593000	0.23700	0.456000	0.18569	-0.272000	0.06708	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.414:0.3216:0.2643:0.0	4.426	0.10928	872	0.31118	.	.	.	.	.	.	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	1	0	0	0	0.04762	2077.08	33	chr11	126304167	.	G	T	2077.08	.	AC=2;AF=0.048;AN=42;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.47;SOR=0.957	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2105,198,0	20	1	0	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,5,0:5:15:226,15,0,226,15,226	3	7	5	0
chr12	3673464	3673464	A	T	exonic	CRACR2A	.	nonsynonymous SNV	CRACR2A:NM_001144958:exon7:c.T653A:p.L218Q	.	.	428	1082	10	2	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	0.780	D	1.7	L	1.97	T	-0.681	T	0.151	T	0.678	2.746	15.14	4.55	1.679	8.500	11.865	0.324	0.031340989727	0.0019	0.000599042	0.0018	9.61e-05	0.0020	0	0	0.0027	0.0022	0.0004	0.0016817	260	154602	rs144274217	0.0013	0.0013	0.0013	0.0013	0.0130	0.0013	0.0013	0.0106	0.0098	0.0004	0.0021	0.0310	0	1.872e-05	0.0130	0.0006	0.0032	0.0006	0.0016	0.0016	0.0015	0.0017	0.0029	0.0014	0.0014	0.0022	0.0020	0.0003	0	0.0029	0.0285	0	0	0.0340	0.0010	0.0028	0.0008	0.002	0.78490	D	0.0	0.92824	D	0.999	0.90584	D	0.987	0.77487	D	0.000001	0.62929	D	0.052067	0.779664	0.34251	D	3.07	0.87108	M	1.97	0.26588	T	-3.72	0.76980	D	0.84	0.83576	-0.6812	0.61316	T	0.151	0.47979	T	10	0.010391712	0.00231	T	0.031341	0.53444	D	0.324	0.64624	.	.	0.842805522677	0.84130	0.5434982360544246	0.54275	0.467350245832	0.46119	0.532252430916	0.43352	T	0.330346	0.70054	T	-0.227509	0.16981	T	-0.105125	0.62997	T	0.100992852795639	0.12466	T	0.928457	0.74652	D	0.7320854	0.79841	0.6412755	0.79040	0.7320854	0.79843	0.6412755	0.79041	-11.59	0.82796	D	.	.	0.372	0.57927	A	.;.	.;.	5.055976	0.84244	28.3	0.99109044399682489	0.52674	0.98326	0.81656	D	AEFDGBI	0.897588	0.83993	D	0.568687741954592	0.71225	5.618916	0.501084574439941	0.68063	5.168736	0.999652754657121	0.41424	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.55	4.55	0.55429	8.632000	0.90760	10.961000	0.84462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	1.0:0.0:0.0:0.0	11.865	0.51768	940	0.13648	.;.	.	.	.	.	.	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	0.02381	915.98	34	chr12	3673464	.	A	T	915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.606;DP=744;ExcessHet=0.0000;FS=3.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.08;ReadPosRankSum=0.151;SOR=1.464	GT:AD:DP:GQ:PL	0/1:17,31:48:99:930,0,437	20	0	1	0
chr12	4615768	4615768	G	C	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon6:c.C2533G:p.L845V	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.896	P	0.526	P	0.000	D	1.000	N	2.425	M	2.49	T	-0.970	T	0.062	T	0.785	3.566	18.18	5.8	2.738	3.342	13.190	0.224	0.00528622283595	0.0002	.	0.0008	0	0.0003	0	0	0.0010	0	0.0014	0.0006145	95	154602	rs151200001	0.0004	0.0004	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	5.974e-05	0.0003	0.0099	0	0	0.0012	0.0001	0.0007	0.0020	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	7.285e-05	3.027e-05	4.81e-05	0	0.0001	0.0075	0	0	0	8.818e-05	0	0.0004	0.078	0.33923	T	0.112	0.37037	T	0.896	0.49324	P	0.526	0.48415	P	0.000156	0.49130	D	0.000000	0.551603	0.31329	N	2.71	0.79292	M	2.49	0.14531	T	-2.4	0.52776	N	0.575	0.64223	-0.9700	0.37200	T	0.062	0.25672	T	10	0.015747458	0.00331	T	0.005286	0.13494	T	0.224	0.52174	.	.	0.468834750356	0.46508	0.6717511988305197	0.67113	0.573917383262	0.53435	0.507369279861	0.39855	T	0.065623	0.32737	T	-0.213999	0.18820	T	-0.11025	0.62591	T	0.182967045438059	0.19421	T	0.727827	0.34232	T	0.4146653	0.61735	0.49875617	0.71018	0.4146653	0.61735	0.49875617	0.71019	-4.259	0.27598	T	.	.	0.254	0.48918	B	.;.	.;.	3.584871	0.50557	23.0	0.99762566633250338	0.85172	0.77178	0.37918	D	AEFBI	0.483704	0.52403	N	0.58310557368247	0.72122	5.756062	0.606942783276932	0.75442	6.311426	0.0765668961549566	0.15732	0.372202	0.05800	0	0.379588	0.06130	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.8	5.8	0.92081	3.419000	0.52486	8.462000	0.77247	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.1598:0.8402:0.0	13.190	0.59125	677	0.60274	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1158.98	33	chr12	4615768	.	G	C	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.102e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.606;SOR=0.675	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1173,0,1428	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/2:0,2,44,0,0:46:67:1829,1760,1836,135,67,0,1837,1806,142,1873,1837,1806,142,1873,1873	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/2:0,2,44,0,0:46:67:1829,1760,1836,135,67,0,1837,1806,142,1873,1837,1806,142,1873,1873	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/2:0,2,44,0,0:46:67:1829,1760,1836,135,67,0,1837,1806,142,1873,1837,1806,142,1873,1873	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	2/2:0,2,44,0,0:46:67:1829,1760,1836,135,67,0,1837,1806,142,1873,1837,1806,142,1873,1873	0	0	0	0
chr12	8059056	8059056	C	T	exonic	C3AR1	.	nonsynonymous SNV	C3AR1:NM_001326475:exon2:c.G1130A:p.R377Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.775	P	0.146	B	0.156	N	1.000	N	1.9	L	1.07	T	-1.050	T	0.082	T	0.114	1.076	9.392	-0.167	-0.312	-0.694	9.796	0.082	0.0187375621679	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs751723531	5.472e-06	5.472e-06	0	1.1e-05	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	4.496e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.186	0.28860	T	0.775	0.44108	P	0.146	0.33945	B	0.155684	0.17823	N	0.424009	1	0.08975	N	1.835	0.48228	L	1.07	0.39586	T	-1.8	0.42384	N	0.056	0.02759	-1.0503	0.14313	T	0.082	0.32237	T	10	0.32683432	0.49975	T	0.018738	0.40901	T	0.082	0.23913	0.711	0.84691	0.384086055536	0.38021	0.18383806332103425	0.18302	0.0447624842732	0.04840	0.19774132967	0.00394	T	0.258173	0.62930	T	-0.335271	0.05723	T	-0.622516	0.10988	T	0.274112552404404	0.23922	T	0.615039	0.23503	T	0.09165344	0.21483	0.08736742	0.20305	0.09165344	0.21483	0.08736742	0.20304	-5.253	0.39476	T	.	.	0.084	0.09578	B	.	.	0.954398	0.13308	9.809	0.98241145749963277	0.39485	0.04617	0.10278	N	AEFDGBI	0.125718	0.24234	N	-0.578590843267659	0.19595	1.026826	-0.717083028612628	0.16535	0.8751915	0.998964793058801	0.38084	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.79	-0.167	0.12693	-0.482000	0.06623	-0.674000	0.07920	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.4971:0.0:0.5029	9.796	0.39901	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1770.98	33	chr12	8059056	.	C	T	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=846;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-1.154e+00;SOR=0.765	GT:AD:DP:GQ:PL	0/1:70,63:133:99:1785,0,1826	20	0	1	0
chr12	8773696	8773696	C	T	exonic	RIMKLB	.	nonsynonymous SNV	RIMKLB:NM_001297776:exon6:c.C1073T:p.T358M	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.989	D	0.446	B	0.000	U	1.000	D	0.55	N	.	.	-1.029	T	0.110	T	0.254	2.094	12.96	4.83	1.427	4.325	13.758	0.131	0.0355746145985	0.0019	0.00279553	0.0018	0.0057	0.0006	0	0	0.0008	0.0022	0.0056	0.0016171	250	154602	rs188393703	0.0009	0.0009	0.0008	0.0010	0.0092	0.0009	0.0008	0.0072	0.0065	0.0051	0.0006	0.0065	0	0	0.0092	0.0003	0.0018	0.0052	0.0022	0.0023	0.0022	0.0023	0.0059	0.0020	0.0020	0.0053	0.0051	0.0059	0	0.0010	0.0049	0	0	0.0034	0.0004	0.0038	0.0052	0.014	0.53172	D	0.047	0.48855	D	0.989	0.62824	D	0.446	0.45959	B	0.000008	0.62929	U	0.065889	0.999678	0.48205	D	0.345	0.11182	N	.	.	.	-1.1	0.28497	N	0.299	0.33796	-1.0288	0.20843	T	0.110	0.39723	T	8	0.0064869523	0.00147	T	0.035575	0.56436	D	0.131	0.35738	.	.	0.0934897674506	0.08844	0.5941018852188134	0.59340	0.904117605581	0.70769	0.592844069004	0.51896	T	0.008014	0.07373	T	-0.392503	0.02592	T	-0.333133	0.41120	T	0.0303859723609724	0.02049	T	0.711829	0.32321	T	0.07645309	0.17292	0.105179384	0.25277	0.07645309	0.17291	0.105179384	0.25277	-4.044	0.24460	T	.	.	0.090	0.13690	B	.;.;.	.;.;.	3.914444	0.57112	23.8	0.98222203360845284	0.39307	0.91567	0.53800	D	AEFDBIJ	0.416555	0.48496	N	0.0892876291040403	0.45963	2.844244	0.178827685413135	0.48688	3.081392	0.948926521270582	0.27822	0.706548	0.73137	0	0.588015	0.36545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.72	4.83	0.61880	5.458000	0.66416	4.911000	0.45953	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9257:0.0:0.0743	13.758	0.62433	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	0.02381	289.98	46	chr12	8773696	.	C	T	289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.07;ReadPosRankSum=2.05;SOR=0.567	GT:AD:DP:GQ:PL	0/1:28,13:41:99:304,0,738	20	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C,	.	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.183	B	0.001	B	0.106	U	1.000	N	1.32	L	3.6	T	-0.962	T	0.014	T	0.144	0.202	5.089	-0.205	-0.048	0.062	4.703	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1985.55	50	chr12	10930916	.	C	T	1985.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.28;DP=1409;ExcessHet=2.5830;FS=8.734;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=40.94;MQRankSum=-1.380e-01;QD=3.16;ReadPosRankSum=-4.690e-01;SOR=1.815	GT:AD:DP:GQ:PL	0/1:71,9:80:99:101,0,2152	14	0	7	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/1:49,23,0:72:99:488,0,1591,635,1660,2295	4	3	11	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.62	P	0.192	B	.	.	1.000	N	1.955	M	3.66	T	-1.017	T	0.013	T	0.201	-3.055	0.001	-1.24	-3.264	-3.724	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	669.11	254	chr12	11308825	.	G	T	669.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.380e-01;DP=4187;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.52;MQRankSum=-1.044e+01;QD=1.21;ReadPosRankSum=-6.039e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,24:230:99:0|1:11308808_C_T:340,0,8282:11308808	19	0	2	0
chr12	11353347	11353347	T	0	exonic	PRB1	.	.	.	.	.	9	207	2	0	8	10	0.00480769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3832.93	201	chr12	11353347	.	T	C,*	3832.93	.	AC=2,3;AF=0.067,0.100;AN=30;BaseQRankSum=1.82;DP=4251;ExcessHet=0.0840;FS=5.948;InbreedingCoeff=0.3842;MLEAC=3,4;MLEAF=0.100,0.133;MQ=54.28;MQRankSum=2.23;QD=4.99;ReadPosRankSum=2.17;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,84,0:189:99:.:.:2213,0,2554,2525,2805,5330	11	0	2	6
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,43,0:49:42:0|1:11353413_G_A:1406,0,42,1477,109,1714:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,16,0:21:77:0|1:11353413_G_A:655,0,94,670,77,734:11353413	0	8	4	7
chr12	15631664	15631664	T	G	exonic	EPS8	.	nonsynonymous SNV	EPS8:NM_004447:exon18:c.A1822C:p.K608Q,	.	.	440	1074	8	0	0	8	0.00371058	0.2354	0.612	491713	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.546	P	0.132	B	0.002	N	0.999	D	1.095	L	3.41	T	-1.053	T	0.021	T	0.692	3.743	19.01	5.75	2.191	5.774	14.628	0.143	.	0.0002	0.000399361	0.0004	0	0.0005	0	0.0002	0.0005	0.0025	0.0004	0.0002975	46	154602	rs200844984	0.0003	0.0003	0.0002	0.0003	0.0161	0.0002	0.0002	0.0134	0.0124	0.0001	0.0008	0.0004	0	0	0.0161	0.0001	0.0007	0.0006	0.0001	0.0001	0.0001	0.0002	0.0008	9.149e-05	7.704e-05	0.0003	0.0002	0	0	0.0004	0.0006	0	0	0.0068	0.0001	0	0.0008	0.023	0.48186	D	0.168	0.30631	T	0.546	0.38028	P	0.132	0.33005	B	0.002309	0.36806	N	0.272597	0.999308	0.46608	D	1.5	0.37844	L	3.41	0.06602	T	-1.03	0.27052	N	0.514	0.55106	-1.0529	0.13601	T	0.021	0.08732	T	10	0.038636625	0.02918	T	0.008819	0.23269	T	0.143	0.38195	.	.	0.657046649835	0.65417	0.47049646755063673	0.46968	0.508620062374	0.49010	0.79875421524	0.81773	T	0.206136	0.56538	T	-0.287347	0.09903	T	-0.285231	0.46265	T	0.0342426023323082	0.02679	T	0.861114	0.55479	D	0.18204689	0.39404	0.14578815	0.34563	0.18204689	0.39404	0.14578815	0.34563	-2.435	0.08101	T	.	.	0.453	0.62371	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.448689	0.48009	22.5	0.99211386752707564	0.55594	0.96996	0.72091	D	AEFBI	0.769287	0.70459	D	0.239995953207957	0.53146	3.484855	0.382959238317211	0.60514	4.239861	0.999999994599486	0.74766	0.50712	0.20391	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.75	5.75	0.90390	5.795000	0.68728	7.791000	0.68894	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.628	0.68238	798	0.45050	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	156.98	15	chr12	15631664	.	T	G	156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.42;DP=422;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.058e+00;SOR=0.260	GT:AD:DP:GQ:PL	0/1:11,6:17:99:171,0,363	20	0	1	0
chr12	21022930	21022930	A	G	exonic	SLCO1B7	.	nonsynonymous SNV	SLCO1B7:NM_001009562:exon4:c.A421G:p.I141V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.024	B	0.071	B	0.000	N	0.920	N	1.49	L	1.04	T	-1.012	T	0.082	T	0.108	-1.047	0.199	-0.263	-0.184	0.852	7.043	0.060	0.00497912937018	0.0012	0.000998403	0.0003	0.0039	0	0	0.0002	0	0	0	0.0003234	50	154602	rs201102329	9.856e-05	9.85e-05	0.0001	7.154e-05	0.0037	8.515e-05	7.985e-05	0.0031	0.0029	0.0037	0.0001	0	0	5.617e-05	0	0	0.0002	0	0.0010	0.0010	0.0010	0.0009	0.0035	0.0009	0.0008	0.0030	0.0028	0.0035	0	0.0003	0	0	9.414e-05	0	0	0.0005	0	0.174	0.22486	T	0.24	0.24987	T	0.024	0.19075	B	0.071	0.27960	B	0.000016	0.62929	N	0.146956	0.920054	0.27314	N	1.46	0.36832	L	1.04	0.40218	T	-0.76	0.21215	N	0.14	0.15609	-1.0124	0.26165	T	0.082	0.32382	T	10	0.0060474575	0.00136	T	0.004979	0.12566	T	0.060	0.17295	.	.	0.0401082797425	0.02173	0.28636698159828994	0.28549	0.0072715469592	0.00638	.	.	.	0.003493	0.02899	T	-0.6193	0.00111	T	-0.662366	0.08106	T	0.0139273310913134	0.00266	T	0.751525	0.37862	T	0.05104451	0.09314	0.06302477	0.12424	0.05104451	0.09314	0.06302477	0.12423	-4.564	0.31716	T	.	.	0.074	0.04889	B	.;.	.;.	0.404875	0.07760	4.444	0.66777269088643032	0.08158	0.06244	0.12234	N	AEFI	0.066567	0.13042	N	-1.21968607934768	0.04715	0.2133924	-1.29595172846375	0.04485	0.21167	1.16890039245698E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-0.263	0.12314	0.113000	0.15333	2.073000	0.30453	-2.202000	0.00355	0.002000	0.15269	0.240000	0.23845	0.026000	0.12556	0.7843:0.0:0.2157:0.0	7.043	0.24210	929	0.16858	.;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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1760.98	84	chr12	21022930	.	A	G	1760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e-01;DP=1367;ExcessHet=0.0000;FS=3.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.097e+00;QD=9.42;ReadPosRankSum=2.27;SOR=0.931	GT:AD:DP:GQ:PL	0/1:103,84:187:99:1775,0,2342	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,15,0:40:60:.:.:60,0,363,128,402,530	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,15,0:40:60:.:.:60,0,363,128,402,530	2	0	14	4
chr12	40367664	40367664	G	A	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon51:c.G7483A:p.V2495I,	.	.	30	1485	7	0	0	7	0.00235136	.	.	324728	not_provided|Autosomal_dominant_Parkinson_disease_8	MedGen:C3661900|MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.103	B	0.027	B	0.000	N	1.000	N	0.885	L	1.32	T	-1.052	T	0.056	T	0.283	2.042	12.79	1.26	-0.044	1.541	9.044	0.022	0.00343320907525	0.0002	0.000798722	0.0012	0	0.0004	0	0	0.0001	0	0.0080	0.0009573	148	154602	rs150062967	0.0006	0.0006	0.0004	0.0008	0.0082	0.0006	0.0006	0.0077	0.0075	0.0001	4.559e-05	0	2.549e-05	1.885e-05	0.0021	0.0001	0.0008	0.0082	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0.0002	0	0	0	0	0	0	0.0001	0.0005	0.0060	0.183	0.21718	T	0.238	0.24549	T	0.103	0.25884	B	0.027	0.21085	B	0.000201	0.47681	N	0.180568	0.97367	0.25534	N	0.71	0.18616	N	1.32	0.35219	T	-0.31	0.12099	N	0.105	0.08925	-1.0521	0.13818	T	0.056	0.23527	T	10	0.008224636	0.00187	T	0.003433	0.07725	T	0.022	0.04323	.	.	0.685966507736	0.68328	0.3195491980259057	0.31867	0.161546350324	0.18234	0.259788602591	0.04865	T	0.138615	0.47220	T	-0.51548	0.00467	T	-0.507113	0.21612	T	0.020248652370605	0.00725	T	0.729327	0.34443	T	0.09870768	0.23286	0.096570276	0.22951	0.09870768	0.23286	0.096570276	0.22950	-3.711	0.19481	T	0.2327476567871969	0.31503	0.067	0.02370	B	.	.	1.900903	0.24143	16.29	0.91485720313398411	0.20758	0.76231	0.37372	D	AEFI	0.190411	0.31764	N	-0.546262754479384	0.20601	1.087204	-0.409894505019044	0.24706	1.354478	0.00390683138488209	0.10332	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.3	1.26	0.20534	1.717000	0.37612	1.052000	0.23646	-0.135000	0.12811	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.3094:0.0:0.6906:0.0	9.044	0.35496	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	1636.11	33	chr12	40367664	.	G	A	1636.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.60;DP=818;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.932;SOR=0.658	GT:AD:DP:GQ:PL	0/1:39,30:69:99:640,0,839	19	0	2	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:295,111,491:897:99:1|0:40482887_AAGTGACAGGGACAACTGGACCATTAGCTGG_A:18846,15616,31623,0,7757,10569:40482887	1	0	5	9
chr12	40482938	40482938	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	12831.45	1036	chr12	40482938	.	C	T,*	12831.45	.	AC=5,1;AF=0.156,0.031;AN=32;BaseQRankSum=1.18;DP=20058;ExcessHet=1.7912;FS=0.805;InbreedingCoeff=-0.2537;MLEAC=6,1;MLEAF=0.188,0.031;MQ=58.43;MQRankSum=-2.514e+01;QD=1.97;ReadPosRankSum=-3.109e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:958,102,0:1060:99:1|0:40482887_AAGTGACAGGGACAACTGGACCATTAGCTGG_A:1399,0,39919,4283,40226,44509:40482887	10	0	5	5
chr12	40482955	40482955	A	0	exonic	MUC19	.	.	.	.	.	0	184	40	0	2	42	0.0980392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8116.75	1036	chr12	40482955	.	A	G,*	8116.75	.	AC=4,1;AF=0.133,0.033;AN=30;BaseQRankSum=1.89;DP=20287;ExcessHet=1.1607;FS=1.921;InbreedingCoeff=-0.2353;MLEAC=5,1;MLEAF=0.167,0.033;MQ=58.54;MQRankSum=-2.480e+01;QD=1.41;ReadPosRankSum=-6.790e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:992,87,0:1079:99:1|0:40482887_AAGTGACAGGGACAACTGGACCATTAGCTGG_A:667,0,41392,3653,41654,45307:40482887	10	0	4	6
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	0/1:321,652,0:973:99:18779,0,8035,19743,9989,29732	1	12	6	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1334.64	787	chr12	40483175	.	GAAC	G	1334.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=7.54;DP=15446;ExcessHet=0.3300;FS=5.275;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.68;MQRankSum=-1.402e+01;QD=0.58;ReadPosRankSum=-8.166e+00;SOR=1.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:583,62:645:99:0|1:40483128_A_G:848,0,24293:40483128	18	0	3	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	439.94	623	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	439.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.67;DP=15105;ExcessHet=0.0000;FS=9.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.56;MQRankSum=-1.646e+01;QD=0.59;ReadPosRankSum=-7.605e+00;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:686,60:746:99:0|1:40483128_A_G:454,0,28624:40483128	20	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	722.68	783	chr12	40487422	.	A	ACC	722.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-6.360e-01;DP=22774;ExcessHet=0.3300;FS=7.848;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=58.23;MQRankSum=-2.943e+01;QD=0.25;ReadPosRankSum=1.76;SOR=1.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:688,55:743:99:0|1:40487405_G_C:239,0,28580:40487405	17	0	3	1
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:687,0,75,0:762:99:0|1:40487405_G_C:1081,3149,31899,0,28750,28524,3149,31899,28750,31899:40487405	4	0	6	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:687,0,75,0:762:99:0|1:40487405_G_C:1081,3149,31899,0,28750,28524,3149,31899,28750,31899:40487405	4	0	6	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2114.68	803	chr12	40487442	.	G	GGCT	2114.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.626e+00;DP=23133;ExcessHet=0.3300;FS=0.986;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=57.88;MQRankSum=-2.864e+01;QD=0.75;ReadPosRankSum=0.033;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:670,71:741:99:0|1:40487405_G_C:895,0,27522:40487405	17	0	3	1
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:665,0,70:735:99:0|1:40487405_G_C:865,2874,30403,0,27529,27318:40487405	3	0	6	3
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	89288.66	720	chr12	40489602	.	G	A,*	89288.66	.	AC=6,1;AF=0.150,0.025;AN=40;BaseQRankSum=4.13;DP=11489;ExcessHet=2.5830;FS=0.517;InbreedingCoeff=-0.2174;MLEAC=6,1;MLEAF=0.150,0.025;MQ=58.87;MQRankSum=1.10;QD=18.58;ReadPosRankSum=3.71;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,334,0:682:99:0|1:40489564_G_A:12058,0,12840,13105,13845,26950:40489564	13	0	6	1
chr12	40519033	40519033	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	475	1045	2	0	0	2	0.000956023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.226e-05	2.052e-05	1.573e-05	2.905e-05	0.0003	1.528e-05	1.291e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.098e-06	0	0.0003	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	2363.98	33	chr12	40519033	.	C	G	2363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=1298;ExcessHet=0.0000;FS=1.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=-2.725e+00;QD=12.12;ReadPosRankSum=0.850;SOR=0.806	GT:AD:DP:GQ:PL	0/1:99,96:195:99:2378,0,2383	20	0	1	0
chr12	49330881	49330881	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C2036T:p.P679L,	.	.	414	1068	39	1	0	41	0.0188333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.993	D	0.608	P	0.002	N	1.000	D	1.495	L	.	.	-0.616	T	0.171	T	0.5	3.710	18.84	4.78	1.395	2.346	10.245	0.171	.	0.0012	0.00279553	0.0033	9.705e-05	0.0003	0	0	0.0016	0.0077	0.0171	0.0029042	449	154602	rs151202383	0.0023	0.0023	0.0018	0.0027	0.0164	0.0022	0.0022	0.0157	0.0154	0.0002	0.0005	7.66e-05	0	7.651e-05	0.0132	0.0015	0.0024	0.0164	0.0012	0.0012	0.0011	0.0013	0.0112	0.0011	0.0010	0.0088	0.0080	0.0003	0	0.0003	0	0.0002	0	0.0204	0.0015	0.0024	0.0112	0.002	0.72154	D	0.002	0.92824	D	0.993	0.65571	D	0.608	0.51027	P	0.002031	0.37411	N	0.119814	0.792242	0.34401	D	2.255	0.64187	M	.	.	.	-5.07	0.82830	D	0.491	0.57518	-0.6156	0.64172	T	0.171	0.51293	T	9	0.0036646128	0.00067	T	.	.	.	0.171	0.43483	.	.	0.358540694251	0.35469	0.5002058081100541	0.49941	0.724235548467	0.62377	0.354177832603	0.18535	T	0.13271	0.46296	T	-0.302781	0.08399	T	-0.194727	0.55145	T	0.0593209418376601	0.07061	T	0.845915	0.52533	T	0.16959953	0.37486	0.17775902	0.40399	0.16959953	0.37486	0.17775902	0.40398	-4.074	0.24905	T	.	.	0.287	0.51951	B	.;.;.	.;.;.	3.944180	0.57739	23.9	0.99772410723977034	0.86003	0.22307	0.21702	N	AEFDGBCI	0.122227	0.23727	N	0.0927473183184727	0.46124	2.857777	0.0424489785806869	0.41708	2.510312	0.999999947508023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.78	0.60666	2.432000	0.44442	3.939000	0.40590	0.599000	0.40250	0.027000	0.20232	0.992000	0.31684	0.990000	0.65344	0.0:0.91:0.0:0.09	10.245	0.42516	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1971.98	33	chr12	49330881	.	C	T	1971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.40;DP=1354;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.889;SOR=0.520	GT:AD:DP:GQ:PL	0/1:90,71:161:99:1986,0,2138	20	0	1	0
chr12	49897574	49897574	T	C	exonic	FAIM2	.	nonsynonymous SNV	FAIM2:NM_012306:exon4:c.A325G:p.I109V,	.	.	419	1086	16	1	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.996	D	0.000	D	1.000	D	1.815	L	3.34	T	-0.797	T	0.216	T	0.534	3.299	17.09	5.74	2.317	6.513	12.712	0.235	.	0.0002	0.00159744	0.0016	0	8.676e-05	0	0	0.0002	0.0011	0.0112	0.0013583	210	154602	rs200620529	0.0007	0.0007	0.0004	0.0011	0.0103	0.0007	0.0007	0.0097	0.0095	5.974e-05	0	0.0045	2.519e-05	0	0.0010	3.148e-05	0.0007	0.0103	0.0004	0.0004	0.0002	0.0006	0.0085	0.0003	0.0003	0.0064	0.0057	2.408e-05	0	6.538e-05	0.0046	0	0	0	5.883e-05	0	0.0085	0.386	0.17940	T	0.112	0.37037	T	0.998	0.73220	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.355	0.67662	M	0.9	0.45248	T	-0.35	0.16393	N	0.443	0.48134	-0.7975	0.55292	T	0.216	0.57732	T	10	0.009682864	0.00218	T	.	.	.	0.235	0.53788	.	.	0.272557281605	0.26857	0.7459938201656584	0.74545	1.05934363459	0.76425	0.593752563	0.52024	T	0.190085	0.54451	T	-0.406099	0.02110	T	-0.348148	0.39416	T	0.101228885639526	0.12492	T	0.934107	0.78426	D	0.11005327	0.26015	0.103523225	0.24841	0.11005327	0.26015	0.103523225	0.24841	-5.794	0.44522	T	.	.	0.133	0.40065	B	.;.;.;.;.	.;.;.;.;.	4.305724	0.65784	24.9	0.99806870377764767	0.89085	0.92562	0.56003	D	AEFDBCI	0.825949	0.74554	D	0.684415758947276	0.78613	6.906662	0.689373481034832	0.81570	7.558122	0.999999207072692	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	2.900000	0.48386	6.146000	0.54124	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	12.712	0.56462	262	0.89730	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	501.98	35	chr12	49897574	.	T	C	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=756;ExcessHet=0.0000;FS=1.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.23;ReadPosRankSum=-7.400e-02;SOR=0.963	GT:AD:DP:GQ:PL	0/1:38,23:61:99:516,0,890	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,7:47:11:0|1:51706661_G_C:11,0,1396:51706661	8	0	9	4
chr12	52692555	52692555	-	CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTGAACTGAT	exonic	KRT77	.	stopgain	KRT77:NM_175078:exon7:c.1292_1293insATCAGTTCACTACAAACTCCGCCTCCTGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG:p.E432Sfs*20,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0002	0.0004	0.0010	0.0002	0.0002	0.0005	0.0003	2.988e-05	0.0001	0.0002	0	0.0003	0.0010	0.0003	0.0003	0.0001	9.253e-05	0.0001	9.046e-05	9.47e-05	0.0002	5.559e-05	4.389e-05	6.958e-05	5.126e-05	0	0	0.0001	0.0003	0	9.454e-05	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	635.94	33	chr12	52692555	.	C	CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTGAACTGAT	635.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=877;ExcessHet=0.0000;FS=4.789;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=-2.439e+00;SOR=1.316	GT:AD:DP:GQ:PL	0/1:75,22:97:99:650,0,3087	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,18,0:55:99:0|1:52949249_G_A:644,0,1499,756,1554,2309:52949249	0	0	20	0
chr12	53061258	53061258	A	G	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.A3382G:p.T1128A	.	.	425	1090	7	0	0	7	0.00320073	.	.	1650245	not_provided|TNS2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.001	B	0.990	N	1.000	N	-0.345	N	-0.03	T	-1.041	T	0.058	T	0.063	0.275	5.487	0.411	0.210	-0.827	3.025	0.041	0.00687841325701	0.0068	0.00259585	0.0066	0.0021	0.0030	0.0001	0.0097	0.0092	0.0088	0.0017	0.0064618	999	154602	rs117152710	0.0099	0.0098	0.0101	0.0097	0.0116	0.0097	0.0097	0.0115	0.0114	0.0014	0.0028	0.0027	5.084e-05	0.0074	0.0011	0.0116	0.0100	0.0016	0.0067	0.0067	0.0070	0.0065	0.0104	0.0064	0.0063	0.0097	0.0095	0.0021	0.0461	0.0044	0.0023	0.0002	0.0086	0	0.0104	0.0066	0.0019	0.153	0.24564	T	0.623	0.14633	T	0.0	0.07471	B	0.0	0.04355	B	0.990093	0.08036	N	0.995534	1	0.08975	N	.	.	.	-0.03	0.63077	T	0.07	0.06138	N	0.054	0.03841	-1.0410	0.17011	T	0.058	0.24167	T	10	0.0026211143	0.00040	T	0.006878	0.18205	T	0.041	0.10877	.	.	0.0138822411134	0.00435	0.250443145003512	0.24958	0.217637932078	0.24287	0.262815266848	0.05230	T	0.112665	0.42910	T	-0.610847	0.00125	T	-0.638539	0.09777	T	0.00745719731631518	0.00086	T	0.128487	0.01008	T	0.08522565	0.19759	0.036684442	0.03164	0.08522565	0.19759	0.036684442	0.03163	-4.163	0.29353	T	.	.	0.066	0.02228	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.115102	0.03552	0.683	0.57000616297912687	0.05674	0.01611	0.05216	N	AEFDBCI	0.056962	0.10572	N	-1.52166306306796	0.01707	0.07473583	-1.47580384273179	0.02544	0.1171883	0.999941587760941	0.47345	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	0.411	0.15609	-0.374000	0.07541	-0.980000	0.06715	-0.884000	0.02433	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.1756:0.3895:0.3379:0.097	3.025	0.05719	759	0.50631	.;.;.;.;.;.	.	.	.	.	rs117152710	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1642.98	36	chr12	53061258	.	A	G	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=841;ExcessHet=0.0000;FS=2.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-4.360e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1657,0,1455	20	0	1	0
chr12	53192752	53192752	C	T	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon13:c.G1885A:p.G629S,	.	.	417	1082	22	1	0	24	0.0109689	.	.	702391	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.98	D	0.001	D	1.000	D	2.205	M	-3.52	D	0.317	D	0.679	D	0.61	3.160	16.57	5.13	2.579	1.984	17.828	0.668	.	0.0022	0.00878594	0.0082	0.0013	0.0266	0	0.0189	0.0026	0.0055	0.0224	0.0074385	1150	154602	rs61754162	0.0048	0.0048	0.0042	0.0054	0.0246	0.0047	0.0047	0.0237	0.0234	0.0007	0.0228	0.0003	0	0.0175	0.0049	0.0024	0.0045	0.0246	0.0057	0.0057	0.0044	0.0071	0.0221	0.0054	0.0053	0.0187	0.0175	0.0015	0	0.0172	0	0.0006	0.0193	0	0.0031	0.0080	0.0221	0.126	0.27194	T	0.168	0.30631	T	1.0	0.90584	D	0.98	0.74843	D	0.000557	0.43413	D	0.000000	0.999972	0.81001	D	3.02	0.86243	M	-3.52	0.94729	D	-3.1	0.63554	D	0.371	0.41656	0.317	0.87824	D	0.679	0.88907	D	10	0.011388004	0.00249	T	.	.	.	0.668	0.87674	.	.	0.93656258965	0.93590	0.5989086097140932	0.59821	0.979702362568	0.73696	0.506250977516	0.39698	T	0.732236	0.92515	D	-0.12979	0.31530	T	0.0597138	0.74226	D	0.027408211834605	0.01603	T	0.508249	0.16142	T	0.18392958	0.39684	0.19071843	0.42491	0.18392958	0.39684	0.19071843	0.42490	-6.615	0.51168	T	.	.	0.134	0.29172	B	.;.	.;.	3.923047	0.57282	23.8	0.998013563709925	0.88639	0.88276	0.48131	D	AEFDGBHCI	0.311644	0.41731	N	0.420792611744161	0.62566	4.474637	0.329919055694175	0.57304	3.895758	0.999999999511653	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	5.13	5.13	0.69729	2.442000	0.44531	5.933000	0.51351	0.595000	0.32841	0.992000	0.37556	1.000000	0.68203	0.044000	0.14658	0.0:1.0:0.0:0.0	17.828	0.88584	735	0.53711	EGF-like domain, extracellular;EGF-like domain, extracellular	.	.	.	.	.	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	0.02381	815.98	34	chr12	53192752	.	C	T	815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.657;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-1.614e+00;SOR=0.779	GT:AD:DP:GQ:PL	0/1:27,31:58:99:830,0,693	20	0	1	0
chr12	55221386	55221386	A	G	exonic	OR10A7	.	nonsynonymous SNV	OR10A7:NM_001005280:exon1:c.A362G:p.D121G,	.	.	427	1092	3	0	0	3	0.00137174	.	.	2382076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	0.001	D	1.000	D	4.155	H	2.23	T	-0.470	T	0.189	T	0.776	3.684	18.72	3.25	1.502	8.309	11.719	0.449	0.00768443183659	7.7e-05	.	0.0002	0	0	0	0.0006	0.0002	0	0	0.0001229	19	154602	rs368770820	9.099e-05	9.098e-05	9.666e-05	8.527e-05	0.0003	7.824e-05	7.306e-05	6.522e-05	6.081e-05	0	0	0.0007	0	0.0003	0.0003	7.914e-05	9.936e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.104e-05	5.758e-05	9.056e-05	7.018e-05	0	0	0	0.0014	0	9.457e-05	0	0.0002	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.985	0.76457	D	0.000721	0.42254	D	0.000000	0.999503	0.47320	D	3.805	0.95442	H	2.23	0.18083	T	-6.78	0.92825	D	0.704	0.70790	-0.4704	0.69711	T	0.189	0.53975	T	10	0.6303084	0.68478	D	0.007684	0.20378	T	0.449	0.75004	.	.	0.609368579385	0.60622	0.46309142427281985	0.46228	0.03340616035	0.03497	0.246558338404	0.03414	T	0.066055	0.32847	T	-0.129596	0.31561	T	-0.0918676	0.64021	T	0.921344339847565	0.58094	D	0.917108	0.70302	D	0.9346192	0.94702	0.9173835	0.96214	0.9346192	0.94702	0.9173835	0.96214	-9.052	0.68032	D	.	.	0.733	0.74350	P	.	.	4.624723	0.73477	26.0	0.99822649964246302	0.90502	0.99101	0.91240	D	AEFBI	0.809439	0.73295	D	0.849884405555324	0.89102	9.835342	0.680544863284871	0.80904	7.403595	0.441711344221848	0.20459	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.25	3.25	0.36363	8.712000	0.91099	.	.	0.703000	0.85290	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	11.719	0.50934	862	0.33134	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.02381	2103.98	34	chr12	55221386	.	A	G	2103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.970e-01;DP=871;ExcessHet=0.0000;FS=1.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.256e+00;SOR=0.872	GT:AD:DP:GQ:PL	0/1:93,86:179:99:2118,0,2533	20	0	1	0
chr12	55427175	55427175	-	A	exonic	OR6C76	.	frameshift insertion	OR6C76:NM_001005183:exon1:c.922dupA:p.H312Tfs*2,	.	.	20	137	43	12	14	81	0.196481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3673.16	49	chr12	55427174	.	CA	C,CAA	3673.16	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.114;DP=906;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3243;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=0.243;SOR=0.727	GT:AD:DP:GQ:PL	0/1:13,14,0:29:99:295,0,247,334,316,700	11	0	9	0
chr12	55692966	55692966	T	C	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon20:c.A1378G:p.S460G	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	.	2	1518	2	0	0	2	0.000658328	.	.	1048035	Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency	MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.156	B	0.197	B	0.317	N	0.995	N	1.355	L	0.76	T	-0.982	T	0.115	T	0.167	2.042	12.79	4.03	0.997	1.402	7.548	0.036	0.0159892040791	.	.	2.48e-05	0	0	0	0	4.513e-05	0	0	1.94e-05	3	154602	rs771994045	2.6e-05	2.599e-05	2.45e-05	2.75e-05	0.0002	1.932e-05	1.692e-05	1.83e-05	1.582e-05	0	0	0	0	0	0.0002	2.608e-05	0.0001	0	1.973e-05	1.97e-05	3.857e-05	0	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.314	0.14159	T	0.375	0.17115	T	0.0	0.28196	B	0.003	0.36707	B	0.317176	0.14333	N	0.679412	0.994554	0.23493	N	1.29	0.32370	L	0.76	0.49919	T	-1.25	0.36586	N	0.189	0.21319	-0.9816	0.34632	T	0.115	0.40808	T	10	0.11123788	0.20821	T	0.015989	0.37021	T	0.036	0.09122	0.295	0.25881	0.391000631824	0.38715	0.25109715897224344	0.25023	0.151610818243	0.17110	0.397195160389	0.24678	T	0.014996	0.42123	T	-0.228926	0.16792	T	-0.502967	0.22040	T	0.121610822379565	0.14586	T	0.670133	0.27879	T	0.04839926	0.08429	0.058261383	0.10734	0.04839926	0.08429	0.058261383	0.10733	-3.57	0.18176	T	.	.	0.071	0.03925	B	.;.;.;.;.	.;.;.;.;.	2.154655	0.27447	17.46	0.99127029115210485	0.53142	0.60574	0.31234	D	AEFGBI	0.206257	0.33253	N	-0.246889025286698	0.31228	1.748929	-0.105317329210287	0.35175	2.031935	0.852625714743848	0.25073	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.17	4.03	0.46115	0.930000	0.28458	.	.	0.609000	0.47794	0.980000	0.35271	1.000000	0.68203	0.904000	0.43992	0.0:0.0955:0.0:0.9045	7.548	0.26942	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	450.98	35	chr12	55692966	.	T	C	450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.640;DP=738;ExcessHet=0.0000;FS=4.291;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=1.05;SOR=1.371	GT:AD:DP:GQ:PL	0/1:25,20:45:99:465,0,618	20	0	1	0
chr12	55703101	55703101	G	A	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001144996:exon2:c.C284T:p.P95L	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	490984	Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_provided	MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.975	M	-2.98	D	0.965	D	0.882	D	0.821	3.490	17.85	4.35	2.430	4.141	14.777	0.791	0.485972845943	0.0008	0.000399361	0.0002	0.0019	0.0004	0	0	0	0	0	0.0001746	27	154602	rs143749139	4.72e-05	4.788e-05	4.492e-05	4.951e-05	0.0011	3.794e-05	3.476e-05	0.0008	0.0007	0.0011	0.0002	0	5.038e-05	0	0.0002	2.698e-06	0.0002	8.115e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0.0003	0	0	0	0	0	0.0005	0	0.015	0.56456	D	0.007	0.70582	D	1.0	0.90584	D	0.927	0.66185	D	0.000003	0.62929	D	0.000000	1	0.81001	D	3.22	0.89398	M	-2.98	0.92057	D	-5.05	0.85176	D	0.796	0.79214	0.965	0.96615	D	0.882	0.96072	D	10	0.42482784	0.57104	T	0.485973	0.94920	D	0.791	0.93108	.	.	0.987138323299	0.98699	0.899389648473138	0.89910	0.702318693783	0.61207	0.7773244977	0.78525	T	0.110631	0.92604	T	0.0161682	0.53862	T	0.237218	0.85015	D	0.281007544273752	0.24214	T	0.938806	0.78138	D	0.28364056	0.51395	0.31220037	0.57223	0.28364056	0.51395	0.31220037	0.57222	-9.493	0.71226	D	.	.	0.251	0.51840	B	.;.;.;.	.;.;.;.	5.043554	0.83965	28.2	0.99868206821363437	0.94637	0.97371	0.74326	D	AEFDBI	0.781053	0.71275	D	0.634802352832195	0.75389	6.297124	0.520661204285804	0.69381	5.352382	0.999999996751461	0.74766	0.617157	0.39670	1	0.588015	0.36545	0	0.786243	0.99158	0	0.542086	0.14980	0	.	.	4.35	4.35	0.51454	4.362000	0.59241	.	.	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:0.0:1.0:0.0	14.777	0.69364	720	0.55521	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	791.98	39	chr12	55703101	.	G	A	791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=882;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-6.110e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:43,30:73:99:806,0,1189	20	0	1	0
chr12	56996414	56996414	C	T	exonic	GPR182	.	nonsynonymous SNV	GPR182:NM_007264:exon2:c.C1205T:p.T402I,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.016	N	1.000	N	0	N	-0.52	T	-0.885	T	0.177	T	0.084	2.779	15.25	-1.99	-0.431	-1.439	10.206	0.165	0.0222974062105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903631848	6.302e-06	6.84e-06	4.157e-06	8.493e-06	.	2.97e-06	2.15e-06	.	.	0	0	0	0	0	0	0	0.0002	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.016174	0.01434	N	2.783590	1	0.08975	N	0.55	0.14455	N	-0.52	0.70717	T	-0.45	0.14782	N	0.019	0.00279	-0.8846	0.49390	T	0.177	0.52162	T	10	0.056494176	0.06342	T	0.022297	0.45174	T	0.165	0.42395	0.095	0.01241	0.0846915920261	0.08053	0.26468407470477723	0.26381	0.168275460022	0.18970	0.296970188618	0.09950	T	0.106487	0.41787	T	-0.188919	0.22416	T	-0.509145	0.21403	T	0.130950381949653	0.15470	T	0.322168	0.06550	T	0.054210622	0.10369	0.09005334	0.21094	0.054210622	0.10369	0.09005334	0.21093	-4.677	0.33125	T	.	.	0.070	0.03625	B	.	.	-0.459485	0.02000	0.177	0.99102771576196025	0.52521	0.01129	0.04108	N	AEFDBI	0.042253	0.06531	N	-1.34400790277307	0.03187	0.141967	-1.36463141615341	0.03636	0.1700315	0.998500962986076	0.37090	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.645665	0.59343	0	.	.	4.96	-1.99	0.07047	-1.292000	0.02880	-4.068000	0.02361	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6057:0.0:0.3943	10.206	0.42290	152	0.94023	.	.	.	.	.	.	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	1	0	0	0	0.02381	871.98	38	chr12	56996414	.	C	T	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.724e+00;DP=772;ExcessHet=0.0000;FS=1.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-6.220e-01;SOR=0.945	GT:AD:DP:GQ:PL	0/1:38,36:74:99:886,0,1023	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:4,4,0,0:11:75:180,0,75,165,122,322,165,122,322,322	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:4,4,0,0:11:75:180,0,75,165,122,322,165,122,322,322	3	0	8	0
chr12	80460747	80460747	C	T	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon6:c.C755T:p.T252M,	Deafness, autosomal recessive 84A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779710150	4.03e-06	1.59e-06	8.169e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	6.042e-05	0	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.07998103	0.12928	T	.	.	.	.	.	.	.	.	.	0.3103204566541129	0.30945	.	.	.	.	.	0.035648	0.23800	T	.	.	.	.	.	.	.	.	.	0.475352	0.14216	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06571	B	.;.;.	.;.;.	0.765010	0.11347	7.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.213000	0.09309	-4.773000	0.01992	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	917	0.20147	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1418.98	33	chr12	80460747	.	C	T	1418.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=870;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.934e+00;SOR=0.546	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1433,0,1072	20	0	1	0
chr12	85040563	85040563	A	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon3:c.A206G:p.E69G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.964	D	0.637	P	0.085	N	0.804	N	1.445	L	0.56	T	-0.791	T	0.167	T	0.455	2.441	14.12	4.53	1.816	2.508	7.103	0.127	0.036109835936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	2.736e-06	1.373e-06	1.387e-06	1.811e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.46513	D	0.166	0.51112	T	0.964	0.55854	D	0.637	0.51992	P	0.085295	0.20649	N	0.345516	0.804403	0.29076	N	2.34	0.67151	M	0.56	0.55439	T	-4.84	0.81030	D	0.315	0.35514	-0.7914	0.55648	T	0.167	0.50583	T	10	0.18906403	0.34489	T	0.03611	0.56779	D	0.127	0.34888	0.258	0.20002	0.54665026281	0.54320	0.07647537423681271	0.07583	0.0394828570117	0.04210	0.344313323498	0.17081	T	0.024919	0.18734	T	-0.0565718	0.43440	T	-0.319038	0.42680	T	0.83502656838669	0.48927	D	0.690631	0.30204	T	0.16745919	0.37144	0.23576428	0.48829	0.16745919	0.37143	0.23576428	0.48828	-5.371	0.40640	T	.	.	0.134	0.34004	B	.;.	.;.	3.987178	0.58650	24.0	0.99594993578665481	0.73866	0.55757	0.29944	D	AEFI	0.242177	0.36368	N	0.21769650707813	0.52058	3.382384	0.24543352097637	0.52389	3.414121	0.0133216564396304	0.12449	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.53	4.53	0.55009	1.694000	0.37371	5.035000	0.46860	0.665000	0.62972	0.696000	0.28588	1.000000	0.68203	0.925000	0.46118	0.8957:0.0:0.1043:0.0	7.103	0.24529	927	0.17636	.;.	.	.	.	.	.	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	0.02381	1072.98	34	chr12	85040563	.	A	G	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=0.672;SOR=0.723	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1087,0,690	20	0	1	0
chr12	95872345	95872345	C	T	exonic	CCDC38	.	nonsynonymous SNV	CCDC38:NM_182496:exon14:c.G1394A:p.R465H,	.	.	.	.	.	.	.	.	.	.	.	3295755	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.998	D	0.001	D	1.000	D	1.54	L	1.38	T	-0.903	T	0.174	T	0.576	3.805	19.32	5.63	2.812	2.918	12.204	0.154	0.0293846183528	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs777275253	4.241e-05	4.241e-05	3.675e-05	4.813e-05	0.0005	3.376e-05	3.065e-05	0.0001	7.541e-05	5.974e-05	0	0	0	0	0.0005	4.766e-05	4.967e-05	1.159e-05	4.597e-05	4.594e-05	2.57e-05	6.716e-05	0.0002	2.108e-05	1.526e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0	0	0	0	7.351e-05	0	0.0002	0.005	0.63226	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000603	0.42945	D	0.198650	0.935519	0.81001	D	1.965	0.53209	M	1.38	0.34050	T	-2.8	0.59226	D	0.536	0.56403	-0.9033	0.47639	T	0.174	0.51753	T	10	0.53462553	0.63377	D	0.029385	0.51906	D	0.154	0.40340	0.305	0.27485	0.173771789658	0.16945	0.21110162684666472	0.21026	0.384264492685	0.39732	0.53833013773	0.44210	T	0.059204	0.31052	T	-0.183126	0.23273	T	-0.319297	0.42652	T	0.854873418807983	0.50591	D	0.868113	0.56980	D	0.18204029	0.39403	0.13661934	0.32678	0.18204029	0.39403	0.13661934	0.32677	-6.4	0.49509	T	.	.	0.108	0.20313	B	.	.	4.657700	0.74315	26.1	0.99940664547643632	0.99767	0.76285	0.37402	D	AEFBI	0.195843	0.32286	N	0.572392966454314	0.71455	5.653569	0.558522839901957	0.71992	5.740199	0.259051814551795	0.18768	0.522611	0.21652	0	0.54472	0.11627	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	1.894000	0.39401	3.946000	0.40638	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.079000	0.17189	0.0:0.9206:0.0:0.0794	12.204	0.53649	604	0.67577	.	.	.	.	.	.	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	0.02381	1324.98	40	chr12	95872345	.	C	T	1324.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.068e+00;DP=834;ExcessHet=0.0000;FS=3.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-6.130e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1339,0,1305	20	0	1	0
chr12	96720499	96720499	A	G	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon50:c.A6899G:p.E2300G	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.599	N	2.095	M	.	.	-0.312	T	0.303	T	0.871	3.086	16.30	5.04	2.041	4.783	11.478	0.280	0.0659308365253	7.7e-05	.	3.682e-05	0.0003	0	0	0	0	0	7.789e-05	1.94e-05	3	154602	rs148002682	2.76e-05	3.078e-05	3.43e-05	2.082e-05	0.0006	2.08e-05	1.832e-05	0.0004	0.0004	0.0006	0	0	0	0	0.0002	0	0.0002	4.737e-05	8.55e-05	8.539e-05	9.001e-05	8.077e-05	0.0003	4.962e-05	3.966e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.005	0.72224	D	.	.	.	.	.	.	0.000022	0.55875	D	0.000000	0.598502	0.30960	N	.	.	.	.	.	.	-4.19	0.75615	D	0.63	0.64393	-0.3120	0.74648	T	0.303	0.67399	T	9	0.5537646	0.64402	D	0.065931	0.69726	D	0.280	0.59740	.	.	0.214338557667	0.21045	0.4327475006742987	0.43191	0.0397352770973	0.04241	.	.	.	0.324332	0.69516	T	0.209287	0.74763	D	0.347563	0.90221	D	0.905921578407288	0.55980	D	0.676832	0.28555	T	0.398272	0.60613	0.5629525	0.74708	0.398272	0.60613	0.5629525	0.74709	-9.388	0.70160	D	.	.	0.496	0.64403	A	.	.	5.095078	0.85098	28.5	0.99902713611024208	0.97426	0.78201	0.38547	D	AEFDGBHCI	0.621377	0.60609	D	0.549540600785994	0.70055	5.445525	0.471188078912579	0.66089	4.906846	0.999999999499718	0.74766	0.40479	0.06251	1	0.171818	0.04012	3	0.600433	0.31921	0	0.665054	0.64577	0	.	.	5.04	5.04	0.67293	5.107000	0.64439	11.067000	0.85526	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	1.0:0.0:0.0:0.0	11.478	0.49558	570	0.70478	.	.	.	.	.	.	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	0.02381	1566.98	33	chr12	96720499	.	A	G	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.037e+00;DP=856;ExcessHet=0.0000;FS=8.004;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.541;SOR=0.257	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1581,0,1593	20	0	1	0
chr12	96829068	96829068	G	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon66:c.G9151A:p.E3051K	.	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	0.800	D	.	.	.	.	-0.544	T	0.229	T	0.15	1.414	10.67	4.29	1.337	2.949	10.030	0.023	0.0414180961159	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs367773098	1.762e-05	1.916e-05	2.322e-05	1.188e-05	0.0005	1.192e-05	1.002e-05	0.0003	0.0003	0.0005	0	0	0	0	0.0002	0	0.0001	0	7.894e-05	7.883e-05	9.004e-05	6.732e-05	0.0003	4.501e-05	3.516e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.726	0.03857	T	0.24	0.24406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.57	0.17210	N	0.123	0.11483	-0.5438	0.67020	T	0.229	0.59497	T	5	0.055776417	0.06150	T	0.041418	0.59915	D	0.023	0.04649	0.261	0.20473	0.0716867268079	0.06686	0.08250627484070838	0.08185	0.0386348827147	0.04107	.	.	.	0.009783	0.08886	T	-0.399774	0.02323	T	-0.475765	0.24897	T	0.0568057328832343	0.06656	T	0.60024	0.22396	T	0.08029848	0.18392	0.09071043	0.21288	0.08029848	0.18391	0.09071043	0.21287	-2.993	0.10106	T	.	.	0.078	0.06896	B	.	.	1.937284	0.24609	16.46	0.89915695497318426	0.19215	0.25371	0.22678	N	AEFI	0.083301	0.16875	N	-0.225416012192442	0.32093	1.806323	-0.309871696417931	0.27779	1.543877	0.0212619137037029	0.13334	0.651	0.46895	0	0.588015	0.36545	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.18	4.29	0.50359	3.342000	0.51877	5.764000	0.49701	0.676000	0.76740	0.541000	0.27275	1.000000	0.68203	0.002000	0.04165	0.094:0.0:0.906:0.0	10.030	0.41269	829	0.39537	.	.	.	.	.	.	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	0.02381	1194.98	33	chr12	96829068	.	G	A	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.730;DP=795;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-1.091e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1209,0,1239	20	0	1	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/2:5,0,10,0,0:15:99:395,411,621,0,210,180,411,621,210,621,411,621,210,621,621	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/2:5,0,10,0,0:15:99:395,411,621,0,210,180,411,621,210,621,411,621,210,621,621	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/2:5,0,10,0,0:15:99:395,411,621,0,210,180,411,621,210,621,411,621,210,621,621	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	0/2:5,0,10,0,0:15:99:395,411,621,0,210,180,411,621,210,621,411,621,210,621,621	6	1	11	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:100,0,0,11,0:111:99:.:.:145,448,4628,448,4628,4628,0,4181,4181,4148,448,4628,4628,4181,4628	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:100,0,0,11,0:111:99:.:.:145,448,4628,448,4628,4628,0,4181,4181,4148,448,4628,4628,4181,4628	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:100,0,0,11,0:111:99:.:.:145,448,4628,448,4628,4628,0,4181,4181,4148,448,4628,4628,4181,4628	10	0	6	0
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	4718.56	63	chr12	103985730	.	T	TGGAGTTAAGAGGAG,TGGAGTTAAGAGGAGA,TGG	4718.56	.	AC=2,7,1;AF=0.048,0.167,0.024;AN=42;BaseQRankSum=3.76;DP=1742;ExcessHet=6.1002;FS=6.604;InbreedingCoeff=-0.3125;MLEAC=2,7,1;MLEAF=0.048,0.167,0.024;MQ=56.83;MQRankSum=-7.850e+00;QD=5.90;ReadPosRankSum=-3.934e+00;SOR=1.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:54,0,15,0:69:99:0|1:103985728_A_ATTGAGAGC:466,630,2840,0,2210,2165,630,2840,2210,2840:103985728	11	0	2	0
chr12	104251602	104251602	G	C	exonic	TXNRD1	.	unknown	UNKNOWN,	.	.	431	1081	9	1	0	11	0.00506213	.	.	738403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.731	P	0.13	B	.	.	1.000	N	0.895	L	-0.24	T	-1.006	T	0.120	T	0.165	1.380	10.54	0.88	0.048	0.964	1.974	0.060	0.0138271224247	0.0007	0.000798722	0.0015	0	0.0006	0	0	0.0011	0.0033	0.0064	0.0013389	207	154602	rs200693410	0.0010	0.0010	0.0009	0.0012	0.0083	0.0010	0.0010	0.0065	0.0058	0.0004	0.0006	3.826e-05	5.038e-05	1.873e-05	0.0083	0.0007	0.0012	0.0062	0.0007	0.0007	0.0007	0.0008	0.0046	0.0006	0.0006	0.0031	0.0026	0.0002	0	0.0008	0	0	0	0.0034	0.0009	0.0005	0.0046	0.147	0.25154	T	0.147	0.32783	T	0.731	0.42679	P	0.13	0.32896	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	-0.24	0.66834	T	-0.69	0.19720	N	0.201	0.22228	-1.0064	0.28034	T	0.120	0.41993	T	9	0.0051448345	0.00112	T	0.013827	0.33526	T	0.060	0.17295	.	.	0.600799045715	0.59760	.	.	0.199921612236	0.22393	0.270602464676	0.06220	T	0.303315	0.67567	T	-0.473897	0.00804	T	-0.449771	0.27723	T	0.00524706877377156	0.00057	T	0.417558	0.11011	T	0.04495692	0.07275	0.04208616	0.04932	0.04495692	0.07275	0.04208616	0.04931	.	.	.	.	.	0.139	0.30502	B	.;.	.;.	0.749671	0.11194	7.829	0.7159681798771208	0.09683	0.11591	0.16734	N	AEFDBI	0.067388	0.13246	N	-0.852172566943832	0.11996	0.5821327	-0.94376530837125	0.11068	0.5616075	0.995435340302536	0.34125	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.85	0.88	0.18296	0.490000	0.22112	2.878000	0.35310	-0.227000	0.07798	0.000000	0.06391	0.863000	0.27509	0.088000	0.17685	0.1815:0.1719:0.491:0.1555	1.974	0.03205	678	0.60190	Glutaredoxin;Glutaredoxin	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	100	chr12	104251602	.	G	C	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.188e+00;DP=2358;ExcessHet=0.0000;FS=0.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=1.03;SOR=0.590	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1318,0,1102	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,4,16:20:99:1|0:111598949_GGCT_G:1100,668,697,157,0,101:111598949	2	0	0	0
chr12	113945865	113945865	T	G	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon13:c.A1589C:p.Q530P	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.721	P	0.222	B	0.000	D	1.000	D	1.59	L	3.36	T	-0.999	T	0.018	T	0.684	2.390	13.95	3.47	1.759	4.666	10.986	0.107	0.00475663701404	.	.	1.666e-05	0	8.764e-05	0	0	1.509e-05	0	0	1.29e-05	2	154602	rs753411509	2.295e-05	2.327e-05	2.358e-05	2.232e-05	2.752e-05	1.637e-05	1.44e-05	1.952e-05	1.694e-05	0	2.238e-05	0	0	0	0	2.752e-05	0	2.333e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.042	0.41637	D	0.112	0.37037	T	0.721	0.42361	P	0.222	0.37884	B	0.000012	0.62929	D	0.113194	0.999923	0.51308	D	2.125	0.59049	M	3.36	0.05918	T	-2.1	0.47852	N	0.417	0.46086	-0.9985	0.30339	T	0.018	0.07282	T	10	0.30773926	0.48275	T	0.004757	0.11879	T	0.107	0.30369	0.493	0.58048	0.294206760003	0.29026	0.7312929241422842	0.73074	0.228153966021	0.25366	0.361224353313	0.19565	T	0.224538	0.58900	T	-0.0915934	0.37814	T	-0.268714	0.47950	T	0.656424701213837	0.38740	D	0.917108	0.70302	D	0.4388278	0.63326	0.49905556	0.71036	0.4388278	0.63327	0.49905556	0.71037	-15.917	0.97634	D	.	.	0.498	0.64490	A	.;.;.	.;.;.	4.032740	0.59644	24.1	0.98995471350437081	0.50024	0.93462	0.58282	D	AEFDBCI	0.750115	0.69133	D	0.144060320127285	0.48530	3.064253	0.178243129150621	0.48656	3.078689	0.942479109983412	0.27524	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	3.47	0.38831	4.644000	0.61092	4.052000	0.41516	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:0.1563:0.8437	10.986	0.46735	929	0.16858	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1704.98	68	chr12	113945865	.	T	G	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.464e+00;DP=1156;ExcessHet=0.0000;FS=1.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=1.54;SOR=0.696	GT:AD:DP:GQ:PL	0/1:63,73:136:99:1719,0,1542	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:26,8,11,0,0,0:45:84:446,84,829,0,676,962,413,922,944,1279,413,922,944,1279,1279,413,922,944,1279,1279,1279	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:26,8,11,0,0,0:45:84:446,84,829,0,676,962,413,922,944,1279,413,922,944,1279,1279,413,922,944,1279,1279,1279	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:26,8,11,0,0,0:45:84:446,84,829,0,676,962,413,922,944,1279,413,922,944,1279,1279,413,922,944,1279,1279,1279	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:26,8,11,0,0,0:45:84:446,84,829,0,676,962,413,922,944,1279,413,922,944,1279,1279,413,922,944,1279,1279,1279	4	0	0	0
chr12	123799289	123799289	A	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon13:c.A1853T:p.Y618F	.	.	435	1082	5	0	0	5	0.00230521	.	.	3216458	DNAH10-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.545	P	0.583	P	0.000	N	0.851	D	0.98	L	0.4	T	-0.876	T	0.153	T	0.274	1.609	11.34	3.11	0.950	5.654	10.649	0.118	0.015864527977	0.0004	0.000399361	0.0006	0	0.0002	0	0	0.0003	0.0011	0.0029	0.0005563	86	154602	rs199570902	0.0005	0.0005	0.0004	0.0007	0.0040	0.0005	0.0005	0.0037	0.0035	0.0001	0.0001	0	0	0	0.0009	0.0003	0.0004	0.0040	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0001	0.0013	0.0010	4.812e-05	0	0	0	0	0	0	0.0003	0	0.0023	0.175	0.22400	T	0.152	0.32249	T	0.545	0.37995	P	0.583	0.50264	P	0.000462	0.44119	N	0.092711	0.851486	0.35230	D	1.78	0.46185	L	0.36	0.57880	T	-2.27	0.50666	N	0.472	0.50778	-0.8764	0.50044	T	0.153	0.48222	T	10	0.010342479	0.00230	T	0.015865	0.36838	T	0.118	0.32913	.	.	0.440915056915	0.43709	0.1624457390257318	0.16164	0.170007074348	0.19168	0.47973304987	0.36019	T	0.219733	0.58282	T	-0.439573	0.01301	T	-0.407871	0.32472	T	0.083593865568556	0.10440	T	0.827217	0.49094	T	0.10523108	0.24880	0.07650457	0.16951	0.10523108	0.24880	0.07650457	0.16951	-3.545	0.17067	T	.	.	0.169	0.37140	B	.;.;.	.;.;.	1.894077	0.24054	16.25	0.94532640982608318	0.25032	0.97346	0.74169	D	AEFBI	0.708338	0.66278	D	-0.179313870913331	0.33997	1.935245	-0.100578154250689	0.35367	2.04532	0.00248292456808039	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.64	3.11	0.34883	5.666000	0.67729	6.631000	0.56152	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.7447:0.0:0.0:0.2553	10.649	0.44829	327	0.86637	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	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	0.02381	677.98	34	chr12	123799289	.	A	T	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.570e-01;DP=800;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=0.062;SOR=0.555	GT:AD:DP:GQ:PL	0/1:54,36:90:99:692,0,1237	20	0	1	0
chr12	123850976	123850976	A	C	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon34:c.A5837C:p.E1946A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.983	D	0.000	U	1.000	D	2.585	M	1.01	T	-0.411	T	0.288	T	0.876	4.947	28.7	5.48	2.084	9.339	15.592	0.657	0.0366681188696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	0.77913	D	0.983	0.75793	D	0.000001	0.84330	U	0.000000	1	0.81001	D	2.945	0.84822	M	.	.	.	.	.	.	.	.	-0.4110	0.71679	T	0.288	0.66026	T	10	0.8643676	0.85672	D	0.036668	0.57136	D	0.657	0.87135	0.704	0.84054	0.389283895039	0.38539	0.7188984835970317	0.71832	0.637416002275	0.57484	0.70775449276	0.68268	T	0.076452	0.35421	T	0.226507	0.76392	D	0.0875856	0.76084	D	0.997587561607361	0.91913	D	0.979602	0.93000	D	0.6948622	0.77776	0.68821764	0.81660	0.6948622	0.77777	0.68821764	0.81661	-13.203	0.90181	D	.	.	0.802	0.77390	P	.;.	.;.	4.980615	0.82498	27.8	0.99569618663240345	0.72318	0.98822	0.87309	D	AEFDGBI	0.934362	0.92761	D	0.843019938678565	0.88705	9.680655	0.797123499707169	0.89593	10.039	0.99999994989521	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	9.325000	0.96006	11.139000	0.87016	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	15.592	0.76288	526	0.73951	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1021.98	33	chr12	123850976	.	A	C	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-6.590e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1036,0,843	20	0	1	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:0,19,17,0,0:36:99:1500,642,582,727,0,642,1438,644,716,1416,1438,644,716,1416,1416	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:0,19,17,0,0:36:99:1500,642,582,727,0,642,1438,644,716,1416,1438,644,716,1416,1416	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:0,19,17,0,0:36:99:1500,642,582,727,0,642,1438,644,716,1416,1438,644,716,1416,1416	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/2:0,19,17,0,0:36:99:1500,642,582,727,0,642,1438,644,716,1416,1438,644,716,1416,1416	0	1	2	0
chr12	128815054	128815054	G	A	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon2:c.C563T:p.P188L,	.	.	433	1073	15	1	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.781	P	0.000	D	1.000	D	2.5	M	3.66	T	-1.144	T	0.043	T	0.429	4.415	23.4	4.74	1.333	6.996	14.921	0.214	0.0318144051753	0.0009	0.00139776	0.0019	0.0001	0.0004	0.0001	0	0.0020	0.0045	0.0054	0.0016882	261	154602	rs144816528	0.0013	0.0014	0.0011	0.0016	0.0066	0.0013	0.0013	0.0056	0.0054	0.0002	0.0010	0.0026	0	1.878e-05	0.0066	0.0011	0.0015	0.0060	0.0013	0.0013	0.0013	0.0013	0.0069	0.0012	0.0011	0.0050	0.0044	0.0003	0	0.0022	0.0032	0	0	0.0068	0.0016	0.0005	0.0069	0.122	0.27663	T	0.056	0.46632	T	0.995	0.67487	D	0.781	0.57337	P	0.000000	0.84330	D	0.049858	1	0.81001	D	2.505	0.72935	M	3.66	0.04228	T	-5.53	0.86073	D	0.523	0.55280	-1.1444	0.01202	T	0.043	0.18368	T	10	0.011609405	0.00253	T	0.031814	0.53806	D	0.214	0.50650	.	.	0.537448724652	0.53396	0.7007468417578417	0.70015	1.01471025542	0.74896	0.749294996262	0.74342	T	0.212984	0.57418	T	-0.432594	0.01430	T	-0.391833	0.34337	T	0.0400950152124888	0.03707	T	0.945705	0.79334	D	0.5231945	0.68443	0.64855677	0.79443	0.5231945	0.68444	0.64855677	0.79444	-10.446	0.76537	D	.	.	0.223	0.45396	B	.	.	4.698475	0.75353	26.3	0.99824457386087739	0.90677	0.94211	0.60451	D	AEFBCI	0.788367	0.71787	D	0.658871248472649	0.76944	6.580729	0.620955765108923	0.76465	6.495757	0.999999998996771	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.65	4.74	0.59717	7.192000	0.77301	5.720000	0.49467	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:0.8557:0.1443	14.921	0.70484	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	0.02381	394.98	33	chr12	128815054	.	G	A	394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=2.00;SOR=0.558	GT:AD:DP:GQ:PL	0/1:29,16:45:99:409,0,754	20	0	1	0
chr12	129903305	129903305	T	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon1:c.A35T:p.H12L,	.	.	429	1061	28	3	1	35	0.0157699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.122	N	1.000	N	-0.895	N	3.89	T	-0.953	T	0.002	T	0.141	0.122	4.656	-4.27	-0.792	0.050	0.934	0.037	.	0.0062	0.00539137	0.0099	0.0015	0.0023	0.0016	0.0238	0.0092	0.0105	0.0144	0.0041203	637	154602	rs142888394	0.0101	0.0099	0.0100	0.0103	0.0144	0.0100	0.0099	0.0137	0.0134	0.0014	0.0040	0.0019	0	0.0066	0.0072	0.0110	0.0093	0.0144	0.0064	0.0064	0.0069	0.0060	0.0114	0.0061	0.0060	0.0095	0.0092	0.0018	0	0.0052	0.0006	0.0004	0.0057	0.0068	0.0101	0.0061	0.0114	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.121962	0.18974	N	0.452778	0.999993	0.08975	N	-0.69	0.01958	N	3.89	0.03544	T	-0.41	0.14000	N	0.121	0.11197	-0.9532	0.40416	T	0.002	0.00676	T	9	0.0027821362	0.00044	T	.	.	.	0.037	0.09474	.	.	0.043077524339	0.03247	0.45197660202093237	0.45115	0.293656750439	0.31782	0.574056863785	0.49250	T	0.002835	0.02227	T	-0.674789	0.00051	T	-0.730388	0.04310	T	0.000752514955551363	0.00007	T	0.306369	0.05889	T	0.09347234	0.21955	0.026087241	0.00681	0.09347234	0.21955	0.026087241	0.00681	-1.391	0.01555	T	.	.	0.052	0.00220	B	.	.	0.835830	0.12076	8.628	0.84902657149399108	0.15566	0.04191	0.09695	N	AEFDBHCI	0.028112	0.02415	N	-1.18063007958765	0.05293	0.2409575	-1.1311354264033	0.07111	0.3447007	0.999996201678762	0.74766	0.789315	0.99827	0	0.573888	0.26702	0	0.768056	0.98339	0	0.564101	0.26826	0	.	.	5.2	-4.27	0.03486	-0.052000	0.11821	-0.650000	0.08033	0.605000	0.46263	0.030000	0.20431	0.000000	0.08366	0.996000	0.76049	0.4633:0.173:0.1254:0.2384	0.934	0.01256	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	0.04762	1336.11	34	chr12	129903305	.	T	A	1336.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.26;DP=800;ExcessHet=0.1072;FS=2.158;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=1.67;SOR=0.592	GT:AD:DP:GQ:PL	0/1:27,20:47:99:430,0,704	19	0	2	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,21,0,0:46:99:.:.:818,893,1920,0,1028,953,893,1920,1028,1920,893,1920,1028,1920,1920	4	2	6	0
chr13	20512513	20512513	T	C	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon2:c.A79G:p.S27G	.	.	8	1511	3	0	0	3	0.000991736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.207	B	0.149	B	0.000	N	1.000	D	1.31	L	-1.09	T	-0.806	T	0.282	T	0.28	1.647	11.47	3.24	0.438	0.841	4.998	0.166	0.0238275151096	0.0003	0.000199681	0.0002	0	0.0004	0	0	0.0002	0	0.0003	0.0001876	29	154602	rs201748334	0.0001	0.0001	9.121e-05	0.0001	0.0019	9.05e-05	8.532e-05	0.0011	0.0008	0	0.0001	0.0013	0	0	0.0019	4.676e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0002	0.0008	8.657e-05	7.25e-05	0.0003	0.0002	0	0	0.0001	0.0014	0	0	0.0034	0.0001	0.0005	0.0008	0.244	0.17468	T	0.485	0.12421	T	0.207	0.29891	B	0.149	0.34106	B	0.000001	0.84330	N	0.126220	0.99937	0.50595	D	1.52	0.38360	L	-1.09	0.77206	T	-1.03	0.28084	N	0.186	0.20262	-0.8065	0.54760	T	0.282	0.65359	T	10	0.043402553	0.03186	T	0.023828	0.46806	T	0.166	0.42578	.	.	0.574533306093	0.57122	0.53266866701041	0.53191	0.231166425372	0.25661	0.490114033222	0.37455	T	0.253714	0.62428	T	-0.269384	0.11826	T	-0.328536	0.41631	T	0.0275458127256736	0.01622	T	0.777122	0.42203	T	0.20102571	0.42098	0.07880914	0.17684	0.20102571	0.42098	0.07880914	0.17684	-8.392	0.63712	D	.	.	0.076	0.13830	B	.;.;.;.	.;.;.;.	1.848353	0.23484	16.03	0.92254471279087458	0.21634	0.66991	0.33272	D	AEFBI	0.264074	0.38149	N	-0.237997059770668	0.31585	1.772544	-0.114564582281258	0.34802	2.006075	0.918479003275392	0.26573	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.65	3.24	0.36257	0.664000	0.24749	1.142000	0.24413	-0.674000	0.04282	1.000000	0.71638	1.000000	0.68203	0.273000	0.23843	0.1359:0.152:0.0:0.7121	4.998	0.13597	728	0.54609	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1661.11	73	chr13	20512513	.	T	C	1661.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=819;ExcessHet=0.1072;FS=3.128;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.128;SOR=0.522	GT:AD:DP:GQ:PL	0/1:27,32:59:99:710,0,687	19	0	2	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	0/1:17,18,0,0:37:99:365,0,340,453,391,907,453,391,907,907	1	1	4	0
chr13	24434978	24434978	G	A	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon31:c.C4163T:p.P1388L,	.	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.0	B	0.329	U	1.000	N	0.205	N	4.63	T	-0.953	T	0.003	T	0.1	-1.267	0.046	-4.42	-1.848	-1.719	4.790	0.005	0.000723599973031	.	.	6.591e-05	0	0	0	0	2.998e-05	0	0.0004	5.17e-05	8	154602	rs774447084	2.942e-05	2.941e-05	1.089e-05	4.814e-05	0.0007	2.217e-05	1.97e-05	0.0002	0.0002	0	0	0	0	0	0.0007	8.094e-06	4.969e-05	0.0003	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.835	0.02847	T	0.2	0.27591	T	0.0	0.02946	B	0.0	0.01387	B	0.328742	0.14150	U	0.521506	1	0.08975	N	0.345	0.11182	N	4.63	0.01817	T	-0.41	0.14000	N	0.076	0.05037	-0.9534	0.40380	T	0.003	0.01059	T	10	0.03480056	0.01703	T	7.24E-4	0.00472	T	0.005	0.00259	0.308	0.27967	0.1749357433	0.17121	0.22046449809413016	0.21961	0.11738018142	0.13225	0.223511010408	0.01522	T	0.029971	0.21354	T	-0.588661	0.00171	T	-0.767191	0.02861	T	0.00925002617682026	0.00117	T	0.535646	0.17968	T	0.01402332	0.00078	0.02109189	0.00173	0.01402332	0.00078	0.02109189	0.00173	-2.824	0.08406	T	.	.	0.066	0.02200	B	.	.	-0.941999	0.00858	0.030	0.44364680561853598	0.03405	0.00124	0.00775	N	AEFBI	0.015782	0.00318	N	-1.87257002416119	0.00391	0.01679526	-1.96876523634494	0.00356	0.01571734	0.013581062023822	0.12482	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.25	-4.42	0.03329	-1.689000	0.02025	-2.457000	0.03731	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3636:0.2928:0.3436:0.0	4.790	0.12611	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	584.98	49	chr13	24434978	.	G	A	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=990;ExcessHet=0.0000;FS=2.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.055e+00;SOR=0.895	GT:AD:DP:GQ:PL	0/1:31,25:56:99:599,0,893	20	0	1	0
chr13	24861305	24861305	C	T	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon27:c.C3800T:p.P1267L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.001	N	1.000	D	0.55	N	2.77	T	-1.126	T	0.039	T	0.486	3.506	17.92	4.53	2.504	2.789	8.840	0.202	0.0110483282132	.	.	2.471e-05	0	0.0002	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs750750208	6.931e-06	8.209e-06	8.281e-06	5.569e-06	7.042e-05	3.51e-06	2.56e-06	1.867e-05	1.017e-05	0	7.042e-05	0	2.609e-05	1.88e-05	0	2.724e-06	3.354e-05	0	1.972e-05	1.97e-05	2.571e-05	1.346e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.07	0.35349	T	0.118	0.36233	T	1.0	0.90584	D	1.0	0.97372	D	0.001335	0.39379	N	0.174402	1	0.81001	D	1.935	0.51832	L	2.77	0.11407	T	-5.84	0.93440	D	0.621	0.63628	-1.1256	0.02005	T	0.039	0.16806	T	10	0.3377298	0.50890	T	0.011048	0.28270	T	0.202	0.48754	0.587	0.71497	0.082315109003	0.07666	0.7598839327639708	0.75936	0.828958284525	0.67545	0.571795403957	0.48932	T	0.245904	0.61528	T	-0.294772	0.09162	T	-0.424528	0.30557	T	0.960858643054962	0.65919	D	0.847115	0.55431	T	0.21385784	0.43775	0.24278912	0.49707	0.21385784	0.43775	0.24278912	0.49706	-8.564	0.64852	D	.	.	0.276	0.63262	B	.;.;.	.;.;.	4.494561	0.70240	25.5	0.99822917532150512	0.90590	0.83147	0.42289	D	AEFBI	0.218865	0.34382	N	0.419374163405285	0.62487	4.465508	0.465718879347723	0.65731	4.86118	0.921973325048354	0.26692	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	4.53	0.55009	2.651000	0.46338	5.838000	0.50223	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8333:0.0:0.1667	8.840	0.34294	895	0.25842	Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	208.98	34	chr13	24861305	.	C	T	208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.390e-01;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.36;ReadPosRankSum=-1.460e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:26,13:39:99:223,0,573	20	0	1	0
chr13	25096284	25096286	AGA	-	exonic	PABPC3	.	nonframeshift deletion	PABPC3:NM_030979:exon1:c.86_88del:p.K30del,	.	.	432	1066	24	0	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0015	9.614e-05	0.0010	0.0002	0	0.0017	0.0022	0.0033	0.0003458	9	26028	rs773401999	0.0012	0.0012	0.0010	0.0013	0.0104	0.0011	0.0011	0.0083	0.0075	0.0002	0.0014	0.0170	2.519e-05	0	0.0104	0.0006	0.0027	0.0038	0.0010	0.0010	0.0010	0.0010	0.0046	0.0009	0.0008	0.0031	0.0026	0.0002	0	0.0012	0.0144	0	0	0.0068	0.0006	0.0052	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6500.07	33	chr13	25096283	.	GAGA	G	6500.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.557;DP=988;ExcessHet=0.1072;FS=6.724;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=19.70;ReadPosRankSum=1.12;SOR=0.443	GT:AD:DP:GQ:PL	0/1:69,77:146:99:3026,0,2665	19	0	2	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,65,0:237:99:0|1:25097005_A_G:2212,0,7027,2729,7222,9952:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:172,0,65:237:99:0|1:25097005_A_G:2212,2729,9952,0,7222,7027:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:172,0,65:237:99:0|1:25097005_A_G:2212,2729,9952,0,7222,7027:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,65,0:238:99:0|1:25097005_A_G:2209,0,7023,2729,7218,9948:25097005	4	0	16	0
chr13	30653155	30653155	C	G	exonic	USPL1	.	nonsynonymous SNV	USPL1:NM_001321534:exon5:c.C259G:p.P87A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.176	B	0.037	B	0.074	N	1.000	N	1.87	L	4.04	T	-0.979	T	0.011	T	0.257	-1.980	0.007	1.96	0.625	0.786	3.739	0.053	0.00459952618942	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385864857	2.774e-06	2.736e-06	4.126e-06	1.398e-06	3.636e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.636e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.052	0.39097	T	0.727	0.05256	T	0.176	0.28893	B	0.037	0.23121	B	0.073906	0.21316	N	0.534254	1	0.08975	N	2.625	0.76847	M	4.04	0.03121	T	-3.65	0.69950	D	0.265	0.30800	-0.9790	0.35231	T	0.011	0.04181	T	10	0.1405847	0.26722	T	0.005	0.11377	T	0.053	0.14996	.	.	0.165133752707	0.16062	0.2913576595719307	0.29048	0.0636878223407	0.07091	0.280958890915	0.07626	T	0.031386	0.22016	T	-0.205874	0.19964	T	-0.5335	0.18938	T	0.342694222927094	0.26730	T	0.838916	0.51225	T	0.08102177	0.18596	0.10605748	0.25506	0.08102177	0.18595	0.10605748	0.25505	-5.15	0.38429	T	.	.	0.096	0.15564	B	.;.	.;.	1.382153	0.17934	13.46	0.09141263554989372	0.00086	0.22163	0.21653	N	AEFDGBI	0.041706	0.06377	N	-0.479750388667663	0.22745	1.216676	-0.487343725973477	0.22501	1.222469	0.998316480388973	0.36741	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.63	1.96	0.25203	0.816000	0.26924	0.223000	0.16097	0.599000	0.40250	0.142000	0.23535	0.010000	0.20010	0.433000	0.27516	0.0:0.2725:0.3921:0.3353	3.739	0.08047	963	0.08280	Ubiquitin-specific peptidase-like, SUMO isopeptidase|Ubiquitin specific protease domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	828.98	33	chr13	30653155	.	C	G	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.40;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=1.18;SOR=0.807	GT:AD:DP:GQ:PL	0/1:32,26:58:99:843,0,855	20	0	1	0
chr13	31274581	31274581	G	A	exonic	B3GLCT	.	nonsynonymous SNV	B3GLCT:NM_194318:exon9:c.G733A:p.V245M,	Peters-plus syndrome, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	102523	Peters_plus_syndrome|not_provided|not_specified	MONDO:MONDO:0009856,MedGen:C0796012,OMIM:261540,Orphanet:709|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.069	B	0.009	B	0.452	N	1.000	N	1.7	L	-0.64	T	-0.905	T	0.170	T	0.108	-0.113	3.446	1.84	0.021	-0.058	4.173	0.061	.	0.0053	0.00439297	0.0070	0.0014	0.0029	0	0.0026	0.0091	0.0099	0.0099	0.0068369	1057	154602	rs34830061	0.0070	0.0070	0.0069	0.0071	0.0121	0.0069	0.0068	0.0099	0.0090	0.0012	0.0032	0.0153	7.558e-05	0.0036	0.0121	0.0073	0.0066	0.0092	0.0050	0.0050	0.0051	0.0050	0.0097	0.0047	0.0046	0.0075	0.0067	0.0013	0.0208	0.0027	0.0193	0	0.0028	0.0034	0.0072	0.0071	0.0097	0.136	0.26085	T	0.106	0.37872	T	0.069	0.23796	B	0.009	0.14300	B	0.451778	0.12498	N	0.768332	1	0.08975	N	0.46	0.12951	N	-0.64	0.72125	T	0.14	0.05405	N	0.179	0.19325	-0.9055	0.47389	T	0.170	0.51052	T	10	0.0038720667	0.00073	T	.	.	.	0.061	0.17616	.	.	0.498513350342	0.49487	0.4227196399436346	0.42188	0.222872868779	0.24819	0.271227419376	0.06302	T	0.037088	0.24346	T	-0.501488	0.00561	T	-0.48588	0.23824	T	0.000223777613944911	0.00001	T	0.647135	0.25820	T	0.021001458	0.00681	0.027739998	0.00950	0.021001458	0.00681	0.027739998	0.00950	-4.006	0.23893	T	0.11511323578910222	0.10263	0.071	0.04002	B	.	.	0.603724	0.09722	6.491	0.91156191702256784	0.20411	0.04882	0.10625	N	AEFDBIJ	0.039290	0.05685	N	-0.785131843644018	0.13696	0.6766145	-0.833203669276532	0.13691	0.7116637	0.999959240786618	0.48110	0.732398	0.92422	0	0.588015	0.36545	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.62	1.84	0.24348	-0.220000	0.09220	0.271000	0.16657	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.0753:0.1312:0.389:0.4045	4.173	0.09798	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	1	0	0.04762	2242.11	33	chr13	31274581	.	G	A	2242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=820;ExcessHet=0.1072;FS=7.817;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.110e+00;SOR=0.645	GT:AD:DP:GQ:PL	0/1:32,35:67:99:884,0,788	19	0	2	0
chr13	32254323	32254323	A	G	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon51:c.A7345G:p.T2449A,	.	.	0	1472	50	0	0	50	0.0167001	.	.	725466	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.003	B	0.001	N	1.000	D	1.15	L	1.89	T	-1.064	T	0.036	T	0.054	1.607	11.33	3.21	0.498	2.920	5.747	0.047	.	0.0031	0.00898562	0.0065	0.0005	0.0016	0.0041	0.0039	0.0044	0.0022	0.0245	0.0058214	900	154602	rs192351218	0.0039	0.0039	0.0033	0.0046	0.0213	0.0039	0.0038	0.0204	0.0201	0.0006	0.0023	0.0033	0.0038	0.0036	0.0147	0.0027	0.0048	0.0213	0.0037	0.0037	0.0034	0.0039	0.0236	0.0034	0.0033	0.0201	0.0188	0.0008	0	0.0043	0.0037	0.0029	0.0035	0.0272	0.0039	0.0038	0.0236	.	.	.	0.952	0.02632	T	0.001	0.07471	B	0.003	0.08700	B	0.001155	0.40056	N	0.296096	0.916143	0.36544	D	1.525	0.38595	L	.	.	.	.	.	.	0.104	0.08786	-1.0644	0.10689	T	0.036	0.15553	T	10	0.0036722124	0.00067	T	.	.	.	0.047	0.12962	.	.	0.043077524339	0.03247	0.26827228298660577	0.26740	0.390152499004	0.40238	0.468544095755	0.34480	T	0.021424	0.16683	T	-0.582555	0.00186	T	-0.592656	0.13437	T	0.00881356298500261	0.00109	T	0.772923	0.40417	T	0.043323237	0.06732	0.032588337	0.02018	0.043323237	0.06731	0.032588337	0.02018	-3.869	0.21839	T	.	.	0.072	0.04396	B	.;.;.;.;.	.;.;.;.;.	2.167731	0.27620	17.52	0.93253645255033513	0.22944	0.80571	0.40173	D	AEFGBHCI	0.237725	0.35996	N	-0.396740501119558	0.25585	1.38994	-0.222223952144809	0.30741	1.733514	0.999999917014364	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.72	3.21	0.35933	2.421000	0.44343	0.884000	0.22419	0.756000	0.94297	1.000000	0.71638	0.011000	0.20116	0.988000	0.63387	0.7049:0.0:0.1436:0.1515	5.747	0.17396	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	0.02381	828.98	33	chr13	32254323	.	A	G	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.722;SOR=0.676	GT:AD:DP:GQ:PL	0/1:40,34:74:99:843,0,1076	20	0	1	0
chr13	38689807	38689807	C	A	exonic	FREM2	.	stopgain	FREM2:NM_207361:exon1:c.C2463A:p.Y821X,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	A	.	.	.	.	.	.	.	.	.	8.996	41	2.77	0.811	0.169	11.610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000775	0.41888	D	0.249082	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.759	0.75742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.099867	0.96141	35	0.99651990985997241	0.77380	0.70237	0.34508	D	AEFBCI	0.321798	0.42448	N	0.484280776219817	0.66171	4.915861	0.306440176747559	0.55919	3.754643	0.999877768147035	0.44625	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.8	2.77	0.31614	0.343000	0.19686	0.400000	0.17989	0.594000	0.32500	0.641000	0.28093	0.032000	0.21310	0.967000	0.53440	0.0:0.7767:0.0:0.2233	11.610	0.50311	938	0.14419	.	.	.	.	.	.	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	0.04762	93.12	37	chr13	38689807	.	C	A	93.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.397e+00;DP=1521;ExcessHet=0.1072;FS=246.519;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.446;SOR=8.468	GT:AD:DP:GQ:PL	0/1:134,31:165:21:21,0,3368	19	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:83,42:134:85:85,0,1284	6	0	15	0
chr13	42300902	42300902	G	A	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G2156A:p.S719N,	.	.	.	.	.	.	.	.	.	.	.	2337460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.36	B	0.139	B	0.000	N	0.999	D	0.745	N	1.82	T	-1.105	T	0.049	T	0.152	2.221	13.38	5.13	1.517	7.563	14.324	0.047	0.0116550215927	.	.	3.297e-05	0	0	0	0	4.498e-05	0	6.064e-05	2.59e-05	4	154602	rs548020698	8.893e-06	8.893e-06	5.445e-06	1.238e-05	2.236e-05	4.96e-06	3.82e-06	3.1e-06	2.24e-06	0	2.236e-05	0	0	0	0	7.195e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.131	0.34596	T	0.36	0.33860	B	0.139	0.33484	B	0.000002	0.62929	N	0.095656	0.998857	0.45564	D	1.445	0.36358	L	1.82	0.25018	T	-1.17	0.29933	N	0.225	0.25253	-1.1047	0.03567	T	0.049	0.20789	T	10	0.19073704	0.34730	T	0.011655	0.29486	T	0.047	0.12962	0.402	0.43245	0.259504319725	0.25562	0.6299750719488352	0.62931	0.0807488137742	0.09089	0.530196547508	0.43063	T	0.023381	0.17856	T	-0.256402	0.13325	T	-0.498423	0.22511	T	0.229758054018021	0.21940	T	0.823318	0.48387	T	0.10154866	0.23988	0.14863048	0.35127	0.10154866	0.23988	0.14863048	0.35126	-5.886	0.45316	T	.	.	0.166	0.36614	B	.	.	3.008697	0.40229	21.1	0.99022356778063159	0.50613	0.96519	0.69544	D	AEFGBCI	0.856420	0.77365	D	0.121034492461188	0.47446	2.970106	0.283539807207062	0.54579	3.622368	0.999999999431591	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.13	0.69729	7.683000	0.83394	5.854000	0.50366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0719:0.0:0.9281:0.0	14.324	0.66065	687	0.59234	.	.	.	.	.	.	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	0.02381	2386.98	35	chr13	42300902	.	G	A	2386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.305e+00;DP=1170;ExcessHet=0.0000;FS=0.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.348;SOR=0.778	GT:AD:DP:GQ:PL	0/1:81,89:170:99:2401,0,2321	20	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	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	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,36:122:99:0|1:42303097_G_C:432,0,1974:42303097	0	0	20	1
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	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:66,27:93:99:167,0,1113	10	0	11	0
chr13	52461388	52461388	A	G	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon4:c.A565G:p.N189D	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.898	P	0.000	N	0.798	D	2.17	M	2.01	T	-0.755	T	0.147	T	0.203	3.503	17.90	4.01	0.825	1.874	9.612	0.106	0.0144471386127	0.0002	0.00139776	0.0011	0	0.0002	0.0001	0	0.0002	0.0033	0.0067	0.0009638	149	154602	rs202229967	0.0006	0.0006	0.0004	0.0008	0.0074	0.0005	0.0005	0.0069	0.0067	2.987e-05	0.0002	0	2.519e-05	0	0.0017	0.0001	0.0006	0.0074	0.0004	0.0004	0.0003	0.0004	0.0066	0.0003	0.0003	0.0048	0.0042	0	0	0.0001	0	0	0	0	0.0003	0	0.0066	0.0	0.91255	D	0.058	0.46182	T	0.995	0.67487	D	0.898	0.63708	P	0.000005	0.62929	N	0.063249	0.798279	0.34477	D	2.4	0.69460	M	1.58	0.29085	T	-2.99	0.63554	D	0.214	0.28498	-0.7548	0.57683	T	0.147	0.47201	T	9	0.008205891	0.00186	T	0.014447	0.34575	T	0.106	0.30130	.	.	0.241078983079	0.23725	0.25504385482322084	0.25418	0.370295865773	0.38553	0.436763465405	0.30135	T	0.247199	0.61680	T	-0.482599	0.00714	T	-0.462271	0.26352	T	0.0887426653985173	0.11067	T	0.721828	0.33531	T	0.6273262	0.74155	0.6370526	0.78807	0.6273262	0.74156	0.6370526	0.78808	-4.132	0.37325	T	.	.	0.176	0.43462	B	.;.;.;.	.;.;.;.	2.535192	0.32784	19.15	0.99740545744037179	0.83482	0.81330	0.40756	D	AEDBI	.	.	.	0.355651432425928	0.59040	4.080142	0.296097418893518	0.55310	3.69429	0.999998256619928	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	4.01	0.45821	2.141000	0.41792	2.434000	0.32743	0.756000	0.94297	0.987000	0.36337	0.847000	0.27355	0.981000	0.58702	0.9165:0.0:0.0835:0.0	9.612	0.38830	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1837.98	36	chr13	52461388	.	A	G	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1044;ExcessHet=0.0000;FS=1.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-1.011e+00;SOR=0.589	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1852,0,1873	20	0	1	0
chr13	59971024	59971024	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon10:c.C998T:p.P333L	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	0	1461	59	2	0	63	0.0211055	.	.	504315	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.238	B	0.092	B	0.001	D	1.000	D	1.445	L	2.22	T	-0.257	T	0.415	T	0.397	4.618	25.2	4.41	2.457	4.877	13.275	0.304	.	0.0040	0.00778754	0.0085	0.0008	0.0062	0.0001	0.0014	0.0060	0.0089	0.0318	0.0076778	1187	154602	rs150023947	0.0063	0.0063	0.0055	0.0072	0.0319	0.0062	0.0062	0.0309	0.0305	0.0006	0.0044	0.0296	0.0001	0.0011	0.0119	0.0044	0.0086	0.0319	0.0047	0.0047	0.0042	0.0052	0.0251	0.0044	0.0043	0.0215	0.0201	0.0008	0.0461	0.0051	0.0300	0	0.0016	0.0034	0.0043	0.0085	0.0251	0.005	0.68238	D	0.001	0.83351	D	0.125	0.30817	B	0.028	0.30031	B	0.000959	0.40932	D	0.247452	1	0.81001	D	2.25	0.63811	M	-2.15	0.86481	D	-5.16	0.84246	D	0.291	0.33469	-0.2568	0.76174	T	0.415	0.76211	T	10	0.0070751607	0.00161	T	.	.	.	0.304	0.62510	.	.	0.931659697617	0.93095	0.43640497725947763	0.43557	0.595140059168	0.54798	0.630806744099	0.57260	T	0.154959	0.49648	T	-0.235202	0.15967	T	-0.0869431	0.64391	T	0.0280072759026319	0.01689	T	0.813719	0.56350	T	0.23259822	0.46050	0.23462705	0.48684	0.23259822	0.46050	0.23462705	0.48683	-8.137	0.63445	D	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.435212	0.47760	22.5	0.98970279956217821	0.49520	0.96298	0.68457	D	AEFDBI	0.657088	0.62884	D	-0.00404400910006807	0.41672	2.496801	0.127604620753477	0.45966	2.850574	0.999999997408739	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.27	4.41	0.52588	5.930000	0.69823	6.163000	0.54371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0765:0.0:0.9235:0.0	13.275	0.59617	908	0.22609	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1161.98	34	chr13	59971024	.	G	A	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.988;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.37;ReadPosRankSum=2.17;SOR=0.757	GT:AD:DP:GQ:PL	0/1:31,40:73:99:1176,0,884	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,9,0:14:99:.:.:354,0,175,369,203,572	9	2	7	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F	Propionicacidemia, Autosomal recessive	.	35	1422	60	5	0	70	0.024022	.	.	47470	Propionic_acidemia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.072	B	0.059	B	0.001	D	1.000	N	0.69	N	-1.19	T	-0.954	T	0.166	T	0.756	-0.778	0.737	-1.81	-0.531	-0.247	13.543	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	649.98	37	chr13	100368479	.	G	T	649.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.136e+00;DP=822;ExcessHet=0.0000;FS=2.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=2.30;SOR=0.343	GT:AD:DP:GQ:PL	0/1:21,31:52:99:664,0,489	20	0	1	0
chr13	102690880	102690880	C	G	exonic	METTL21C	.	nonsynonymous SNV	METTL21C:NM_001010977:exon2:c.G215C:p.R72P,	.	.	430	1039	51	2	0	55	0.0257853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.431	B	0.071	B	0.025	N	1.000	N	0.55	N	2.51	T	-1.035	T	0.013	T	0.11	1.590	11.27	-4.69	-0.770	-0.991	3.606	0.047	.	0.0071	0.00359425	0.0100	0.0012	0.0016	0.0001	0.0204	0.0113	0.0165	0.0170	0.0094501	1461	154602	rs149948690	0.0092	0.0092	0.0088	0.0096	0.0190	0.0091	0.0090	0.0182	0.0179	0.0014	0.0020	0.0036	2.519e-05	0.0190	0.0147	0.0090	0.0089	0.0190	0.0065	0.0065	0.0061	0.0070	0.0155	0.0062	0.0061	0.0127	0.0117	0.0018	0.0187	0.0021	0.0040	0	0.0158	0.0068	0.0089	0.0043	0.0155	0.197	0.20607	T	0.197	0.27855	T	0.431	0.35606	B	0.071	0.27960	B	0.025462	0.01631	N	1.963520	1	0.08975	N	1.04	0.26193	L	2.51	0.14284	T	-1.77	0.41809	N	0.291	0.32921	-1.0349	0.18888	T	0.013	0.04843	T	10	0.0050058663	0.00108	T	.	.	.	0.047	0.12962	.	.	.	.	0.7297983950850847	0.72924	0.113194095826	0.12776	0.194922536612	0.00325	T	0.021721	0.16866	T	-0.693516	0.00040	T	-0.754684	0.03307	T	0.00500844983931811	0.00054	T	0.493251	0.15238	T	0.81374246	0.84801	0.3472523	0.60382	0.81374246	0.84803	0.3472523	0.60381	-7.212	0.55568	T	.	.	0.344	0.56185	A	.	.	0.401928	0.07729	4.411	0.94050410969188059	0.24177	0.07920	0.13907	N	AEFBCI	0.143530	0.26625	N	-1.06908644187949	0.07219	0.3346629	-1.10916156895534	0.07524	0.3663372	0.999367551965747	0.39301	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	-4.69	0.03061	-1.033000	0.03682	-2.694000	0.03459	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.1814:0.4624:0.0807:0.2755	3.606	0.07586	942	0.12992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4203.08	34	chr13	102690880	.	C	G	4203.08	.	AC=2;AF=0.048;AN=42;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.39;SOR=0.794	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4231,429,0	20	1	0	0
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:114,32:157:10:10,0,2855	8	0	10	3
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,0,74,0,0,0:152:99:.:.:1779,2012,4192,0,2180,1958,2012,4192,2180,4192,2012,4192,2180,4192,4192,2012,4192,2180,4192,4192,4192	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,0,74,0,0,0:152:99:.:.:1779,2012,4192,0,2180,1958,2012,4192,2180,4192,2012,4192,2180,4192,4192,2012,4192,2180,4192,4192,4192	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,0,74,0,0,0:152:99:.:.:1779,2012,4192,0,2180,1958,2012,4192,2180,4192,2012,4192,2180,4192,4192,2012,4192,2180,4192,4192,4192	7	0	5	0
chr13	113404117	113404152	TCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	-	exonic	LOC101928841	.	nonframeshift deletion	LOC101928841:NM_001304433:exon2:c.4038_4073del:p.R1373_A1384del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	0.0010	0.0007	0.0008	0.0002	0.0005	0.0012	0.0002	0.0005	0.0001	0.0009	0.0030	0.0009	0.0008	0.0011	0.0007	0.0006	0.0008	0.0007	0.0011	0	0.0008	0.0010	0	0.0006	0	0.0010	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.38	37	chr13	113404116	.	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T,*	155.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.58;DP=2182;ExcessHet=0.1128;FS=1.118;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.79;MQRankSum=-7.640e-01;QD=0.29;ReadPosRankSum=0.729;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,9,0:60:99:.:.:169,0,1939,315,1954,2266	18	0	1	1
chr13	113404116	113404152	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	0	exonic	LOC101928841	.	.	.	.	.	11	175	1	0	39	40	0.002849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.38	37	chr13	113404116	.	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T,*	155.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.58;DP=2182;ExcessHet=0.1128;FS=1.118;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.79;MQRankSum=-7.640e-01;QD=0.29;ReadPosRankSum=0.729;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,9,0:60:99:.:.:169,0,1939,315,1954,2266	18	0	1	1
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:51,0,9:60:99:.:.:169,315,2266,0,1954,1939	4	5	6	3
chr14	18601706	18601706	G	A	exonic	OR11H12	.	nonsynonymous SNV	OR11H12:NM_001013354:exon1:c.G590A:p.G197E,	.	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.781	P	0.43	B	0.001	D	0.987	N	1.405	L	8.8	T	-1.008	T	0.000	T	0.315	0.644	7.456	0.585	0.619	-1.873	4.458	0.065	0.00462199078438	.	.	0.0007	0.0010	0.0095	0	0	0.0002	0	0	3.84e-05	1	26028	rs748013299	1.098e-05	0.0003	1.092e-05	1.103e-05	0.0002	6.5e-06	5.26e-06	0.0001	7.382e-05	0	0.0001	0	0.0002	0	0	9.001e-07	0	1.162e-05	0.0004	0.0020	0.0003	0.0005	0.0032	0.0003	0.0003	0.0025	0.0022	4.961e-05	0	0.0032	0	0.0010	0	0	7.505e-05	0.0005	0.0009	0.069	0.35537	T	0.399	0.15059	T	0.781	0.44300	P	0.43	0.45392	B	0.000707	0.42254	D	0.000000	.	.	.	1.675	0.43121	L	8.8	0.00050	T	-4.77	0.80425	D	0.122	0.11340	-1.0080	0.27541	T	0.000	0.00114	T	9	0.011298597	0.00248	T	0.004622	0.11440	T	0.065	0.18881	.	.	0.404793603054	0.40094	0.06917515607333054	0.06855	3.52078213034	0.99770	0.306855976582	0.11431	T	0.014086	0.12058	T	-0.250975	0.13978	T	-0.598285	0.12955	T	0.146298558948791	0.16805	T	0.518348	0.16810	T	0.35167694	0.57197	0.23873909	0.49204	0.35167694	0.57197	0.23873909	0.49203	-7.202	0.55496	T	.	.	0.128	0.27283	B	.	.	2.292536	0.29327	18.09	0.86779382392739934	0.16767	0.00328	0.01715	N	AEFI	0.026172	0.01919	N	-0.831145875182917	0.12519	0.6107228	-1.03730447137808	0.08973	0.4439269	1.23754932233703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.252000	0.02990	.	.	0.221000	0.18078	0.000000	0.06391	0.978000	0.30204	0.210000	0.22183	0.0:0.4258:0.5742:1.0E-4	4.458	0.11075	.	.	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	0.025	143.33	262	chr14	18601706	.	G	A	143.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.17;DP=5484;ExcessHet=0.0000;FS=2.669;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=32.27;MQRankSum=1.12;QD=0.60;ReadPosRankSum=-1.493e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,29:237:99:0|1:18601706_G_A:157,0,7278:18601706	19	0	1	1
chr14	19413371	19413371	C	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon9:c.G1392T:p.E464D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.944	P	0.446	B	.	.	1.000	N	0.975	L	1.43	T	-1.055	T	0.050	T	0.257	1.140	9.645	-0.621	-0.210	-0.741	4.013	0.084	0.0012850884948	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455494252	0.0007	0.0012	0.0005	0.0010	0.0077	0.0007	0.0007	0.0072	0.0069	9.939e-05	0.0002	0	0.0001	0.0001	0.0025	0.0003	0.0008	0.0077	0.0001	0.0005	0.0001	0.0001	0.0021	6.691e-05	5.081e-05	0.0007	0.0004	0	0	0	0	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	0.475	0.12072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.66	0.19085	N	0.089	0.06720	-1.0548	0.13093	T	0.050	0.21378	T	8	0.0747537	0.11466	T	0.001285	0.01759	T	.	.	0.261	0.20473	0.0934897674506	0.08844	0.011699981048302372	0.01129	.	.	0.731519818306	0.71728	T	0.003934	0.03343	T	-0.198075	0.21082	T	-0.522298	0.20062	T	0.156079471010915	0.17578	T	0.686031	0.29438	T	0.047692206	0.08195	0.07661035	0.16986	0.047692206	0.08194	0.07661035	0.16985	-4.393	0.29462	T	.	.	0.134	0.29060	B	.	.	0.704465	0.10733	7.423	0.98525236240178171	0.42520	0.00743	0.03099	N	AEFI	0.031355	0.03337	N	-1.07052320312634	0.07191	0.3333102	-1.28723328962108	0.04602	0.2174681	1.18907660551628E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-0.621	0.10984	-0.917000	0.04134	-1.365000	0.05612	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5474:0.0:0.4526	4.013	0.09117	994	0.00715	.	.	.	.	.	.	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	1	0	0	0	0.04762	66.73	36	chr14	19413371	.	C	A	66.73	.	AC=2;AF=0.048;AN=42;DP=466;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8800;MLEAC=1;MLEAF=0.024;MQ=25.00;QD=22.24;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	20	1	0	0
chr14	19434034	19434034	G	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C256G:p.H86D,	.	.	427	1069	26	0	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	B	0.039	B	.	.	1.000	N	1.24	L	1.49	T	-1.032	T	0.050	T	0.272	-0.159	3.224	.	0.483	-0.566	.	0.007	0.00156188237123	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146829084	0.0014	0.0017	0.0010	0.0018	0.0146	0.0014	0.0013	0.0139	0.0136	0.0003	0.0004	0.0005	3.132e-05	0.0002	0.0093	0.0007	0.0017	0.0146	0.0009	0.0012	0.0007	0.0012	0.0128	0.0008	0.0008	0.0101	0.0091	0.0001	0	0.0009	0.0009	0	0.0005	0.0043	0.0007	0.0025	0.0128	0.025	0.47320	D	0.263	0.22828	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-1.1	0.28497	N	0.264	0.29889	-1.0316	0.19937	T	0.050	0.21339	T	6	0.008307308	0.00188	T	0.001562	0.02471	T	.	.	0.322	0.30226	0.200294437569	0.19612	0.016831770812088642	0.01638	.	.	0.592665612698	0.51870	T	0.006287	0.05726	T	-0.246989	0.14471	T	-0.592559	0.13445	T	0.0595772515591679	0.07101	T	0.623938	0.24053	T	0.052697938	0.09867	0.12936428	0.31105	0.052697938	0.09866	0.12936428	0.31105	-7.677	0.58848	D	.	.	0.089	0.12132	B	.	.	0.887264	0.12606	9.133	0.71549487364888009	0.09667	0.00673	0.02898	N	AEFI	0.031461	0.03370	N	-1.08682113796644	0.06885	0.3182525	-1.24599346805238	0.05190	0.2467232	1.24656028350294E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.835000	0.04494	-1.086000	0.06374	0.202000	0.17929	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	.	.	.	994	0.00715	.	.	.	.	.	.	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	1	0	0	0	0.04167	2791.24	687	chr14	19434034	.	G	C	2791.24	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-6.380e+00;DP=15017;ExcessHet=0.0000;FS=4.688;InbreedingCoeff=0.1429;MLEAC=2;MLEAF=0.083;MQ=40.11;MQRankSum=14.15;QD=5.90;ReadPosRankSum=7.27;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,143:473:99:0|1:19434034_G_C:2801,0,10825:19434034	11	0	1	9
chr14	19713214	19713214	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C703A:p.L235I,	.	.	490	1002	29	0	1	30	0.0142646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0043	0.0183	0.0016	0.0007	0.0061	0.0021	0.0055	0.0079	0.0005379	14	26028	rs11625510	0.0006	0.0020	0.0005	0.0007	0.0081	0.0006	0.0006	0.0073	0.0070	0.0081	0.0014	7.672e-05	0.0001	0.0001	0.0024	0.0002	0.0012	0.0037	0.0035	0.0071	0.0034	0.0036	0.0100	0.0033	0.0032	0.0091	0.0088	0.0100	0	0.0041	0.0003	0.0010	0.0007	0	0.0003	0.0041	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	0.63811	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014848262	0.00312	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.038699843034994984	0.03815	.	.	0.206101313233	0.00656	T	0.017617	0.14339	T	-0.365507	0.03828	T	-0.291687	0.45596	T	.	.	.	0.435056	0.11905	T	0.043666393	0.06845	0.06603164	0.13469	0.043666393	0.06844	0.06603164	0.13468	-7.403	0.56926	T	.	.	0.106	0.19639	B	.;.	.;.	1.839262	0.23369	15.99	0.48104264887094	0.03987	0.02495	0.06976	N	AEFI	.	.	.	.	.	.	.	.	.	1.96441500582416E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0629501	0.15071	1.26	1.26	0.20534	-0.278000	0.08523	-5.907000	0.01557	-1.117000	0.01478	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.245:0.0:0.755:0.0	3.672	0.07814	994	0.00715	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	0.075	4358.77	33	chr14	19713214	.	G	T	4358.77	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-1.674e+00;DP=1966;ExcessHet=0.3476;FS=4.030;InbreedingCoeff=-0.0811;MLEAC=3;MLEAF=0.075;MQ=37.58;MQRankSum=-1.061e+00;QD=7.05;ReadPosRankSum=-1.705e+00;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,61:297:99:0|1:19713214_G_T:1765,0,9589:19713214	17	0	3	1
chr14	19713218	19713218	A	C	exonic	OR11H2	.	stopgain	OR11H2:NM_001197287:exon2:c.T699G:p.Y233X,	.	.	494	1010	18	0	0	18	0.00883219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0032	0.0084	0.0016	0.0007	0.0060	0.0015	0.0053	0.0077	0.0005379	14	26028	rs527586639	0.0005	0.0016	0.0004	0.0006	0.0057	0.0005	0.0005	0.0050	0.0048	0.0057	0.0006	3.838e-05	5.045e-05	0.0002	0.0020	0.0001	0.0008	0.0035	0.0020	0.0035	0.0019	0.0022	0.0062	0.0019	0.0018	0.0056	0.0053	0.0062	0	0.0005	0	0	0.0006	0	0.0002	0.0030	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.262912	0.12561	T	-0.615431	0.11547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.543909	0.71454	25.7	0.40378863356225114	0.02846	0.20109	0.20918	N	AEFI	.	.	.	.	.	.	.	.	.	5.45440546672236E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.12258	0.24918	1.26	-0.132	0.12831	-1.589000	0.02208	-6.001000	0.01527	-0.658000	0.04364	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.8017:0.0:0.1983:0.0	4.878	0.13025	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05263	3448.55	33	chr14	19713218	.	A	C	3448.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=8.59;DP=1976;ExcessHet=0.1128;FS=5.985;InbreedingCoeff=-0.0667;MLEAC=2;MLEAF=0.053;MQ=37.89;MQRankSum=0.019;QD=6.92;ReadPosRankSum=1.30;SOR=1.010	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,62:302:99:0|1:19713214_G_T:1779,0,9703:19713214	17	0	2	2
chr14	19713679	19713679	T	C	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.A238G:p.N80D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0031	0	0.0030	0	0	0	0	3.84e-05	1	26028	rs771995552	0.0002	0.0006	0.0003	0.0002	0.0030	0.0002	0.0002	0.0025	0.0023	0.0030	0.0003	0	0.0004	0.0001	0	0.0001	0.0004	0.0002	0.0011	0.0016	0.0011	0.0010	0.0030	0.0009	0.0008	0.0025	0.0024	0.0030	0	0.0005	0	0.0006	0.0005	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	0.89537	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038661778	0.02300	T	.	.	.	.	.	.	.	0.202086224978	0.19791	0.19289072824617917	0.19207	.	.	0.372312784195	0.21163	T	0.162618	0.50735	T	0.0523662	0.58646	T	-0.162556	0.58122	T	.	.	.	0.645735	0.25721	T	0.11414049	0.26949	0.17386891	0.39743	0.11414049	0.26949	0.17386891	0.39742	-9.283	0.69500	D	.	.	0.186	0.47997	B	.;.	.;.	3.843768	0.55634	23.6	0.34515933490142842	0.02116	0.86254	0.45499	D	AEFI	.	.	.	.	.	.	.	.	.	4.08349673556562E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.110892	0.23672	1.06	1.06	0.19341	1.582000	0.36177	2.162000	0.30989	0.461000	0.21595	0.618000	0.27897	0.051000	0.21832	0.003000	0.05239	0.0:0.0:0.383:0.617	3.996	0.09050	994	0.00715	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	0	0	0	0	0	0	0	0	0	0	0	0.025	35.37	5	chr14	19713679	.	T	C	35.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.961e+00;DP=503;ExcessHet=0.0000;FS=19.117;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.025;MQ=34.06;MQRankSum=1.46;QD=1.96;ReadPosRankSum=-2.492e+00;SOR=2.775	GT:AD:DP:GQ:PL	0/1:15,3:18:49:49,0,469	19	0	1	1
chr14	21670621	21670621	C	T	exonic	OR4E1	.	nonsynonymous SNV	OR4E1:NM_001317107:exon1:c.G315A:p.M105I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399647071	8.052e-06	9.542e-06	1.633e-05	0	0.0006	1.34e-06	5e-07	.	.	0	0	0	0	0	0.0006	6.31e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091584235	0.16056	T	.	.	.	.	.	.	.	.	.	0.10917285025132001	0.10846	.	.	.	.	.	0.008165	0.07514	T	.	.	.	.	.	.	.	.	.	0.711229	0.32236	T	0.21306947	0.43676	0.4642151	0.68901	0.21306947	0.43676	0.4642151	0.68901	-4.084	0.25054	T	.	.	0.496	0.64394	A	.;.	.;.	1.398067	0.18117	13.56	0.89646382657219881	0.18977	0.53151	0.29302	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0329767874756108	0.14082	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.95832	0.64543	4.98	4.98	0.65679	-2.192000	0.01330	-1.153000	0.06175	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.998000	0.85391	0.0:0.9117:0.0:0.0883	10.735	0.45316	759	0.50631	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.02381	1042.98	40	chr14	21670621	.	C	T	1042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.388e+00;DP=940;ExcessHet=0.0000;FS=0.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=-1.695e+00;SOR=0.829	GT:AD:DP:GQ:PL	0/1:72,45:117:99:1057,0,1978	20	0	1	0
chr14	23276449	23276449	C	T	exonic	HOMEZ	.	nonsynonymous SNV	HOMEZ:NM_020834:exon2:c.G779A:p.R260Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.013	B	0.006	B	0.751	N	1.000	N	0.695	N	1.96	T	-0.956	T	0.026	T	0.098	-1.013	0.242	0.12	-0.144	-0.798	2.687	0.042	0.00395751547084	.	.	4.142e-05	0	0	0	0	1.499e-05	0	0.0002	3.84e-05	1	26028	rs754351710	1.71e-05	1.71e-05	1.497e-05	1.925e-05	0.0001	1.174e-05	9.92e-06	7.997e-05	6.236e-05	0	0	0	2.519e-05	0	0	8.994e-06	3.313e-05	0.0001	2.628e-05	2.627e-05	1.284e-05	4.034e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.09	0.31987	T	0.437	0.15355	T	0.007	0.14184	B	0.003	0.08700	B	0.751494	0.09696	N	0.878989	1	0.08975	N	1.245	0.31408	L	1.96	0.22270	T	0.36	0.03700	N	0.086	0.09490	-0.9563	0.39861	T	0.026	0.10954	T	10	0.045953363	0.03728	T	0.003958	0.09368	T	0.042	0.11227	0.215	0.13498	0.180583059064	0.17676	0.21035496135806417	0.20951	0.277029944497	0.30173	0.25550994277	0.04370	T	9.72E-4	0.08389	T	-0.480885	0.00731	T	-0.668856	0.07682	T	0.0158105255509071	0.00369	T	0.690631	0.30012	T	0.06829913	0.14868	0.057703607	0.10537	0.06829913	0.14868	0.057703607	0.10536	-2.573	0.06300	T	.	.	0.070	0.08368	B	.;.;.	.;.;.	-0.101569	0.03631	0.721	0.70244898355177854	0.09233	0.05294	0.11139	N	AEFBCI	0.078903	0.15928	N	-1.0919520303343	0.06790	0.3136144	-1.10371245765033	0.07629	0.3718422	0.994271635931118	0.33564	0.706298	0.61202	0	0.709663	0.81188	0	0.693144	0.63139	0	0.635551	0.53088	0	.	.	5.28	0.12	0.13994	-0.246000	0.08896	-1.043000	0.06508	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1384:0.4405:0.2686:0.1525	2.687	0.04795	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1690.98	42	chr14	23276449	.	C	T	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=1437;ExcessHet=0.0000;FS=4.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=2.12;SOR=1.104	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1705,0,1693	20	0	1	0
chr14	23375644	23375644	C	T	exonic	IL25	.	nonsynonymous SNV	IL25:NM_022789:exon2:c.C298T:p.R100W	.	.	432	1072	18	0	0	18	0.00832562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	0.732	D	2.685	M	-0.47	T	0.126	D	0.420	T	0.695	3.654	18.58	3.68	1.141	2.260	8.792	0.437	0.118937440215	0.0008	0.000798722	0.0005	0.0004	0.0004	0	0	0.0007	0.0011	0.0005	0.0005239	81	154602	rs145160878	0.0006	0.0006	0.0005	0.0006	0.0108	0.0005	0.0005	0.0086	0.0079	0.0010	0.0008	0.0029	7.557e-05	5.618e-05	0.0108	0.0004	0.0012	0.0005	0.0005	0.0005	0.0005	0.0006	0.0006	0.0004	0.0004	0.0005	0.0004	0.0003	0.0011	0.0006	0.0023	0	0	0.0102	0.0006	0.0014	0.0006	0.001	0.78490	D	0.0	0.92824	D	0.917	0.90584	P	0.291	0.81110	B	0.000118	0.50451	D	0.000000	0.732341	0.33732	D	3.185	0.88900	M	-0.47	0.70133	T	-7.97	0.96368	D	0.465	0.54496	0.126	0.84637	D	0.420	0.76523	T	10	0.06336105	0.08242	T	0.118937	0.79911	D	0.437	0.74164	.	.	0.889913079512	0.88882	0.7064501707649586	0.70587	0.475443501588	0.46719	0.498060941696	0.38557	T	0.840634	0.96280	D	-0.106146	0.35407	T	-0.0156035	0.69318	D	0.0995890461447737	0.12313	T	0.824718	0.48674	T	0.82282305	0.85411	0.7502174	0.85236	0.82282305	0.85412	0.7502174	0.85237	-9.613	0.72656	D	.	.	0.905	0.85185	P	.;.	.;.	6.019804	0.94358	34	0.99892346144251065	0.96589	0.85644	0.44799	D	AEFDBI	0.409822	0.48095	N	0.424992744841494	0.62801	4.502048	0.368338503091793	0.59619	4.141399	0.99929969107841	0.39042	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	4.57	3.68	0.41359	2.291000	0.43202	2.641000	0.33754	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8959:0.0:0.1041	8.792	0.34016	373	0.84140	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1045.98	35	chr14	23375644	.	C	T	1045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.38;ReadPosRankSum=-2.290e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1060,0,693	20	0	1	0
chr14	24151499	24151499	G	T	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_001310332:exon10:c.G1299T:p.Q433H	.	.	426	1095	1	0	0	1	0.000456413	.	.	1080420	RNF31-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.547	P	0.086	B	0.651	N	1.000	N	0	N	0.97	T	-1.048	T	0.051	T	0.196	-0.879	0.482	3.57	0.815	1.641	5.815	0.039	0.00546132068073	0.0010	0.00139776	0.0011	0.0005	0.0020	0	0.0014	0.0014	0.0011	0.0005	0.0011384	176	154602	rs184184005	0.0010	0.0010	0.0009	0.0010	0.0031	0.0009	0.0009	0.0027	0.0025	0.0004	0.0031	0.0013	0	0.0009	0.0014	0.0009	0.0010	0.0007	0.0014	0.0014	0.0014	0.0013	0.0043	0.0012	0.0011	0.0035	0.0032	0.0003	0	0.0043	0.0006	0	0.0007	0.0034	0.0016	0.0009	0.0008	0.251	0.17069	T	0.231	0.25061	T	0.547	0.38060	P	0.086	0.29521	B	0.651490	0.05926	N	1.167800	1	0.08975	N	-0.255	0.03828	N	0.97	0.42502	T	-0.9	0.24244	N	0.166	0.17553	-1.0478	0.15016	T	0.051	0.21689	T	10	0.005431026	0.00120	T	0.005461	0.14045	T	0.039	0.10176	0.272	0.22210	0.413703809202	0.40986	0.13764304558766002	0.13688	0.260701197531	0.28632	0.292051553726	0.09221	T	0.085033	0.37411	T	-0.549862	0.00292	T	-0.566918	0.15732	T	0.000835083746419487	0.00008	T	.	.	.	0.062491223	0.13058	0.044390026	0.05739	0.06331506	0.13318	0.051586643	0.08332	-6.654	0.51463	T	.	.	0.150	0.33133	B	.;.	.;.	1.322980	0.17275	13.06	0.70986381328551862	0.09477	0.14855	0.18620	N	AEFBHI	0.103656	0.20761	N	-0.579182752311747	0.19578	1.025744	-0.486492693095008	0.22524	1.223868	0.999967378799074	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	3.57	0.40014	1.058000	0.30114	3.466000	0.38548	0.676000	0.76740	0.014000	0.18986	0.991000	0.31484	0.516000	0.29383	0.162:0.3053:0.5327:0.0	5.815	0.17752	894	0.26265	.;E3 ubiquitin-protein ligase RNF31, UBA-like domain|Ubiquitin-associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2634.98	38	chr14	24151499	.	G	T	2634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.280e-01;DP=923;ExcessHet=0.0000;FS=2.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.296e+00;SOR=0.543	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2649,0,2535	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,21:98:60:0|1:24300433_G_A:60,0,2535:24300433	4	0	11	6
chr14	24631154	24631154	G	A	exonic	GZMB	.	stopgain	GZMB:NM_001346011:exon5:c.C625T:p.R209X	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	.	.	.	.	0.010	N	1.000	D	.	.	.	.	.	.	.	.	.	0.747	7.961	-10.3	-1.946	-7.710	9.600	.	.	7.7e-05	.	9.062e-05	0.0004	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs369959551	2.193e-05	2.189e-05	2.728e-05	1.652e-05	0.0002	1.587e-05	1.358e-05	1.78e-05	1.385e-05	2.992e-05	6.711e-05	0	0	0	0.0002	2.343e-05	1.658e-05	0	5.255e-05	5.25e-05	6.425e-05	4.031e-05	0.0002	2.556e-05	1.83e-05	3.244e-05	1.911e-05	9.63e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.009866	0.01256	N	3.353000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.738	0.73826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0172699	0.49240	T	0.0168516	0.71425	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Tolerant	.;.;.;.;High	5.932316	0.94103	33	0.60416975988035726	0.06458	0.03182	0.08166	N	AEFHCI	0.076546	0.15401	N	-0.853678292100109	0.11960	0.5801518	-1.32281821123176	0.04137	0.1944822	0.999999146031717	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	-10.3	0.00281	-7.381000	0.00048	-20.000000	0.00162	-1.648000	0.00830	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1947:0.0:0.1243:0.681	9.600	0.38765	253	0.90069	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;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	677.98	36	chr14	24631154	.	G	A	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=815;ExcessHet=0.0000;FS=8.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=-3.730e-01;SOR=1.688	GT:AD:DP:GQ:PL	0/1:38,29:67:99:692,0,858	20	0	1	0
chr14	35677991	35677991	T	C	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001330075:exon21:c.A4442G:p.E1481G	.	.	430	1091	1	0	0	1	0.000458085	.	.	702864	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.35	T	0.73	P	0.286	B	0.000	D	1.000	D	0.69	N	-0.47	T	-0.864	T	0.117	T	0.367	3.547	18.09	5.38	2.036	7.646	15.373	0.124	.	0.0009	0.00319489	0.0049	0.0019	0.0475	0.0008	0	0.0002	0.0033	0.0001	0.0046054	712	154602	rs148266372	0.0015	0.0015	0.0017	0.0013	0.0438	0.0014	0.0014	0.0422	0.0415	0.0010	0.0438	0	0.0008	0	0	7.645e-05	0.0012	6.965e-05	0.0037	0.0038	0.0030	0.0046	0.0315	0.0035	0.0034	0.0291	0.0282	0.0014	0	0.0315	0	0.0019	0	0	0.0002	0.0019	0.0004	0.023	0.48186	D	0.261	0.23298	T	0.062	0.31978	B	0.03	0.34536	B	0.000015	0.62929	D	0.116848	0.999774	0.48980	D	0.55	0.14455	N	-0.47	0.70133	T	-1.85	0.44094	N	0.294	0.41261	-0.8640	0.50973	T	0.117	0.41231	T	10	0.003970742	0.00077	T	.	.	.	0.124	0.34239	.	.	0.168254554758	0.16434	0.2718298507167534	0.27095	1.32223500528	0.83470	0.586012840271	0.50932	T	0.023934	0.21334	T	-0.338542	0.05490	T	-0.224031	0.52348	T	0.0152032870638134	0.00333	T	0.953705	0.82322	D	0.18409967	0.39709	0.19058302	0.42469	0.18409967	0.39709	0.19058302	0.42468	-8.188	0.64634	D	0.5160537097627915	0.58905	0.136	0.46949	B	.;.;.;.;.	.;.;.;.;.	4.176118	0.62829	24.5	0.99786777242371549	0.87308	0.98087	0.79488	D	AEFGBI	0.886102	0.81719	D	0.0535426480001212	0.44307	2.707042	0.235209863220506	0.51811	3.360591	0.999999999843554	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.528226	0.09195	0	.	.	5.38	5.38	0.77279	7.628000	0.82379	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.373	0.74294	571	0.70397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	789.98	35	chr14	35677991	.	T	C	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.778;DP=753;ExcessHet=0.0000;FS=3.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=8.000e-03;SOR=0.590	GT:AD:DP:GQ:PL	0/1:24,32:56:99:804,0,510	20	0	1	0
chr14	39247626	39247626	C	G	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.C1052G:p.A351G	.	.	429	1066	26	1	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.033	B	0.940	N	1.000	N	0.895	L	3.16	T	-1.003	T	0.075	T	0.05	0.509	6.757	3.49	0.238	0.999	10.844	0.053	.	0.0084	0.00319489	0.0067	0.0026	0.0048	0.0001	0.0041	0.0100	0.0132	0.0010	0.0067852	1049	154602	rs142210112	0.0088	0.0088	0.0091	0.0086	0.0227	0.0087	0.0087	0.0196	0.0184	0.0019	0.0059	0.0098	2.52e-05	0.0048	0.0227	0.0101	0.0098	0.0012	0.0075	0.0075	0.0080	0.0069	0.0112	0.0071	0.0070	0.0105	0.0103	0.0019	0	0.0111	0.0115	0	0.0056	0.0170	0.0112	0.0095	0.0010	0.148	0.30943	T	0.502	0.23984	T	0.01	0.18235	B	0.033	0.22329	B	0.939903	0.07588	N	1.036780	1	0.08975	N	1.525	0.38595	L	3.16	0.47130	T	-0.84	0.28906	N	0.117	0.10626	-1.0026	0.29168	T	0.075	0.30210	T	9	0.002502352	0.00038	T	.	.	.	0.053	0.14996	.	.	0.144782658237	0.14088	0.0588009675969487	0.05821	0.0278430330954	0.02857	0.224604547024	0.01592	T	0.051134	0.28794	T	-0.657052	0.00066	T	-0.707191	0.05441	T	0.0049388786877943	0.00053	T	0.69713	0.30670	T	0.037698407	0.04881	0.087413564	0.20316	0.037698407	0.04881	0.087413564	0.20316	-4.147	0.25980	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	1.117322	0.15028	11.53	0.92368043482850226	0.21773	0.14038	0.18189	N	AEFGBI	0.253085	0.37265	N	-0.97779777945423	0.09078	0.4282351	-0.912168101623188	0.11806	0.6037418	0.747455890449706	0.23307	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	3.49	0.39065	0.861000	0.27540	0.542000	0.19343	-0.165000	0.11486	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.2334:0.701:0.0:0.0656	10.844	0.45938	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1351.98	42	chr14	39247626	.	C	G	1351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=855;ExcessHet=0.0000;FS=1.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.929;SOR=0.564	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1366,0,1752	20	0	1	0
chr14	54991269	54991269	G	A	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_001008396:exon11:c.C916T:p.R306W	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.998	D	0.613	P	0.000	D	1.000	D	1.845	L	0.31	T	-0.589	T	0.279	T	0.371	3.117	16.41	3.51	0.236	3.768	16.587	0.209	0.0927290671828	0.0005	0.000599042	0.0002	0.0007	8.645e-05	0.0009	0	0.0001	0	0.0001	0.0002264	35	154602	rs140961762	0.0001	0.0001	0.0001	0.0001	0.0021	9.543e-05	9.023e-05	0.0012	0.0009	0.0010	6.708e-05	0	0.0005	0	0.0021	6.301e-05	0.0002	0.0001	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	6.542e-05	0	0.0002	0	0	0.0001	0	0	0.024	0.47745	D	0.025	0.56192	D	0.998	0.73220	D	0.613	0.51171	P	0.000466	0.44119	D	0.199804	0.977957	0.81001	D	2.34	0.67151	M	0.31	0.63911	T	-2.75	0.58407	D	0.401	0.51851	-0.5894	0.65245	T	0.279	0.65048	T	10	0.08469829	0.14221	T	0.092729	0.75944	D	0.209	0.49871	.	.	0.73047051839	0.72807	0.3243140998895205	0.32344	0.147686143266	0.16665	0.252163112164	0.03999	T	0.084803	0.37359	T	-0.28169	0.10489	T	-0.266559	0.48168	T	0.0959456739682746	0.11904	T	0.962404	0.85970	D	0.5306146	0.68865	0.27313003	0.53229	0.5306146	0.68866	0.27313003	0.53228	-9.685	0.78168	D	.	.	0.103	0.18622	B	.;.	.;.	3.873674	0.56256	23.7	0.99712744480523785	0.81423	0.96788	0.70942	D	AEFGBI	0.314110	0.41907	N	-0.0674457646601736	0.38826	2.28009	-0.100178108401659	0.35383	2.046466	0.210261951198439	0.18230	0.744818	0.98587	0	0.724815	0.89359	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.36	3.51	0.39297	3.649000	0.54157	4.454000	0.43433	-0.108000	0.15293	0.759000	0.29231	0.936000	0.28664	0.537000	0.29868	0.0:0.0:0.6544:0.3456	16.587	0.84580	708	0.56926	.;.	.	.	.	.	.	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	0.02381	921.98	34	chr14	54991269	.	G	A	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=763;ExcessHet=0.0000;FS=4.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-8.000e-01;SOR=1.240	GT:AD:DP:GQ:PL	0/1:47,36:83:99:936,0,1077	20	0	1	0
chr14	55351531	55351531	A	C	exonic	FBXO34	.	nonsynonymous SNV	FBXO34:NM_017943:exon2:c.A1141C:p.S381R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.603	P	0.165	B	0.659	N	1.000	N	1.61	L	2.2	T	-1.019	T	0.044	T	0.167	-0.222	2.925	2.93	0.989	1.411	6.001	0.030	0.00674510972346	.	0.000199681	9.884e-05	0	0.0002	0	0	0.0001	0	0.0001	0.0001035	16	154602	rs193046024	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	0.0002	0	0	0	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	7.087e-05	5.744e-05	9.048e-05	7.012e-05	2.406e-05	0	0.0001	0	0	0	0.0068	0.0002	0	0.0002	0.448	0.09048	T	0.28	0.21678	T	0.603	0.39389	P	0.165	0.35019	B	0.658598	0.05966	N	1.178280	1	0.08975	N	1.39	0.34934	L	2.2	0.18570	T	-1.09	0.28290	N	0.189	0.22228	-1.0186	0.24171	T	0.044	0.18906	T	10	0.071976215	0.10683	T	0.006745	0.17812	T	0.030	0.07022	0.392	0.41606	0.270447802918	0.26645	0.11191313462813925	0.11120	0.217102352539	0.24225	0.279802918434	0.07465	T	0.007313	0.06724	T	-0.444348	0.01219	T	-0.591338	0.13551	T	0.0510712109656769	0.05687	T	0.712229	0.32360	T	0.046032436	0.07637	0.04918281	0.07460	0.046032436	0.07637	0.04918281	0.07460	-5.187	0.38809	T	.	.	0.211	0.44055	B	.;.	.;.	1.982299	0.25182	16.67	0.91319867747681638	0.20581	0.74181	0.36285	D	AEFDBI	0.102693	0.20594	N	-0.389685222754561	0.25836	1.405449	-0.429164694327941	0.24145	1.320607	0.894757968252337	0.25937	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	2.93	0.33092	1.082000	0.30415	2.471000	0.32897	0.756000	0.94297	0.524000	0.27143	0.914000	0.28189	0.008000	0.08271	0.674:0.0:0.3259:0.0	6.001	0.18748	516	0.74704	.;.	.	.	.	.	.	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	0.02381	1914.98	114	chr14	55351531	.	A	C	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.436e+00;DP=1506;ExcessHet=0.0000;FS=0.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.777;SOR=0.772	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1929,0,2332	20	0	1	0
chr14	55640946	55640946	A	G	exonic	KTN1	.	nonsynonymous SNV	KTN1:NM_001079521:exon16:c.A1997G:p.H666R	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	1.0	D	0.998	D	0.000	D	1.000	N	1.355	L	1.51	T	-1.007	T	0.116	T	0.507	2.797	15.32	3.7	0.783	3.036	9.847	0.230	0.0130765026446	7.7e-05	.	3.339e-05	0	0	0	0	4.546e-05	0.0011	0	3.23e-05	5	154602	rs200602571	4.452e-05	4.515e-05	3.544e-05	5.369e-05	0.0032	3.579e-05	3.261e-05	0.0021	0.0017	0	2.239e-05	0	0	0	0.0032	3.151e-05	0.0001	2.322e-05	3.947e-05	3.94e-05	0	8.079e-05	8.836e-05	1.717e-05	1.131e-05	3.768e-05	2.579e-05	0	0	0	0	0	0	0	8.836e-05	0	0	0.224	0.52492	T	0.348	0.17585	T	0.998	0.90584	D	0.995	0.88582	D	0.000040	0.55875	D	0.000000	0.840081	0.28643	N	1.4	0.35362	L	1.5	0.31205	T	-1.92	0.48020	N	0.364	0.53445	-1.0071	0.27819	T	0.116	0.41053	T	10	0.26137197	0.43596	T	0.013077	0.32199	T	0.230	0.53062	.	.	0.298199939746	0.29431	0.2533112796642886	0.25245	0.0409708077607	0.04395	0.511316239834	0.40407	T	0.097	0.39939	T	-0.236413	0.15810	T	-0.351665	0.39015	T	0.392538964748383	0.28660	T	0.766723	0.39447	T	0.10327285	0.24410	0.15358192	0.36084	0.10327285	0.24410	0.15358192	0.36083	-3.702	0.21659	T	.	.	0.066	0.02228	B	.;.;.;.;.;.	.;.;.;.;.;.	3.580284	0.50466	22.9	0.98387214173160809	0.40915	0.97387	0.74426	D	AEFGBI	0.522355	0.54640	D	0.0952978119567655	0.46243	2.867729	0.0904378413895831	0.44065	2.69561	0.995715728603148	0.34283	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	4.87	3.7	0.41607	3.026000	0.49373	4.591000	0.43958	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.8472:0.0:0.0:0.1528	9.847	0.40198	386	0.83455	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1035.98	36	chr14	55640946	.	A	G	1035.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.810e+00;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=-6.800e-02;SOR=0.752	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1050,0,1452	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:49,20:69:99:130,0,897	0	0	21	0
chr14	62075225	62075225	A	G	exonic	SYT16	.	nonsynonymous SNV	SYT16:NM_001367654:exon3:c.A284G:p.E95G	.	.	432	1085	5	0	0	5	0.00229885	.	.	2354686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.935	D	0.002	N	1.000	N	1.955	M	3.58	T	-0.865	T	0.183	T	0.622	2.862	15.53	5.65	2.371	4.531	11.879	0.122	0.00494957336755	0.0002	.	0.0003	0	0	0	0	0.0003	0.0012	0.0006	0.0002135	33	154602	rs200718503	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	4.478e-05	0.0012	0	0	0.0016	0.0001	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	2.415e-05	0	0.0003	0.0020	0	0	0	0.0002	0.0024	0	.	.	.	0.069	0.43913	T	0.616	0.39820	P	0.347	0.42698	B	0.001843	0.37840	N	0.268308	1	0.08975	N	2.765	0.80766	M	.	.	.	.	.	.	0.44	0.47857	-0.8653	0.50878	T	0.183	0.53072	T	10	0.05507806	0.05965	T	0.00495	0.12473	T	.	.	.	.	0.476676017676	0.47298	0.24034885280259694	0.23948	.	.	0.330139964819	0.14955	T	0.092051	0.38923	T	-0.152198	0.27967	T	-0.126397	0.61274	T	0.191630457771616	0.19940	T	0.687731	0.32075	T	0.15478289	0.35016	0.31444454	0.57436	0.15478289	0.35016	0.31444454	0.57435	-3.411	0.15204	T	.	.	0.093	0.14247	B	.;.	.;.	2.587460	0.33558	19.38	0.99848893708914011	0.92838	0.90689	0.52076	D	AEFGBI	0.520647	0.54542	D	0.300652966553588	0.56181	3.78261	0.255353430962218	0.52953	3.466967	0.0404734449315391	0.14441	0.516011	0.20929	0	0.547309	0.14657	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.65	5.65	0.86881	4.818000	0.62347	5.746000	0.49600	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.314000	0.24830	0.9309:0.0:0.0691:0.0	11.879	0.51841	842	0.36989	.;.	.	.	.	.	.	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	0.02381	1009.98	37	chr14	62075225	.	A	G	1009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.274e+00;DP=775;ExcessHet=0.0000;FS=3.123;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=-5.200e-01;SOR=1.077	GT:AD:DP:GQ:PL	0/1:37,40:77:99:1024,0,1088	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,8,0:8:24:316,24,0,316,24,316	0	19	0	0
chr14	71073643	71073643	C	G	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon25:c.C4618G:p.L1540V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.986	D	0.000	D	1.000	D	2.485	M	2.19	T	-0.614	T	0.189	T	0.918	4.580	24.9	4.97	2.751	3.602	18.799	0.234	0.0299911457101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.978	0.74104	D	0.000001	0.62929	D	0.059956	1	0.81001	D	2.85	0.82803	M	2.07	0.25678	T	-2.94	0.61435	D	0.731	0.73195	-0.6140	0.64238	T	0.189	0.54019	T	10	0.5418059	0.63762	D	0.029991	0.52391	D	0.234	0.53644	0.185	0.09388	0.381271297758	0.37743	0.7888197130044808	0.78833	1.20180106585	0.80564	0.64098161459	0.58704	T	0.407736	0.76326	T	0.257306	0.79279	D	0.131826	0.79011	D	0.9922696352005	0.82702	D	0.989401	0.96508	D	0.7499594	0.80866	0.6292892	0.78379	0.7499594	0.80867	0.6292892	0.78380	-11.607	0.83007	D	.	.	0.589	0.68433	P	.;.	.;.	4.434330	0.68789	25.3	0.99864898751759745	0.94276	0.97303	0.73904	D	AEFGBI	0.581448	0.58146	D	0.60440224524503	0.73454	5.968486	0.590991757161308	0.74292	6.112367	0.999999999890561	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	3.783000	0.55114	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.799	0.91973	775	0.48401	.;.	.	.	.	.	.	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	0.02381	1448.98	47	chr14	71073643	.	C	G	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.178;DP=916;ExcessHet=0.0000;FS=1.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.581;SOR=0.808	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1463,0,1774	20	0	1	0
chr14	71730293	71730293	C	T	exonic	SIPA1L1	.	nonsynonymous SNV	SIPA1L1:NM_001284246:exon17:c.C4853T:p.S1618L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.969	D	0.352	B	0.010	N	1.000	D	1.59	L	1.4	T	-0.972	T	0.102	T	0.741	3.122	16.43	5.47	2.560	5.565	19.322	0.187	0.0104303913702	.	0.00119808	0.0007	0	8.637e-05	0	0	9.022e-05	0	0.0049	0.0006015	93	154602	rs200944919	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	2.987e-05	0	0	0	3.744e-05	0.0003	1.079e-05	0.0003	0.0046	0.0002	0.0002	8.996e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0054	0.018	0.57480	D	0.029	0.57104	D	0.011	0.56768	B	0.007	0.42883	B	0.009956	0.30129	N	0.333421	0.999927	0.51308	D	2.22	0.62911	M	1.4	0.33630	T	-2.49	0.54217	N	0.687	0.74371	-0.9719	0.36798	T	0.102	0.37669	T	10	0.008533388	0.00193	T	0.01043	0.26958	T	0.187	0.46274	0.144	0.04746	0.253981072376	0.25009	0.3640486020568472	0.36318	0.328058604343	0.34932	0.742646217346	0.73362	T	0.182	0.53453	T	-0.258925	0.13026	T	-0.144026	0.59767	T	0.0875922887815413	0.10929	T	0.961204	0.85427	D	0.1542624	0.34925	0.16111445	0.37492	0.1542624	0.34924	0.16111445	0.37491	-3.504	0.16501	T	.	.	0.209	0.43572	B	.;.;.;.	.;.;.;.	3.957713	0.58026	23.9	0.99847012522447365	0.92663	0.99522	0.97031	D	AEFGBI	0.611102	0.59968	D	0.249476774683396	0.53612	3.529404	0.345387085775125	0.58229	3.992387	0.999999999985724	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	5.954000	0.70017	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:1.0:0.0:0.0	19.322	0.94233	683	0.59664	.;Signal-induced proliferation-associated 1-like protein, C-terminal;.;Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1561.98	33	chr14	71730293	.	C	T	1561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-5.520e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1576,0,1326	20	0	1	0
chr14	73522681	73522681	G	A	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon2:c.C472T:p.R158W	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.0	B	0.518	N	1.000	N	0	N	0.9	T	-1.025	T	0.057	T	0.089	1.632	11.42	0.889	0.142	0.163	5.534	0.018	0.00596567643586	0.0008	0.00139776	0.0013	0	8.64e-05	0.0027	0	0.0005	0	0.0056	0.0011125	172	154602	rs145939433	0.0010	0.0010	0.0008	0.0012	0.0063	0.0010	0.0009	0.0059	0.0057	2.987e-05	6.708e-05	0	0.0036	1.872e-05	0.0009	0.0007	0.0007	0.0063	0.0006	0.0006	0.0005	0.0007	0.0058	0.0005	0.0005	0.0041	0.0036	0.0002	0	6.537e-05	0.0003	0.0015	0	0	0.0007	0.0005	0.0058	0.061	0.37118	T	0.216	0.35205	T	0.001	0.07471	B	0.0	0.01387	B	0.517974	0.05185	N	1.262640	1	0.08975	N	-0.69	0.01958	N	0.9	0.45248	T	-1.46	0.49187	N	0.066	0.04307	-1.0246	0.22214	T	0.057	0.23791	T	10	0.0062227845	0.00140	T	0.005966	0.15549	T	0.018	0.03083	.	.	0.306695030598	0.30287	0.22865694158049005	0.22780	0.11634527342	0.13123	0.174315273762	0.00052	T	0.005674	0.05119	T	-0.654188	0.00068	T	-0.709999	0.05295	T	0.00953288223979754	0.00123	T	0.434357	0.11884	T	0.034963038	0.04025	0.045098748	0.05992	0.034963038	0.04025	0.045098748	0.05992	-4.675	0.33100	T	.	.	0.073	0.06114	B	.;.;.	.;.;.	1.042821	0.14237	10.81	0.89390286589454981	0.18755	0.08523	0.14441	N	AEFI	0.152938	0.27771	N	-1.46860831792126	0.02075	0.09123948	-1.41097599519014	0.03141	0.1459657	0.0706371126631476	0.15535	0.553676	0.25195	0	0.588015	0.36545	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	6.07	0.889	0.18346	0.153000	0.16140	0.999000	0.23247	-2.839000	0.00176	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1446:0.0:0.459:0.3963	5.534	0.16292	271	0.89373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1431.98	41	chr14	73522681	.	G	A	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=934;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.159;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,51:94:99:0|1:73522681_G_A:1446,0,1632:73522681	20	0	1	0
chr14	75980812	75980812	T	G	exonic	TGFB3	.	nonsynonymous SNV	TGFB3:NM_001329938:exon1:c.A82C:p.T28P	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant	.	0	1515	6	1	0	8	0.00263331	.	.	241896	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Rienhoff_syndrome|not_provided|Arrhythmogenic_right_ventricular_dysplasia_1	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582|MedGen:C3661900|MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.978	D	0.828	P	0.000	D	1.000	D	1.7	L	-0.14	T	-0.445	T	0.317	T	0.857	2.906	15.68	4.65	1.868	5.048	13.376	0.427	0.057687750084	.	0.000199681	0.0001	0	0	0	0.0002	4.495e-05	0	0.0006	9.7e-05	15	154602	rs564013964	4.309e-05	4.309e-05	2.722e-05	5.913e-05	0.0014	3.442e-05	3.129e-05	0.0007	0.0005	0	0	0	5.038e-05	1.872e-05	0.0014	8.093e-06	0.0001	0.0004	2.631e-05	2.626e-05	1.286e-05	4.037e-05	0.0002	8.15e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0.0005	0.0002	0.048	0.47745	D	0.054	0.47097	T	0.978	0.58756	D	0.828	0.59497	P	0.000000	0.84330	D	0.000000	0.999829	0.49512	D	1.735	0.44892	L	-0.14	0.65006	T	-1.27	0.35792	N	0.204	0.28732	-0.4447	0.70575	T	0.317	0.68637	T	10	0.16817605	0.31354	T	0.057688	0.67052	D	0.427	0.73445	.	.	0.819186829257	0.81748	0.4155835036557827	0.41474	1.66393245162	0.89724	0.576532065868	0.49596	T	0.442459	0.78661	T	0.0123334	0.53343	T	0.101906	0.77034	D	0.241325313962933	0.22480	T	0.519248	0.29288	T	0.5239688	0.68486	0.58034986	0.75677	0.5239688	0.68487	0.58034986	0.75678	-5.74	0.44048	T	.	.	0.162	0.35746	B	.;.	.;.	3.408959	0.47284	22.4	0.99011646938320275	0.50377	0.91389	0.53435	D	AEFDGBCI	0.882908	0.81141	D	0.517933877809326	0.68151	5.177859	0.504873547102787	0.68318	5.203522	0.999999985237554	0.74766	0.764865	0.99124	0	0.588066	0.40923	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.65	4.65	0.57626	5.069000	0.64199	6.224000	0.55156	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.376	0.60185	883	0.28872	TGF-beta, propeptide;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2168.11	34	chr14	75980812	.	T	G	2168.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=872;ExcessHet=0.1072;FS=3.205;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.78;SOR=0.952	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1265,0,1240	19	0	2	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,7,0:20:99:0|1:77027445_C_T:254,0,525,294,546,840:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,7,0:20:99:0|1:77027445_C_T:254,0,525,294,546,840:77027445	6	6	8	0
chr14	77482469	77482469	G	T	exonic	ISM2	.	nonsynonymous SNV	ISM2:NM_199296:exon4:c.C826A:p.P276T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.068	B	0.019	B	0.001	N	1.000	N	0.69	N	2.34	T	-1.016	T	0.035	T	0.079	0.257	5.388	-1.2	-0.114	0.283	4.226	0.024	0.00313732270443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866927624	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.56	0.09113	T	0.068	0.23728	B	0.009	0.14300	B	0.000830	0.00693	N	4.560390	1	0.08975	N	0.805	0.20218	L	2.01	0.21291	T	-1.19	0.30346	N	0.172	0.18376	-1.0157	0.25110	T	0.035	0.14943	T	10	0.05666408	0.06388	T	0.003137	0.06845	T	0.024	0.04979	0.172	0.07774	0.0297737177859	0.01360	0.04944865873291665	0.04887	0.145403873013	0.16431	0.208170905709	0.00736	T	0.001393	0.00857	T	-0.339996	0.05388	T	-0.726157	0.04503	T	0.39786621928215	0.28862	T	0.332967	0.07033	T	0.03959403	0.05495	0.041287348	0.04657	0.03959403	0.05495	0.041287348	0.04657	-2.959	0.09746	T	.	.	0.074	0.05145	B	.	.	0.359808	0.07324	3.939	0.14673125364902462	0.00332	0.13259	0.17754	N	AEFDBI	0.135594	0.25598	N	-1.14774272114342	0.05816	0.2661762	-1.18722573780502	0.06122	0.2937383	0.398284760484994	0.20108	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.01	-1.2	0.09062	0.294000	0.18803	0.054000	0.14040	-0.718000	0.03832	0.061000	0.21800	0.000000	0.08366	0.002000	0.04165	0.0803:0.3533:0.3469:0.2195	4.226	0.10034	810	0.42761	.	.	.	.	.	.	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	1	0	0	0	0.02381	1564.98	39	chr14	77482469	.	G	T	1564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.056e+00;DP=862;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-1.210e+00;SOR=0.733	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1579,0,1961	20	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:90,39:129:74:74,0,1380	5	0	16	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40,0,0,0,0,0:40:99:.:.:1667,116,0,1671,119,1675,1671,119,1675,1675,1671,119,1675,1675,1675,1671,119,1675,1675,1675,1675,1671,119,1675,1675,1675,1675,1675	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,42:107:99:.:.:329,0,1122	0	0	21	0
chr14	94498151	94498151	A	C	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.T247G:p.F83V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.908	P	0.000	D	0.996	D	2.955	M	-1.88	D	0.638	D	0.747	D	0.66	2.698	14.98	5.45	2.065	1.821	10.687	0.576	0.0412245408387	.	0.000399361	9.06e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs577934046	3.762e-05	3.762e-05	2.722e-05	4.813e-05	0.0006	2.959e-05	2.655e-05	0.0005	0.0004	0	0	0	0	0	0.0005	0	3.311e-05	0.0006	3.284e-05	3.281e-05	2.571e-05	4.03e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.006	0.61437	D	0.02	0.58613	D	0.995	0.67487	D	0.908	0.64494	P	0.000011	0.62929	D	0.000000	0.995639	0.42782	D	3.295	0.90403	M	-1.88	0.84487	D	-6.05	0.89796	D	0.614	0.63035	0.638	0.92387	D	0.747	0.91351	D	10	0.2999292	0.47543	T	0.041225	0.59811	D	0.576	0.82855	0.547	0.66156	0.536616348568	0.53311	0.5377268505949899	0.53697	0.182636527527	0.20529	0.478205233812	0.35809	T	0.261044	0.63248	T	-0.0806453	0.39611	T	0.00275966	0.70515	D	0.863178074359894	0.51343	D	0.714629	0.32694	T	0.93407696	0.94646	0.7861551	0.87408	0.93407696	0.94647	0.7861551	0.87408	-6.987	0.53939	T	.	.	0.362	0.59268	A	.;.	.;.	3.966289	0.58211	24.0	0.98738263625542977	0.45467	0.89915	0.50698	D	AEFDCI	0.325512	0.42707	N	0.505468996328599	0.67412	5.078294	0.396148540943045	0.61325	4.33127	0.99912126185198	0.38507	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	1.903000	0.39488	4.639000	0.44147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.9254:0.0:0.0746:0.0	10.687	0.45044	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5235.08	38	chr14	94498151	.	A	C	5235.08	.	AC=2;AF=0.048;AN=42;DP=1042;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.52;SOR=0.985	GT:AD:DP:GQ:PL	1/1:0,161:161:99:5263,482,0	20	1	0	0
chr14	94563637	94563637	C	T	exonic	SERPINA4	.	nonsynonymous SNV	SERPINA4:NM_001289032:exon2:c.C266T:p.A89V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.599	P	0.133	B	0.058	N	1.000	N	0	N	-1.72	D	-0.821	T	0.221	T	0.165	2.929	15.76	1.47	0.077	-0.868	5.383	0.218	0.0768006196663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.23	0.25135	T	0.423	0.35444	B	0.111	0.31539	B	0.058138	0.22426	N	0.350509	1	0.08975	N	0	0.06538	N	-1.72	0.83241	D	-2.36	0.52128	N	0.045	0.01740	-0.8207	0.53890	T	0.221	0.58472	T	10	0.20522895	0.36742	T	0.076801	0.72618	D	0.218	0.51265	0.645	0.78224	0.889553964157	0.88846	0.34988188446030477	0.34902	0.0526298330778	0.05794	0.236814707518	0.02510	T	0.491794	0.81601	T	-0.0913226	0.37857	T	-0.368955	0.37010	T	0.165165966369359	0.18245	T	0.460354	0.13329	T	0.14749898	0.33716	0.101475716	0.24295	0.14749898	0.33716	0.101475716	0.24294	-4.062	0.24728	T	.	.	0.125	0.26451	B	.;.;.	.;.;.	1.046945	0.14277	10.86	0.99516705182428822	0.68979	0.11892	0.16928	N	AEFDBI	0.746434	0.68881	D	-0.812557023533029	0.12990	0.6368228	-0.852397934262335	0.13230	0.6851804	0.987134348709875	0.31191	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.38	1.47	0.21832	0.288000	0.18695	-0.860000	0.07144	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.158000	0.20581	0.1489:0.6186:0.0:0.2325	5.383	0.15501	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	4160.08	33	chr14	94563637	.	C	T	4160.08	.	AC=2;AF=0.048;AN=42;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.82;SOR=0.801	GT:AD:DP:GQ:PL	1/1:0,135:135:99:4188,405,0	20	1	0	0
chr14	100539225	100539225	C	T	exonic	BEGAIN	.	nonsynonymous SNV	BEGAIN:NM_001385100:exon5:c.G442A:p.D148N	.	.	426	1093	3	0	0	3	0.00137049	.	.	725551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.996	D	0.000	D	1.000	D	2.22	M	0.62	T	-0.476	T	0.227	T	0.151	2.976	15.92	4.1	1.831	4.710	16.317	0.232	.	0.0050	0.00139776	0.0060	0.0020	0.0008	0	0.0102	0.0088	0.0044	0.0016	0.0049094	759	154602	rs35286207	0.0061	0.0060	0.0063	0.0059	0.0071	0.0060	0.0059	0.0069	0.0069	0.0012	0.0009	0.0002	0	0.0089	0.0014	0.0071	0.0048	0.0014	0.0040	0.0040	0.0043	0.0037	0.0064	0.0037	0.0036	0.0059	0.0057	0.0015	0	0.0019	0.0006	0	0.0060	0	0.0064	0.0047	0.0014	0.057	0.37966	T	0.032	0.53426	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.62	0.53302	T	-3.07	0.66325	D	0.503	0.53532	-0.4758	0.69519	T	0.227	0.59196	T	10	0.007803142	0.00177	T	.	.	.	0.232	0.53354	.	.	0.72841694373	0.72600	0.3343493556656914	0.33347	1.2746776462	0.82377	0.594021260738	0.52061	T	0.369316	0.73405	T	-0.451186	0.01112	T	-0.415747	0.31564	T	0.00721857485333095	0.00083	T	0.963304	0.86656	D	0.2807056	0.51117	0.27013963	0.52902	0.2807056	0.51116	0.27013963	0.52901	-9.272	0.69431	D	.	.	0.139	0.38836	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.733984	0.53434	23.4	0.99685668445142439	0.79574	0.92040	0.54812	D	AEFBI	0.675372	0.64078	D	0.4640185274013	0.65002	4.768082	0.34840748579001	0.58411	4.011496	0.999999999997135	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.1	4.1	0.47196	3.963000	0.56480	5.764000	0.49701	0.587000	0.30956	0.998000	0.41325	1.000000	0.68203	0.122000	0.19250	0.0:1.0:0.0:0.0	16.317	0.82761	887	0.27948	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3741.08	41	chr14	100539225	.	C	T	3741.08	.	AC=2;AF=0.048;AN=42;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.66;SOR=1.207	GT:AD:DP:GQ:PL	1/1:0,122:122:99:3769,366,0	20	1	0	0
chr14	103108478	103108478	G	A	exonic	EXOC3L4	.	nonsynonymous SNV	EXOC3L4:NM_001077594:exon10:c.G1937A:p.R646Q,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.91	P	0.182	B	0.651	N	1.000	N	1.95	M	3.29	T	-0.987	T	0.011	T	0.22	1.282	10.19	-0.028	0.067	0.235	6.169	0.069	0.0239430674218	0.0027	0.00139776	0.0035	0.0006	0.0015	0.0001	0.0067	0.0047	0.0011	0.0027	0.0034023	526	154602	rs148718670	0.0031	0.0031	0.0030	0.0033	0.0042	0.0031	0.0030	0.0032	0.0031	0.0004	0.0016	0.0051	5.038e-05	0.0066	0.0042	0.0032	0.0032	0.0023	0.0035	0.0035	0.0036	0.0034	0.0049	0.0032	0.0032	0.0045	0.0043	0.0005	0.0570	0.0011	0.0052	0.0002	0.0070	0	0.0049	0.0033	0.0017	0.334	0.12961	T	0.034	0.52727	D	0.91	0.50240	P	0.182	0.35926	B	0.650602	0.10516	N	0.816109	1	0.08975	N	2.2	0.62015	M	3.29	0.06445	T	-1.07	0.27876	N	0.231	0.25989	-0.9865	0.33469	T	0.011	0.04227	T	10	0.0076559484	0.00174	T	0.023943	0.46920	T	0.069	0.20116	.	.	0.115124310173	0.11017	0.2663063714197273	0.26543	0.0382972999509	0.04077	0.278146058321	0.07235	T	0.001435	0.00891	T	-0.601614	0.00143	T	-0.633785	0.10130	T	0.00635878509147724	0.00071	T	0.750125	0.37153	T	0.059664056	0.12152	0.059761144	0.11269	0.059664056	0.12152	0.059761144	0.11269	-4.488	0.30731	T	.	.	0.088	0.11510	B	.	.	1.761469	0.22403	15.61	0.98874673944757863	0.47702	0.04259	0.09790	N	AEFDBHCI	0.083957	0.17012	N	-0.472227064416708	0.22995	1.231677	-0.633017471132988	0.18647	0.9970609	0.999999999993434	0.74766	0.608966	0.35542	0	0.468601	0.06657	0	0.769059	0.98459	0	0.562822	0.20929	0	.	.	4.14	-0.0279	0.13251	-0.687000	0.05257	0.027000	0.13676	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.191000	0.21631	0.4805:0.0:0.5195:0.0	6.169	0.19621	643	0.63827	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3406.11	34	chr14	103108478	.	G	A	3406.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.96;DP=987;ExcessHet=0.1072;FS=2.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-4.470e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/1:63,72:135:99:1889,0,1385	19	0	2	0
chr14	103754193	103754193	T	C	exonic	PPP1R13B	.	nonsynonymous SNV	PPP1R13B:NM_015316:exon6:c.A508G:p.I170V,	.	.	433	1069	20	0	0	20	0.00926784	.	.	714016	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.134	N	1.000	D	-1.445	N	1.63	T	-0.974	T	0.007	T	0.078	1.133	9.616	-7.9	-1.141	-0.858	10.478	0.074	.	0.0055	0.00678914	0.0050	0.0075	0.0065	0.0006	0.0002	0.0045	0.0067	0.0085	0.0048706	753	154602	rs140395624	0.0039	0.0039	0.0038	0.0040	0.0199	0.0038	0.0038	0.0170	0.0159	0.0079	0.0073	0.0083	0.0002	0.0004	0.0199	0.0032	0.0067	0.0082	0.0044	0.0044	0.0045	0.0044	0.0083	0.0041	0.0040	0.0063	0.0055	0.0063	0	0.0061	0.0089	0.0002	9.439e-05	0.0136	0.0032	0.0128	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.133797	0.18538	N	0.591766	0.999954	0.19072	N	-1.245	0.00777	N	1.63	0.28002	T	0.42	0.03352	N	0.136	0.13341	-0.9740	0.36344	T	0.007	0.02399	T	10	0.002279222	0.00033	T	.	.	.	0.074	0.21613	.	.	0.193917141947	0.19028	0.053803183769524886	0.05322	0.313330889127	0.33626	0.321245968342	0.13610	T	0.077834	0.35750	T	-0.670969	0.00054	T	-0.73159	0.04256	T	0.00181427574698147	0.00018	T	0.770523	0.40040	T	0.023720741	0.01137	0.043258455	0.05342	0.023720741	0.01136	0.043258455	0.05342	-2.743	0.07671	T	.	.	0.054	0.00487	B	.;.	.;.	-1.387752	0.00369	0.007	0.6331488886692882	0.07191	0.06740	0.12762	N	AEFBI	0.065346	0.12741	N	-1.51365636546447	0.01759	0.07705352	-1.44292608912939	0.02835	0.1311378	0.815387870864254	0.24429	0.722319	0.85440	0	0.633656	0.55848	0	0.601832	0.32385	0	0.735409	0.98432	0	.	.	5.65	-7.9	0.01035	-0.854000	0.04407	-12.103000	0.00550	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.4082:0.4313:0.1605	10.478	0.43862	794	0.45591	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	872.98	42	chr14	103754193	.	T	C	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.139;SOR=0.795	GT:AD:DP:GQ:PL	0/1:47,34:81:99:887,0,1237	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	0/1:4,34,0:38:62:1409,0,62,1421,168,1589	11	3	4	0
chr14	104943566	104943566	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C11585T:p.T3862M	.	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.949	D	.	.	1.000	N	2.125	M	5.85	T	-0.897	T	0.001	T	0.053	1.921	12.38	0.646	0.659	.	7.274	0.040	.	0.0100	0.014377	0.0033	0.0324	0.0026	0	0	0.0006	0.0045	0.0004	0.0032665	505	154602	rs115776887	0.0014	0.0014	0.0015	0.0013	0.0391	0.0014	0.0013	0.0373	0.0366	0.0391	0.0028	0	2.519e-05	1.873e-05	0.0097	0.0003	0.0042	0.0003	0.0101	0.0100	0.0104	0.0097	0.0337	0.0096	0.0095	0.0322	0.0316	0.0337	0	0.0053	0	0	0	0.0068	0.0005	0.0090	0.0002	0.087	0.32453	T	0.102	0.38450	T	0.999	0.77913	D	0.949	0.68658	D	.	.	.	.	1	0.08975	N	1.7	0.43825	L	5.85	0.00643	T	-1.03	0.27052	N	0.131	0.12627	-0.8975	0.48244	T	0.001	0.00255	T	9	0.00330168	0.00057	T	.	.	.	0.040	0.10527	.	.	0.0666544352282	0.05500	0.012012170399585569	0.01160	.	.	0.218775361776	0.01240	T	0.021617	0.16804	T	-0.694067	0.00040	T	-0.744688	0.03696	T	0.00561337353458424	0.00061	T	0.422258	0.11242	T	0.014145603	0.00082	0.025520694	0.00599	0.014145603	0.00082	0.025520694	0.00599	-7.972	0.60879	D	.	.	0.118	0.24054	B	.	.	2.159669	0.27512	17.49	0.98437412873938401	0.41464	0.03208	0.08207	N	AEFBI	.	.	.	-0.314246213167776	0.28606	1.579237	-0.578729697712951	0.20048	1.078403	1.06738734432497E-4	0.05123	0.706548	0.73137	0	0.588066	0.40923	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.0	0.646	0.16961	-0.251000	0.08837	-4.000000	0.02402	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1322:0.4788:0.3889	7.274	0.25449	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	0.02381	6365.98	261	chr14	104943566	.	G	A	6365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.38;DP=6074;ExcessHet=0.0000;FS=1.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=-1.920e+00;QD=13.72;ReadPosRankSum=0.695;SOR=0.799	GT:AD:DP:GQ:PL	0/1:222,242:464:99:6380,0,8390	20	0	1	0
chr14	104944134	104944134	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G11017A:p.V3673I	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.001	B	0.001	B	.	.	1.000	N	0.04	N	4.92	T	-0.910	T	0.000	T	0.01	0.749	7.970	-8.86	-2.256	-5.627	4.487	0.022	.	0.0100	0.014377	0.0032	0.0322	0.0026	0	0	0.0005	0.0045	0.0003	0.003163	489	154602	rs146965608	0.0014	0.0014	0.0015	0.0012	0.0388	0.0013	0.0013	0.0370	0.0363	0.0388	0.0027	0	0	5.623e-05	0.0087	0.0002	0.0040	0.0003	0.0098	0.0099	0.0101	0.0095	0.0328	0.0094	0.0092	0.0314	0.0308	0.0328	0	0.0053	0	0	0	0.0068	0.0004	0.0095	0.0004	0.387	0.10945	T	0.408	0.14633	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.135	0.08676	N	4.92	0.01404	T	-0.43	0.14390	N	0.037	0.01135	-0.9102	0.46830	T	0.000	0.00075	T	9	0.0018815398	0.00025	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	0.0029900633999147244	0.00279	.	.	0.208940193057	0.00767	T	0.017415	0.14211	T	-0.804131	0.00007	T	-0.902787	0.00483	T	0.00672915509960129	0.00076	T	0.244176	0.03564	T	0.013245458	0.00053	0.017322784	0.00030	0.013245458	0.00053	0.017322784	0.00030	-7.3	0.56196	T	.	.	0.080	0.07745	B	.	.	-2.225659	0.00060	0.001	0.71937936984819606	0.09800	0.00209	0.01192	N	AEFBI	.	.	.	-2.10918558430222	0.00122	0.005230481	-2.19631987286994	0.00114	0.005015375	0.998176283241786	0.36530	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.43	-8.86	0.00686	-6.013000	0.00104	-20.000000	0.00162	-6.837000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0903:0.4064:0.2735:0.2298	4.487	0.11208	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	0.02381	5137.98	362	chr14	104944134	.	C	T	5137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.95;DP=7184;ExcessHet=0.0000;FS=3.438;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.784;SOR=0.888	GT:AD:DP:GQ:PL	0/1:172,186:358:99:5152,0,4135	20	0	1	0
chr14	104945396	104945396	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9755G:p.K3252R	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.993	D	0.86	P	.	.	1.000	N	2.87	M	4.69	T	-0.978	T	0.002	T	0.088	2.837	15.45	3.47	0.618	0.751	2.293	0.063	.	0.0077	0.0125799	0.0028	0.0282	0.0021	0	0	0.0004	0.0045	0.0003	0.002749	425	154602	rs138075057	0.0012	0.0012	0.0013	0.0011	0.0347	0.0012	0.0012	0.0330	0.0324	0.0347	0.0023	0	0	0	0.0087	0.0002	0.0037	0.0003	0.0088	0.0088	0.0090	0.0085	0.0293	0.0084	0.0082	0.0279	0.0273	0.0293	0	0.0050	0	0	0	0.0068	0.0004	0.0081	0.0002	0.17	0.22833	T	0.064	0.44905	T	0.993	0.65571	D	0.86	0.61233	P	.	.	.	.	1	0.08975	N	2.44	0.70756	M	4.69	0.01694	T	-2.22	0.49846	N	0.075	0.04913	-0.9777	0.35526	T	0.002	0.00526	T	9	0.00400424	0.00077	T	.	.	.	0.063	0.18251	.	.	0.0297737177859	0.01360	0.006047453387320562	0.00573	.	.	0.250723749399	0.03845	T	0.020423	0.16081	T	-0.634358	0.00090	T	-0.661675	0.08153	T	0.0272789370845872	0.01584	T	0.605739	0.22785	T	0.032743193	0.03357	0.043346673	0.05373	0.032743193	0.03356	0.043346673	0.05373	-8.849	0.66720	D	.	.	0.108	0.20469	B	.	.	1.125561	0.15115	11.60	0.99555581041220964	0.71459	0.08773	0.14652	N	AEFBI	.	.	.	-0.200672448861558	0.33107	1.874564	-0.433203375953433	0.24029	1.313606	4.27591382249096E-4	0.06935	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.65	3.47	0.38831	1.338000	0.33478	-1.241000	0.05933	-0.193000	0.09282	0.034000	0.20669	0.000000	0.08366	0.007000	0.07825	0.1564:0.0853:0.1629:0.5953	2.293	0.03889	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	0.02381	4403.98	415	chr14	104945396	.	T	C	4403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.667e+00;DP=8392;ExcessHet=0.0000;FS=2.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-7.850e-01;SOR=0.842	GT:AD:DP:GQ:PL	0/1:202,173:375:99:4418,0,5456	20	0	1	0
chr14	104945709	104945709	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9442G:p.I3148V	.	.	435	1085	2	0	0	2	0.00092081	.	.	2807401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.141	B	0.058	B	.	.	1.000	N	0.255	N	5.92	T	-0.939	T	0.001	T	0.147	-2.905	0.001	-2.8	-1.205	-0.440	3.483	0.012	0.00873463288523	.	.	7.494e-05	0.0001	8.639e-05	0	0	7.556e-05	0	0.0001	7.76e-05	12	154602	rs112299271	0.0001	0.0002	0.0001	0.0001	0.0035	9.679e-05	9.158e-05	0.0023	0.0019	0.0001	8.951e-05	0	2.519e-05	0	0.0035	9.899e-05	0.0002	9.28e-05	8.646e-05	0.0006	7.035e-05	0.0001	0.0001	4.901e-05	3.831e-05	5.414e-05	3.791e-05	7.526e-05	0	7.135e-05	0	0	0	0	0.0001	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.141	0.27581	B	0.058	0.26451	B	.	.	.	.	1	0.18198	N	-0.205	0.04094	N	5.92	0.00621	T	0.03	0.06612	N	0.031	0.00770	-0.9393	0.42727	T	0.001	0.00438	T	9	0.01993543	0.00452	T	0.008735	0.23050	T	0.012	0.01476	0.239	0.17065	0.0297737177859	0.01360	0.00520050722575818	0.00491	.	.	0.178495123982	0.00081	T	0.016629	0.13711	T	-0.468012	0.00875	T	-0.705493	0.05531	T	0.0187772940148703	0.00589	T	0.339966	0.07337	T	0.0141634615	0.00083	0.019809004	0.00105	0.0141634615	0.00083	0.019809004	0.00105	1.12	0.00117	T	.	.	0.081	0.08417	B	.	.	-1.974462	0.00107	0.002	0.19885651355239545	0.00691	0.04506	0.10129	N	AEFBI	.	.	.	-2.0555961544597	0.00160	0.006856328	-2.08901542942789	0.00197	0.008665702	2.82166859433212E-4	0.06355	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	3.11	-2.8	0.05477	-0.809000	0.04617	-20.000000	0.00162	-4.258000	0.00035	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1085:0.3889:0.1154:0.3872	3.483	0.07174	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	100.98	76	chr14	104945709	.	T	C	100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.550;DP=3412;ExcessHet=0.0000;FS=20.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.20;MQRankSum=-1.456e+00;QD=0.35;ReadPosRankSum=-2.241e+00;SOR=2.220	GT:AD:DP:GQ:PL	0/1:260,29:289:99:115,0,8498	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:354,123,0:477:99:0|1:104946204_C_T:3009,0,13252,4073,13621,17694:104946204	1	7	12	0
chr14	104946452	104946452	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8699T:p.S2900L	.	.	429	1091	2	0	0	2	0.000915751	.	.	2807410	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.934	P	0.332	B	.	.	0.717	N	2.52	M	5.52	T	-0.921	T	0.006	T	0.058	1.983	12.59	4.35	1.995	.	12.420	0.102	0.0138230851686	.	.	0.0008	0.0076	0.0004	0.0001	0	0.0001	0.0022	0.0001	0.0001921	5	26028	rs202121993	8.091e-05	0.0010	8.188e-05	7.993e-05	0.0016	6.884e-05	6.436e-05	0.0012	0.0011	0.0016	0.0002	0	0	1.875e-05	0	3.509e-05	0.0003	3.48e-05	0.0018	0.0078	0.0019	0.0017	0.0061	0.0016	0.0016	0.0055	0.0052	0.0061	0	0.0013	0	0.0006	0	0	7.383e-05	0.0025	0	0.04	0.42199	D	0.039	0.51112	D	0.934	0.52202	P	0.332	0.42135	B	.	.	.	.	0.716902	0.33576	D	2.25	0.63811	M	5.52	0.00903	T	-3.38	0.66780	D	0.144	0.14480	-0.9211	0.45403	T	0.006	0.02168	T	9	0.012268633	0.00264	T	0.013823	0.33509	T	0.102	0.29158	.	.	0.204665344411	0.20097	0.008659763540872278	0.00829	.	.	0.232950568199	0.02194	T	0.031531	0.22084	T	-0.300588	0.08604	T	-0.66955	0.07637	T	0.044716009564275	0.04550	T	0.717928	0.33070	T	0.12644622	0.29616	0.110172465	0.26562	0.12644622	0.29616	0.110172465	0.26562	-4.217	0.26997	T	.	.	0.087	0.11366	B	.	.	1.800224	0.22880	15.80	0.98780257916961156	0.46112	0.13701	0.18004	N	AEFBI	.	.	.	-0.151124594507882	0.35188	2.017916	-0.31412728177877	0.27642	1.535277	0.0220543555600699	0.13400	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.35	4.35	0.51454	3.599000	0.53795	-1.385000	0.05564	0.593000	0.32247	0.301000	0.25333	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	12.420	0.54851	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	0.02381	1053.98	200	chr14	104946452	.	G	A	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.584;DP=5367;ExcessHet=0.0000;FS=7.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.83;MQRankSum=-2.451e+01;QD=1.29;ReadPosRankSum=4.07;SOR=1.478	GT:AD:DP:GQ:PL	0/1:701,115:816:99:1068,0,18231	20	0	1	0
chr14	104946699	104946699	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8452A:p.V2818I	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.002	B	0.001	B	.	.	0.554	N	0.26	N	5.64	T	-0.910	T	0.002	T	0.047	-2.450	0.003	-8.14	-2.517	-0.865	10.987	0.047	.	.	.	0.0011	0.0115	0.0005	0.0001	0	0.0003	0.0034	0.0001	0.0009638	149	154602	rs77077255	0.0007	0.0014	0.0008	0.0006	0.0192	0.0007	0.0007	0.0180	0.0175	0.0192	0.0017	0	5.038e-05	3.755e-05	0.0065	0.0002	0.0022	0.0002	0.0070	0.0099	0.0071	0.0070	0.0238	0.0067	0.0065	0.0225	0.0220	0.0238	0	0.0040	0	0.0002	0	0.0035	0.0004	0.0063	0.0002	0.991	0.01963	T	0.35	0.17478	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.553685	0.32154	D	0.28	0.10031	N	5.64	0.00792	T	-0.13	0.08971	N	0.031	0.00770	-0.9103	0.46818	T	0.002	0.00556	T	9	0.004203528	0.00084	T	.	.	.	0.047	0.12962	.	.	0.0297737177859	0.01360	0.0032186901140745672	0.00300	.	.	0.21840646863	0.01220	T	0.016931	0.13903	T	-0.769871	0.00013	T	-0.867612	0.00765	T	0.00713906243663887	0.00082	T	0.454655	0.12977	T	0.009693638	0.00003	0.024030784	0.00418	0.009693638	0.00003	0.024030784	0.00418	-3.83	0.21253	T	.	.	0.076	0.05890	B	.	.	-2.208655	0.00063	0.001	0.26236235750595632	0.01247	0.00182	0.01064	N	AEFBI	.	.	.	-2.52806377115111	0.00013	0.0005917503	-2.57846970665042	0.00015	0.0006741267	0.881589472832716	0.25635	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.12	-8.14	0.00941	-5.503000	0.00140	-20.000000	0.00162	-1.817000	0.00605	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5193:0.3216:0.1591	10.987	0.46743	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1669.98	200	chr14	104946699	.	C	T	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.48;DP=4872;ExcessHet=0.0000;FS=2.385;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.26;MQRankSum=-8.937e+00;QD=4.91;ReadPosRankSum=0.814;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,64:340:99:0|1:104946699_C_T:1684,0,10803:104946699	20	0	1	0
chr14	104946719	104946719	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T8432A:p.L2811H	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.999	D	0.958	D	.	.	1.000	N	2.94	M	5.78	T	-0.994	T	0.008	T	0.438	1.765	11.86	3.35	1.495	2.321	10.363	0.159	0.0147631915052	.	.	0.0008	0.0089	0.0003	0.0002	0	0.0001	0.0033	0	7.68e-05	2	26028	rs186180942	0.0003	0.0013	0.0004	0.0003	0.0095	0.0003	0.0003	0.0086	0.0082	0.0095	0.0008	0	5.038e-05	1.878e-05	0.0019	5.129e-05	0.0011	5.802e-05	0.0050	0.0097	0.0048	0.0051	0.0171	0.0047	0.0045	0.0160	0.0156	0.0171	0	0.0024	0	0.0004	0	0	0.0002	0.0045	0	0.003	0.68238	D	0.19	0.28482	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	0.999685	0.48270	D	2.485	0.72352	M	5.78	0.00681	T	-3.55	0.68764	D	0.245	0.27673	-0.9939	0.31591	T	0.008	0.02968	T	9	0.006383121	0.00144	T	0.014763	0.35085	T	0.159	0.41286	.	.	0.32471235697	0.32085	0.013680517453780896	0.01326	.	.	0.218328133225	0.01215	T	0.133538	0.46427	T	-0.45081	0.01117	T	-0.415909	0.31544	T	0.0326952073897894	0.02420	T	0.378962	0.09121	T	0.23888221	0.46771	0.31594685	0.57578	0.23888221	0.46771	0.31594685	0.57577	-8.565	0.64858	D	.	.	0.301	0.53064	B	.	.	2.339662	0.29980	18.30	0.97582221804388269	0.34742	0.46845	0.27850	N	AEFBI	.	.	.	-0.0452927092613449	0.39813	2.353983	-0.298585359891084	0.28145	1.566963	0.0134823131675957	0.12471	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.35	3.35	0.37468	1.250000	0.32453	2.716000	0.34274	0.658000	0.54486	0.000000	0.06391	0.005000	0.19230	0.131000	0.19607	1.0:0.0:0.0:0.0	10.363	0.43186	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	0.02381	1099.98	200	chr14	104946719	.	A	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=5421;ExcessHet=0.0000;FS=9.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.19;MQRankSum=-1.044e+01;QD=3.43;ReadPosRankSum=-4.000e-03;SOR=1.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:274,47:321:99:0|1:104946699_C_T:1114,0,11223:104946699	20	0	1	0
chr14	104946756	104946756	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8395T:p.V2799L	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.518	P	0.226	B	.	.	1.000	N	1.79	L	5.66	T	-0.918	T	0.005	T	0.347	0.652	7.498	3.24	0.739	-0.815	9.926	0.068	0.0422251847671	.	.	3.322e-05	0.0002	0	0	0	1.504e-05	0	6.056e-05	2.59e-05	4	154602	rs751143580	1.237e-05	0.0004	9.573e-06	1.52e-05	0.0003	7.73e-06	6.38e-06	0.0001	0.0001	0.0003	0	0	0	1.883e-05	0	4.509e-06	1.667e-05	2.337e-05	0.0007	0.0054	0.0007	0.0007	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	6.876e-05	0	0.0009	0	0	4.612e-05	0.0005	0.0004	0.225	0.18626	T	0.313	0.19539	T	0.518	0.37483	P	0.226	0.38054	B	.	.	.	.	1	0.81001	D	1.455	0.36767	L	5.66	0.00776	T	-1.56	0.37759	N	0.136	0.13341	-0.9185	0.45756	T	0.005	0.01542	T	9	0.07035619	0.10222	T	0.042225	0.60351	D	0.068	0.19811	0.304	0.27325	0.0297737177859	0.01360	0.0056020843617427115	0.00530	.	.	0.281263887882	0.07669	T	0.021765	0.16896	T	-0.333482	0.05853	T	-0.53341	0.18948	T	0.0930000320076942	0.11569	T	0.562644	0.19782	T	0.04113719	0.06004	0.07096947	0.15143	0.04113719	0.06004	0.07096947	0.15142	-0.904	0.00899	T	.	.	0.122	0.25429	B	.	.	-0.024960	0.04112	0.973	0.92378643886379475	0.21786	0.05028	0.10811	N	AEFBI	.	.	.	-0.501978836871157	0.22015	1.172622	-0.55322393972836	0.20721	1.117648	4.22206282028075E-4	0.06935	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.14	3.24	0.36257	-0.111000	0.10778	-20.000000	0.00162	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.9008:0.0:0.0992	9.926	0.40663	982	0.03397	.	.	.	.	.	.	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	0.02381	81.98	200	chr14	104946756	.	C	A	81.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e+00;DP=5314;ExcessHet=0.0000;FS=18.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.65;MQRankSum=-5.695e+00;QD=0.29;ReadPosRankSum=-3.296e+00;SOR=2.232	GT:AD:DP:GQ:PL	0/1:253,26:279:96:96,0,7737	20	0	1	0
chr14	104949932	104949932	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5219G:p.K1740R	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.145	B	0.099	B	.	.	0.876	N	2.42	M	4.62	T	-0.951	T	0.005	T	0.089	2.672	14.89	3.49	0.652	1.982	10.028	0.074	.	0.0058	0.00958466	0.0027	0.0210	0.0021	0.0003	0.0002	0.0006	0.0011	0.0029	0.0024838	384	154602	rs2582510	0.0012	0.0015	0.0013	0.0012	0.0227	0.0012	0.0012	0.0214	0.0209	0.0227	0.0026	0.0003	0.0003	0.0003	0.0059	0.0004	0.0031	0.0029	0.0070	0.0083	0.0070	0.0071	0.0231	0.0067	0.0065	0.0218	0.0213	0.0231	0	0.0035	0	0.0006	0.0002	0.0140	0.0006	0.0066	0.0048	0.066	0.36113	T	0.397	0.15157	T	0.145	0.27759	B	0.099	0.30579	B	.	.	.	.	0.876057	0.35656	D	1.415	0.35607	L	4.62	0.01834	T	-0.93	0.24898	N	0.155	0.16028	-0.9513	0.40747	T	0.005	0.01688	T	9	0.005302429	0.00116	T	.	.	.	0.074	0.21613	.	.	0.0297737177859	0.01360	0.0032825050877775376	0.00306	.	.	0.259737849236	0.04860	T	0.020974	0.16414	T	-0.650377	0.00072	T	-0.690078	0.06384	T	0.00762613712151527	0.00089	T	0.614838	0.23473	T	0.044072565	0.06981	0.04836154	0.07165	0.044072565	0.06980	0.04836154	0.07165	-7.415	0.57010	T	.	.	0.115	0.22861	B	.	.	0.858559	0.12310	8.850	0.99549741325883934	0.71086	0.36930	0.25646	N	AEFBI	.	.	.	-0.76463256973233	0.14239	0.7076688	-0.803957282187929	0.14400	0.7521947	4.75628797503205E-4	0.07095	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.65	3.49	0.39065	0.968000	0.28955	-4.566000	0.02092	-0.987000	0.01865	0.137000	0.23458	0.000000	0.08366	0.000000	0.00833	0.0:0.0819:0.0:0.9181	10.028	0.41258	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4073.98	299	chr14	104949932	.	T	C	4073.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=6606;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.85;MQRankSum=-4.161e+00;QD=8.76;ReadPosRankSum=-1.573e+00;SOR=0.740	GT:AD:DP:GQ:PL	0/1:294,171:465:99:4088,0,8125	20	0	1	0
chr15	20535676	20535676	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C758T:p.A253V,	.	.	903	606	10	3	0	16	0.0130293	.	.	2331833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.185	B	0.072	B	.	.	1.000	N	1.04	L	3.21	T	-0.969	T	0.013	T	0.055	-1.350	0.029	.	-1.573	-0.329	.	0.057	0.00135336302404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302792346	0.0073	0.0097	0.0064	0.0081	0.0242	0.0071	0.0070	0.0230	0.0226	0.0017	0.0031	0.0423	0.0021	6.566e-05	0.0099	0.0050	0.0081	0.0242	0.0052	0.0045	0.0051	0.0054	0.0223	0.0049	0.0047	0.0178	0.0162	0.0012	0.0260	0.0062	0.0504	0.0027	0	0.0055	0.0043	0.0071	0.0223	.	.	.	0.165	0.30926	T	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	.	.	.	0.025	0.00485	-0.9685	0.37510	T	0.013	0.05129	T	7	0.06213656	0.07898	T	0.001353	0.01936	T	.	.	.	.	0.0297737177859	0.01360	0.002610010390796344	0.00242	.	.	0.495142906904	0.38151	T	0.012942	0.11287	T	-0.388247	0.02761	T	-0.795466	0.02018	T	0.00822341605707464	0.00098	T	0.440756	0.12177	T	0.034567785	0.03903	0.09967183	0.23806	0.034567785	0.03903	0.09967183	0.23806	-4.904	0.35780	T	.	.	0.142	0.31253	B	.	.	-0.558998	0.01687	0.122	0.39597292329315309	0.02742	0.00189	0.01098	N	AEFI	0.017556	0.00468	N	-1.55047642574625	0.01532	0.06689154	-1.68353583424012	0.01212	0.05457186	5.21244997230675E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-5.508000	0.00140	-0.222000	0.10754	-3.581000	0.00074	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	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	1	0	0	0	0.04762	382.71	2	chr15	20535676	.	G	A	382.71	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.030;DP=193;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0922;MLEAC=2;MLEAF=0.048;MQ=28.39;MQRankSum=-7.840e-01;QD=5.10;ReadPosRankSum=0.985;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,10:51:99:133,0,1021	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	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	.	.	.	.	.	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	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	0/1:441,47:488:41:41,0,12398	1	16	3	1
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,3:4:27:1|0:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:131,112,147,0,42,27:22768260	3	3	2	10
chr15	22768297	22768297	A	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	115.02	2	chr15	22768297	.	A	C,*	115.02	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=0.00;DP=69;ExcessHet=0.0840;FS=0.000;InbreedingCoeff=0.1846;MLEAC=2,5;MLEAF=0.067,0.167;MQ=52.92;MQRankSum=-5.240e-01;QD=6.77;ReadPosRankSum=-1.282e+00;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,3:4:27:1|0:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:131,112,147,0,42,27:22768260	11	0	1	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	314.45	2	chr15	22768302	.	T	G,TCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCG,*	314.45	.	AC=1,3,4;AF=0.029,0.088,0.118;AN=34;BaseQRankSum=0.967;DP=71;ExcessHet=0.0602;FS=1.808;InbreedingCoeff=0.2297;MLEAC=1,3,4;MLEAF=0.029,0.088,0.118;MQ=50.65;MQRankSum=-5.240e-01;QD=12.58;ReadPosRankSum=-1.282e+00;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:1,0,0,3:4:27:1|0:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:131,112,147,112,147,147,0,42,42,27:22768260	11	0	1	4
chr15	22768324	22768365	CATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	-	exonic	GOLGA6L7	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0055	0.0042	0.0037	0.0050	0.0036	0.0035	0.0044	0.0042	0.0027	0.0068	0.0035	0.0046	0.0007	0.0052	0	0.0050	0.0027	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	123.41	1	chr15	22768323	.	CCATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	C	123.41	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.431;DP=69;ExcessHet=0.1190;FS=4.771;InbreedingCoeff=-0.1169;MLEAC=2;MLEAF=0.053;MQ=54.96;MQRankSum=0.674;QD=30.85;ReadPosRankSum=-9.670e-01;SOR=2.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,0:1:72:.:.:72,0,114	17	0	2	2
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,95,71:166:99:.:.:6298,2494,2863,3886,0,3661	0	0	2	0
chr15	25862994	25862994	G	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon1:c.C103G:p.P35A,	.	.	413	1070	38	1	0	40	0.0183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.002	B	0.801	N	1.000	N	2.22	M	3.0	T	-0.997	T	0.037	T	0.186	1.716	11.70	3.13	1.572	-0.667	10.385	0.099	.	.	0.00738818	0.0166	0.0042	0.015	0	0	0.0153	0	0.0355	0.0025226	390	154602	rs201984250	0.0102	0.0095	0.0099	0.0106	0.0265	0.0101	0.0100	0.0254	0.0250	0.0017	0.0037	0.0095	3.449e-05	0.0043	0.0099	0.0102	0.0090	0.0265	0.0077	0.0077	0.0076	0.0079	0.0301	0.0074	0.0072	0.0261	0.0246	0.0024	0.0143	0.0061	0.0069	0	0.0040	0.0069	0.0109	0.0052	0.0301	0.4	0.10482	T	0.306	0.26714	T	0.002	0.09854	B	0.002	0.06944	B	0.800728	0.06767	N	1.128570	0.999925	0.19486	N	0.55	0.14455	N	3.0	0.09167	T	-0.6	0.17834	N	0.222	0.24883	-0.9966	0.30865	T	0.037	0.16073	T	10	0.004319489	0.00087	T	.	.	.	0.099	0.28413	.	.	0.425592409813	0.42174	0.26603274096494134	0.26516	0.836547363532	0.67840	0.861666023731	0.91357	D	0.026818	0.19766	T	-0.601268	0.00143	T	-0.622177	0.11015	T	0.00638069958827155	0.00071	T	0.692631	0.30204	T	0.08781295	0.20463	0.11398819	0.27513	0.08781295	0.20463	0.11398819	0.27512	-3.461	0.18876	T	.	.	0.058	0.00670	B	.;.	.;.	2.590312	0.33598	19.39	0.96415717537927481	0.29740	0.72840	0.35640	D	AEFDBCI	0.122009	0.23696	N	-0.265191423867348	0.30502	1.701342	-0.209321729804864	0.31199	1.763522	0.999980345760994	0.51787	0.59774	0.34471	0	0.475579	0.06741	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.13	3.13	0.35090	3.120000	0.50123	3.893000	0.40305	0.566000	0.28629	0.748000	0.29111	1.000000	0.68203	0.981000	0.58702	0.0:0.221:0.779:0.0	10.385	0.43315	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	0.07143	3415.66	33	chr15	25862994	.	G	C	3415.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.207e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.92;ReadPosRankSum=-2.150e+00;SOR=0.618	GT:AD:DP:GQ:PL	0/1:24,65:89:99:1675,0,581	19	1	1	0
chr15	28350883	28350883	G	T	exonic	LOC100132202;LOC645202	.	nonsynonymous SNV	LOC100132202:NM_001365373:exon9:c.C1855A:p.Q619K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	.	.	.	.	.	.	.	.	.	.	.	.	-0.909	T	0.110	T	.	-0.520	1.628	.	0.149	0.069	.	0.114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	68.62	21	chr15	28350883	.	G	T	68.62	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.383e+00;DP=155;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2278;MLEAC=1;MLEAF=0.031;MQ=27.00;MQRankSum=0.00;QD=17.15;ReadPosRankSum=-1.383e+00;SOR=0.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:4:0|1:28350883_G_T:80,0,4:28350883	15	0	1	5
chr15	30608747	30608747	G	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00498358048796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0019	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0006	2.753e-05	0.0002	0.0001	0	0.0005	0.0009	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	0.993723	0.23659	N	2.48	0.72069	M	1.9	0.23486	T	-1.96	0.45404	N	0.121	0.11197	.	.	.	.	.	.	.	0.13650501	0.25972	T	0.004984	0.12566	T	.	.	.	.	0.207176502487	0.20327	0.05885526678583752	0.05826	0.0158059045702	0.01510	.	.	.	0.009285	0.08464	T	-0.296489	0.08995	T	-0.663663	0.08021	T	.	.	.	0.60444	0.22695	T	0.12715618	0.29764	0.0855234	0.19753	0.12715618	0.29764	0.0855234	0.19752	-4.597	0.32134	T	.	.	0.218	0.44758	B	.	.	0.790856	0.11611	8.201	0.9625796049736377	0.29205	0.07789	0.13786	N	AEFI	0.085690	0.17372	N	.	.	.	.	.	.	2.14335074800116E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.042000	0.12016	0.273000	0.16680	0.000000	0.17513	0.681000	0.28448	0.051000	0.21832	0.010000	0.09038	6.0E-4:0.0:0.9994:0.0	5.935	0.18398	976	0.04745	.	.	.	.	.	.	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	0.03125	51.44	68	chr15	30608747	.	G	C	51.44	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.619e+00;DP=1505;ExcessHet=0.0000;FS=169.147;InbreedingCoeff=-0.1078;MLEAC=1;MLEAF=0.031;MQ=47.00;MQRankSum=-9.880e-01;QD=0.38;ReadPosRankSum=2.10;SOR=8.497	GT:AD:DP:GQ:PL	0/1:110,25:146:63:63,0,2220	15	0	1	5
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/1:0,99,0:99:99:3915,298,0,3915,298,3915	0	10	0	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,8:82:54:0|1:33066576_A_G:54,0,3007:33066576	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	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	0.375	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,8:82:89:0|1:33066576_A_G:89,0,2610:33066576	3	0	9	9
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.984	D	0.001	D	.	.	.	.	0.21	T	-0.301	T	0.421	T	0.739	4.442	23.7	5.96	2.832	6.805	20.422	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,8,0:81:57:0|1:33066576_A_G:57,0,3006,277,3030,3307:33066576	10	0	1	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.993	D	0.001	D	.	.	.	.	0.2	T	-0.397	T	0.409	T	0.427	3.909	19.88	5.96	2.832	6.805	20.422	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1154	559.28	59	chr15	33066579	.	C	T,G	559.28	.	AC=1,2;AF=0.038,0.077;AN=26;BaseQRankSum=-2.851e+00;DP=1869;ExcessHet=0.3300;FS=100.350;InbreedingCoeff=-0.2083;MLEAC=1,3;MLEAF=0.038,0.115;MQ=60.00;MQRankSum=0.00;QD=1.79;ReadPosRankSum=0.563;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,8,0:81:57:0|1:33066576_A_G:57,0,3006,277,3030,3307:33066576	10	0	1	8
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	.	.	.	.	-0.38	T	0.078	D	0.453	T	0.277	2.615	14.70	4.1	0.875	-0.168	10.418	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	945.24	59	chr15	33066580	.	C	G	945.24	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-2.314e+00;DP=1836;ExcessHet=0.6776;FS=128.085;InbreedingCoeff=-0.2756;MLEAC=6;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.546;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,7:80:42:0|1:33066576_A_G:42,0,2995:33066576	8	0	4	9
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.803	P	0.000	D	1.000	N	.	.	1.03	T	-0.682	T	0.170	T	0.554	2.292	13.62	4.1	0.872	0.096	10.665	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	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	0.1538	573.81	76	chr15	33066583	.	C	G,T	573.81	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-1.984e+00;DP=1824;ExcessHet=0.6776;FS=218.128;InbreedingCoeff=-0.2205;MLEAC=2,3;MLEAF=0.077,0.115;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=0.751;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,7:80:42:0|1:33066576_A_G:42,261,3277,0,3016,2995:33066576	9	0	2	8
chr15	33788355	33788355	G	T	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon67:c.G9727T:p.D3243Y	.	.	0	1519	2	1	0	4	0.00131492	.	.	936884	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.845	L	-0.15	T	-0.177	T	0.402	T	0.941	3.308	17.12	4.55	2.517	9.601	17.854	0.538	0.0559516351922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294722820	1.231e-05	1.231e-05	1.634e-05	8.252e-06	0.0009	7.7e-06	6.35e-06	0.0003	0.0002	0	0	0	0	0	0.0009	4.497e-06	0.0001	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.546e-05	5.24e-06	2.45e-06	.	.	2.415e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.99	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-0.15	0.65192	T	-7.57	0.95246	D	0.913	0.91505	-0.1767	0.78263	T	0.402	0.75331	T	10	0.8370371	0.82859	D	0.055952	0.66426	D	0.538	0.80664	0.427	0.47350	0.859772695071	0.85841	0.5704975196576697	0.56977	0.803577787223	0.66362	0.664768397808	0.62091	T	0.789219	0.94508	D	0.343305	0.86057	D	0.255358	0.85874	D	0.998374462127686	0.93972	D	0.975102	0.91204	D	0.8858007	0.90150	0.82154906	0.89638	0.8858007	0.90151	0.82154906	0.89639	-13.67	0.91935	D	.	.	0.523	0.65634	A	.;.;.;.;.	.;.;.;.;.	4.249334	0.64489	24.7	0.98881035457803756	0.47823	0.99132	0.91696	D	AEFBI	0.923645	0.90045	D	0.698921662618033	0.79559	7.103835	0.625893201371051	0.76824	6.563124	0.999999995457293	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.55	4.55	0.55429	10.003000	0.99689	9.758000	0.81499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0:0.0:1.0:0.0	17.854	0.88668	930	0.16408	.;.;.;.;.	.	.	.	.	.	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	0.02381	1993.98	37	chr15	33788355	.	G	T	1993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.224e+00;DP=893;ExcessHet=0.0000;FS=7.655;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-9.250e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:90,84:174:99:2008,0,2227	20	0	1	0
chr15	34038924	34038924	-	CCGCCGCCGCCT	exonic	AVEN	.	nonframeshift insertion	AVEN:NM_020371:exon1:c.122_123insAGGCGGCGGCGG:p.G45_D46insGGGG,	.	.	593	759	112	48	10	218	0.12051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	756.33	5	chr15	34038912	.	CCCGCCGCCGCCT	C,CCCGCCGCCGCCTCCGCCGCCGCCT	756.33	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.319;DP=163;ExcessHet=0.0454;FS=2.917;InbreedingCoeff=0.2461;MLEAC=4,1;MLEAF=0.100,0.025;MQ=60.00;MQRankSum=0.00;QD=21.61;ReadPosRankSum=-4.240e-01;SOR=1.230	GT:AD:DP:GQ:PL	1/1:0,7,0:7:21:315,21,0,315,21,315	16	1	2	1
chr15	34382015	34382015	G	C	exonic	GOLGA8A	.	nonsynonymous SNV	GOLGA8A:NM_181077:exon14:c.C1406G:p.P469R	.	.	220	5	0	1	0	2	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.971	D	0.636	P	.	.	0.995	N	0.67	N	3.53	T	-0.564	T	0.423	T	0.106	-0.899	0.441	0.496	0.528	2.061	3.534	0.062	0.00526627203441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457109260	0.0080	0.0048	0.0056	0.0102	0.0370	0.0078	0.0077	0.0354	0.0348	0.0004	0.0062	0.0042	0.0002	0.0003	0.0300	0.0047	0.0062	0.0370	0.0079	0.0027	0.0078	0.0079	0.0625	0.0061	0.0055	0.0423	0.0357	0.0022	0	0.0012	0.0079	0	0	0	0.0099	0	0.0625	0.165	0.23271	T	0.351	0.22895	T	0.971	0.57185	D	0.636	0.51948	P	.	.	.	.	0.995459	0.23286	N	2.485	0.72352	M	3.53	0.04852	T	-2.12	0.48184	N	0.148	0.15046	-0.5643	0.66239	T	0.423	0.76750	T	9	0.014103413	0.00297	T	0.005266	0.13433	T	0.062	0.17934	0.179	0.08626	0.043077524339	0.03247	0.145586260892303	0.14481	.	.	0.574752986431	0.49347	T	0.006938	0.06364	T	-0.620708	0.00109	T	-0.646795	0.09180	T	0.0253007171620949	0.01313	T	0.508249	0.16331	T	0.03884983	0.05253	0.063314915	0.12524	0.03884983	0.05253	0.063314915	0.12523	-4.156	0.26112	T	.	.	0.075	0.06990	B	.;.	.;.	0.065624	0.04751	1.377	0.55054122882908985	0.05263	0.23568	0.22118	N	AEFGI	0.181942	0.30926	N	-0.692743474100034	0.16227	0.8248883	-0.819872761636745	0.14015	0.7300778	2.77314323413756E-4	0.06300	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	0.496	0.496	0.16103	2.317000	0.43429	0.433000	0.18345	-1.102000	0.01507	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.0:1.0E-4:0.5563:0.4436	3.534	0.07342	677	0.60274	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	90.88	5	chr15	34382015	.	G	C	90.88	.	AC=2;AF=0.250;AN=8;DP=5;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.500;MQ=27.00;QD=31.52;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:34382015_G_C:90,6,0:34382015	3	1	0	17
chr15	38454169	38454169	G	A	exonic	FAM98B	.	nonsynonymous SNV	FAM98B:NM_173611:exon1:c.G8A:p.G3E,	.	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.197	B	0.021	B	0.034	N	0.949	N	0	N	1.0	T	-1.066	T	0.048	T	0.225	2.925	15.75	3.93	1.271	2.363	7.385	0.026	0.0108022671287	0.0009	0.000399361	0.0016	0	0.0027	0	0	0.0025	0.0028	0.0002	0.0008279	128	154602	rs149112827	0.0008	0.0008	0.0008	0.0009	0.0084	0.0008	0.0008	0.0065	0.0058	2.992e-05	0.0009	0.0091	0	0.0001	0.0084	0.0007	0.0019	0.0006	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0007	0.0019	0.0016	0.0001	0	0.0025	0.0084	0	0	0.0136	0.0009	0	0.0006	0.093	0.31532	T	1.0	0.14200	T	0.049	0.22227	B	0.018	0.18489	B	0.033586	0.24878	N	0.393266	0.948912	0.26554	N	0.49	0.13296	N	1.0	0.42122	T	-0.44	0.14588	N	0.441	0.47949	-1.0661	0.10293	T	0.048	0.20474	T	10	0.008593231	0.00195	T	0.010802	0.27747	T	0.026	0.05648	.	.	0.558188439259	0.55478	0.1798066480660386	0.17899	0.156088582231	0.17621	0.714350163937	0.69223	T	0.010325	0.09336	T	-0.517764	0.00453	T	-0.522676	0.20025	T	0.0298090857252997	0.01960	T	0.687331	0.30052	T	0.061819904	0.12843	0.10834209	0.26098	0.061819904	0.12843	0.10834209	0.26097	-2.213	0.04103	T	.	.	0.086	0.17785	B	.;.	.;.	3.331766	0.45867	22.2	0.98962679551820532	0.49364	0.51247	0.28851	D	ALL	0.162775	0.28898	N	-0.260211999041283	0.30698	1.71412	-0.0759088773472968	0.36388	2.117056	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	4.85	3.93	0.44666	1.970000	0.40144	9.746000	0.81453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.191:0.0:0.809:0.0	7.385	0.26051	892	0.26670	.;.	.	.	.	.	.	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	0.04762	1173.08	34	chr15	38454169	.	G	A	1173.08	.	AC=2;AF=0.048;AN=42;DP=710;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.52;SOR=2.368	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1201,105,0	20	1	0	0
chr15	42339751	42339751	C	-	exonic	GANC	.	frameshift deletion	GANC:NM_198141:exon17:c.1926delC:p.R643Vfs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs569010658	7.525e-06	7.524e-06	4.084e-06	1.1e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	0	0.0001	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3678.05	38	chr15	42339750	.	TC	T	3678.05	.	AC=2;AF=0.048;AN=42;DP=1648;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=25.07;SOR=0.842	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3706,298,0	20	1	0	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,394,0:394:99:.:.:11462,1114,0,11462,1114,11462	9	2	9	0
chr15	43361917	43361917	T	G	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon5:c.A1715C:p.E572A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.451	B	0.079	B	0.003	N	0.839	N	2.255	M	3.1	T	-1.084	T	0.027	T	0.335	1.519	11.03	4.87	2.040	1.926	12.485	0.063	0.00800821371926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.372e-06	1.368e-06	1.364e-06	1.38e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.03	0.54159	D	0.451	0.36091	B	0.079	0.28749	B	0.002757	0.36001	N	0.196476	0.838564	0.28663	N	2.695	0.78878	M	3.07	0.08547	T	-2.63	0.56466	D	0.076	0.31140	-1.0839	0.06609	T	0.027	0.11485	T	10	0.08571759	0.14500	T	0.008008	0.21239	T	0.063	0.18251	0.27	0.21893	0.368183359018	0.36430	0.2889935860856146	0.28812	0.100892439271	0.11402	0.535687804222	0.43837	T	0.117185	0.43709	T	-0.173205	0.24752	T	-0.486573	0.23751	T	0.62062406539917	0.37232	D	0.688631	0.29780	T	0.20628372	0.42799	0.14143176	0.33681	0.20628372	0.42798	0.14143176	0.33680	-5.123	0.38148	T	.	.	0.134	0.37969	B	.;.	.;.	2.919239	0.38750	20.8	0.98162525271893897	0.38789	0.04067	0.09519	N	AEFBHCI	0.083056	0.16824	N	0.0356782328430273	0.43483	2.640449	0.130566748111025	0.46120	2.863271	0.999987861113667	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.87	4.87	0.62877	0.176000	0.16596	6.043000	0.53031	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	12.485	0.55209	15	0.98792	.;.	.	.	.	.	.	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	0.04762	2739.08	35	chr15	43361917	.	T	G	2739.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e-01;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=31.85;ReadPosRankSum=-1.610e-01;SOR=0.553	GT:AD:DP:GQ:PL	1/1:1,85:86:99:2767,217,0	20	1	0	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:73,38:111:77:77,0,1670	4	0	13	4
chr15	63597516	63597516	G	A	exonic	FBXL22	.	nonsynonymous SNV	FBXL22:NM_001367807:exon1:c.G124A:p.V42M	.	.	435	1084	3	0	0	3	0.00138185	.	.	3442491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.04	L	-0.02	T	-0.328	T	0.348	T	0.866	3.983	20.4	5.39	2.526	9.731	19.189	0.526	0.0772033709326	7.7e-05	.	3.301e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs367605652	2.052e-05	2.052e-05	1.634e-05	2.475e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.541e-05	2.987e-05	0.0001	0	5.038e-05	0	0.0005	1.619e-05	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.02	0.62918	T	.	.	.	0.613	0.82559	-0.3281	0.74188	T	0.348	0.71249	T	10	0.56838185	0.65180	D	0.077203	0.72714	D	0.526	0.79947	.	.	0.602107291794	0.59893	0.5983892764624129	0.59769	0.745215368808	0.63480	0.589835584164	0.51470	T	0.164209	0.50958	T	0.108105	0.65154	D	0.14321	0.79751	D	0.624632000923157	0.37396	D	0.854215	0.54045	D	0.33035746	0.55501	0.3368268	0.59480	0.33035746	0.55501	0.3368268	0.59480	-9.151	0.68664	D	.	.	0.867	0.80705	P	.;.;.	.;.;.	4.792489	0.77791	26.8	0.99887189055905468	0.96204	0.96880	0.71442	D	AEFDBCIJ	0.937467	0.93530	D	0.650923674793274	0.76429	6.484809	0.636744391311684	0.77627	6.715922	1.0	0.98316	0.517182	0.21443	0	0.379588	0.06130	0	0.478664	0.07449	1	0.664235	0.64389	0	.	.	5.39	5.39	0.77615	9.864000	0.98442	7.388000	0.58495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	19.189	0.93643	627	0.65350	F-box domain;F-box domain;F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	3462.68	34	chr15	63597516	.	G	A	3462.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.47;DP=921;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.262;SOR=0.712	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1269,0,924	18	0	3	0
chr15	65077762	65077762	A	C	exonic	KBTBD13	.	nonsynonymous SNV	KBTBD13:NM_001101362:exon1:c.A947C:p.D316A,	Nemaline myopathy 6, autosomal dominant, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	643471	Nemaline_myopathy_6|Inborn_genetic_diseases	MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.82	T	0.009	B	0.007	B	.	.	0.999	D	1.445	L	-0.13	T	-0.898	T	0.172	T	0.486	2.176	13.23	5.15	1.937	2.308	14.657	0.240	0.0832456286377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021462149	2.245e-05	2.257e-05	1.671e-05	2.827e-05	0.0007	1.624e-05	1.39e-05	0.0002	0.0001	0.0002	0.0001	0	0	0	0.0007	1.091e-05	5.065e-05	1.201e-05	5.264e-05	5.256e-05	5.145e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	5.287e-05	2.835e-05	2.416e-05	0	0.0002	0	0	0	0	5.886e-05	0	0	0.13	0.26740	T	0.116	0.36497	T	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	0.998746	0.45372	D	1.79	0.46772	L	-0.13	0.64818	T	-3.09	0.63438	D	0.342	0.38335	-0.8979	0.48205	T	0.172	0.51452	T	9	0.20484588	0.36691	T	0.083246	0.74075	D	0.240	0.54500	0.552	0.66856	0.486920840936	0.48326	0.7054532993511943	0.70487	0.688145502748	0.60419	0.79730707407	0.81553	T	0.106374	0.41767	T	-0.195131	0.21509	T	-0.26976	0.47845	T	0.0451927643841116	0.04637	T	0.435056	0.11905	T	0.20360999	0.42443	0.30230767	0.56263	0.20360999	0.42443	0.30230767	0.56262	-3.008	0.10267	T	0.4514104127042629	0.53514	0.243	0.47773	B	.	.	3.304751	0.45380	22.1	0.96789735759385143	0.31105	0.88086	0.47862	D	AEFDBCI	0.506756	0.53734	D	-0.3367308330111	0.27763	1.525826	-0.179421584374864	0.32294	1.83587	0.999999890058061	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.15	5.15	0.70287	2.348000	0.43701	7.676000	0.65050	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	14.657	0.68447	315	0.87208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2119.11	82	chr15	65077762	.	A	C	2119.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.17;DP=2038;ExcessHet=0.1072;FS=40.643;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.63;SOR=2.825	GT:AD:DP:GQ:PL	0/1:63,42:105:99:1108,0,1643	19	0	2	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/1:58,12:70:7:7,0,1531	14	0	7	0
chr15	75650396	75650396	C	T	exonic	SNX33	.	nonsynonymous SNV	SNX33:NM_153271:exon1:c.C1294T:p.P432S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.947	P	0.908	P	0.000	D	1.000	D	1.155	L	1.06	T	-0.997	T	0.171	T	0.488	4.240	22.1	5.48	2.586	5.998	18.337	0.206	0.0121657577853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.387	0.15650	T	0.947	0.53479	P	0.908	0.64494	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	1.06	0.39781	T	0.27	0.04306	N	0.453	0.49055	-0.9966	0.30865	T	0.171	0.51181	T	10	0.44041598	0.58065	T	0.012166	0.30502	T	0.206	0.49396	0.514	0.61307	0.64968156612	0.64677	0.46120647261755116	0.46038	1.29733811053	0.82933	0.630146026611	0.57166	T	0.017922	0.14537	T	-0.0521219	0.44125	T	-0.312646	0.43374	T	0.840633928775787	0.49379	D	0.941406	0.78138	D	0.2664146	0.49712	0.27158108	0.53060	0.2664146	0.49712	0.27158108	0.53059	-5.212	0.39064	T	.	.	0.104	0.18991	B	.	.	4.094995	0.61022	24.3	0.99901348891370745	0.97275	0.96391	0.68909	D	AEFGBI	0.740802	0.68494	D	0.521777388680784	0.68379	5.209095	0.569836601191491	0.72787	5.865331	0.999999999957543	0.74766	0.660085	0.49399	0	0.659912	0.62753	0	0.662677	0.59975	0	0.662433	0.64102	0	.	.	5.48	5.48	0.80675	6.080000	0.70936	7.720000	0.67265	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	18.337	0.90232	178	0.93097	Sorting nexin protein, WASP-binding domain|Sorting nexin-33, BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1703.98	34	chr15	75650396	.	C	T	1703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.36;DP=821;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.335;SOR=0.871	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1718,0,1547	20	0	1	0
chr15	75689603	75689603	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1462A:p.A488T,	.	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.615	P	0.159	B	0.000	D	0.983	D	1.555	L	2.13	T	-1.091	T	0.042	T	0.417	0.690	7.683	5.12	2.375	3.620	13.061	0.174	.	.	0.00599042	0.0243	0.0096	0.0137	0.0200	0.0142	0.0332	0.0183	0.0128	0.0012679	33	26028	rs72732868	0.0008	0.0079	0.0008	0.0008	0.0082	0.0007	0.0007	0.0074	0.0072	0.0002	0.0003	0.0006	0.0082	0.0002	0.0009	0.0006	0.0006	0.0003	0.0007	0.0031	0.0006	0.0009	0.0111	0.0006	0.0006	0.0088	0.0080	0.0001	0	0.0004	0.0003	0.0111	0.0002	0	0.0005	0.0010	0.0008	0.194	0.20835	T	0.012	0.63918	D	0.615	0.39791	P	0.159	0.34693	B	0.000419	0.44736	D	0.093684	0.983141	0.39978	D	1.79	0.46772	L	2.13	0.19588	T	-0.83	0.22727	N	0.179	0.19325	-1.0915	0.05286	T	0.042	0.17910	T	10	0.0058493316	0.00131	T	.	.	.	0.174	0.44019	.	.	.	.	0.42678734187444106	0.42595	0.626776388847	0.56798	0.354917347431	0.18644	T	0.075735	0.35250	T	-0.143714	0.29299	T	-0.444211	0.28337	T	0.013029156001717	0.00227	T	0.729327	0.34443	T	0.08869844	0.20700	0.09523169	0.22578	0.08869844	0.20700	0.09523169	0.22577	-3.743	0.19955	T	.	.	0.206	0.43227	B	.	.	2.280329	0.29155	18.03	0.98388572036927513	0.40936	0.78470	0.38718	D	AEFBI	0.133191	0.25277	N	-0.0988076745998395	0.37445	2.178575	-0.056196607839385	0.37223	2.17657	0.997347920073087	0.35520	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.12	5.12	0.69459	3.093000	0.49912	2.681000	0.34017	0.524000	0.24156	0.985000	0.35982	0.992000	0.31684	0.005000	0.06747	0.1615:0.8385:0.0:0.0	13.061	0.58419	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.119	1383.43	40	chr15	75689603	.	C	T	1383.43	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.220e-01;DP=1187;ExcessHet=1.1607;FS=11.205;InbreedingCoeff=-0.1337;MLEAC=5;MLEAF=0.119;MQ=58.37;MQRankSum=-8.802e+00;QD=2.81;ReadPosRankSum=-2.432e+00;SOR=1.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,11:72:99:0|1:75689603_C_T:278,0,2486:75689603	16	0	5	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.513	P	0.079	B	0.000	D	0.953	N	1.79	L	2.14	T	-1.046	T	0.043	T	0.372	1.107	9.517	4.19	2.375	1.407	9.359	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1667	1598.59	40	chr15	75689635	.	C	T	1598.59	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.980;DP=1516;ExcessHet=2.5830;FS=16.480;InbreedingCoeff=-0.2002;MLEAC=7;MLEAF=0.167;MQ=58.06;MQRankSum=-9.104e+00;QD=2.13;ReadPosRankSum=-1.467e+00;SOR=2.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,16:89:99:0|1:75689631_A_G:432,0,2956:75689631	14	0	7	0
chr15	75727140	75727140	C	T	exonic	ODF3L1	.	nonsynonymous SNV	ODF3L1:NM_175881:exon4:c.C425T:p.T142M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.896	P	0.756	N	1.000	N	2.16	M	1.2	T	-0.898	T	0.208	T	0.288	2.668	14.88	4.57	2.264	3.810	13.224	0.169	0.0307764739162	.	.	1.653e-05	0	0	0	0	3.009e-05	0	0	1.29e-05	2	154602	rs761648132	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0007	1.048e-05	8.75e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.709e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.006	0.70582	D	0.999	0.77913	D	0.896	0.63555	P	0.756021	0.09661	N	0.861926	1	0.08975	N	2.215	0.62545	M	1.2	0.37405	T	-2.94	0.61435	D	0.31	0.34981	-0.8985	0.48145	T	0.208	0.56785	T	10	0.27754745	0.45322	T	0.030776	0.53014	D	0.169	0.43123	0.505	0.59924	0.162503812791	0.15892	0.6538015092117342	0.65316	0.842773914373	0.68145	0.337903916836	0.16124	T	0.277583	0.65020	T	-0.206964	0.19808	T	-0.404615	0.32847	T	0.824868381023407	0.48136	D	0.757724	0.38135	T	0.12826933	0.29993	0.17572282	0.40058	0.12826933	0.29993	0.17572282	0.40057	-8.225	0.62593	D	.	.	0.161	0.35477	B	.	.	3.246244	0.44338	21.9	0.99836612232304744	0.91800	0.29873	0.23936	N	AEFDBI	0.308155	0.41482	N	0.157342986679268	0.49160	3.119544	-0.0311610989902053	0.38315	2.255648	0.999999995176535	0.74766	0.679555	0.55442	0	0.547309	0.14657	0	0.600882	0.32295	2	0.530356	0.10902	0	.	.	4.57	4.57	0.55860	4.101000	0.57501	1.687000	0.28047	0.599000	0.40250	0.091000	0.22601	0.002000	0.18203	0.052000	0.15357	0.0:1.0:0.0:0.0	13.224	0.59331	166	0.93555	.	.	.	.	.	.	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	0.02381	1838.98	34	chr15	75727140	.	C	T	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.904;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.892;SOR=0.642	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1853,0,1629	20	0	1	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:50,57,0:107:99:1556,0,1352,1706,1523,3229	0	11	9	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,27,18:45:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1902,710,654,1087,0,1011:89776889	0	0	0	0
chr15	99363241	99363241	C	T	exonic	LRRC28	.	nonsynonymous SNV	LRRC28:NM_001321677:exon8:c.C800T:p.T267M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.996	D	0.000	D	1.000	D	1.78	L	1.42	T	-0.739	T	0.248	T	0.743	5.009	29.5	5.76	2.718	7.246	18.952	0.201	0.0249721474467	.	.	8.3e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs754326200	1.231e-05	1.3e-05	1.498e-05	9.627e-06	1.169e-05	7.7e-06	6.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	6.624e-05	1.159e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.91255	D	0.018	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.33	0.66821	M	0.96	0.57575	T	-0.79	0.21860	N	0.785	0.78167	-0.7389	0.58509	T	0.248	0.61693	T	10	0.55770427	0.64611	D	0.024972	0.47953	T	0.201	0.48592	0.331	0.31681	0.85048573804	0.84905	0.571152180865021	0.57043	0.500155710642	0.48436	0.709952712059	0.68586	T	0.070732	0.34033	T	0.08874	0.63046	D	-0.00967755	0.69706	D	0.86906909942627	0.51901	D	0.948305	0.80045	D	0.18210045	0.39412	0.17979437	0.40737	0.18210045	0.39412	0.17979437	0.40737	-3.698	0.19289	T	.	.	0.195	0.65846	B	.;.	.;.	5.231331	0.87810	29.4	0.99931309783792388	0.99387	0.97663	0.76248	D	AEFBHCI	0.876546	0.80061	D	0.797723185120224	0.85962	8.735801	0.805963988535561	0.90203	10.30245	0.99999999999671	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.76	5.76	0.90726	7.330000	0.78442	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.952	0.92618	918	0.19598	.;.	.	.	.	.	.	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	0.02381	1200.98	33	chr15	99363241	.	C	T	1200.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=781;ExcessHet=0.0000;FS=8.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.049;SOR=1.507	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1215,0,1070	20	0	1	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:32,34,0,0:66:99:1302,0,1203,1399,1307,2705,1399,1307,2705,2705	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:32,34,0,0:66:99:1302,0,1203,1399,1307,2705,1399,1307,2705,2705	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:32,34,0,0:66:99:1302,0,1203,1399,1307,2705,1399,1307,2705,2705	8	2	8	0
chr16	298021	298021	G	C	exonic	AXIN1	.	nonsynonymous SNV	AXIN1:NM_003502:exon6:c.C1485G:p.D495E	Hepatocellular carcinoma, somatic	.	0	1509	12	1	0	14	0.00461741	.	.	726568	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.77	T	0.101	B	0.09	B	0.000	D	0.626	N	0.11	N	0.21	T	-1.002	T	0.060	T	0.093	0.312	5.690	3.79	1.229	1.208	7.571	0.034	.	0.0056	0.00259585	0.0099	0.0021	0.0033	0	0.0068	0.0149	0.008	0.0064	0.005996	927	154602	rs146947903	0.0079	0.0079	0.0080	0.0077	0.0091	0.0078	0.0077	0.0089	0.0088	0.0015	0.0031	7.722e-05	0	0.0079	0.0059	0.0091	0.0062	0.0048	0.0050	0.0050	0.0052	0.0048	0.0085	0.0047	0.0046	0.0080	0.0077	0.0014	0	0.0029	0	0	0.0057	0.0068	0.0085	0.0028	0.0027	0.379	0.12345	T	0.307	0.20422	T	0.101	0.25775	B	0.09	0.29851	B	0.000066	0.52346	D	0.195282	0.626015	0.30739	N	0.2	0.09183	N	0.2	0.60111	T	-0.78	0.21644	N	0.027	0.01274	-1.0025	0.29197	T	0.060	0.24981	T	10	0.0050819814	0.00110	T	.	.	.	0.034	0.08419	0.393	0.41770	0.367803931526	0.36392	0.23866703767669648	0.23780	0.39378105648	0.40548	0.498790204525	0.38659	T	0.321617	0.69270	T	-0.527729	0.00396	T	-0.521428	0.20149	T	0.00602279739712912	0.00066	T	0.751525	0.38135	T	0.10010132	0.23631	0.056021847	0.09936	0.0985022	0.23233	0.056021847	0.09935	-3.386	0.15232	T	.	.	0.087	0.22061	B	.;.	.;.	1.533152	0.19672	14.38	0.81078998762648069	0.13509	0.64439	0.32408	D	AEFBI	0.174630	0.30177	N	-0.517449353746428	0.21516	1.142406	-0.336869398829417	0.26919	1.490138	0.00146455998578151	0.08559	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.75	3.79	0.42757	1.023000	0.29668	1.466000	0.26718	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.0882:0.0:0.7378:0.174	7.571	0.27076	784	0.47045	Axin beta-catenin binding;Axin beta-catenin binding	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1173.98	34	chr16	298021	.	G	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.404;DP=774;ExcessHet=0.0000;FS=7.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=-4.580e-01;SOR=0.239	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1188,0,1007	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.047	B	0.039	B	0.715	U	1.000	D	0.805	L	1.6	T	-1.119	T	0.047	T	0.315	2.009	12.68	4.03	0.865	3.439	9.831	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	837.98	37	chr16	1625985	.	G	T	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.560e-01;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-3.600e-02;SOR=0.602	GT:AD:DP:GQ:PL	0/1:41,36:77:99:852,0,997	20	0	1	0
chr16	1945845	1945845	G	A	exonic	RPL3L	.	nonsynonymous SNV	RPL3L:NM_005061:exon8:c.C1037T:p.T346M,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.345	M	1.8	T	-0.429	T	0.227	T	0.797	2.549	14.48	4.25	2.339	9.314	15.755	0.486	0.0539384357413	.	0.000399361	0.0001	0	0.0006	0	0	6.036e-05	0	0.0004	0.0001682	26	154602	rs541904197	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	2.987e-05	0.0006	0.0005	0	0	0.0003	9.802e-05	0.0002	0.0005	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	9.621e-05	0	0.0008	0.0009	0	0	0.0034	0.0001	0.0005	0.0008	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.47	0.92451	M	1.8	0.25344	T	-5.08	0.82896	D	0.815	0.81063	-0.4291	0.71096	T	0.227	0.59171	T	10	0.59971607	0.66843	D	0.053938	0.65663	D	0.486	0.77464	.	.	0.809342402421	0.80755	0.5835613839592181	0.58285	0.521112319639	0.49893	0.744799733162	0.73678	T	0.136881	0.46951	T	-0.101657	0.36150	T	-0.02189	0.68904	D	0.632978200912476	0.37742	D	0.980402	0.93314	D	0.75421816	0.81114	0.68406373	0.81426	0.75421816	0.81116	0.68406373	0.81427	-9.933	0.73510	D	.	.	0.200	0.42317	B	.	.	5.020708	0.83434	28.0	0.99808096396634916	0.89264	0.99485	0.96606	D	AEFBI	0.957652	0.97697	D	0.767440709023184	0.84033	8.176746	0.6137785436798	0.75941	6.400245	0.999997674024224	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.25	4.25	0.49658	9.719000	0.97996	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	15.755	0.77786	679	0.60090	.	.	.	.	.	.	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	0.02381	2129.98	42	chr16	1945845	.	G	A	2129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=919;ExcessHet=0.0000;FS=7.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.239;SOR=0.518	GT:AD:DP:GQ:PL	0/1:86,86:172:99:2144,0,1934	20	0	1	0
chr16	2102139	2102139	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon26:c.C9319T:p.R3107C	Polycystic kidney disease, adult type I, Autosomal dominant	.	83	1438	1	0	0	1	0.000347584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.939	D	0.023	N	0.999	N	1.445	L	1.25	T	-1.048	T	0.133	T	0.538	0.760	8.024	3.48	2.323	2.695	7.405	0.171	0.169370228376	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3874654	5.575e-05	5.964e-05	3.653e-05	7.513e-05	0.0006	4.549e-05	4.211e-05	0.0005	0.0004	0	2.279e-05	0	7.565e-05	0	0	1.664e-05	5.105e-05	0.0006	3.308e-05	3.285e-05	2.587e-05	4.063e-05	0.0004	1.267e-05	8.03e-06	6.813e-05	2.852e-05	2.459e-05	0	0	0	0.0004	0	0	1.472e-05	0	0.0002	0.099	0.30656	T	0.1	0.38742	T	0.525	0.90584	P	0.039	0.67449	B	0.023089	0.26508	N	0.396105	0.999214	0.21497	N	2.36	0.67893	M	1.25	0.36512	T	-1.74	0.43906	N	0.326	0.36674	-1.0479	0.14988	T	0.133	0.44661	T	10	0.36193538	0.52801	T	0.16937	0.84721	D	0.171	0.43483	0.583	0.70990	0.852710729254	0.85129	0.7155610733948489	0.71499	.	.	0.33213275671	0.15256	T	0.313282	0.68504	T	-0.13986	0.29914	T	-0.335732	0.40826	T	0.385375320911407	0.28389	T	0.783822	0.42110	T	0.07889904	0.17994	0.052509006	0.08664	0.07889904	0.17994	0.052509006	0.08664	-9.923	0.73449	D	0.15624600078300632	0.18785	0.108	0.20313	B	.;.	.;.	3.148810	0.42619	21.6	0.94482303296211978	0.24940	0.51112	0.28820	D	AEFBI	0.362326	0.45162	N	-0.0688766556356983	0.38762	2.275371	-0.151763259108064	0.33341	1.906158	0.00154748438822742	0.08631	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.51	3.48	0.38946	2.862000	0.48087	3.236000	0.36937	0.660000	0.55035	0.776000	0.29426	1.000000	0.68203	0.008000	0.08271	0.0:0.3369:0.5084:0.1547	7.405	0.26160	721	0.55360	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	920.98	38	chr16	2102139	.	G	A	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.096;DP=832;ExcessHet=0.0000;FS=13.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=32.13;MQRankSum=2.06;QD=20.47;ReadPosRankSum=0.581;SOR=1.202	GT:AD:DP:GQ:PL	0/1:11,34:45:99:935,0,181	20	0	1	0
chr16	2109076	2109076	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G6091A:p.V2031M	Polycystic kidney disease, adult type I, Autosomal dominant	YES	2	1519	1	0	0	1	0.000329056	.	.	985008	Inborn_genetic_diseases|Polycystic_kidney_disease	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.854	P	0.298	B	0.000	D	0.967	N	1.61	L	0.15	T	-0.809	T	0.164	T	0.401	0.896	8.640	5.49	2.597	2.787	12.759	0.129	0.449234191373	.	.	0.0003	0	0	0	0	0	0	0.0020	0.0002135	33	154602	rs765389584	0.0002	0.0002	0.0001	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	1.947e-05	0	1.988e-05	0.0002	0.0024	9.844e-05	9.841e-05	7.706e-05	0.0001	0.0019	6e-05	4.874e-05	0.0010	0.0007	7.214e-05	0	0	0	0	0	0	4.41e-05	0	0.0019	0.287	0.15149	T	0.051	0.47828	T	0.8	0.47077	P	0.298	0.40966	B	0.000226	0.47286	D	0.180303	0.967052	0.25866	N	1.87	0.49600	L	0.15	0.60734	T	-0.28	0.12847	N	0.34	0.39659	-0.8088	0.54623	T	0.164	0.50176	T	10	0.045740277	0.03679	T	0.449234	0.94311	D	0.129	0.35316	0.404	0.43573	0.730922541288	0.72852	0.4800694021578054	0.47926	.	.	0.570616364479	0.48765	T	0.294549	0.66723	T	-0.368727	0.03659	T	-0.308903	0.43776	T	0.0937675096689802	0.11658	T	0.785321	0.42297	T	0.07567366	0.17063	0.06964094	0.14697	0.07567366	0.17063	0.06964094	0.14697	-4.815	0.34823	T	0.20708162621437848	0.27669	0.217	0.44682	B	.;.	.;.	2.617724	0.34010	19.51	0.91222354384019599	0.20479	0.95200	0.63808	D	AEFBI	0.500469	0.53372	D	0.265082471426005	0.54389	3.604568	0.321501633444002	0.56804	3.844483	0.708108518102568	0.22785	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.49	5.49	0.81022	2.941000	0.48703	3.995000	0.41022	0.584000	0.30380	0.986000	0.36153	0.999000	0.35428	0.295000	0.24381	0.0:0.9248:0.0:0.0752	12.759	0.56730	654	0.62520	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2052.98	33	chr16	2109076	.	C	T	2052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=913;ExcessHet=0.0000;FS=3.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=0.00;QD=14.06;ReadPosRankSum=1.36;SOR=0.763	GT:AD:DP:GQ:PL	0/1:65,81:146:99:2067,0,1423	20	0	1	0
chr16	2799467	2799467	A	G	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon3:c.A478G:p.N160D,	.	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.000798722	0.0026	0.0004	0	0	0	0.0050	0.0041	0.0013	0.0006274	97	154602	rs192768989	0.0011	0.0010	0.0011	0.0011	0.0049	0.0010	0.0010	0.0035	0.0030	0.0001	0.0009	0.0188	0	0.0001	0.0049	0.0007	0.0021	0.0013	0.0011	0.0011	0.0011	0.0012	0.0016	0.0010	0.0009	0.0011	0.0010	0.0002	0	0.0016	0.0182	0	0.0003	0	0.0010	0.0009	0.0010	.	.	.	.	.	.	0.943	0.53072	P	0.739	0.55653	P	.	.	.	.	.	.	.	0.885	0.21608	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004555404	0.00094	T	.	.	.	.	.	.	.	.	.	0.8861531642545919	0.88584	.	.	0.307435840368	0.11519	T	0.36385	0.72953	T	.	.	.	.	.	.	.	.	.	0.531447	0.17660	T	0.06646948	0.14306	0.1342713	0.32178	0.06646948	0.14306	0.1342713	0.32177	-7.526	0.57793	D	.	.	0.115	0.23005	B	.	.	1.230747	0.16252	12.42	0.68083136029113001	0.08550	0.71889	0.35210	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999505634468401	0.40062	0.077785	0.01820	0	0.063388	0.01293	0	0.074216	0.02223	0	0.088932	0.02473	0	0.554365	0.40152	4.53	4.53	0.55009	2.265000	0.42968	-2.085000	0.04236	0.756000	0.94297	0.256000	0.24909	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	12.096	0.53057	513	0.74941	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1989.98	36	chr16	2799467	.	A	G	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.550e-01;DP=931;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.466;SOR=0.726	GT:AD:DP:GQ:PL	0/1:108,85:193:99:2004,0,2805	20	0	1	0
chr16	3050484	3050484	A	G	exonic	MMP25	.	nonsynonymous SNV	MMP25:NM_022468:exon4:c.A599G:p.E200G,	.	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.025	B	0.093	B	0.005	N	0.900	D	1.39	L	1.95	T	-1.064	T	0.034	T	0.639	2.012	12.68	4.97	1.865	2.404	8.126	0.112	0.0157342935427	0.0026	0.00299521	0.0040	0.0004	0.0030	0	0.0059	0.0050	0.0093	0.0042	0.0037063	573	154602	rs61753772	0.0030	0.0030	0.0028	0.0031	0.0374	0.0029	0.0029	0.0333	0.0317	0.0022	0.0036	0.0188	0	0.0044	0.0374	0.0022	0.0055	0.0041	0.0033	0.0033	0.0030	0.0035	0.0060	0.0030	0.0029	0.0050	0.0046	0.0007	0	0.0060	0.0187	0	0.0038	0.0544	0.0032	0.0085	0.0041	0.102	0.30235	T	0.115	0.36630	T	0.025	0.19245	B	0.093	0.30104	B	0.005235	0.32979	N	0.135019	0.900016	0.36149	D	1.445	0.36358	L	1.95	0.22474	T	-3.71	0.70674	D	0.409	0.45237	-1.0639	0.10807	T	0.034	0.14769	T	10	0.007707119	0.00175	T	0.015734	0.36624	T	0.112	0.31546	.	.	0.580833741332	0.57755	0.4782806962624008	0.47748	0.664319092626	0.59071	0.421868532896	0.28093	T	0.200117	0.55760	T	-0.382806	0.02991	T	-0.322384	0.42312	T	0.0323805169890309	0.02369	T	0.805819	0.47523	T	0.1698819	0.37530	0.15520324	0.36391	0.1698819	0.37530	0.15520324	0.36391	-8.861	0.66798	D	0.23655069084413585	0.32032	0.282	0.51454	B	.;.	.;.	4.114602	0.61453	24.3	0.99620379997298081	0.75353	0.75012	0.36710	D	AEFBCI	0.238057	0.36024	N	-0.0692736843006788	0.38746	2.27407	0.0789221993397978	0.43489	2.649685	0.284738229942804	0.19024	0.634777	0.41761	0	0.514364	0.08380	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.97	4.97	0.65419	2.310000	0.43368	.	.	0.751000	0.87719	0.841000	0.30301	1.000000	0.68203	0.986000	0.61781	0.8201:0.0:0.0:0.1799	8.126	0.30157	786	0.46839	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	0.04762	1695.11	34	chr16	3050484	.	A	G	1695.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.035e+00;DP=880;ExcessHet=0.1072;FS=5.942;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.114;SOR=1.133	GT:AD:DP:GQ:PL	0/1:30,26:56:99:700,0,831	19	0	2	0
chr16	3141330	3141330	G	A	exonic	ZNF213	.	nonsynonymous SNV	ZNF213:NM_001134655:exon6:c.G1363A:p.A455T	.	.	409	1101	12	0	0	12	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.982	D	0.715	P	0.002	N	0.981	D	0.69	N	3.48	T	-1.053	T	0.025	T	0.467	3.241	16.87	5.09	2.365	0.019	15.987	0.117	0.00860725341356	0.0013	0.000599042	0.0015	0	0.0018	0	0	0.0021	0.0027	0.0011	0.0013325	206	154602	rs147991342	0.0011	0.0011	0.0011	0.0012	0.0151	0.0011	0.0011	0.0122	0.0112	0.0013	0.0015	0.0198	0	0.0001	0.0151	0.0006	0.0030	0.0012	0.0014	0.0014	0.0012	0.0015	0.0022	0.0012	0.0011	0.0016	0.0014	0.0003	0	0.0022	0.0181	0	0	0.0238	0.0011	0.0066	0.0012	0.0	0.91255	D	0.017	0.62352	D	0.982	0.60036	D	0.715	0.54683	P	0.002126	0.37183	N	0.000000	0.981389	0.39771	D	1.145	0.29067	L	3.48	0.07125	T	-1.13	0.29114	N	0.301	0.37405	-1.0532	0.13520	T	0.025	0.10598	T	10	0.0071959794	0.00164	T	0.008607	0.22755	T	0.117	0.32689	.	.	0.577006569591	0.57369	0.05369935016967154	0.05311	1.27873789098	0.82476	0.670651495457	0.62931	T	0.045	0.27142	T	-0.412016	0.01927	T	-0.389237	0.34640	T	0.0370458097129067	0.03163	T	0.740126	0.35895	T	0.22234738	0.44832	0.19705257	0.43467	0.22234738	0.44832	0.19705257	0.43466	-4.54	0.31408	T	.	.	0.092	0.14062	B	.;.;.;.;.	.;.;.;.;.	4.408633	0.68188	25.2	0.99853275999709379	0.93279	0.47008	0.27887	N	AEFDBI	0.353208	0.44571	N	0.109257060374689	0.46894	2.922898	0.10649131400719	0.44878	2.761277	0.968378495061388	0.29047	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	3.281000	0.51389	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.987	0.79960	744	0.52588	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	553.98	21	chr16	3141330	.	G	A	553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.537e+00;DP=645;ExcessHet=0.0000;FS=5.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.29;ReadPosRankSum=0.487;SOR=0.136	GT:AD:DP:GQ:PL	0/1:12,22:34:99:568,0,365	20	0	1	0
chr16	3655478	3655478	G	C	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon2:c.G105C:p.E35D	.	.	409	1101	11	1	0	13	0.00586907	.	.	2811000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.008	B	0.001	N	1.000	D	0.585	N	0.32	T	-1.077	T	0.057	T	0.1	0.713	7.799	2.35	0.263	0.607	2.783	0.020	0.00420915607097	0.0043	0.00179712	0.0040	0.0011	0.0024	0	0.0077	0.0057	0.0066	0.0002	0.0039391	609	154602	rs34907394	0.0048	0.0048	0.0048	0.0048	0.0094	0.0047	0.0047	0.0074	0.0067	0.0007	0.0030	0.0031	0	0.0066	0.0094	0.0054	0.0039	0.0007	0.0036	0.0036	0.0033	0.0039	0.0054	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0037	0.0020	0	0.0062	0.0068	0.0054	0.0057	0.0004	0.719	0.03937	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.001348	0.39310	N	0.284400	1	0.81001	D	1.63	0.41750	L	0.32	0.58468	T	1.59	0.00660	N	0.156	0.16168	-1.0771	0.07922	T	0.057	0.23904	T	10	0.0064407587	0.00146	T	0.004209	0.10153	T	0.020	0.03691	0.37	0.38013	0.421550847248	0.41774	0.6230731396441008	0.62240	0.00669680874539	0.00592	0.41994330287	0.27828	T	0.070235	0.33909	T	-0.520298	0.00438	T	-0.51712	0.20587	T	0.00266594604911538	0.00028	T	0.728927	0.34400	T	0.25621912	0.48660	0.0993211	0.23709	0.25621912	0.48660	0.0993211	0.23708	-3.947	0.23008	T	.	.	0.163	0.35972	B	.;.	.;.	1.060269	0.14419	10.99	0.89907885940127696	0.19208	0.44793	0.27396	N	AEFBCI	0.113087	0.22328	N	-0.784045462461887	0.13725	0.6782469	-0.608971251152748	0.19262	1.032697	0.999670807394452	0.41644	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.491896	0.07777	0	.	.	5.39	2.35	0.28166	0.603000	0.23848	.	.	-0.113000	0.14837	0.978000	0.35038	0.966000	0.29516	0.993000	0.69303	0.1622:0.1532:0.5448:0.1399	2.783	0.05036	596	0.68392	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1208.98	33	chr16	3655478	.	G	C	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.923;DP=827;ExcessHet=0.0000;FS=0.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=0.859;SOR=0.813	GT:AD:DP:GQ:PL	0/1:80,51:131:99:1223,0,1992	20	0	1	0
chr16	11345532	11345532	C	A	exonic	RMI2	.	nonsynonymous SNV	RMI2:NM_152308:exon1:c.C61A:p.P21T,	.	.	446	1073	3	0	0	3	0.001396	.	.	2398080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.848	P	0.507	P	0.000	D	1.000	D	2.045	M	.	.	-0.612	T	0.218	T	0.428	2.279	13.58	3.34	1.842	2.413	10.357	0.155	0.835998813161	.	.	0.0005	0	0	0	.	0	0	0.0008	3.23e-05	5	154602	rs749389763	4.492e-05	5.062e-05	3.732e-05	5.313e-05	0.0006	3.472e-05	3.138e-05	0.0001	0.0001	0	7.131e-05	0.0003	0	0	0.0006	2.748e-05	0.0002	0.0003	7.237e-05	7.219e-05	7.723e-05	6.729e-05	0.0002	3.976e-05	3.131e-05	5.291e-05	2.836e-05	2.409e-05	0	0.0002	0.0006	0	0	0	7.361e-05	0	0	0.0	0.91255	D	0.011	0.92824	D	0.848	0.46844	P	0.507	0.47859	P	0.000000	0.84330	D	0.000000	0.999701	0.81001	D	2.79	0.81396	M	.	.	.	-4.72	0.79998	D	0.613	0.62950	-0.6121	0.64316	T	0.218	0.58033	T	9	0.35976762	0.52637	T	0.835999	0.98730	D	0.155	0.40530	0.299	0.26522	0.304108284078	0.30024	0.4595649377674559	0.45874	1.08563880484	0.77273	0.917646884918	0.98139	D	0.187673	0.54135	T	0.40952	0.90454	D	0.350471	0.90336	D	0.98121052980423	0.73785	D	0.684832	0.29327	T	0.9082915	0.92136	0.8030199	0.88460	0.9082915	0.92137	0.8030199	0.88460	-4.443	0.30136	T	.	.	0.577	0.67928	P	.;.;.	.;.;.	4.113826	0.61441	24.3	0.95474110521271627	0.27025	0.31237	0.24286	N	AEFGBHCIJ	0.208567	0.33464	N	0.288547986479258	0.55566	3.720794	0.248658999030013	0.52573	3.431294	0.999999999999973	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.34	3.34	0.37357	4.002000	0.56766	4.470000	0.43492	0.585000	0.30472	0.992000	0.37556	1.000000	0.68203	0.593000	0.31214	0.0:1.0:0.0:0.0	10.357	0.43154	934	0.15400	.;.;.	.	.	.	.	.	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	0.02381	73.99	8	chr16	11345532	.	C	A	73.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.409e+00;DP=360;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.231;SOR=1.179	GT:AD:DP:GQ:PL	0/1:5,4:9:88:88,0,151	20	0	1	0
chr16	11404797	11404797	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon48:c.C7162T:p.R2388C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs980600838	6.485e-05	3.181e-05	5.754e-05	7.197e-05	0.0006	4.034e-05	3.301e-05	0.0002	0.0001	0.0006	0.0003	0	0	0	0	2.53e-05	0.0004	0	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0004	0.0017	0.0016	0.0020	0	0.0002	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06897259	0.09831	T	.	.	.	.	.	.	.	0.553307244281	0.54988	.	.	.	.	.	.	.	.	.	.	-0.615075	0.00118	T	-0.660904	0.08205	T	.	.	.	0.616838	0.23625	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27009	B	.	.	2.001093	0.25425	16.76	0.85766071846616942	0.16099	0.02272	0.06560	N	AEFDBHCI	0.025956	0.01866	N	.	.	.	.	.	.	0.994353959172307	0.33600	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.604944	0.38103	0	.	.	4.09	-3.96	0.03833	-1.245000	0.03010	-0.164000	0.11293	-0.235000	0.07621	0.001000	0.13787	0.001000	0.17328	0.018000	0.11154	0.4357:0.158:0.2461:0.1602	1.093	0.01563	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1084.98	41	chr16	11404797	.	G	A	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=902;ExcessHet=0.0000;FS=2.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-2.410e-01;SOR=1.071	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1099,0,953	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	2/2:0,0,10,0,0:10:30:437,438,438,30,30,0,438,438,30,438,438,438,30,438,438	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	2/2:0,0,10,0,0:10:30:437,438,438,30,30,0,438,438,30,438,438,438,30,438,438	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	2/2:0,0,10,0,0:10:30:437,438,438,30,30,0,438,438,30,438,438,438,30,438,438	7	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:84,43:152:99:187,0,1350	1	0	20	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1565.86	33	chr16	14667707	.	GCCCC	G	1565.86	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-5.750e-01;DP=1119;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=0.627;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,18:79:99:0|1:14667707_GCCCC_G:226,0,2335:14667707	13	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,18,0,0:79:99:0|1:14667707_GCCCC_G:226,0,2335,409,2387,2796,409,2387,2796,2796:14667707	12	0	6	1
chr16	14667711	14667711	-	GGGA	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGA:p.L288Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,18,0,0:79:99:0|1:14667707_GCCCC_G:226,0,2335,409,2387,2796,409,2387,2796,2796:14667707	12	0	6	1
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1543.44	38	chr16	14667711	.	C	CGGGG,CGGGA,CTGGG	1543.44	.	AC=6,1,1;AF=0.150,0.025,0.025;AN=40;BaseQRankSum=-2.910e-01;DP=1215;ExcessHet=3.5521;FS=95.623;InbreedingCoeff=-0.2571;MLEAC=6,1,1;MLEAF=0.150,0.025,0.025;MQ=60.00;MQRankSum=0.00;QD=2.44;ReadPosRankSum=0.612;SOR=9.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,18,0,0:79:99:0|1:14667707_GCCCC_G:226,0,2335,409,2387,2796,409,2387,2796,2796:14667707	12	0	6	1
chr16	14726177	14726177	C	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	723.05	7	chr16	14726177	.	C	T,*	723.05	.	AC=11,1;AF=0.306,0.028;AN=36;BaseQRankSum=-2.530e-01;DP=150;ExcessHet=1.2501;FS=3.780;InbreedingCoeff=-0.0715;MLEAC=12,1;MLEAF=0.333,0.028;MQ=24.72;MQRankSum=-5.240e-01;QD=10.96;ReadPosRankSum=0.036;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,3,0:3:9:.:.:83,9,0,83,9,83	8	2	7	3
chr16	18324414	18324414	G	A	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.C277T:p.R93C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	.	.	.	.	0.36	T	-0.948	T	0.119	T	0.081	0.733	7.894	0.376	-1.326	-1.511	.	0.113	0.0081457413965	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157031326	0.0009	0.0012	0.0009	0.0009	0.0018	0.0008	0.0008	0.0012	0.0010	0.0018	0.0005	0.0003	0.0012	0.0007	0.0005	0.0008	0.0018	0.0008	0.0004	0.0009	0.0006	0.0003	0.0017	0.0003	0.0002	0.0006	0.0004	0.0006	0	0	0	0.0017	0	0	0.0003	0.0017	0.0007	0.092	0.31682	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.57880	T	-3.52	0.68412	D	0.071	0.04426	-0.9481	0.41296	T	0.119	0.41691	T	4	0.019787282	0.00446	T	0.008146	0.21598	T	0.113	0.31778	0.336	0.32491	0.187945064343	0.18414	0.0018386534374030606	0.00169	.	.	.	.	.	0.069445	0.33711	T	-0.26369	0.12472	T	-0.616549	0.11459	T	0.0444860063165874	0.04508	T	.	.	.	0.13524553	0.31395	0.12266561	0.29586	0.13524553	0.31395	0.12266561	0.29585	-5.443	0.41331	T	.	.	0.130	0.27791	B	.;.	.;.	1.770332	0.22515	15.65	0.99178656209733851	0.54614	0.00357	0.01833	N	AEFI	0.032978	0.03827	N	-1.17707384010669	0.05348	0.2435711	-1.37289109591369	0.03543	0.1655022	3.50767356219701E-6	0.01202	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.376	0.376	0.15424	-1.514000	0.02358	-1.928000	0.04482	-1.078000	0.01575	0.333000	0.25615	0.000000	0.08366	0.002000	0.04165	.	.	.	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	282.58	30	chr16	18324414	.	G	A	282.58	.	AC=2;AF=0.056;AN=36;DP=312;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9006;MLEAC=2;MLEAF=0.056;MQ=26.09;QD=28.26;SOR=3.258	GT:AD:DP:GQ:PL	1/1:0,10:10:30:308,30,0	17	1	0	3
chr16	20969969	20969969	C	G	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon52:c.G8143C:p.A2715P	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	D	1.000	D	4.19	H	-1.41	T	0.835	D	0.819	D	0.724	4.286	22.4	5.84	2.788	5.670	20.201	0.556	0.0768449008193	.	.	5.77e-05	0	0	0	0	7.499e-05	0	0.0001	5.17e-05	8	154602	rs370489380	2.463e-05	2.463e-05	1.77e-05	3.163e-05	0.0005	1.803e-05	1.6e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.068e-05	3.311e-05	9.275e-05	4.599e-05	4.596e-05	5.137e-05	4.035e-05	7.348e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	2.412e-05	0	6.542e-05	0	0	0	0	7.348e-05	0	0	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.025	0.96902	H	-1.41	0.80560	T	-4.62	0.79143	D	0.691	0.69649	0.835	0.94837	D	0.819	0.93912	D	10	0.8320776	0.82369	D	0.076845	0.72628	D	0.556	0.81717	0.339	0.32979	0.45470266194	0.45092	0.7852535246067591	0.78476	0.549024000067	0.51818	0.641664743423	0.58801	T	0.71419	0.91871	D	0.0325286	0.56059	T	0.0832483	0.75794	D	0.935841679573059	0.60438	D	0.988589	0.96114	D	0.978781	0.99015	0.948486	0.98307	0.978781	0.99015	0.948486	0.98308	-15.257	0.96427	D	.	.	0.984	0.92019	P	.	.	3.224095	0.43936	21.8	0.9969568987641525	0.80248	0.99486	0.96617	D	AEFBI	0.911350	0.87050	D	0.886812083709216	0.91099	10.71496	0.761818270081194	0.87038	9.085888	0.99999999999975	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	5.742000	0.68284	5.891000	0.50761	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.095000	0.18041	0.0:1.0:0.0:0.0	20.201	0.98261	315	0.87208	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	679.98	40	chr16	20969969	.	C	G	679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.721e+00;DP=811;ExcessHet=0.0000;FS=1.088;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.460e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/1:23,27:50:99:694,0,624	20	0	1	0
chr16	21404541	21404541	C	T	exonic	NPIPB3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	N	.	.	.	.	.	.	.	.	.	-0.375	2.238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.588e-05	0	0	.	0	0	.	.	0	0	.	.	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1111	64.94	1	chr16	21404541	.	C	T	64.94	.	AC=2;AF=0.111;AN=18;DP=13;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2375;MLEAC=3;MLEAF=0.167;MQ=32.63;QD=32.47;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:72,6,0	8	1	0	12
chr16	23692298	23692298	C	T	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon17:c.G1978A:p.V660M	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.77	L	0.48	T	-0.649	T	0.258	T	0.592	4.177	21.6	3.66	0.706	2.328	8.638	0.329	0.0336579293171	0.0003	0.000399361	0.0003	0.0003	0.0003	0	0	0.0004	0	6.058e-05	0.0002587	40	154602	rs143193519	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	8.961e-05	0.0003	0	2.519e-05	1.882e-05	0	0.0006	0.0005	1.159e-05	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	9.62e-05	0	0.0008	0	0	0.0002	0	0.0005	0	0	0.002	0.72154	D	0.002	0.79402	D	0.963	0.55692	D	0.449	0.46066	P	0.000001	0.84330	D	0.000000	0.999987	0.54805	D	0.855	0.21307	L	0.48	0.55945	T	-2.66	0.56945	D	0.551	0.57690	-0.6494	0.62740	T	0.258	0.62889	T	10	0.19137722	0.34821	T	0.033658	0.55136	D	0.329	0.65126	.	.	0.86726825915	0.86597	0.7319072637607268	0.73135	0.57309359256	0.53376	0.725227534771	0.70810	T	0.326144	0.69679	T	-0.220623	0.17907	T	-0.222622	0.52484	T	0.139820381999016	0.16260	T	0.984602	0.94707	D	0.5066997	0.67487	0.6441828	0.79201	0.5066997	0.67488	0.6441828	0.79202	-9.429	0.70417	D	.	.	0.296	0.52688	B	.;.	.;.	4.000903	0.58953	24.0	0.99888041443816522	0.96281	0.92747	0.56447	D	AEFDGBCI	0.556489	0.56650	D	0.382624308960599	0.60479	4.237415	0.365951570720816	0.59473	4.125603	0.999999244312874	0.74766	0.660377	0.49826	0	0.572659	0.20510	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	5.65	3.66	0.41111	2.384000	0.44017	1.153000	0.24496	0.599000	0.40250	1.000000	0.71638	0.579000	0.25612	0.998000	0.85391	0.1518:0.7687:0.0:0.0796	8.638	0.33123	365	0.84644	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	42	chr16	23692298	.	C	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.165;DP=831;ExcessHet=0.0000;FS=1.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=0.505;SOR=0.902	GT:AD:DP:GQ:PL	0/1:59,43:102:99:1028,0,1510	20	0	1	0
chr16	28342996	28342996	C	T	exonic	NPIPB6	.	nonsynonymous SNV	NPIPB6:NM_001282524:exon7:c.G889A:p.D297N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.998	D	.	.	1.000	N	1.905	M	0.3	T	-0.824	T	0.286	T	0.03	1.370	10.51	.	0.088	0.055	.	0.116	0.0051847883527	.	.	1.214e-05	0	0	0	0	0	0	7.375e-05	3.84e-05	1	26028	rs765978381	1.616e-05	1.575e-05	5.592e-06	2.682e-05	0.0003	1.076e-05	8.99e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	7.114e-06	6.615e-06	0	1.465e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.071	0.45530	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.475	0.71894	M	0.3	0.58755	T	-2.89	0.60827	D	0.117	0.11483	-0.8235	0.53714	T	0.286	0.65812	T	7	0.20683223	0.36958	T	0.005185	0.13187	T	0.116	0.32463	0.574	0.69826	0.256237801699	0.25221	0.02780060632763059	0.02730	2.77570733876	0.98820	.	.	.	0.086171	0.37665	T	-0.435664	0.01371	T	-0.615269	0.11561	T	0.429085979971711	0.30027	T	0.933007	0.75346	D	0.30547476	0.53391	0.29466426	0.55497	0.30547476	0.53391	0.29466426	0.55496	-6.855	0.52967	T	.	.	0.244	0.47869	B	.;.	.;.	1.821152	0.23141	15.90	0.99462438755137261	0.65892	0.00273	0.01482	N	AEFI	0.024062	0.01430	N	-0.466158326051837	0.23195	1.24391	-0.79212310241979	0.14689	0.7687629	1.09666439460031E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.153000	0.16140	-6.647000	0.01342	0.168000	0.17747	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	2514.11	33	chr16	28342996	.	C	T	2514.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.489e+00;DP=2095;ExcessHet=0.0000;FS=12.538;InbreedingCoeff=0.9821;MLEAC=2;MLEAF=0.048;MQ=44.40;MQRankSum=2.71;QD=27.33;ReadPosRankSum=0.646;SOR=0.247	GT:AD:DP:GQ:PL	1/1:5,87:92:60:2542,60,0	20	1	0	0
chr16	28595447	28595447	T	C	exonic	SULT1A2	.	nonsynonymous SNV	SULT1A2:NM_001054:exon4:c.A292G:p.N98D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	0.342	N	1.000	N	-0.195	N	-1.58	D	-0.939	T	0.218	T	0.231	-0.095	3.533	2.68	0.069	-0.260	5.299	0.033	0.0112989523336	.	.	0.0002	0	0.0021	0.0005	0	0	0	0	3.84e-05	1	26028	rs747728105	8.277e-05	8.619e-05	9.801e-05	6.738e-05	0.0016	7.069e-05	6.618e-05	0.0013	0.0012	0.0003	0.0016	0	2.519e-05	0	0	2.518e-05	4.968e-05	6.956e-05	8.567e-05	9.856e-05	5.152e-05	0.0001	0.0003	4.971e-05	3.973e-05	0.0001	8.31e-05	0.0002	0	0.0003	0	0	0	0	0	0.0005	0	0.644	0.04957	T	0.612	0.07716	T	0.0	0.02946	B	0.0	0.01387	B	0.341651	0.13954	N	0.703382	1	0.08975	N	-0.55	0.02420	N	-1.58	0.81987	D	0.12	0.08971	N	0.1	0.08227	-0.9386	0.42837	T	0.218	0.58020	T	10	0.0084011555	0.00191	T	0.011299	0.28784	T	0.147	0.38986	0.321	0.30064	0.491928505054	0.48827	0.29963790717402866	0.29876	0.0796276468313	0.08961	0.488526552916	0.37233	T	0.077007	0.49539	T	-0.682764	0.00046	T	-0.759996	0.03113	T	0.00263492063492064	0.00027	T	0.00514564	0.00017	T	0.11884402	0.27995	0.07150821	0.15320	0.11884402	0.27994	0.07150821	0.15320	-3.136	0.11714	T	.	.	0.080	0.09239	B	.;.;.	.;.;.	0.112664	0.05119	1.647	0.80724049057996883	0.13338	0.00167	0.00991	N	AEFDBCI	0.084601	0.17147	N	-1.28701286428173	0.03831	0.1718413	-1.23307903385105	0.05386	0.2565171	0.999722324237139	0.42220	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.7	2.68	0.30839	-0.374000	0.07541	-0.726000	0.07683	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.308000	0.24690	0.0:0.4986:0.3188:0.1827	5.299	0.15077	682	0.59757	Sulfotransferase domain;Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1955.98	34	chr16	28595447	.	T	C	1955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.33;MQRankSum=-5.459e+00;QD=13.04;ReadPosRankSum=-6.860e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:81,69:150:99:1970,0,2321	20	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,43,0:218:99:0|1:29485610_ACACACTC_A:427,0,6330,956,6440,7396:29485610	7	0	12	0
chr16	31094710	31094710	C	A	exonic	VKORC1	.	nonsynonymous SNV	VKORC1:NM_001311311:exon1:c.G20T:p.S7I	Vitamin K-dependent clotting factors, combined deficiency of, 2;Warfarin resistance, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877	P	0.368	B	0.501	N	0.958	D	0.69	N	-3.02	D	0.153	D	0.744	D	0.137	4.867	27.8	-6.99	-1.174	-0.226	8.092	0.222	0.161481074305	.	.	3.933e-05	0	0	0	0	4.801e-05	0	7.795e-05	1.94e-05	3	154602	rs755166588	1.993e-05	2.189e-05	2.051e-05	1.934e-05	8.167e-05	1.398e-05	1.209e-05	3.787e-05	2.675e-05	0	0	0	2.527e-05	0	0	1.711e-05	3.325e-05	8.167e-05	1.97e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.117	0.51248	T	0.01	0.65728	D	0.001	0.07471	B	0.001	0.04355	B	0.500702	0.11953	N	0.745447	0.958088	0.38057	D	1.355	0.33814	L	-4.1	0.98066	D	0.11	0.08495	N	0.273	0.30914	0.153	0.85116	D	0.744	0.91270	D	9	0.108789444	0.20267	T	0.161481	0.84126	D	0.222	0.51872	0.358	0.36060	0.571517596161	0.56818	0.6782817814199165	0.67767	0.525427782564	0.50207	0.493508338928	0.37926	T	0.074251	0.34893	T	0.0266393	0.55274	T	-0.199511	0.54693	T	0.29608166217804	0.24842	T	0.817118	0.47523	T	0.09535187	0.22439	0.067633286	0.14018	0.09535187	0.22438	0.067633286	0.14017	-5.896	0.46464	T	.	.	0.216	0.48928	B	.;.;.;.;.;.	.;.;.;.;.;.	0.555164	0.09238	6.020	0.98287027986824549	0.39907	0.23841	0.22205	N	ALL	0.169751	0.29661	N	-1.2737141198175	0.03995	0.1795083	-1.35928966037822	0.03697	0.1730138	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	-6.99	0.01449	-0.414000	0.07179	.	.	-1.011000	0.01765	0.898000	0.31380	0.000000	0.08366	0.774000	0.36673	0.1148:0.5945:0.0:0.2907	8.092	0.29964	41	0.97903	.;.;Vitamin K epoxide reductase;.;.;Vitamin K epoxide reductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	698.98	35	chr16	31094710	.	C	A	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.331e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-2.928e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:27,26:53:99:713,0,758	20	0	1	0
chr16	31360327	31360327	C	G	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon8:c.C725G:p.A242G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.066	B	0.017	B	.	.	1.000	N	1.59	L	-1.67	D	-0.634	T	0.401	T	0.139	1.112	9.536	2.6	1.320	0.319	9.258	0.101	0.0292488694906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.757e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.21144	T	0.139	0.33666	T	0.066	0.23586	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	-1.67	0.82806	D	-1.69	0.40274	N	0.088	0.09207	-0.6345	0.63380	T	0.401	0.75252	T	9	0.10642916	0.19721	T	0.029249	0.51792	D	0.101	0.28911	0.418	0.45873	0.631602580773	0.62858	0.580785584084518	0.58007	0.215413561457	0.24069	0.279822796583	0.07467	T	0.211377	0.57213	T	-0.102727	0.35974	T	-0.385336	0.35098	T	0.0759893885118709	0.09467	T	0.432057	0.11757	T	0.32753953	0.55269	0.21408725	0.45945	0.32753953	0.55269	0.21408725	0.45944	-5.329	0.40229	T	.	.	0.111	0.23430	B	.;.	.;.	1.367027	0.17764	13.36	0.90572996767062097	0.19827	0.16201	0.19278	N	AEFDBI	0.108268	0.21544	N	-0.724559140907063	0.15332	0.7717987	-0.765275220444868	0.15348	0.8067251	0.999857510691531	0.44174	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.73	2.6	0.30173	0.727000	0.25667	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.162:0.6806:0.1574:0.0	9.258	0.36757	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08824	87.54	43	chr16	31360327	.	C	G	87.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.288e+00;DP=930;ExcessHet=0.3300;FS=312.897;InbreedingCoeff=-0.1554;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=-4.310e-01;SOR=9.289	GT:AD:DP:GQ:PL	0/1:26,9:35:29:29,0,483	14	0	3	4
chr16	50104942	50104942	C	A	exonic	HEATR3	.	nonsynonymous SNV	HEATR3:NM_001329731:exon14:c.C1231A:p.R411S	.	.	430	1086	5	1	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.99	D	0.839	P	0.000	D	1.000	D	2.075	M	0.51	T	-0.541	T	0.276	T	0.918	3.953	20.2	4.91	1.442	2.909	14.673	0.379	0.037376444487	.	0.000599042	0.0016	0.0005	0.0041	0	0	0.0020	0.0022	0.0002	0.0014101	218	154602	rs141326733	0.0012	0.0012	0.0012	0.0012	0.0094	0.0012	0.0011	0.0073	0.0066	0.0009	0.0028	0.0131	0	7.545e-05	0.0094	0.0009	0.0028	0.0006	0.0010	0.0010	0.0011	0.0009	0.0020	0.0009	0.0008	0.0014	0.0012	0.0003	0.0033	0.0020	0.0138	0	0	0.0068	0.0009	0.0019	0.0002	0.007	0.59928	D	0.008	0.67890	D	0.989	0.62824	D	0.628	0.51677	P	0.000003	0.62929	D	0.063337	0.999997	0.58761	D	2.515	0.73286	M	0.51	0.55439	T	-3.74	0.71042	D	0.805	0.80083	-0.5413	0.67114	T	0.276	0.64794	T	10	0.02362606	0.00624	T	0.037376	0.57578	D	0.379	0.69696	.	.	0.784680639128	0.78268	0.5182827558583151	0.51751	0.458982957277	0.45497	0.462295114994	0.33625	T	0.209527	0.56977	T	-0.055587	0.43593	T	0.14245	0.79703	D	0.039831722697667	0.03660	T	0.90351	0.66162	D	0.5611216	0.70572	0.4589754	0.68568	0.5611216	0.70573	0.4589754	0.68569	-7.734	0.59244	D	.	.	0.825	0.78481	P	.	.	3.749657	0.53743	23.4	0.99685069755893041	0.79507	0.94391	0.61016	D	AEFBI	0.463643	0.51247	N	0.48137126087024	0.66002	4.894179	0.468544706869694	0.65915	4.884658	0.997566039799412	0.35763	0.706548	0.73137	0	0.708844	0.79440	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.88	4.91	0.63897	2.988000	0.49074	1.681000	0.28012	0.596000	0.33519	0.992000	0.37556	0.999000	0.35428	0.966000	0.53164	0.2642:0.7358:0.0:0.0	14.673	0.68567	562	0.71143	.	.	.	.	.	.	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	0.04762	2117.11	33	chr16	50104942	.	C	A	2117.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=776;ExcessHet=0.1072;FS=0.693;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=0.547;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,31:67:99:0|1:50104941_A_T:1177,0,1383:50104941	19	0	2	0
chr16	51141030	51141030	C	T	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.G901A:p.A301T	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.205	B	0.026	B	0.000	N	1.000	N	0	N	3.21	T	-0.952	T	0.010	T	0.173	1.804	11.99	4.23	1.174	2.892	6.536	0.040	0.00857277523777	.	.	3.295e-05	0	0	0.0001	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs750514153	2.326e-05	2.326e-05	1.906e-05	2.75e-05	0.0002	1.674e-05	1.477e-05	3.348e-05	1.981e-05	2.987e-05	4.472e-05	0	0.0001	3.744e-05	0.0002	1.709e-05	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.139	0.34837	T	0.205	0.29827	B	0.026	0.20792	B	0.000266	0.46590	N	0.250702	1	0.81001	D	1.39	0.34934	L	3.21	0.07353	T	-0.37	0.13226	N	0.029	0.00666	-0.9517	0.40678	T	0.010	0.03856	T	10	0.09012124	0.15672	T	0.008573	0.22655	T	0.040	0.10527	0.269	0.21735	0.264728329957	0.26087	0.1919869903384901	0.19116	0.21363709283	0.23881	0.447858542204	0.31652	T	0.171186	0.51922	T	-0.371514	0.03519	T	-0.568777	0.15561	T	0.142334759235382	0.16474	T	0.562144	0.19728	T	0.0305165	0.02728	0.049756512	0.07671	0.0305165	0.02728	0.049756512	0.07670	-3.529	0.17756	T	0.19819465601958425	0.26237	0.064	0.02733	B	.;.;.	.;.;.	2.276826	0.29111	18.02	0.98732103648649994	0.45363	0.69977	0.34403	D	AEFDBCI	0.244413	0.36552	N	-0.452405827958119	0.23657	1.27202	-0.254952694404257	0.29600	1.659712	0.979093009227836	0.29991	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	5.18	4.23	0.49319	2.885000	0.48269	1.416000	0.26322	-0.173000	0.11020	1.000000	0.71638	0.784000	0.26805	0.399000	0.26759	0.0:0.6875:0.0:0.3125	6.536	0.21552	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1508.98	73	chr16	51141030	.	C	T	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=1216;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.713;SOR=0.770	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1523,0,1522	20	0	1	0
chr16	67842923	67842923	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.369_370insCAG:p.Q132_S133insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8936.32	34	chr16	67842920	.	ACAG	A,ACAGCAG	8936.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.124;DP=1180;ExcessHet=0.9430;FS=4.197;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.55;ReadPosRankSum=0.922;SOR=1.032	GT:AD:DP:GQ:PL	0/1:20,15,0:35:99:563,0,767,623,812,1435	13	1	6	0
chr16	67992160	67992160	C	T	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001369657:exon3:c.G424A:p.D142N	.	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.021	B	0.019	N	1.000	D	0.97	L	1.94	T	-1.062	T	0.020	T	0.085	0.205	5.104	3.16	1.337	0.867	6.320	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1752.98	34	chr16	67992160	.	C	T	1752.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.312;DP=841;ExcessHet=0.0000;FS=5.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-6.930e-01;SOR=1.162	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1767,0,1649	20	0	1	0
chr16	68364898	68364898	C	T	exonic	SMPD3	.	nonsynonymous SNV	SMPD3:NM_018667:exon5:c.G1408A:p.A470T,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.106	B	0.025	B	0.002	N	0.624	D	0.135	N	-1.41	T	-0.751	T	0.206	T	0.096	1.937	12.43	4.63	2.666	1.535	6.501	0.154	0.0170635210108	.	0.000199681	1.666e-05	0	0	0.0001	0	1.515e-05	0	0	1.94e-05	3	154602	rs200518296	1.711e-05	1.71e-05	1.498e-05	1.926e-05	0.0002	1.174e-05	9.92e-06	4.58e-05	3.274e-05	0	2.238e-05	0	0	0	0.0002	1.169e-05	3.313e-05	9.279e-05	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	6.828e-05	2.857e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.59	0.05808	T	0.621	0.07444	T	0.02	0.18235	B	0.005	0.11217	B	0.001769	0.38052	N	0.289862	0.624097	0.32731	D	0.195	0.09149	N	-1.41	0.80560	T	-0.42	0.14193	N	0.127	0.19861	-0.7512	0.57873	T	0.206	0.56458	T	10	0.03395185	0.01587	T	0.017064	0.38601	T	0.154	0.40340	.	.	0.261638197198	0.25763	0.20292419378786983	0.20209	0.201851073851	0.22596	0.41278886795	0.26843	T	0.185427	0.53840	T	-0.258724	0.13050	T	-0.440288	0.28777	T	0.173656095684008	0.18825	T	0.590441	0.21827	T	0.092719324	0.21759	0.05666178	0.10162	0.092719324	0.21759	0.05666178	0.10161	-4.762	0.34145	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	3.363865	0.46455	22.3	0.97762720057365493	0.35819	0.60998	0.31356	D	ALL	0.056466	0.10442	N	-0.294355767607891	0.29365	1.627827	-0.0627061672663783	0.36945	2.156695	0.99999999977612	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.298653	0.05632	1	0.562822	0.20929	0	.	.	5.67	4.63	0.57175	0.992000	0.29268	2.713000	0.34251	0.594000	0.32500	0.554000	0.27377	0.994000	0.32194	0.989000	0.64315	0.0:0.8513:0.0:0.1487	6.501	0.21365	42	0.97857	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	924.98	33	chr16	68364898	.	C	T	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.197e+00;DP=794;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=0.328;SOR=0.579	GT:AD:DP:GQ:PL	0/1:57,39:96:99:939,0,1583	20	0	1	0
chr16	68564262	68564262	C	T	exonic	ZFP90	.	nonsynonymous SNV	ZFP90:NM_001305203:exon5:c.C1475T:p.P492L	.	.	378	1143	1	0	0	1	0.000437254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.338	B	0.158	B	.	.	1.000	D	0.1	N	2.27	T	-1.052	T	0.031	T	0.408	4.132	21.3	5.85	2.941	.	18.036	0.147	0.00545758586682	.	.	3.313e-05	0	0.0003	0	0	1.499e-05	0	0	2.59e-05	4	154602	rs759237139	1.847e-05	1.847e-05	2.042e-05	1.65e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0001	0	0.0003	0	0	0	0	1.079e-05	3.312e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	6.548e-05	2.18e-06	8.2e-07	.	.	0	0	6.548e-05	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.003	0.76473	D	0.338	0.33405	B	0.158	0.34617	B	.	.	.	.	0.999958	0.52396	D	-0.765	0.01685	N	2.27	0.17431	T	-0.64	0.18670	N	0.355	0.41162	-1.0515	0.13981	T	0.031	0.13461	T	9	0.15154734	0.28643	T	0.005458	0.14045	T	0.147	0.38986	0.395	0.42099	0.415564226483	0.41173	0.21993080165350462	0.21909	0.255077741533	0.28099	0.454037129879	0.32496	T	0.036484	0.24122	T	-0.34705	0.04915	T	-0.451577	0.27523	T	0.0986380831924072	0.12207	T	0.394461	0.09873	T	0.105353594	0.24909	0.11755878	0.28378	0.105353594	0.24908	0.11755878	0.28377	-4.196	0.26694	T	.	.	0.189	0.40618	B	.;.;.	.;.;.	4.666208	0.74536	26.2	0.99881206757063912	0.95733	0.00347	0.01793	N	AEFDBHCI	0.523411	0.54702	D	0.0142558190318363	0.42503	2.562162	0.183256159717294	0.48929	3.102481	0.999999985609875	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.602482	0.37289	1	.	.	5.85	5.85	0.93663	3.699000	0.54511	5.981000	0.52169	0.596000	0.33519	0.967000	0.34061	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.036	0.89229	224	0.91330	.;.;.	.	.	.	.	.	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	0.02381	1643.98	43	chr16	68564262	.	C	T	1643.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.286e+00;DP=866;ExcessHet=0.0000;FS=5.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.78;ReadPosRankSum=-7.060e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1658,0,1183	20	0	1	0
chr16	72787701	72787703	GCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7831_7833del:p.G2613del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/3:60,0,3,54:117:99:2005,2209,4784,2088,4693,4806,0,2467,2347,2279	16	0	3	0
chr16	72787703	72787703	-	GCC	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7830_7831insGGC:p.G2613_S2614insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	19724.38	41	chr16	72787694	.	AGCCGCCGCC	A,AGCCGCC,AGCCGCCGCCGCC	19724.38	.	AC=4,1,1;AF=0.095,0.024,0.024;AN=42;BaseQRankSum=0.863;DP=1981;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=4,1,1;MLEAF=0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=21.16;ReadPosRankSum=-6.700e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/3:60,0,3,54:117:99:2005,2209,4784,2088,4693,4806,0,2467,2347,2279	16	0	3	0
chr16	75166821	75166821	G	C	exonic	ZFP1	.	nonsynonymous SNV	ZFP1:NM_001318469:exon3:c.G67C:p.E23Q	.	.	418	1088	16	0	0	16	0.00729927	.	.	2817811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.62	T	0.113	B	0.047	B	0.000	D	1.000	D	-1.3	N	4.56	T	-0.810	T	0.002	T	0.38	-0.049	3.762	3.49	2.254	2.002	13.288	0.095	0.00491419504776	0.0027	0.00179712	0.0034	0.0003	0.0024	0	0.0023	0.0046	0.0044	0.0035	0.0034346	531	154602	rs144244672	0.0033	0.0033	0.0031	0.0035	0.0224	0.0032	0.0032	0.0192	0.0180	0.0012	0.0022	0.0065	0	0.0020	0.0224	0.0035	0.0035	0.0027	0.0027	0.0027	0.0028	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0007	0.0363	0.0015	0.0066	0	0.0024	0.0102	0.0038	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.113	0.26349	B	0.047	0.24832	B	0.000331	0.45700	D	0.000000	0.817792	0.81001	D	-0.735	0.01762	N	4.56	0.01933	T	1.1	0.01229	N	0.47	0.50778	-0.8104	0.54526	T	0.002	0.00676	T	10	0.00496307	0.00106	T	0.004914	0.12349	T	0.095	0.27398	.	.	0.128392430309	0.12331	0.19432268172277734	0.19350	.	.	0.472400009632	0.35010	T	0.037296	0.24423	T	-0.51048	0.00499	T	-0.506566	0.21668	T	0.0156920112932303	0.00362	T	.	.	.	0.12471209	0.29253	0.09485437	0.22470	0.12471209	0.29253	0.09485437	0.22469	-2.146	0.03787	T	.	.	0.162	0.35788	B	.;.;.;.	.;.;.;.	2.714677	0.35491	19.91	0.10846595160779186	0.00147	0.96381	0.68860	D	AEFBI	0.214358	0.33983	N	-0.526837880701103	0.21215	1.124292	-0.299598914913492	0.28112	1.564871	0.998556352403325	0.37186	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.49	3.49	0.39065	2.300000	0.43280	6.032000	0.52931	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	13.288	0.59690	788	0.46569	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1417.98	41	chr16	75166821	.	G	C	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=797;ExcessHet=0.0000;FS=3.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=1.40;SOR=0.762	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1432,0,990	20	0	1	0
chr16	77367450	77367450	G	A	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_199355:exon4:c.C769T:p.R257C,	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1450484	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.395	M	2.07	T	-0.170	T	0.387	T	0.8	4.439	23.6	4.01	1.276	6.039	14.343	0.436	0.237580525956	.	.	4.121e-05	0	0	0	0	2.998e-05	0	0.0002	3.23e-05	5	154602	rs765623782	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0001	1.456e-05	1.264e-05	6.246e-05	4.757e-05	2.987e-05	0	0	2.519e-05	0	0	1.439e-05	3.311e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	0.08	0.61559	T	-4.78	0.80510	D	0.764	0.76203	-0.1698	0.78433	T	0.387	0.74180	T	10	0.84236765	0.83394	D	0.237581	0.88550	D	0.436	0.74093	.	.	0.83866937364	0.83712	0.5077151532028961	0.50693	.	.	0.757261157036	0.75522	T	0.350	0.71820	T	-0.0259074	0.48008	T	0.0295569	0.72250	D	0.866707623004913	0.51676	D	0.926207	0.72857	D	0.50980234	0.67668	0.47283018	0.69441	0.50980234	0.67669	0.47283018	0.69441	-12.28	0.86188	D	.	.	0.400	0.59567	A	.	.	5.875241	0.93908	33	0.99932245390923091	0.99439	0.96535	0.69625	D	AEFBI	0.854342	0.77136	D	0.662402314671033	0.77175	6.624097	0.598364433465911	0.74820	6.202947	0.999631389136412	0.41205	0.562547	0.31514	0	0.573888	0.26702	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.99	4.01	0.45821	6.340000	0.72922	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1491:0.8509:0.0	14.343	0.66201	784	0.47045	.	.	.	.	.	.	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	0.02381	1595.98	34	chr16	77367450	.	G	A	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=860;ExcessHet=0.0000;FS=3.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.296e+00;SOR=0.474	GT:AD:DP:GQ:PL	0/1:97,63:160:99:1610,0,2386	20	0	1	0
chr16	84657828	84657828	G	A	exonic	KLHL36	.	nonsynonymous SNV	KLHL36:NM_001303451:exon3:c.G1021A:p.A341T	.	.	412	1104	5	1	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.019	B	0.033	B	0.000	D	1.000	D	2	M	1.4	T	-1.040	T	0.069	T	0.544	3.210	16.75	4.79	1.401	5.583	9.579	0.178	0.00904242596581	0.0046	0.00179712	0.0036	0.0006	0.0014	0	0.0059	0.0048	0.0064	0.0030	0.0033053	511	154602	rs117873154	0.0051	0.0051	0.0052	0.0050	0.0058	0.0050	0.0050	0.0056	0.0056	0.0010	0.0025	0.0030	2.535e-05	0.0053	0.0044	0.0058	0.0059	0.0021	0.0038	0.0038	0.0040	0.0036	0.0059	0.0035	0.0034	0.0054	0.0052	0.0010	0	0.0028	0.0023	0	0.0055	0.0136	0.0059	0.0076	0.0017	0.025	0.47320	D	0.107	0.39040	T	0.019	0.17989	B	0.033	0.22329	B	0.000000	0.84330	D	0.049257	0.999999	0.58761	D	1.79	0.46772	L	-1.38	0.80301	T	-3.2	0.64710	D	0.467	0.50778	-1.0400	0.17313	T	0.069	0.28247	T	10	0.012141705	0.00262	T	0.009042	0.23797	T	0.178	0.44724	.	.	0.342376198884	0.33841	0.7697341058369549	0.76922	0.50453457228	0.48728	0.751836001873	0.74718	T	0.597636	0.87057	D	-0.245412	0.14666	T	-0.121987	0.61640	T	0.0236451710741958	0.01101	T	0.845015	0.52334	T	0.26467484	0.49535	0.26537204	0.52369	0.26467484	0.49535	0.26537204	0.52368	-6.247	0.48301	T	.	.	0.132	0.45024	B	.;.	.;.	3.369659	0.46563	22.3	0.99573005998476183	0.72501	0.98098	0.79581	D	AEFDBI	0.554038	0.56505	D	-0.0033123071364118	0.41704	2.499404	0.109717659886322	0.45045	2.774694	0.999999926071844	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.76	4.79	0.60909	5.693000	0.67926	9.911000	0.82427	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.074:0.1432:0.7829:0.0	9.579	0.38644	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	0.02381	837.98	40	chr16	84657828	.	G	A	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.035e+00;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=0.329;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,32:64:99:852,0,893	20	0	1	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/2:0,47,5,0,0,0:52:49:2277,200,49,1821,0,1707,2159,201,1787,2097,2159,201,1787,2097,2097,2159,201,1787,2097,2097,2097	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/2:0,47,5,0,0,0:52:49:2277,200,49,1821,0,1707,2159,201,1787,2097,2159,201,1787,2097,2097,2159,201,1787,2097,2097,2097	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/2:0,47,5,0,0,0:52:49:2277,200,49,1821,0,1707,2159,201,1787,2097,2159,201,1787,2097,2097,2159,201,1787,2097,2097,2097	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/2:0,47,5,0,0,0:52:49:2277,200,49,1821,0,1707,2159,201,1787,2097,2159,201,1787,2097,2097,2159,201,1787,2097,2097,2097	4	4	6	0
chr16	88865043	88865043	T	A	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon6:c.A545T:p.K182M	.	.	288	1233	1	0	0	1	0.000405351	.	.	2394326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.000	D	1.000	D	3.095	M	-1.08	T	0.554	D	0.680	D	0.387	4.389	23.2	5.32	2.006	2.894	14.912	0.727	0.513075140086	.	.	5.309e-05	0	0.0002	0	0	6.431e-05	0	0	3.23e-05	5	154602	rs756250744	1.726e-05	1.779e-05	1.919e-05	1.529e-05	0.0002	1.185e-05	1.001e-05	1.302e-05	1.112e-05	0	2.318e-05	0	0	0	0.0002	1.989e-05	1.668e-05	0	1.976e-05	1.971e-05	2.575e-05	1.349e-05	4.417e-05	5.25e-06	2.46e-06	1.173e-05	6.25e-06	0	0	0	0	0	0	0	4.417e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.883	0.63424	P	0.747	0.71530	P	0.000001	0.62929	D	0.095649	0.999834	0.81001	D	2.435	0.70606	M	-1.08	0.77078	T	-5.56	0.86296	D	0.521	0.58543	0.554	0.91282	D	0.680	0.88918	D	10	0.83813006	0.82967	D	0.513075	0.95331	D	0.727	0.90413	0.577	0.70217	0.659234351692	0.65638	0.6238651669202235	0.62319	0.0618784989107	0.06891	0.459413230419	0.33229	T	0.13362	0.46440	T	-0.0803413	0.39660	T	-0.168538	0.57577	T	0.830841660499573	0.48596	D	0.977802	0.93511	D	0.6564471	0.75708	0.65440506	0.79769	0.6564471	0.75709	0.65440506	0.79770	-12.439	0.86924	D	.	.	0.895	0.82415	P	.;.	.;.	4.345849	0.66707	25.0	0.99589553627434713	0.73513	0.97090	0.72631	D	AEFDBI	0.722228	0.67223	D	0.672943297571449	0.77860	6.756749	0.616705913995686	0.76154	6.438737	0.996116333268063	0.34533	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	2.988000	0.49074	1.354000	0.25830	-0.196000	0.09079	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:0.0:1.0	14.912	0.70411	873	0.30802	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	954.98	36	chr16	88865043	.	T	A	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.343e+00;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-1.136e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/1:28,38:66:99:969,0,709	20	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:69,19:88:23:23,0,1645	5	0	12	4
chr17	3127453	3127453	G	T	exonic	OR1G1	.	nonsynonymous SNV	OR1G1:NM_003555:exon1:c.C99A:p.F33L,	.	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.65	N	7.46	T	-0.968	T	0.001	T	0.062	-0.824	0.614	2.33	0.469	-0.199	5.215	0.027	0.000643907735344	0.0015	0.000599042	0.0015	9.612e-05	0.0006	0	0	0.0026	0.0033	0.0002	0.0015071	233	154602	rs149048749	0.0014	0.0014	0.0014	0.0014	0.0057	0.0014	0.0013	0.0042	0.0037	0.0002	0.0011	0.0268	0	1.872e-05	0.0057	0.0009	0.0034	0.0004	0.0013	0.0013	0.0013	0.0013	0.0024	0.0012	0.0011	0.0018	0.0016	2.407e-05	0	0.0024	0.0236	0	0	0.0170	0.0011	0.0014	0.0002	0.412	0.10083	T	0.389	0.15554	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999993	0.08975	N	-0.76	0.01693	N	7.46	0.00389	T	-0.41	0.14000	N	0.02	0.00308	-0.9681	0.37592	T	0.001	0.00188	T	9	0.004532248	0.00094	T	6.44E-4	0.00334	T	0.027	0.05988	0.324	0.30549	0.17258766438	0.16869	0.03508303231458617	0.03455	0.0450412281003	0.04875	0.25627040863	0.04456	T	0.004133	0.03542	T	-0.736586	0.00022	T	-0.866209	0.00779	T	0.00539254791341153	0.00058	T	0.248875	0.03711	T	0.053721935	0.10207	0.047158495	0.06733	0.053721935	0.10207	0.047158495	0.06733	-3.342	0.14285	T	.	.	0.210	0.43748	B	.	.	0.815004	0.11860	8.427	0.6147284624252809	0.06718	0.07841	0.13834	N	AEFBI	0.048415	0.08258	N	-1.12487411023511	0.06203	0.2849248	-1.04254342157318	0.08863	0.4378935	3.36172310910447E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.4	2.33	0.27981	-1.080000	0.03517	-2.425000	0.03770	-0.428000	0.05209	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.1906:0.1794:0.6301:0.0	5.215	0.14658	721	0.55360	.	.	.	.	.	.	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	0.02381	1067.98	34	chr17	3127453	.	G	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.412e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.046;SOR=0.772	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1082,0,1130	20	0	1	0
chr17	3580491	3580491	T	C	exonic	TRPV1	.	nonsynonymous SNV	TRPV1:NM_080706:exon9:c.A1513G:p.T505A	.	.	429	1071	21	1	0	23	0.0106236	.	.	704101	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.004	B	0.012	B	0.057	N	0.688	N	0.315	N	-3.24	D	-0.643	T	0.379	T	0.379	1.325	10.35	-3.17	-0.873	0.431	0.812	0.363	0.00985268792425	0.0038	0.00239617	0.0047	0.0012	0.0005	0	0.0009	0.0059	0.0089	0.0085	0.0044372	686	154602	rs17633288	0.0041	0.0041	0.0040	0.0043	0.0120	0.0041	0.0040	0.0097	0.0089	0.0006	0.0012	0.0015	0	0.0011	0.0120	0.0043	0.0040	0.0087	0.0029	0.0030	0.0031	0.0028	0.0054	0.0027	0.0026	0.0043	0.0041	0.0009	0	0.0027	0.0032	0	0.0007	0.0068	0.0047	0.0009	0.0054	0.412	0.11478	T	0.358	0.17640	T	0.0	0.09854	B	0.003	0.08700	B	0.057080	0.22509	N	0.521439	0.794941	0.30220	N	0.18	0.09070	N	-3.24	0.93474	D	-0.67	0.25118	N	0.098	0.15609	-0.6431	0.63013	T	0.379	0.73625	T	10	0.009269506	0.00209	T	0.009853	0.25675	T	0.363	0.68319	.	.	0.110078149338	0.10416	0.2848063240335977	0.28393	0.0628215532362	0.06995	0.304477274418	0.11072	T	0.678456	0.90532	D	-0.279384	0.10733	T	-0.168684	0.57564	T	0.00256110298506141	0.00027	T	0.538946	0.18512	T	0.023225682	0.01044	0.023724893	0.00386	0.023225682	0.01044	0.023724893	0.00386	-6.518	0.50425	T	.	.	0.069	0.03625	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.897280	0.12713	9.231	0.71797208862771922	0.09751	0.86742	0.46088	D	AEFBI	0.142785	0.26532	N	-1.08010813166704	0.07010	0.3244003	-0.962674042091629	0.10631	0.536613	2.73239071588903E-5	0.03498	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.55	-3.17	0.04882	0.427000	0.21098	1.591000	0.27530	-0.952000	0.02027	0.999000	0.42656	1.000000	0.68203	0.511000	0.29267	0.2581:0.2889:0.1191:0.3339	0.812	0.01025	661	0.61838	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2236.11	33	chr17	3580491	.	T	C	2236.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.604;DP=902;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.330;SOR=0.704	GT:AD:DP:GQ:PL	0/1:65,44:109:99:1004,0,1683	19	0	2	0
chr17	3688065	3688065	G	A	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon8:c.C856T:p.R286C	.	.	407	1102	13	0	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.53	H	2.52	T	-0.726	T	0.147	T	0.988	4.678	25.8	5.11	2.549	6.141	12.947	0.384	.	0.0011	0.00159744	0.0028	0.0011	0.0007	0	0.0018	0.0020	0.0035	0.0101	0.0017076	264	154602	rs146166049	0.0015	0.0015	0.0012	0.0017	0.0089	0.0014	0.0014	0.0083	0.0081	0.0003	0.0001	0.0097	0	0.0007	0.0028	0.0009	0.0021	0.0089	0.0011	0.0012	0.0010	0.0014	0.0065	0.0010	0.0010	0.0047	0.0041	0.0006	0.0363	0.0002	0.0069	0	0	0.0034	0.0007	0.0029	0.0065	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	3.62	0.93917	H	2.52	0.14160	T	-7.64	0.96191	D	0.966	0.97643	-0.7256	0.59184	T	0.147	0.47255	T	10	0.051166207	0.04956	T	.	.	.	0.613	0.84879	.	.	0.632280709065	0.62926	0.7920684377447199	0.79158	0.711518779709	0.61734	0.557567834854	0.46924	T	0.306456	0.67866	T	-0.0841587	0.39037	T	0.111885	0.77698	D	0.194286555534692	0.20094	T	0.989301	0.96450	D	0.8894982	0.90464	0.6084017	0.77227	0.8894982	0.90465	0.6084017	0.77228	-10.728	0.78145	D	.	.	0.946	0.89449	P	.;.;.;.;.;.	.;.;.;.;.;.	5.029618	0.83645	28.1	0.9993925872729118	0.99734	0.94299	0.60725	D	AEFDGBCI	0.885052	0.81524	D	0.882374075683285	0.90870	10.60467	0.794715931242121	0.89424	9.968994	0.997540685214884	0.35740	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.620976	0.48614	0	.	.	5.11	5.11	0.69188	4.980000	0.63533	11.793000	0.96431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:0.8381:0.1619	12.947	0.57776	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2168.11	39	chr17	3688065	.	G	A	2168.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=948;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=1.72;SOR=0.665	GT:AD:DP:GQ:PL	0/1:60,43:103:99:952,0,1294	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,98,57:155:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:5634,1709,1867,3143,0,2817:4933876	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,98,0:155:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3925,0,158,3629,268,3709:4933876	0	10	6	1
chr17	5141454	5141454	G	A	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon15:c.G1528A:p.E510K	.	.	470	1049	3	0	0	3	0.00142789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.943	P	0.424	B	0.000	D	1.000	D	0.695	N	2.86	T	-1.083	T	0.030	T	0.465	2.984	15.95	2.63	1.470	9.445	11.015	0.260	.	.	0.00678914	0.0052	9.639e-05	0.0003	0	0	1.502e-05	0	0.0377	0.0043984	680	154602	rs200519817	0.0022	0.0023	0.0012	0.0033	0.0362	0.0021	0.0021	0.0351	0.0347	6.003e-05	4.534e-05	0	0	0	0.0021	1.621e-05	0.0022	0.0362	0.0010	0.0010	0.0004	0.0016	0.0315	0.0009	0.0008	0.0275	0.0259	7.221e-05	0	0	0	0	0	0	1.471e-05	0	0.0315	0.031	0.45039	D	0.076	0.42614	T	0.943	0.53072	P	0.424	0.45210	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	2.86	0.10482	T	-2.07	0.47344	N	0.769	0.76666	-1.0831	0.06758	T	0.030	0.13111	T	10	0.0073063076	0.00166	T	.	.	.	0.260	0.57221	.	.	0.374434639691	0.37057	0.6437212910080405	0.64307	0.322300995781	0.34422	0.877428650856	0.93613	D	0.039165	0.25095	T	-0.45183	0.01102	T	-0.396732	0.33764	T	0.115543554012207	0.13989	T	0.988201	0.95985	D	0.2733315	0.50401	0.2155957	0.46155	0.2733315	0.50401	0.2155957	0.46154	-10.463	0.76634	D	.	.	0.118	0.29806	B	.;.	.;.	4.575809	0.72242	25.8	0.99829518538913098	0.91112	0.97334	0.74095	D	AEFI	0.710640	0.66434	D	0.0792930574085847	0.45498	2.805265	0.0452556945478881	0.41843	2.520651	0.472504257494886	0.20719	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	2.63	2.63	0.30420	9.629000	0.97813	11.650000	0.93875	0.320000	0.19365	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	11.015	0.46901	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	633.98	35	chr17	5141454	.	G	A	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=0.722;SOR=0.709	GT:AD:DP:GQ:PL	0/1:35,26:61:99:648,0,960	20	0	1	0
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q	VLCAD deficiency, Autosomal recessive	YES	0	1484	36	2	0	40	0.0132979	.	.	192609	not_specified|not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.035	B	0.002	B	0.276	N	0.995	N	0.69	N	-1.15	T	-0.931	T	0.224	T	0.659	1.518	11.03	0.885	0.335	-0.016	8.384	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1922.11	39	chr17	7224973	.	G	A	1922.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.677;DP=904;ExcessHet=0.1072;FS=13.536;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.995;SOR=0.927	GT:AD:DP:GQ:PL	0/1:43,40:83:99:970,0,989	19	0	2	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,36,0,2,0,0:38:29:1655,110,0,1604,111,1573,1464,29,1443,1404,1604,111,1573,1443,1573,1604,111,1573,1443,1573,1573	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,36,0,2,0,0:38:29:1655,110,0,1604,111,1573,1464,29,1443,1404,1604,111,1573,1443,1573,1604,111,1573,1443,1573,1573	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,36,0,2,0,0:38:29:1655,110,0,1604,111,1573,1464,29,1443,1404,1604,111,1573,1443,1573,1604,111,1573,1443,1573,1573	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,36,0,2,0,0:38:29:1655,110,0,1604,111,1573,1464,29,1443,1404,1604,111,1573,1443,1573,1604,111,1573,1443,1573,1573	0	14	0	0
chr17	9860068	9860068	C	T	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon7:c.C892T:p.R298W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.885	P	0.432	B	0.066	N	1.000	N	2.83	M	0.96	T	-0.931	T	0.123	T	0.507	0.534	6.891	0.67	-0.026	-0.354	1.651	0.107	0.0264406488836	.	.	5.493e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs766910205	5.896e-05	6.02e-05	5.728e-05	6.065e-05	0.0002	4.887e-05	4.506e-05	5.605e-05	5.117e-05	0	2.258e-05	3.838e-05	2.527e-05	7.508e-05	0.0002	6.844e-05	3.318e-05	0	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0.0002	0	0	2.94e-05	0	0	0.043	0.41364	D	0.022	0.92824	D	0.885	0.48692	P	0.432	0.45448	B	0.066475	0.21809	N	0.238863	0.999999	0.08975	N	3.065	0.87014	M	0.96	0.69536	T	-4.34	0.76822	D	0.276	0.32259	-0.9313	0.43948	T	0.123	0.42631	T	10	0.25310755	0.49728	T	0.026441	0.49346	D	0.107	0.30369	.	.	0.865506261627	0.86420	0.5728466928846966	0.57212	0.348214224296	0.36698	0.348063290119	0.17636	T	0.268958	0.64111	T	-0.141163	0.29705	T	-0.28107	0.46695	T	0.55628228187561	0.34714	D	0.532847	0.67793	T	0.12242722	0.28769	0.09458607	0.22395	0.12242722	0.28768	0.09458607	0.22394	-7.011	0.54114	T	.	.	0.101	0.23255	B	.;.;.	.;.;.	3.158166	0.42778	21.6	0.81329924110059593	0.13632	0.04000	0.09424	N	AEFBI	0.167525	0.29420	N	-0.307531332500517	0.28862	1.595499	-0.455562623041504	0.23391	1.275367	1.38695236418088E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	0.67	0.17092	-0.298000	0.08302	-0.550000	0.08534	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.422000	0.27272	0.1389:0.4599:0.135:0.2663	1.651	0.02605	940	0.13648	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	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	0.02381	561.98	38	chr17	9860068	.	C	T	561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.352;DP=807;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-1.351e+00;SOR=0.978	GT:AD:DP:GQ:PL	0/1:35,24:59:99:576,0,872	20	0	1	0
chr17	10496414	10496414	C	A	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon34:c.G4792T:p.V1598L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.004	B	0.002	U	1.000	D	-0.105	N	-0.97	T	-0.866	T	0.173	T	0.21	1.857	12.17	5.52	2.734	2.346	15.294	0.141	0.0096086716284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.997	0.02325	T	0.0	0.02946	B	0.004	0.10090	B	0.001530	0.38731	U	0.000000	0.993686	0.42019	D	0.19	0.09125	N	-0.97	0.75670	T	-1.04	0.27259	N	0.312	0.35194	-0.8661	0.50820	T	0.173	0.51627	T	10	0.20825344	0.37148	T	0.009609	0.25130	T	0.141	0.37795	0.608	0.74063	0.609218927916	0.60608	0.20295589470920436	0.20212	0.0943879978921	0.10659	0.454253554344	0.32526	T	0.260345	0.63171	T	-0.111066	0.34591	T	-0.397315	0.33696	T	0.298752695322037	0.24952	T	0.894511	0.63379	D	0.14185065	0.32668	0.15165259	0.35713	0.14185065	0.32667	0.15165259	0.35712	-7.273	0.56003	T	.	.	0.266	0.50007	B	.	.	2.881732	0.38135	20.7	0.98136734467870401	0.38563	0.96829	0.71164	D	AEFDGBI	0.374059	0.45910	N	-0.288561915096473	0.29589	1.642224	-0.0320121931406997	0.38276	2.252882	0.214712847811345	0.18283	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	2.373000	0.43920	4.660000	0.44233	0.511000	0.23309	0.980000	0.35271	1.000000	0.68203	0.959000	0.51448	0.0:0.8604:0.1396:0.0	15.294	0.73590	169	0.93437	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2970.98	39	chr17	10496414	.	C	A	2970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.63;DP=1018;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.84;MQRankSum=0.400;QD=12.13;ReadPosRankSum=-1.323e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/1:135,110:245:99:2985,0,3397	20	0	1	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	0/1:2,3,0:5:75:120,0,75,126,84,210	5	7	8	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,62,0:173:99:.:.:1422,0,3566,1844,3866,6198	12	0	7	0
chr17	19556021	19556021	G	A	exonic	SLC47A1	.	nonsynonymous SNV	SLC47A1:NM_018242:exon10:c.G880A:p.A294T,	.	.	425	1084	13	0	0	13	0.00596057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.924	D	0.000	D	1.000	D	2.39	M	0.69	T	-0.421	T	0.309	T	0.874	5.169	32	5.54	2.602	4.953	18.482	0.391	0.00982123049051	.	0.000399361	0.0004	0	0.0003	0.0001	0	5.996e-05	0	0.0025	0.0003363	52	154602	rs563267554	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	5.974e-05	0.0002	0	2.519e-05	0	0.0021	3.417e-05	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0002	0	0	0	0	8.821e-05	0.0005	0.0033	0.043	0.72154	D	0.005	0.79402	D	0.998	0.73220	D	0.899	0.65913	P	0.000000	0.84330	D	0.047729	0.999757	0.81001	D	2.325	0.66631	M	0.69	0.51714	T	-3.71	0.71397	D	0.799	0.79503	-0.4206	0.71373	T	0.309	0.67922	T	10	0.03247279	0.01400	T	0.009821	0.25608	T	0.391	0.70684	.	.	0.503744809241	0.50012	0.34828586287911073	0.34742	0.676230404005	0.59750	0.470068246126	0.34689	T	0.042113	0.72332	T	-0.0938739	0.37437	T	0.0871427	0.76054	D	0.116827600588266	0.14117	T	0.915108	0.70943	D	0.64562225	0.75130	0.73879474	0.84561	0.64562225	0.75131	0.73879474	0.84562	-8.561	0.64832	D	.	.	0.225	0.45726	B	.;.;.;.	.;.;.;.	4.651044	0.74135	26.1	0.99935201548179953	0.99579	0.96624	0.70078	D	AEFBI	0.838485	0.75600	D	0.732492398779477	0.81761	7.598788	0.722333312599581	0.84074	8.191972	0.999706608641801	0.41986	0.638212	0.43195	0	0.610034	0.51514	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.54	5.54	0.82907	4.255000	0.58595	6.320000	0.55443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	18.482	0.90766	617	0.66297	.;.;.;.	.	.	.	.	.	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	0.07143	3128.66	43	chr17	19556021	.	G	A	3128.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.566;DP=889;ExcessHet=0.0000;FS=1.484;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=20.32;ReadPosRankSum=-1.338e+00;SOR=0.916	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1903,183,0	19	1	1	0
chr17	28584197	28584197	G	T	exonic	SPAG5	.	nonsynonymous SNV	SPAG5:NM_006461:exon13:c.C2365A:p.Q789K,	.	.	415	1093	14	0	0	14	0.00636364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.023	B	0.011	B	0.108	N	0.996	N	0.625	N	.	.	-1.056	T	0.046	T	0.286	3.046	16.16	2.84	0.823	1.799	7.785	0.010	0.00223143982755	0.0007	0.000798722	0.0009	9.61e-05	0.0016	0	0	0.0012	0.0033	0.0004	0.0008667	134	154602	rs150901596	0.0007	0.0007	0.0007	0.0007	0.0121	0.0007	0.0007	0.0099	0.0090	0.0002	0.0016	0.0097	0	1.881e-05	0.0121	0.0004	0.0016	0.0009	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0019	0.0017	4.809e-05	0	0.0025	0.0095	0	0	0.0170	0.0004	0.0019	0.0004	0.098	0.30800	T	0.321	0.19073	T	0.023	0.18885	B	0.011	0.15521	B	0.108278	0.19534	N	0.481200	0.995965	0.23152	N	0.625	0.15840	N	.	.	.	-0.61	0.21003	N	0.293	0.33140	-1.0558	0.12829	T	0.046	0.19760	T	9	0.003987521	0.00077	T	0.002231	0.04233	T	0.010	0.01040	.	.	0.0920862733494	0.08535	0.27969944607115554	0.27882	0.536506915969	0.50979	0.340952396393	0.16581	T	0.155677	0.49752	T	-0.418143	0.01758	T	-0.392424	0.34269	T	0.0160841023924126	0.00386	T	0.59944	0.22338	T	0.06921384	0.15145	0.077029996	0.17119	0.06921384	0.15145	0.077029996	0.17119	-4.169	0.26301	T	.	.	0.098	0.16319	B	.;.	.;.	1.650894	0.21061	15.03	0.98299253940131293	0.40030	0.79716	0.39556	D	AEFDBCI	0.190058	0.31730	N	-0.296573518047313	0.29281	1.62237	-0.117355575541646	0.34691	1.998334	0.00647168385539613	0.11227	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	2.84	0.32241	1.957000	0.40017	5.006000	0.46633	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0777:0.0:0.6633:0.259	7.785	0.28249	245	0.90404	.;.	.	.	.	.	.	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	0.02381	1286.98	38	chr17	28584197	.	G	T	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.323e+00;DP=853;ExcessHet=0.0000;FS=4.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-2.169e+00;SOR=0.423	GT:AD:DP:GQ:PL	0/1:86,54:140:99:1301,0,2444	20	0	1	0
chr17	28959735	28959735	G	C	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon8:c.C1734G:p.H578Q	.	.	423	1082	16	1	0	18	0.00824931	.	.	755729	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.524	P	0.183	B	0.176	N	1.000	D	-0.345	N	1.91	T	-0.966	T	0.019	T	0.138	0.893	8.629	-9.4	-1.937	-4.510	11.010	0.038	0.00535240342981	7.9e-05	0.000199681	0.0008	0	0.0005	0	0	0.0004	0.0023	0.0047	0.0006921	107	154602	rs201821795	0.0005	0.0005	0.0004	0.0006	0.0048	0.0004	0.0004	0.0034	0.0029	8.985e-05	0.0007	0	0	0	0.0048	0.0003	0.0005	0.0034	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.217e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0009	0.0023	0.518	0.07354	T	0.629	0.08273	T	0.524	0.37583	P	0.183	0.35961	B	0.175757	0.17243	N	0.588327	0.999804	0.49283	D	0.255	0.09829	N	1.91	0.23283	T	0.24	0.04533	N	0.072	0.08506	-0.9655	0.38112	T	0.019	0.07846	T	10	0.0071115494	0.00162	T	0.005352	0.13710	T	0.038	0.09825	0.532	0.64002	0.0401082797425	0.02173	0.20418143415023202	0.20335	0.274165390255	0.29914	0.360978484154	0.19529	T	0.002613	0.12058	T	-0.628948	0.00097	T	-0.678638	0.07067	T	0.0276675058757247	0.01639	T	0.472753	0.23323	T	0.04198423	0.06285	0.046438117	0.06473	0.047533203	0.08140	0.042462602	0.05062	-0.576	0.00632	T	.	.	0.072	0.07745	B	.;.;.;.;.	.;.;.;.;.	-0.924221	0.00886	0.032	0.8419897779333122	0.15153	0.03239	0.08258	N	AEFBI	0.162620	0.28882	N	-1.49319807342195	0.01898	0.08326784	-1.53814632516367	0.02058	0.09412028	0.999994996588918	0.74766	0.706298	0.61202	0	0.514364	0.08380	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.17	-9.4	0.00521	-4.517000	0.00255	-6.420000	0.01403	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.629:0.0:0.2838:0.0872	11.010	0.46872	298	0.88068	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	544.98	48	chr17	28959735	.	G	C	544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=1109;ExcessHet=0.0000;FS=4.418;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.50;ReadPosRankSum=0.157;SOR=1.283	GT:AD:DP:GQ:PL	0/1:72,27:99:99:559,0,1759	20	0	1	0
chr17	30080773	30080773	G	A	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_198529:exon17:c.G3218A:p.G1073E,	.	.	422	1098	2	0	0	2	0.000909918	.	.	3248507	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	1.0	D	1.0	D	0.003	N	1.000	D	1.91	M	0.64	T	-0.646	T	0.261	T	0.525	2.140	13.11	5.29	2.476	4.265	13.336	0.228	0.0270767753221	.	.	0.0003	0	0	0.0004	0	8.73e-05	0	0.0012	0.0001229	19	154602	rs755482461	9.005e-05	9.029e-05	6.695e-05	0.0001	0.0010	7.726e-05	7.268e-05	0.0008	0.0008	0	0	0	0.0007	0	0.0002	7.217e-06	0.0001	0.0010	2.628e-05	2.625e-05	0	5.376e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0.0002	0	0	0	0	0.0006	0.056	0.38185	T	0.016	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002944	0.35672	N	0.123818	0.736452	0.81001	D	2.275	0.64647	M	0.64	0.52867	T	-5.66	0.87063	D	0.562	0.58629	-0.6460	0.62887	T	0.261	0.63230	T	10	0.1966325	0.35563	T	0.027077	0.49929	D	0.228	0.52768	.	.	0.649436034143	0.64652	0.6263177881581388	0.62564	0.548320089044	0.51777	0.470202624798	0.34708	T	0.165102	0.51082	T	-0.311637	0.07605	T	-0.279613	0.46842	T	0.467998445034027	0.31457	T	0.713629	0.32527	T	0.34446344	0.56632	0.52000386	0.72268	0.34446344	0.56632	0.52000386	0.72268	-9.73	0.72279	D	.	.	0.370	0.57835	A	.;.	.;.	4.379004	0.67488	25.1	0.9718952649788839	0.32758	0.91646	0.53964	D	AEFGBI	0.731048	0.67825	D	0.61873467649897	0.74359	6.119518	0.597861731300604	0.74785	6.196728	0.052114862922255	0.14896	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.29	5.29	0.74430	4.361000	0.59235	11.625000	0.93653	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0784:0.0:0.9216:0.0	13.336	0.59958	813	0.42397	.;.	.	.	.	.	.	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	0.02381	583.98	27	chr17	30080773	.	G	A	583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=-3.950e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:18,21:39:99:598,0,410	20	0	1	0
chr17	30379096	30379096	C	T	exonic	CPD	.	nonsynonymous SNV	CPD:NM_001304:exon1:c.C116T:p.A39V,	.	.	410	1107	5	0	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.998	D	0.691	P	0.324	N	1.000	D	0.695	N	2.04	T	-1.131	T	0.040	T	0.262	3.838	19.49	4.47	2.295	2.890	13.957	0.068	.	.	0.00259585	0.0043	0	0	0.0564	0.0116	0.0014	0.0054	0.0016	0.0014489	224	154602	rs184488188	0.0014	0.0014	0.0014	0.0013	0.0373	0.0013	0.0013	0.0356	0.0349	6.707e-05	0.0001	0.0013	0.0373	0.0027	0.0007	0.0003	0.0014	0.0017	0.0011	0.0012	0.0009	0.0014	0.0214	0.0010	0.0010	0.0182	0.0169	2.405e-05	0	0.0001	0.0014	0.0214	0.0025	0	0.0003	0	0.0017	0.177	0.22224	T	0.068	0.44106	T	0.998	0.73220	D	0.691	0.53831	P	0.324097	0.14222	N	0.615860	0.968249	0.38647	D	0.805	0.20218	L	2.04	0.20808	T	-0.48	0.15379	N	0.238	0.26837	-1.1305	0.01758	T	0.040	0.17191	T	10	0.0048922	0.00104	T	.	.	.	0.068	0.19811	.	.	0.371344866733	0.36741	0.5501959026049646	0.54945	1.07151977504	0.76828	0.818196117878	0.84751	D	0.001483	0.00934	T	-0.527631	0.00397	T	-0.515086	0.20794	T	0.0380142772088592	0.03334	T	0.673133	0.28166	T	0.090256564	0.21114	0.085578136	0.19768	0.090256564	0.21114	0.085578136	0.19767	-4.661	0.32929	T	.	.	0.163	0.36053	B	.	.	2.677540	0.34918	19.76	0.99801906707219179	0.88639	0.79358	0.39309	D	ALL	0.372464	0.45810	N	0.277139513957658	0.54991	3.663664	0.299533258462946	0.55513	3.714203	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	4.47	4.47	0.53770	0.582000	0.23535	5.478000	0.48715	0.520000	0.23804	0.137000	0.23458	1.000000	0.68203	0.505000	0.29129	0.0:1.0:0.0:0.0	13.957	0.63666	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	441.98	34	chr17	30379096	.	C	T	441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=-1.777e+00;SOR=0.638	GT:AD:DP:GQ:PL	0/1:26,21:47:99:456,0,626	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:30,30:62:99:327,0,358	0	0	21	0
chr17	39079120	39079120	T	C	exonic	PLXDC1	.	nonsynonymous SNV	PLXDC1:NM_020405:exon10:c.A1034G:p.Y345C,	.	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.89	P	0.004	N	1.000	D	1.67	L	2.3	T	-1.138	T	0.080	T	0.772	0.728	7.868	5.32	2.235	2.869	11.583	0.123	0.0414197814781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.35349	T	0.175	0.30534	T	0.988	0.62325	D	0.89	0.63157	P	0.003592	0.34740	N	0.285873	0.868063	0.81001	D	2.32	0.66415	M	2.3	0.76300	T	-2.78	0.58896	D	0.795	0.79118	-1.1377	0.01446	T	0.080	0.31765	T	10	0.33349544	0.50538	T	0.04142	0.59915	D	0.123	0.34020	0.381	0.39807	0.614559674938	0.61144	0.6966192495981544	0.69602	0.921947868155	0.71491	0.427929610014	0.28926	T	0.098186	0.40175	T	0.182915	0.72311	D	0.0249682	0.71951	D	0.95773833990097	0.65087	D	0.959004	0.86259	D	0.11836648	0.27888	0.12772816	0.30742	0.11836648	0.27888	0.12772816	0.30741	-10.959	0.79433	D	.	.	0.268	0.50222	B	.;.;.	.;.;.	4.428353	0.68647	25.3	0.94791488526416079	0.25533	0.85223	0.44337	D	AEFBI	0.417910	0.48576	N	0.421707981337897	0.62617	4.480584	0.40649709873597	0.61970	4.404767	0.999040301331835	0.38290	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.32	5.32	0.75377	4.595000	0.60757	6.051000	0.53092	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.240000	0.23001	0.0:0.0:0.0:1.0	11.583	0.50160	565	0.70868	.;.;.	.	.	.	.	.	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	0.02381	759.98	33	chr17	39079120	.	T	C	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.707;DP=738;ExcessHet=0.0000;FS=2.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=1.09;SOR=0.334	GT:AD:DP:GQ:PL	0/1:24,27:51:99:774,0,667	20	0	1	0
chr17	41117935	41118039	AGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACAT	-	exonic	KRTAP4-11	.	nonframeshift deletion	KRTAP4-11:NM_033059:exon1:c.277_381del:p.M93_S127del,	.	.	389	1123	10	0	0	10	0.00443262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0082	0.0035	0.0072	0.0006	0.0022	0.0036	0.0014	.	.	.	.	0.0011	0.0035	0.0010	0.0011	0.0055	0.0010	0.0010	0.0049	0.0047	0.0049	0.0037	0.0012	0.0055	0.0018	0.0013	0.0006	0.0018	0.0016	0.0043	0.0060	0.0041	0.0046	0.0099	0.0041	0.0039	0.0091	0.0088	0.0099	0.0011	0.0063	0.0017	0.0091	0.0024	0.0035	0.0010	0.0039	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	78.94	108	chr17	41117934	.	CAGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACAT	C	78.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=2693;ExcessHet=0.0000;FS=15.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.49;MQRankSum=-8.908e+00;QD=0.43;ReadPosRankSum=-6.573e+00;SOR=1.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,31:184:93:0|1:41117934_CAGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACAT_C:93,0,6234:41117934	20	0	1	0
chr17	41117942	41117942	C	T	exonic	KRTAP4-11	.	nonsynonymous SNV	KRTAP4-11:NM_033059:exon1:c.G374A:p.C125Y,	.	.	387	1087	36	2	10	50	0.0180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.004	U	0.740	N	3.915	H	3.57	T	-0.848	T	0.079	T	0.461	2.783	15.27	3.22	1.324	0.317	11.882	0.084	.	.	0.00339457	0.0031	0.0005	0.0028	0.0001	0	0.0019	0.0050	0.0115	0.0023997	371	154602	rs201517671	0.0021	0.0021	0.0018	0.0025	0.0224	0.0021	0.0020	0.0192	0.0180	0.0005	0.0019	0.0041	2.657e-05	9.952e-05	0.0224	0.0014	0.0031	0.0131	0.0017	0.0017	0.0014	0.0019	0.0113	0.0015	0.0014	0.0089	0.0081	0.0004	0	0.0027	0.0029	0.0002	0	0.0103	0.0018	0.0024	0.0113	0.007	0.59928	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.003702	0.34585	U	0.000000	0.739949	0.29745	N	3.78	0.95251	H	3.57	0.04645	T	-8.26	0.96915	D	0.144	0.14480	-0.8478	0.52120	T	0.079	0.31375	T	10	0.0043307543	0.00088	T	.	.	.	0.084	0.24469	.	.	0.497280371566	0.49363	0.15703317164027314	0.15624	0.00790037239625	0.00715	0.278572291136	0.07294	T	0.069471	0.33718	T	-0.483592	0.00705	T	-0.459461	0.26657	T	0.150048717089655	0.17108	T	0.462854	0.13445	T	0.4794338	0.65866	0.33817667	0.59598	0.4794338	0.65866	0.33817667	0.59598	-7.727	0.59195	D	.	.	0.205	0.43130	B	.	.	1.665534	0.21236	15.11	0.79300385026463116	0.12679	0.15644	0.19012	N	AEFBI	0.104543	0.20914	N	0.188050669921843	0.50624	3.250729	-0.103313115415274	0.35257	2.037601	0.883224234455235	0.25669	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.22	3.22	0.36041	-0.441000	0.06951	-0.327000	0.09919	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.692000	0.33898	0.0:1.0:0.0:0.0	11.882	0.51859	269	0.89438	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	931.99	108	chr17	41117942	.	C	T	931.99	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.509e+00;DP=2629;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.88;MQRankSum=-3.265e+00;QD=10.84;ReadPosRankSum=-3.476e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,42:114:99:1|0:41117934_CAGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACAT_C:1244,0,1421:41117934	19	0	1	1
chr17	41167871	41167871	C	T	exonic	KRTAP4-3	.	nonsynonymous SNV	KRTAP4-3:NM_033187:exon1:c.G302A:p.R101H,	.	.	448	1012	56	6	0	68	0.0325048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.518	P	0.076	B	0.012	U	1.000	N	2.615	M	4.87	T	-0.971	T	0.006	T	0.393	1.992	12.62	1.33	0.088	0.240	5.927	0.108	.	0.0071	0.00698882	0.0079	0.0018	0.0033	0.0004	0.0024	0.0084	0.0076	0.0179	0.0064423	996	154602	rs143200002	0.0038	0.0037	0.0033	0.0042	0.0251	0.0037	0.0036	0.0215	0.0201	0.0012	0.0020	0.0021	7.623e-05	0.0021	0.0251	0.0033	0.0047	0.0129	0.0065	0.0065	0.0066	0.0063	0.0189	0.0061	0.0060	0.0157	0.0146	0.0018	0.0022	0.0053	0.0029	0.0004	0.0016	0.0310	0.0098	0.0114	0.0189	0.061	0.37118	T	0.039	0.51112	D	0.518	0.37483	P	0.076	0.28435	B	0.011693	0.29437	U	0.000000	1	0.08975	N	3.58	0.93551	H	4.87	0.01449	T	-3.2	0.64710	D	0.06	0.03175	-0.9705	0.37094	T	0.006	0.01907	T	10	0.0060154498	0.00135	T	.	.	.	0.108	0.30607	.	.	0.27479166964	0.27093	0.05665735460135568	0.05606	0.0258765225282	0.02640	0.1833358109	0.00128	T	0.034654	0.23405	T	-0.48063	0.00733	T	-0.458182	0.26797	T	0.0535494363800892	0.06113	T	0.114489	0.00870	T	0.08230956	0.18956	0.1222704	0.29494	0.08230956	0.18956	0.1222704	0.29493	-8.921	0.67187	D	.	.	0.218	0.44758	B	.	.	1.382789	0.17947	13.46	0.92627092135174738	0.22097	0.03687	0.08959	N	AEFDBI	0.038029	0.05321	N	-0.509054315330663	0.21786	1.158767	-0.647242879890709	0.18287	0.9762053	1.44131263787327E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	4.55	1.33	0.20958	-2.123000	0.01406	.	.	0.575000	0.29119	0.000000	0.06391	.	.	0.913000	0.44837	0.1513:0.674:0.0:0.1747	5.927	0.18355	266	0.89551	.	.	.	KRT31	Brain_Cerebellar_Hemisphere	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2843.11	39	chr17	41167871	.	C	T	2843.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.696;DP=919;ExcessHet=0.1072;FS=1.573;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.44;MQRankSum=-8.670e-01;QD=12.10;ReadPosRankSum=0.634;SOR=0.718	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1065,0,1256	19	0	2	0
chr17	41249914	41249914	C	T	exonic	KRTAP9-4	.	nonsynonymous SNV	KRTAP9-4:NM_033191:exon1:c.C194T:p.T65I,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.204	B	0.151	B	.	.	1.000	N	0.805	L	5.33	T	-0.913	T	0.004	T	0.145	1.337	10.39	-1.07	-0.158	-0.857	5.975	0.014	0.00257700196541	0.0018	0.00199681	0.0010	0.0036	0.0002	0	0.0002	0.0013	0	0.0001	0.0002264	35	154602	rs146098518	0.0009	0.0009	0.0009	0.0009	0.0039	0.0009	0.0009	0.0033	0.0031	0.0039	0.0002	0.0012	5.051e-05	9.372e-05	0.0003	0.0010	0.0008	0.0001	0.0015	0.0018	0.0017	0.0013	0.0032	0.0013	0.0013	0.0027	0.0026	0.0032	0	0.0007	0.0012	0	0	0	0.0011	0.0014	0.0002	0.081	0.33418	T	0.045	0.49390	D	0.204	0.29802	B	0.151	0.34210	B	.	.	.	.	0.999983	0.18198	N	1.385	0.34509	L	5.33	0.01072	T	-3.75	0.71157	D	0.077	0.05162	-0.9127	0.46518	T	0.004	0.01159	T	9	0.009723157	0.00219	T	0.002577	0.05206	T	0.014	0.01968	.	.	0.180583059064	0.17676	0.06602581688881319	0.06541	0.0951501067872	0.10743	0.231563955545	0.02086	T	0.023442	0.17891	T	-0.636763	0.00087	T	-0.690178	0.06379	T	0.0174609152014572	0.00482	T	.	.	.	0.10372285	0.24517	0.11127964	0.26842	0.10372285	0.24517	0.11127964	0.26841	-5.952	0.45876	T	.	.	0.122	0.25495	B	.	.	0.833329	0.12048	8.603	0.86065850835861657	0.16291	0.03465	0.08618	N	AEFBI	0.023122	0.01246	N	-0.993808282805706	0.08735	0.4107244	-1.1158077932211	0.07398	0.3596876	1.86710188406934E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.6	-1.07	0.09459	-2.214000	0.01307	-9.340000	0.00834	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.0:0.5253:0.3521:0.1226	5.975	0.18608	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2621.98	204	chr17	41249914	.	C	T	2621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=5331;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.95;MQRankSum=-5.826e+00;QD=15.16;ReadPosRankSum=-3.240e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:81,92:173:99:2636,0,2274	20	0	1	0
chr17	41438514	41438514	C	T	exonic	KRT38	.	nonsynonymous SNV	KRT38:NM_006771:exon5:c.G997A:p.E333K,	.	.	394	1118	10	0	0	10	0.00445236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.777	N	3.535	H	-2.96	D	0.652	D	0.870	D	0.583	4.341	22.8	4.2	2.211	3.898	15.769	0.527	0.0345166622028	0.0067	0.00239617	0.0049	0.0012	0.0040	0	0.0009	0.0075	0	0.0015	0.0050258	777	154602	rs138667284	0.0076	0.0076	0.0078	0.0075	0.0089	0.0075	0.0075	0.0087	0.0087	0.0011	0.0048	0.0159	2.519e-05	0.0014	0.0023	0.0089	0.0072	0.0014	0.0049	0.0049	0.0051	0.0047	0.0076	0.0046	0.0045	0.0070	0.0068	0.0016	0	0.0054	0.0150	0	0.0009	0.0034	0.0076	0.0057	0.0012	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000139	0.49741	D	0.000000	0.777356	0.29371	N	3.44	0.92123	M	-2.96	0.91956	D	-3.91	0.73042	D	0.385	0.42639	0.652	0.92563	D	0.870	0.95674	D	10	0.011532187	0.00252	T	0.034517	0.55729	D	0.527	0.80007	.	.	0.942032936932	0.94142	0.526093314787973	0.52533	0.303656297673	0.32687	0.531210303307	0.43206	T	0.74107	0.92829	D	-0.153487	0.27767	T	0.0131477	0.71186	D	0.0415100839992481	0.03965	T	0.925307	0.72522	D	0.53877604	0.69328	0.60344845	0.76954	0.53877604	0.69329	0.60344845	0.76955	-9.026	0.67865	D	.	.	0.400	0.59589	A	.	.	4.197130	0.63305	24.6	0.99919124140073767	0.98654	0.95366	0.64440	D	AEFGBI	0.250362	0.37043	N	0.79476893908501	0.85775	8.678541	0.676644938869523	0.80607	7.336956	0.0034421990956818	0.10119	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.2	4.2	0.48814	4.963000	0.63403	2.828000	0.35004	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.998000	0.85391	0.0:1.0:0.0:0.0	15.769	0.77923	222	0.91398	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2125.98	155	chr17	41438514	.	C	T	2125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.396;DP=2843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;MQRankSum=-1.394e+00;QD=12.96;ReadPosRankSum=-9.000e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:83,81:164:99:2140,0,2160	20	0	1	0
chr17	41571748	41571748	C	T	exonic	KRT9	.	nonsynonymous SNV	KRT9:NM_000226:exon1:c.G245A:p.S82N,	Palmoplantar keratoderma, epidermolytic, Autosomal dominant	.	7	1509	5	1	0	7	0.00231405	.	.	328400	not_provided|Palmoplantar_keratoderma,_epidermolytic|KRT9-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.991	D	0.831	P	0.002	N	1.000	D	1.445	L	-1.57	D	0.071	D	0.559	D	0.195	2.701	14.99	4.79	2.196	1.142	12.765	0.248	0.280503643674	0.0029	0.000798722	0.0023	0.0006	0.0008	0	0.0043	0.0031	0	0.0020	0.0022639	350	154602	rs148867398	0.0035	0.0035	0.0035	0.0035	0.0040	0.0034	0.0034	0.0039	0.0039	0.0007	0.0011	0.0007	0	0.0021	0.0028	0.0040	0.0028	0.0024	0.0022	0.0022	0.0024	0.0020	0.0038	0.0020	0.0019	0.0035	0.0033	0.0005	0.0066	0.0012	0.0014	0	0.0016	0	0.0038	0.0014	0.0008	0.061	0.37118	T	0.015	0.61642	D	0.991	0.64070	D	0.831	0.59664	P	0.002025	0.37411	N	0.000000	0.999998	0.58761	D	1.04	0.26193	L	-1.57	0.81900	D	-0.87	0.23590	N	0.212	0.23632	0.071	0.83648	D	0.559	0.83952	D	10	0.009199381	0.00208	T	0.280504	0.90213	D	0.248	0.55615	.	.	0.880113497473	0.87893	0.6325393074210756	0.63187	0.0663092466209	0.07396	0.479322195053	0.35963	T	0.137205	0.47001	T	-0.400344	0.02303	T	-0.349632	0.39248	T	0.0158474127008183	0.00371	T	0.247375	0.03654	T	0.14363283	0.33004	0.13266133	0.31829	0.14363283	0.33003	0.13266133	0.31828	-6.368	0.49260	T	0.6889395831952064	0.76638	0.322	0.54682	B	.	.	1.422955	0.18399	13.72	0.97776958918132273	0.35906	0.25808	0.22809	N	AEFBCI	0.106951	0.21324	N	-0.0496030780030289	0.39619	2.339412	-0.200529834281827	0.31518	1.784456	0.0388712907827091	0.14368	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	0.948000	0.28694	2.441000	0.32772	0.547000	0.25779	0.001000	0.13787	0.018000	0.20648	0.117000	0.19042	0.1631:0.8369:0.0:0.0	12.765	0.56765	276	0.89131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	908.98	97	chr17	41571748	.	C	T	908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.790e-01;DP=1691;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.67;ReadPosRankSum=-5.510e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:54,40:94:99:923,0,1400	20	0	1	0
chr17	41811518	41811518	C	T	exonic	P3H4	.	nonsynonymous SNV	P3H4:NM_006455:exon1:c.G398A:p.R133Q,	.	.	89	1423	10	0	0	10	0.0035014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.991	D	0.662	P	0.000	D	0.948	N	1.79	L	-0.7	T	-0.786	T	0.234	T	0.288	3.694	18.76	3.41	1.048	1.389	7.848	0.277	0.900194473924	0.0041	0.00219649	0.0053	0.0019	0.0030	0	0.0035	0.0073	0.0041	0.0045	0.0042367	655	154602	rs200433757	0.0067	0.0066	0.0066	0.0067	0.0078	0.0065	0.0065	0.0076	0.0076	0.0015	0.0033	0.0013	0	0.0026	0.0023	0.0078	0.0047	0.0049	0.0050	0.0050	0.0049	0.0051	0.0081	0.0047	0.0046	0.0075	0.0073	0.0015	0.0363	0.0028	0.0017	0	0.0037	0	0.0081	0.0057	0.0037	0.099	0.30656	T	0.023	0.57104	D	0.991	0.64070	D	0.586	0.50343	P	0.000003	0.62929	D	0.056832	0.947752	0.26590	N	1.545	0.39105	L	-0.7	0.72785	T	-1.66	0.39692	N	0.218	0.24385	-0.7862	0.55950	T	0.234	0.60124	T	10	0.011135012	0.00245	T	0.900194	0.99248	D	0.277	0.59375	.	.	0.0762999501168	0.06990	0.39654065555026535	0.39569	0.855501403435	0.68735	0.796865165234	0.81485	T	0.038968	0.25026	T	-0.416183	0.01810	T	-0.365326	0.37434	T	0.0187566151484882	0.00587	T	0.840916	0.51656	T	0.09635647	0.22694	0.14154294	0.33703	0.09635647	0.22694	0.14154294	0.33702	-5.222	0.39165	T	.	.	0.113	0.22969	B	.;.	.;.	4.002391	0.58988	24.0	0.99821739916919339	0.90414	0.21155	0.21301	N	ALL	0.212340	0.33804	N	-0.233174938384371	0.31779	1.785467	-0.320889949082285	0.27424	1.521665	0.999999999235026	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.37	3.41	0.38145	1.537000	0.35689	0.878000	0.22371	-0.189000	0.09497	0.002000	0.15269	0.351000	0.24472	0.643000	0.32503	0.0:0.7428:0.164:0.0932	7.848	0.28602	554	0.71839	.;.	CNP	Breast_Mammary_Tissue	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	347.98	41	chr17	41811518	.	C	T	347.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.678;DP=740;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-2.910e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:16,14:30:99:362,0,386	20	0	1	0
chr17	45030174	45030174	G	A	exonic	DCAKD	.	nonsynonymous SNV	DCAKD:NM_001128631:exon4:c.C322T:p.R108C	.	.	437	1075	8	2	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.64	P	0.236	B	0.000	D	1.000	D	2.575	M	0.92	T	-0.848	T	0.145	T	0.849	3.464	17.74	5.53	2.598	6.421	14.321	0.300	0.144303585302	0.0013	0.00139776	0.0017	0.0009	0.0007	0	0.0002	0.0012	0	0.0064	0.0016494	255	154602	rs144472327	0.0022	0.0022	0.0021	0.0024	0.0061	0.0022	0.0021	0.0057	0.0055	0.0003	0.0003	3.826e-05	0.0001	0.0002	0.0016	0.0023	0.0017	0.0061	0.0013	0.0013	0.0014	0.0012	0.0075	0.0012	0.0011	0.0055	0.0049	0.0007	0	0.0004	0.0003	0.0014	0.0004	0.0034	0.0017	0.0009	0.0075	0.011	0.72154	D	0.004	0.74150	D	0.64	0.40395	P	0.236	0.38470	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.835	0.48228	L	0.92	0.46412	T	-5.05	0.82700	D	0.853	0.84922	-0.8481	0.52099	T	0.145	0.46786	T	10	0.009757966	0.00219	T	0.144304	0.82657	D	0.300	0.62068	.	.	0.652187244737	0.64929	.	.	1.0403727168	0.75771	0.474705576897	0.35329	T	0.204902	0.56381	T	-0.148394	0.28564	T	0.0166779	0.71415	D	0.0604275424180223	0.07235	T	0.948405	0.81587	D	0.36094448	0.57908	0.30571213	0.56597	0.36094448	0.57908	0.30571213	0.56596	-9.199	0.68968	D	.	.	0.264	0.50699	B	.;.;.;.;.;.	.;.;.;.;.;.	4.910698	0.80791	27.4	0.99902560252113937	0.97426	0.86181	0.45413	D	ALL	0.846020	0.76291	D	0.479380700895231	0.65887	4.879376	0.541852941781104	0.70833	5.563587	0.999999995025998	0.74766	0.706548	0.73137	0	0.648423	0.57943	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.582000	0.73941	11.871000	0.98575	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.8517:0.1483	14.321	0.66041	618	0.66225	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2228.11	36	chr17	45030174	.	G	A	2228.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.379;DP=1066;ExcessHet=0.1072;FS=3.221;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.705;SOR=0.939	GT:AD:DP:GQ:PL	0/1:50,43:93:99:965,0,1221	19	0	2	0
chr17	45445602	45445602	T	A	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_014798:exon9:c.A2705T:p.Q902L,	Osteopetrosis, autosomal recessive 6	.	0	1498	22	2	0	26	0.00860357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.491	P	0.167	B	0.007	N	0.922	D	0.79	N	-0.15	T	-0.833	T	0.136	T	0.477	2.603	14.66	4.59	2.064	4.142	8.549	0.193	0.0749909675046	.	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0056	0.0006856	106	154602	rs202150970	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0055	0.0054	2.988e-05	0.0001	0	0	0	0.0026	0.0001	0.0004	0.0059	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	0	0	0.0003	0	0	0	0.0034	0.0001	0	0.0041	0.012	0.54683	D	0.162	0.31225	T	0.393	0.34680	B	0.167	0.35118	B	0.006550	0.31955	N	0.303860	0.921527	0.36692	D	0.74	0.18910	N	-0.16	0.65378	T	-3.97	0.73684	D	0.457	0.49420	-0.8326	0.53133	T	0.136	0.45164	T	10	0.008028686	0.00182	T	0.074991	0.72178	D	0.193	0.47281	.	.	0.58541143898	0.58214	0.47933704477401223	0.47853	1.12430380814	0.78398	0.40170788765	0.25306	T	0.286848	0.65963	T	-0.347536	0.04883	T	-0.270069	0.47812	T	0.0756488155978868	0.09422	T	.	.	.	0.28866607	0.51868	0.30442202	0.56471	0.25537038	0.48571	0.26456544	0.52277	-6.071	0.46869	T	.	.	0.171	0.37633	B	.	.	3.909595	0.57010	23.8	0.98840135051041955	0.47102	0.92204	0.55177	D	AEFGBI	0.572506	0.57606	D	-0.0028271487652555	0.41727	2.501141	0.112093294982156	0.45165	2.784664	0.999970400608632	0.50053	0.489673	0.17934	0	0.653731	0.59785	0	0.566861	0.19136	0	0.662433	0.64102	0	.	.	4.59	4.59	0.56297	3.551000	0.53445	7.828000	0.70003	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.1954:0.8046	8.549	0.32601	368	0.84463	Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	578.98	35	chr17	45445602	.	T	A	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.420e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.62;MQRankSum=0.292;QD=6.23;ReadPosRankSum=0.577;SOR=0.760	GT:AD:DP:GQ:PL	0/1:64,29:93:99:593,0,1728	20	0	1	0
chr17	50072086	50072086	C	T	exonic	ITGA3	.	nonsynonymous SNV	ITGA3:NM_002204:exon7:c.C1060T:p.P354S,	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	3212053	ITGA3-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.768	P	0.342	B	0.037	N	0.629	D	0.175	N	-0.41	T	-0.888	T	0.121	T	0.164	0.768	8.062	3.34	1.288	1.571	7.437	0.053	0.0520907620002	.	0.000399361	0.0002	0	0	0	0	7.496e-05	0	0.0013	0.0001876	29	154602	rs549115710	0.0001	0.0001	8.167e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	0	0	1.872e-05	0	7.554e-05	6.623e-05	0.0014	4.599e-05	4.593e-05	2.57e-05	6.72e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	0.342	0.12673	T	0.731	0.05146	T	0.768	0.43819	P	0.342	0.42471	B	0.037265	0.24422	N	0.450290	0.629416	0.32776	D	0.005	0.07933	N	-0.41	0.69413	T	0.61	0.02480	N	0.133	0.12913	-0.8884	0.49071	T	0.121	0.42101	T	10	0.008593142	0.00195	T	0.052091	0.64931	D	0.053	0.14996	.	.	0.696184535837	0.69356	0.596766181027464	0.59607	0.382024845408	0.39543	0.459121227264	0.33189	T	0.116471	0.43584	T	-0.427614	0.01533	T	-0.422393	0.30800	T	0.0343761025652409	0.02701	T	0.873613	0.58243	D	0.036460534	0.04490	0.052904405	0.08807	0.046752017	0.07877	0.050165743	0.07817	-7.588	0.58227	D	0.10639897163662868	0.08547	0.088	0.15877	B	.;.	.;.	2.767149	0.36316	20.2	0.91086407548510084	0.20339	0.89713	0.50355	D	AEFGBCI	0.392645	0.47061	N	-0.168845600040356	0.34436	1.965506	-0.0465650852282931	0.37640	2.206542	0.999582797603416	0.40607	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	3.34	0.37357	0.720000	0.25566	4.948000	0.46261	0.599000	0.40250	0.133000	0.23395	1.000000	0.68203	0.989000	0.64315	0.3446:0.5747:0.0:0.0807	7.437	0.26330	827	0.39843	.;.	.	.	.	.	.	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	0.02381	1348.98	40	chr17	50072086	.	C	T	1348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=808;ExcessHet=0.0000;FS=0.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.839;SOR=0.790	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1363,0,1167	20	0	1	0
chr17	50375775	50375775	T	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.T567A:p.N189K	.	.	417	1083	22	0	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.019	B	0.011	B	0.007	N	1.000	N	1.65	L	2.97	T	-1.018	T	0.024	T	0.07	-0.115	3.436	3.48	0.746	0.268	6.473	0.023	.	0.0012	0.00259585	0.0024	0.0002	0.0008	0	0	0.0014	0.0044	0.0110	0.0021474	332	154602	rs150118812	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0016	0.0114	0.0111	5.974e-05	0.0008	0.0014	2.519e-05	7.489e-05	0.0080	0.0010	0.0019	0.0120	0.0012	0.0012	0.0009	0.0015	0.0129	0.0010	0.0010	0.0103	0.0094	0.0003	0	0.0007	0.0012	0.0002	0	0.0103	0.0012	0.0019	0.0129	0.324	0.13392	T	0.195	0.28032	T	0.019	0.17989	B	0.011	0.15521	B	0.006543	0.31955	N	0.241878	1	0.08975	N	1.59	0.40313	L	2.95	0.09635	T	-1.41	0.34795	N	0.047	0.02964	-1.0182	0.24301	T	0.024	0.10374	T	10	0.0027058125	0.00042	T	.	.	.	0.023	0.04649	0.179	0.08626	0.43912465853	0.43530	0.07992941132986522	0.07927	0.0700650985823	0.07848	0.287010222673	0.08489	T	0.007827	0.07211	T	-0.664322	0.00059	T	-0.717634	0.04911	T	0.00915201793787544	0.00115	T	0.383062	0.09347	T	0.06320632	0.13284	0.0655125	0.13287	0.06320632	0.13284	0.0655125	0.13287	-2.843	0.08586	T	.	.	0.138	0.30264	B	.;.;.	.;.;.	1.567081	0.20069	14.57	0.82479443836745459	0.14213	0.15640	0.19010	N	AEFBI	0.199897	0.32666	N	-0.743084202312359	0.14822	0.7416366	-0.771456895211419	0.15195	0.7979896	0.997124829741262	0.35298	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.58	3.48	0.38946	0.860000	0.27527	-0.119000	0.11742	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.1398:0.0:0.243:0.6172	6.473	0.21218	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2510.98	41	chr17	50375775	.	T	A	2510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=944;ExcessHet=0.0000;FS=5.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.99;ReadPosRankSum=-9.200e-02;SOR=0.958	GT:AD:DP:GQ:PL	0/1:73,84:157:99:2525,0,1884	20	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y,	.	.	1	1414	102	5	0	112	0.0380952	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	3.57	H	-0.89	T	0.222	D	0.428	T	0.899	4.113	21.2	5.83	2.231	5.949	14.155	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	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	0.07143	2291.68	36	chr17	58203086	.	A	T	2291.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.937;DP=835;ExcessHet=0.3300;FS=3.309;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.915;SOR=0.928	GT:AD:DP:GQ:PL	0/1:34,29:63:99:691,0,918	18	0	3	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:32,14:53:11:11,0,392	8	0	11	2
chr17	62612553	62612555	TTC	-	exonic	TLK2	.	nonframeshift deletion	TLK2:NM_001284363:exon20:c.2145_2147del:p.S717del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1875.94	34	chr17	62612552	.	GTTC	G	1875.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=834;ExcessHet=0.0000;FS=9.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.56;MQRankSum=-1.813e+00;QD=15.63;ReadPosRankSum=2.10;SOR=1.470	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1890,0,2767	20	0	1	0
chr17	63545170	63545170	C	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon12:c.C2489A:p.A830D	.	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.381	B	0.143	B	0.013	N	0.991	N	1.39	L	-5.94	D	0.734	D	0.915	D	0.251	1.261	10.11	2.36	0.389	1.657	7.214	0.367	0.28902848351	.	0.00159744	0.0014	0.0002	0.0010	0	0	0.0004	0.0022	0.0080	0.0011837	183	154602	rs146648647	0.0008	0.0008	0.0005	0.0011	0.0093	0.0008	0.0008	0.0087	0.0085	2.987e-05	0.0006	0	2.519e-05	1.885e-05	0.0045	0.0002	0.0010	0.0093	0.0005	0.0005	0.0005	0.0005	0.0072	0.0004	0.0004	0.0054	0.0047	7.215e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0072	0.01	0.56456	D	0.175	0.29945	T	0.277	0.34388	B	0.143	0.33763	B	0.013364	0.28863	N	0.328689	0.999433	0.21230	N	1.355	0.33814	L	-5.94	0.99456	D	-1.05	0.27463	N	0.257	0.29313	0.734	0.93600	D	0.915	0.97170	D	10	0.007865697	0.00179	T	0.289028	0.90498	D	0.367	0.68670	.	.	0.643961431749	0.64101	0.39785121735806944	0.39700	0.321312189581	0.34332	0.299728453159	0.10360	T	0.10268	0.41063	T	-0.245589	0.14645	T	-0.119434	0.61850	T	0.0157242416570985	0.00364	T	0.737426	0.35417	T	0.12717558	0.29768	0.13672428	0.32699	0.12717558	0.29768	0.13672428	0.32698	-4.885	0.40081	T	.	.	0.114	0.22680	B	.;.;.;.	.;.;.;.	1.081331	0.14642	11.20	0.90174368681605954	0.19450	0.91553	0.53771	D	AEFBI	0.355748	0.44737	N	-0.713888070430966	0.15630	0.7894164	-0.707119628019298	0.16783	0.8894742	0.808120538033174	0.24307	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.55	2.36	0.28258	1.859000	0.39058	0.512000	0.19089	-0.182000	0.10109	0.721000	0.28831	0.048000	0.21764	0.009000	0.08673	0.0:0.7008:0.1389:0.1602	7.214	0.25127	875	0.30485	.;.;.;.	.	.	.	.	.	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	0.04762	1210.11	35	chr17	63545170	.	C	A	1210.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.207;DP=784;ExcessHet=0.1072;FS=6.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.496;SOR=0.896	GT:AD:DP:GQ:PL	0/1:21,20:41:99:500,0,605	19	0	2	0
chr17	67109247	67109247	T	G	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon29:c.A4361C:p.Q1454P	.	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.0	B	0.125	N	0.940	N	-0.205	N	-1.65	D	-0.886	T	0.185	T	0.268	1.226	9.975	2.9	0.255	0.716	7.480	0.141	0.0533471789961	0.0022	0.000798722	0.0031	0.0004	0.0048	0	0	0.0044	0.0044	0.0008	0.0028331	438	154602	rs200486206	0.0023	0.0023	0.0023	0.0024	0.0286	0.0023	0.0022	0.0251	0.0237	0.0014	0.0047	0.0456	0	0	0.0286	0.0012	0.0063	0.0011	0.0029	0.0029	0.0028	0.0030	0.0063	0.0027	0.0026	0.0053	0.0049	0.0004	0	0.0063	0.0452	0	0	0.0136	0.0020	0.0133	0.0006	0.403	0.10378	T	0.16	0.31427	T	0.0	0.02946	B	0.0	0.01387	B	0.125400	0.18844	N	0.586313	0.939514	0.26833	N	0.55	0.14455	N	-1.65	0.82625	D	0.15	0.05310	N	0.258	0.29774	-0.8856	0.49307	T	0.185	0.53436	T	10	0.003847301	0.00073	T	0.053347	0.65431	D	0.141	0.37795	.	.	0.182106788282	0.17826	0.12000937366773848	0.11927	0.199647858005	0.22366	0.377299427986	0.21872	T	0.046825	0.27539	T	-0.373561	0.03418	T	-0.307037	0.43977	T	0.00676942539424807	0.00076	T	0.725927	0.34027	T	0.043905076	0.06924	0.08426442	0.19370	0.06797795	0.14768	0.100794375	0.24111	-2.667	0.07030	T	.	.	0.066	0.08899	B	.;.	.;.	1.652874	0.21087	15.04	0.91971265482899434	0.21301	0.75661	0.37057	D	AEFDGBIJ	0.162986	0.28922	N	-0.518538489684839	0.21480	1.140282	-0.322269548668815	0.27380	1.518927	0.999995072417583	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	2.9	0.32809	0.722000	0.25595	0.161000	0.15406	0.568000	0.28809	0.999000	0.42656	0.939000	0.28734	0.997000	0.79791	0.1339:0.0:0.2792:0.5868	7.480	0.26567	550	0.72197	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1000.98	33	chr17	67109247	.	T	G	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.132e+00;DP=787;ExcessHet=0.0000;FS=4.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.170;SOR=0.760	GT:AD:DP:GQ:PL	0/1:39,36:75:99:1015,0,1288	20	0	1	0
chr17	73247252	73247252	C	T	exonic	C17orf80	.	stopgain	C17orf80:NM_001100621:exon5:c.C1633T:p.R545X	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.440	N	0.999	D	.	.	.	.	.	.	.	.	.	3.319	17.16	-2.43	-0.575	-1.259	2.704	.	.	0.0002	0.000199681	0.0004	9.612e-05	0.0003	0	0	0.0006	0	6.057e-05	0.0003299	51	154602	rs201280325	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0002	0.0001	0	0.0002	0.0079	0	0	0.0007	0.0001	0.0007	0.0002	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0	0	6.541e-05	0.0075	0	0	0	0.0003	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.440464	0.04757	N	1.399460	0.953872	0.47278	D	.	.	.	.	.	.	.	.	.	0.055	0.05670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0880479	0.62968	D	0.194675	0.82835	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;Tolerant;.	.;High;.;High;.	5.493541	0.91510	32	0.93951353651387459	0.24014	0.00492	0.02329	N	AEFDBI	0.030223	0.03001	N	-0.432427601816662	0.24339	1.31354	-0.859534762766361	0.13058	0.6753454	2.30137796170688E-4	0.06048	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.31	-2.43	0.06145	-1.263000	0.02959	-9.687000	0.00789	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.239000	0.22975	0.2115:0.3679:0.0:0.4206	2.704	0.04837	419	0.81524	.;.;.;.;.	.	.	.	.	.	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	0.02381	1211.98	33	chr17	73247252	.	C	T	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=775;ExcessHet=0.0000;FS=2.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=0.194;SOR=1.037	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1226,0,744	20	0	1	0
chr17	73437987	73437987	C	T	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon7:c.G893A:p.R298Q,	.	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.014	B	0.018	B	0.113	U	0.933	N	0.77	N	1.68	T	-1.009	T	0.036	T	0.179	2.623	14.73	4.1	1.127	1.974	6.707	0.065	.	.	0.00638978	0.0123	0.0005	0.0023	0	0	0	0.005	0.0301	0.0024838	384	154602	rs546431565	0.0019	0.0020	0.0010	0.0029	0.0319	0.0019	0.0018	0.0309	0.0304	0.0002	2.802e-05	0	2.801e-05	2.052e-05	0.0016	2.411e-05	0.0022	0.0319	0.0011	0.0011	0.0006	0.0017	0.0342	0.0010	0.0010	0.0299	0.0283	0.0002	0	0	0	0.0002	0	0	0	0	0.0342	0.008	0.58626	D	0.145	0.33000	T	0.014	0.16867	B	0.018	0.18489	B	0.112725	0.19345	U	0.466924	0.933419	0.26996	N	0.76	0.19266	N	1.68	0.27184	T	-0.33	0.12472	N	0.241	0.27197	-1.0087	0.27323	T	0.036	0.15422	T	10	0.0048659146	0.00104	T	.	.	.	0.065	0.18881	.	.	0.191931220699	0.18833	0.5780800715697186	0.57737	0.287369703213	0.31141	0.30911642313	0.11774	T	0.018139	0.14677	T	-0.548224	0.00299	T	-0.535888	0.18703	T	0.0170755405499214	0.00454	T	0.90161	0.65783	D	0.10013258	0.23639	0.09788593	0.23316	0.10013258	0.23639	0.09788593	0.23315	-4.527	0.31240	T	.	.	0.081	0.08465	B	.	.	3.142884	0.42517	21.6	0.9985064422361648	0.93013	0.62731	0.31871	D	AEFDGBI	0.233102	0.35608	N	-0.563945626544369	0.20048	1.054007	-0.433002980180035	0.24035	1.313952	0.00607302397385722	0.11122	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.07	4.1	0.47196	2.035000	0.40776	2.184000	0.31153	0.587000	0.30956	0.511000	0.27041	0.975000	0.29991	0.761000	0.36181	0.0:0.5764:0.2683:0.1552	6.707	0.22447	454	0.79125	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1950.11	37	chr17	73437987	.	C	T	1950.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.00;DP=832;ExcessHet=0.1072;FS=2.226;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=0.816;SOR=0.511	GT:AD:DP:GQ:PL	0/1:29,29:58:99:835,0,755	19	0	2	0
chr17	74850229	74850229	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon6:c.G1468A:p.V490I	.	.	393	1103	26	0	0	26	0.0116487	.	.	717898	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.34	T	0.012	B	0.006	B	0.000	D	0.867	D	0.895	L	1.74	T	-1.020	T	0.078	T	0.063	2.147	13.13	3.09	2.256	2.112	8.195	0.062	.	0.0018	0.00678914	0.0045	0.0004	0.0017	0	0.0002	0.0024	0.0022	0.0214	0.0039909	617	154602	rs11575879	0.0026	0.0026	0.0021	0.0032	0.0195	0.0026	0.0025	0.0188	0.0184	0.0002	0.0017	0.0055	2.519e-05	0.0001	0.0094	0.0015	0.0038	0.0195	0.0024	0.0024	0.0021	0.0027	0.0222	0.0022	0.0021	0.0188	0.0175	0.0004	0	0.0039	0.0066	0.0002	0.0002	0.0204	0.0021	0.0028	0.0222	0.33	0.13131	T	0.283	0.22084	T	0.012	0.16265	B	0.006	0.12133	B	0.000493	0.43931	D	0.153988	0.866566	0.35484	D	0.46	0.12951	N	0.73	0.50721	T	-0.65	0.18877	N	0.137	0.20129	-1.0197	0.23812	T	0.078	0.31193	T	10	0.010271847	0.00229	T	.	.	.	0.062	0.17934	.	.	0.611931882649	0.60880	0.35387566347811217	0.35301	0.388676200589	0.40129	0.45320802927	0.32382	T	0.122326	0.44591	T	-0.595195	0.00156	T	-0.611476	0.11864	T	0.00969551111577982	0.00127	T	0.872813	0.58002	D	0.04485722	0.07242	0.039610934	0.04095	0.04485722	0.07242	0.039610934	0.04095	-6.864	0.53033	T	.	.	0.066	0.02313	B	.;.	.;.	3.849150	0.55744	23.6	0.96348833222253172	0.29510	0.74886	0.36645	D	AEFDBHCI	0.151619	0.27614	N	-0.257822359323592	0.30791	1.720286	-0.103504293223801	0.35248	2.037063	0.797738837798166	0.24130	0.653496	0.48692	0	0.613122	0.52510	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.06	3.09	0.34677	1.861000	0.39078	3.904000	0.40368	0.599000	0.40250	0.965000	0.33920	0.999000	0.35428	0.997000	0.79791	0.1604:0.7485:0.0:0.0911	8.195	0.30550	895	0.25842	Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain;Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-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	0.07143	7293.66	36	chr17	74850229	.	C	T	7293.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.730;DP=1054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.39;ReadPosRankSum=-3.210e-01;SOR=0.701	GT:AD:DP:GQ:PL	1/1:0,160:160:99:5033,480,0	19	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC:p.P33_A34insTEPMEPTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30,0,0,0:30:80:.:.:1147,80,0,1156,89,1165,1156,89,1165,1165,1156,89,1165,1165,1165	12	1	1	0
chr17	74893515	74893515	-	GGTTCCATGGGCTCCGTA	exonic	FADS6	.	nonframeshift insertion	FADS6:NM_178128:exon1:c.80_81insTACGGAGCCCATGGAACC:p.P33_A34insTEPMEP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30,0,0,0:30:80:.:.:1147,80,0,1156,89,1165,1156,89,1165,1165,1156,89,1165,1165,1165	12	1	1	0
chr17	74893497	74893497	-	CATGGGCTCCGTA	exonic	FADS6	.	frameshift insertion	FADS6:NM_178128:exon1:c.98_99insTACGGAGCCCATG:p.A34Tfs*256,	.	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	7.691e-05	0.0002	0.0011	0.0001	9.685e-05	0.0005	0.0003	3.3e-05	2.49e-05	0.0008	0	0.0009	0.0011	4.107e-05	0.0002	0.0005	0.0003	0.0003	0.0003	0.0004	0.0018	0.0002	0.0002	0.0009	0.0006	9.334e-05	0	8.304e-05	0	0	0.0013	0	0.0003	0.0006	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8568.97	33	chr17	74893497	.	CGGTTCCATGGGCTCCGTA	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,C,CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA,CCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	8568.97	.	AC=3,1,5,2;AF=0.071,0.024,0.119,0.048;AN=42;BaseQRankSum=0.354;DP=1189;ExcessHet=0.4237;FS=2.515;InbreedingCoeff=0.1378;MLEAC=3,1,5,2;MLEAF=0.071,0.024,0.119,0.048;MQ=59.89;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-9.180e-01;SOR=0.610	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30,0,0,0:30:80:.:.:1147,80,0,1156,89,1165,1156,89,1165,1165,1156,89,1165,1165,1165	12	1	1	0
chr17	75816856	75816856	G	A	exonic	UNK	.	nonsynonymous SNV	UNK:NM_001080419:exon8:c.G1048A:p.A350T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.999	D	0.959	D	0.011	N	1.000	D	0.755	N	.	.	-0.715	T	0.260	T	0.623	3.191	16.68	4.94	2.733	6.154	18.739	0.150	0.00383437944931	0.0003	.	0.0005	0	0.0001	0	0.0010	0.0007	0	0.0006	0.000414	64	154602	rs201667287	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0005	0.0005	8.971e-05	8.978e-05	3.835e-05	0	0.0005	0.0005	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	4.831e-05	0	6.545e-05	0	0	0.0003	0	0.0003	0	0.0004	.	.	.	0.67	0.06305	T	0.999	0.77913	D	0.959	0.70163	D	0.010996	0.29704	N	0.377447	0.999998	0.58761	D	0.345	0.11182	N	.	.	.	.	.	.	0.608	0.62526	-0.7147	0.59722	T	0.260	0.63077	T	9	0.1930187	0.35054	T	0.003834	0.08961	T	.	.	.	.	0.138757226776	0.13463	0.47185551717078617	0.47104	0.381255657936	0.39490	0.755450367928	0.75253	T	0.058524	0.30865	T	-0.17994	0.23744	T	-0.11552	0.62168	T	0.107448245181087	0.13157	T	0.865513	0.56452	D	0.117643334	0.27731	0.16091686	0.37456	0.117643334	0.27731	0.16091686	0.37455	-3.746	0.20000	T	.	.	0.084	0.09868	B	.	.	3.650500	0.51811	23.1	0.99706523812606629	0.81005	0.96523	0.69565	D	AEFBI	0.641828	0.61902	D	0.550497562224471	0.70111	5.453993	0.574657295014333	0.73129	5.920104	0.999992304458485	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.94	4.94	0.64645	6.277000	0.72632	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	18.739	0.91732	946	0.12043	.	.	.	.	.	.	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	0.04762	2097.08	36	chr17	75816856	.	G	A	2097.08	.	AC=2;AF=0.048;AN=42;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.39;SOR=0.910	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2125,207,0	20	1	0	0
chr17	76101263	76101266	CCCC	-	exonic	EXOC7	.	frameshift deletion	EXOC7:NM_001282314:exon4:c.422_425del:p.R141Ifs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	123.94	33	chr17	76101262	.	ACCCC	A	123.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=815;ExcessHet=0.0000;FS=50.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.119;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,18:120:99:0|1:76101262_ACCCC_A:138,0,4114:76101262	20	0	1	0
chr17	76101266	76101266	-	AAAA	exonic	EXOC7	.	frameshift insertion	EXOC7:NM_001282314:exon4:c.421_422insTTTT:p.R141Ifs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	455.09	149	chr17	76101266	.	C	CAAAA	455.09	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.010e-01;DP=932;ExcessHet=0.0000;FS=187.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.99;ReadPosRankSum=0.897;SOR=8.222	GT:AD:DP:GQ:PL	0/1:97,17:119:99:461,0,3951	20	0	1	0
chr17	79945029	79945029	G	A	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_001271844:exon6:c.C662T:p.S221L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.511	P	0.166	B	0.160	N	1.000	N	1.59	L	1.82	T	-1.090	T	0.045	T	0.394	2.278	13.58	4.12	1.098	2.696	14.802	0.097	0.0101798689974	.	0.000399361	3.377e-05	0	0.0011	0	0	0	0	0	5.17e-05	8	154602	rs181056828	2.237e-05	2.599e-05	2.354e-05	2.117e-05	0.0007	1.619e-05	1.385e-05	0.0005	0.0005	0	0.0007	0	0	0	0	9.109e-07	3.372e-05	0	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	8.711e-05	0.0008	0.0007	7.215e-05	0	0.0012	0	0	0	0	0	0.0005	0	0.061	0.37118	T	0.106	0.38742	T	0.511	0.37337	P	0.166	0.35067	B	0.159620	0.17705	N	0.593369	1	0.08975	N	1.36	0.34107	L	1.82	0.25018	T	-2.9	0.63207	D	0.312	0.39254	-1.0901	0.05515	T	0.045	0.19437	T	10	0.032811165	0.01441	T	0.01018	0.26412	T	0.097	0.27909	.	.	0.482646159919	0.47895	0.2553351122021198	0.25447	0.526113108519	0.50245	0.508468985558	0.40008	T	0.19766	0.55440	T	-0.367874	0.03702	T	-0.419031	0.31186	T	0.0600106803421763	0.07171	T	0.921908	0.71628	D	0.16503319	0.36749	0.19459799	0.43091	0.16503319	0.36749	0.19459799	0.43090	-5.183	0.46936	T	.	.	0.086	0.13923	B	.;.;.;.;.	.;.;.;.;.	3.373073	0.46622	22.3	0.99402889055450583	0.62887	0.24605	0.22445	N	AEFDBCI	0.273875	0.38919	N	-0.343669262754005	0.27506	1.50964	-0.34914145661403	0.26535	1.466331	0.999566222264948	0.40425	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.11	4.12	0.47504	2.771000	0.47354	8.415000	0.77135	0.676000	0.76740	0.079000	0.22314	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8548:0.1452	14.802	0.69548	855	0.34697	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;.;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	532.98	38	chr17	79945029	.	G	A	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.698e+00;DP=778;ExcessHet=0.0000;FS=0.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.72;ReadPosRankSum=-1.248e+00;SOR=0.817	GT:AD:DP:GQ:PL	0/1:42,27:69:99:547,0,1083	20	0	1	0
chr17	79952727	79952727	C	T	exonic	TBC1D16	.	nonsynonymous SNV	TBC1D16:NM_019020:exon4:c.G871A:p.A291T,	.	.	422	1088	11	1	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.977	D	0.242	B	0.000	N	1.000	D	2.14	M	2.66	T	-1.053	T	0.020	T	0.065	3.782	19.20	0.844	0.239	1.939	6.067	0.121	.	0.0052	0.00119808	0.0058	0.0015	0.0018	0	0.0157	0.0079	0.0023	0.0021	0.0055239	854	154602	rs150604803	0.0063	0.0063	0.0064	0.0062	0.0065	0.0062	0.0061	0.0064	0.0064	0.0009	0.0015	0.0081	2.521e-05	0.0195	0.0061	0.0065	0.0053	0.0024	0.0048	0.0048	0.0045	0.0052	0.0062	0.0045	0.0044	0.0057	0.0055	0.0013	0.0011	0.0029	0.0069	0.0002	0.0157	0.0068	0.0062	0.0028	0.0015	0.09	0.31987	T	0.162	0.31225	T	0.977	0.58535	D	0.242	0.38699	B	0.000140	0.49741	N	0.207799	0.999585	0.47691	D	2.15	0.60148	M	2.66	0.12575	T	-1.18	0.30140	N	0.251	0.28381	-1.0529	0.13601	T	0.020	0.08407	T	10	0.007129371	0.00162	T	.	.	.	0.121	0.33580	.	.	0.391470661076	0.38757	0.2829834522016896	0.28211	0.0725644733559	0.08133	0.544286251068	0.45052	T	0.024122	0.18284	T	-0.632355	0.00092	T	-0.675137	0.07283	T	0.0199643503125701	0.00697	T	0.80432	0.45191	T	0.042801093	0.06557	0.061765444	0.11979	0.042801093	0.06556	0.061765444	0.11978	-3.401	0.15070	T	.	.	0.068	0.02894	B	.	.	1.908742	0.24245	16.32	0.9948379076596906	0.67014	0.84028	0.43115	D	AEFDBCI	0.150831	0.27520	N	-0.222171161628662	0.32224	1.815097	-0.296288536663029	0.28221	1.571753	0.999919340409839	0.45857	0.67177	0.52595	0	0.627178	0.54094	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.3	0.844	0.18083	1.988000	0.40319	0.044000	0.13909	-0.202000	0.08738	0.929000	0.32243	0.002000	0.18203	0.685000	0.33688	0.1321:0.6492:0.0:0.2186	6.067	0.19094	854	0.34840	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	577.98	35	chr17	79952727	.	C	T	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.804e+00;DP=750;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.600e+00;SOR=0.384	GT:AD:DP:GQ:PL	0/1:23,25:48:99:592,0,600	20	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6471	53123.61	98	chr17	80090216	.	G	C,*	53123.61	.	AC=21,1;AF=0.618,0.029;AN=34;BaseQRankSum=1.74;DP=3278;ExcessHet=5.2224;FS=0.555;InbreedingCoeff=-0.1442;MLEAC=25,1;MLEAF=0.735,0.029;MQ=55.51;MQRankSum=-5.208e+00;QD=22.16;ReadPosRankSum=-1.655e+00;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,193,0:193:99:1|1:80090216_G_C:7288,580,0,7288,580,7288:80090216	1	6	9	4
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,104,0:104:99:1|1:80090216_G_C:4183,313,0,4183,313,4183:80090216	1	7	4	7
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I	.	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.002	B	0.000	N	0.999	N	-2.28	N	1.26	T	-0.954	T	0.010	T	0.167	-0.711	0.937	2.3	0.230	5.510	7.368	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3384.11	36	chr17	81460363	.	G	A	3384.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.99;DP=986;ExcessHet=0.1072;FS=0.454;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.191;SOR=0.658	GT:AD:DP:GQ:PL	0/1:50,84:134:99:2071,0,1047	19	0	2	0
chr18	5397378	5397378	C	T	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.G1855A:p.V619M	.	.	423	1064	18	2	15	37	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.389	B	0.057	B	0.278	N	1.000	N	0	N	-0.08	T	-0.837	T	0.186	T	0.113	0.439	6.386	-1.73	-0.181	0.266	3.865	0.063	.	0.0028	0.00279553	0.0031	0.0008	0.0010	0.0001	0.0009	0.0027	0.0077	0.0101	0.0029495	456	154602	rs151294672	0.0030	0.0030	0.0028	0.0032	0.0095	0.0029	0.0029	0.0090	0.0088	0.0007	0.0011	0.0002	5.038e-05	0.0011	0.0071	0.0029	0.0033	0.0095	0.0021	0.0021	0.0020	0.0023	0.0100	0.0019	0.0018	0.0077	0.0069	0.0007	0	0.0024	0.0003	0.0002	0.0007	0	0.0028	0.0038	0.0100	0.184	0.28646	T	0.117	0.37037	T	0.005	0.34565	B	0.007	0.26280	B	0.277681	0.03813	N	1.418160	1	0.08975	N	0.345	0.11182	N	-1.58	0.82625	D	-0.09	0.15578	N	0.079	0.09066	-0.8374	0.52819	T	0.186	0.53571	T	10	0.0035730302	0.00065	T	.	.	.	0.063	0.18251	.	.	0.395894371353	0.39203	0.1363486234322469	0.13558	0.199788861361	0.22381	0.2263084203	0.01706	T	0.092904	0.39101	T	-0.469966	0.00850	T	-0.439889	0.28820	T	0.00345775614129726	0.00036	T	0.727427	0.35200	T	0.024089763	0.01207	0.03984452	0.04170	0.024089763	0.01207	0.03984452	0.04170	-5.785	0.46154	T	.	.	0.072	0.06205	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.633611	0.10018	6.773	0.94905328760467222	0.25761	0.12905	0.17550	N	AEFBI	0.162373	0.28854	N	-1.216821364556	0.04755	0.2153067	-1.20732467731098	0.05792	0.276942	0.801029181660734	0.24186	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.94	-1.73	0.07646	0.326000	0.19391	1.562000	0.27363	-0.847000	0.02749	0.138000	0.23473	0.996000	0.32793	0.000000	0.00833	0.204:0.2944:0.4097:0.0919	3.865	0.08518	769	0.49307	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1061.98	35	chr18	5397378	.	C	T	1061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.446;DP=759;ExcessHet=0.0000;FS=5.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.70;ReadPosRankSum=0.586;SOR=1.483	GT:AD:DP:GQ:PL	0/1:23,37:60:99:1076,0,608	20	0	1	0
chr18	6997813	6997813	T	C	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.A4735G:p.N1579D,	Poretti-Boltshauser syndrome, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	785971	not_provided|LAMA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.99	D	0.000	D	1.000	D	2.045	M	2.59	T	-1.109	T	0.090	T	0.196	3.055	16.20	5.36	2.160	5.900	15.640	0.446	0.0225762112817	.	0.000998403	0.0009	0	0	0	0	0	0	0.0067	0.0007503	116	154602	rs542801679	0.0004	0.0004	0.0002	0.0007	0.0069	0.0004	0.0004	0.0064	0.0062	2.987e-05	0	0	0	0	0	2.698e-06	0.0004	0.0069	0.0002	0.0002	7.708e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0.0005	0.0066	0.069	0.35537	T	0.051	0.47828	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.050093	0.999561	0.47592	D	2.535	0.73915	M	2.59	0.13317	T	-4.23	0.75935	D	0.671	0.67908	-1.1088	0.03174	T	0.090	0.34683	T	10	0.033602595	0.01540	T	0.022576	0.45482	T	0.446	0.74797	0.86	0.95774	0.432266382184	0.42845	0.6924408560923319	0.69184	0.573544522474	0.53406	0.556914687157	0.46832	T	0.126021	0.45212	T	-0.525104	0.00411	T	-0.522767	0.20014	T	0.219005546056348	0.21414	T	0.754824	0.37774	T	0.44021535	0.63416	0.41659307	0.65739	0.44021535	0.63417	0.41659307	0.65739	-6.596	0.51022	T	0.6904405708303029	0.76808	0.252	0.48705	B	.	.	4.140848	0.62042	24.4	0.99786600275607229	0.87308	0.94816	0.62428	D	AEFDGBCI	0.713236	0.66610	D	0.516002009681438	0.68037	5.162164	0.455867225649733	0.65094	4.780541	0.999640780561609	0.41316	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.36	5.36	0.76624	3.415000	0.52455	5.023000	0.46762	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.319000	0.24947	0.0:0.0:0.0:1.0	15.640	0.76746	862	0.33134	Laminin alpha, domain I	.	.	.	.	.	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	0.02381	1432.98	37	chr18	6997813	.	T	C	1432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=842;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.262;SOR=0.640	GT:AD:DP:GQ:PL	0/1:63,61:124:99:1447,0,1533	20	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:232,0,157:389:99:0|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:5824,6947,19374,0,9968,9030:9887391	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,157,0:389:99:0|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:5824,0,9030,6947,9968,19374:9887391	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,157,0:389:99:0|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:5824,0,9030,6947,9968,19374:9887391	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,157,0:389:99:0|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:5824,0,9030,6947,9968,19374:9887391	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,157,0:389:99:0|1:9887391_GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA_G:5824,0,9030,6947,9968,19374:9887391	7	3	8	2
chr18	13057699	13057699	T	C	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon20:c.T4223C:p.I1408T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.923	D	0.022	N	1.000	D	2.045	M	2.86	T	-1.121	T	0.075	T	0.858	2.829	15.42	5.23	2.095	7.044	15.416	0.406	0.016650349199	7.7e-05	.	2.474e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs139654577	1.231e-05	1.231e-05	1.77e-05	6.876e-06	0.0002	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	1.872e-05	0.0002	8.993e-06	3.312e-05	3.478e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.007	0.74150	D	.	.	.	.	.	.	0.022241	0.26671	N	0.352897	0.99951	0.47363	D	.	.	.	1.29	0.35775	T	-3.58	0.69118	D	0.834	0.82964	-1.1212	0.02257	T	0.075	0.30117	T	10	0.7001247	0.72391	D	0.01665	0.38007	T	0.406	0.71869	.	.	0.707482077701	0.70493	0.6552905298551482	0.65465	0.477938957657	0.46890	0.338201403618	0.16169	T	0.328767	0.69914	T	0.144472	0.68749	D	0.052613	0.73757	D	0.832959175109863	0.48761	D	0.889011	0.61998	D	0.3093519	0.53730	0.37049845	0.62298	0.3093519	0.53730	0.37049845	0.62298	-10.028	0.74079	D	.	.	0.303	0.54019	B	.;.;.	.;.;.	3.755906	0.53860	23.4	0.99569531271173439	0.72318	0.99686	0.98662	D	AEFDBI	0.665034	0.63400	D	0.491463444401076	0.66588	4.969833	0.400793580589111	0.61614	4.364022	0.999999989017511	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.23	5.23	0.72570	7.003000	0.76062	6.025000	0.52847	0.665000	0.62972	1.000000	0.71638	0.995000	0.32472	0.159000	0.20615	0.0:0.0:0.0:1.0	15.416	0.74690	466	0.78352	.;.;.	.	.	.	.	.	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	0.02381	769.98	33	chr18	13057699	.	T	C	769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.370e-01;DP=777;ExcessHet=0.0000;FS=7.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.46;ReadPosRankSum=0.420;SOR=0.362	GT:AD:DP:GQ:PL	0/1:56,35:91:99:784,0,1496	20	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.436	0.020	0.702	0.544	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2889.11	35	chr18	14513787	.	T	C	2889.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.05;DP=1286;ExcessHet=0.1072;FS=5.774;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.38;MQRankSum=3.19;QD=7.70;ReadPosRankSum=1.18;SOR=0.976	GT:AD:DP:GQ:PL	0/1:110,55:165:99:1244,0,2578	19	0	2	0
chr18	21477177	21477177	T	C	exonic	GREB1L	.	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.T2377C:p.S793P,	.	.	429	1089	4	0	0	4	0.00183318	.	.	756387	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.22	T	0.979	D	0.776	P	0.000	D	1.000	D	1.555	L	3.13	T	-1.127	T	0.037	T	0.613	2.928	15.76	4.15	0.932	6.039	9.799	0.123	0.0156490588893	.	.	0.0008	0	0	0	0	0.0016	0	0.0003	0.0001294	20	154602	rs201945550	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	6.332e-05	2.805e-05	0.0062	0	2.024e-05	0.0016	6.491e-05	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	4.764e-05	3.339e-05	2.412e-05	0	0	0.0069	0	0	0.0032	0.0001	0.0005	0	0.146	0.25055	T	0.122	0.35710	T	0.963	0.59044	D	0.698	0.57120	P	0.000049	0.53742	D	0.000000	0.997624	0.81001	D	2.045	0.56016	M	3.13	0.08014	T	-1.98	0.45769	N	0.606	0.66787	-1.1272	0.01921	T	0.037	0.15856	T	10	0.009940386	0.00223	T	0.015649	0.36500	T	0.123	0.34020	.	.	0.237489013734	0.23353	0.49198798460717835	0.49119	.	.	0.563418507576	0.47750	T	0.008032	0.07391	T	-0.269986	0.11759	T	-0.377284	0.36041	T	0.113182731063226	0.13750	T	0.825817	0.48860	T	0.3587693	0.57742	0.40521434	0.64928	0.3587693	0.57742	0.40521434	0.64928	-4.313	0.28358	T	0.3179187813346066	0.41599	0.149	0.36436	B	.;.;.	.;.;.	4.166423	0.62610	24.5	0.99762964809125088	0.85254	0.96747	0.70723	D	AEFGI	0.773861	0.70774	D	0.389993756892268	0.60880	4.281891	0.390786461701051	0.60996	4.293734	0.999437241792456	0.39683	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.34	4.15	0.47978	4.065000	0.57229	4.985000	0.46489	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.2748:0.0:0.0:0.7252	9.799	0.39923	401	0.82673	.;.;.	.	.	.	.	.	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	0.02381	859.98	36	chr18	21477177	.	T	C	859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.190e-01;DP=756;ExcessHet=0.0000;FS=3.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.853;SOR=1.263	GT:AD:DP:GQ:PL	0/1:31,33:64:99:874,0,799	20	0	1	0
chr18	23763459	23763459	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon8:c.G1118A:p.R373Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.055	B	0.005	B	.	.	1.000	N	1.51	L	2.16	T	-0.962	T	0.035	T	0.105	0.981	9.003	-0.953	-0.185	0.127	7.226	0.033	0.00243974362847	.	.	3.312e-05	0	0	0	0	5.993e-05	0	0	2.59e-05	4	154602	rs367796914	8.893e-06	8.893e-06	8.168e-06	9.626e-06	6.708e-05	4.96e-06	3.82e-06	1.779e-05	8.93e-06	0	6.708e-05	0	5.039e-05	0	0	7.195e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.08310	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19311	T	-0.63	0.18459	N	0.222	0.24883	-0.9618	0.38839	T	0.035	0.15074	T	9	0.07467306	0.11443	T	0.00244	0.04813	T	0.033	0.08068	.	.	0.163833314356	0.15978	0.26600763636911473	0.26513	0.13986211965	0.15759	0.206470102072	0.00670	T	0.017	0.13819	T	-0.4627	0.00945	T	-0.705441	0.05533	T	0.0105730377171928	0.00147	T	0.165683	0.01531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00625	B	.;.	.;.	0.676091	0.10444	7.165	0.90125033424185308	0.19405	0.03620	0.08858	N	AEFI	0.051982	0.09235	N	-1.06199573337805	0.07353	0.3413434	-1.05055309483164	0.08695	0.4288181	1.04621086296584E-4	0.05123	0.615465	0.37627	0	0.573888	0.26702	0	0.597571	0.31856	0	0.655142	0.61905	0	.	.	6.03	-0.953	0.09834	-0.028000	0.12299	-0.092000	0.12046	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.4978:0.1183:0.384:0.0	7.226	0.25191	658	0.62094	.;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-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	0.02381	1143.98	38	chr18	23763459	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=837;ExcessHet=0.0000;FS=0.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=0.946;SOR=0.859	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1158,0,947	20	0	1	0
chr18	31086611	31086611	C	T	exonic	DSC2	.	nonsynonymous SNV	DSC2:NM_004949:exon7:c.G907A:p.V303M	Arrhythmogenic right ventricular dysplasia 11, Autosomal recessive, Autosomal dominant;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Autosomal recessive, Autosomal dominant	.	0	1506	15	1	0	17	0.00561241	.	.	55367	not_provided|Cardiovascular_phenotype|not_specified|Arrhythmogenic_right_ventricular_dysplasia_11|Cardiomyopathy	MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0012506,MedGen:C1864850,OMIM:610476|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.99	D	0.796	P	.	.	0.861	N	2.145	M	0.62	T	-0.815	T	0.199	T	0.299	3.089	16.32	3.8	0.706	0.854	4.795	0.200	.	0.0002	0.00299521	0.0012	0	8.64e-05	0	0	0.0004	0	0.0073	0.0010931	169	154602	rs145560678	0.0006	0.0006	0.0004	0.0008	0.0065	0.0006	0.0006	0.0061	0.0059	0	8.944e-05	0	0.0002	0	0.0062	0.0003	0.0009	0.0065	0.0005	0.0005	0.0004	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	2.406e-05	0	0.0003	0	0	0	0.0136	0.0004	0.0005	0.0079	0.014	0.53172	D	0.035	0.52389	D	0.99	0.63424	D	0.796	0.58006	P	.	.	.	.	0.860661	0.28360	N	2.57	0.75187	M	0.62	0.53302	T	-2.53	0.54864	D	0.334	0.37509	-0.8147	0.54263	T	0.199	0.55485	T	9	0.011647344	0.00254	T	.	.	.	0.200	0.48430	.	.	0.582828786496	0.57955	0.4682476576227785	0.46743	0.272612617038	0.29765	0.442356407642	0.30899	T	0.107909	0.42050	T	-0.428186	0.01520	T	-0.38439	0.35209	T	0.0671591548802075	0.08247	T	0.886711	0.62748	D	0.25397187	0.48422	0.22816357	0.47849	0.15264723	0.34641	0.26064792	0.51830	-5.513	0.42110	T	0.6873178471594483	0.76456	0.143	0.31355	B	.;.;.	.;.;.	3.459069	0.48208	22.6	0.99877424224254485	0.95410	0.15360	0.18873	N	AEFGBI	0.098859	0.19911	N	0.178683130312862	0.50175	3.210198	0.0890087908569607	0.43994	2.689829	0.760416309876792	0.23501	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.61	3.8	0.42887	0.758000	0.26113	1.802000	0.28890	0.599000	0.40250	0.018000	0.19461	0.928000	0.28476	0.900000	0.43643	0.3051:0.5373:0.0:0.1576	4.795	0.12637	810	0.42761	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	0	0	1	0	0.07143	3001.68	78	chr18	31086611	.	C	T	3001.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.209;DP=873;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-1.320e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:40,30:70:99:767,0,922	18	0	3	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	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:23,23:46:99:209,0,315	1	0	20	0
chr18	33346276	33346276	A	G	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.T593C:p.I198T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.98	D	0.814	P	.	.	1.000	N	1.7	L	1.97	T	-0.776	T	0.248	T	0.491	-0.422	2.031	5.59	2.129	5.551	13.292	0.205	0.0261056520105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.713e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.311	0.19660	T	0.902	0.59353	P	0.602	0.58796	P	.	.	.	.	0.999998	0.58761	D	2.295	0.65404	M	1.97	0.22881	T	-2.42	0.57275	N	0.698	0.70878	-0.7764	0.56504	T	0.248	0.61739	T	9	0.48777482	0.60810	T	0.026106	0.49041	D	0.205	0.49236	0.341	0.33302	0.298403945805	0.29456	0.05798785686706267	0.05739	0.140614320253	0.15858	0.639569044113	0.58502	T	0.054511	0.29746	T	-0.0764447	0.40293	T	-0.347584	0.39483	T	0.661568875744033	0.38965	D	0.761624	0.40735	T	0.15347572	0.34787	0.33184472	0.59039	0.15347572	0.34786	0.33184472	0.59039	-5.092	0.38646	T	.	.	0.518	0.70398	A	.;.;.;.;.;.	.;.;.;.;.;.	3.290769	0.45128	22.1	0.56288752279565435	0.05520	0.67819	0.33572	D	AEFI	0.590453	0.58694	D	0.165334724824278	0.49541	3.153272	0.0797987663951845	0.43535	2.653175	0.0172036423084352	0.12924	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	5.915000	0.69704	11.043000	0.85201	0.756000	0.94297	0.890000	0.31197	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	13.292	0.59709	780	0.47616	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	41.98	73	chr18	33346276	.	A	G	41.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.821e+00;DP=1231;ExcessHet=0.0000;FS=114.255;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=1.56;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,14:59:56:.:.:56,0,911	20	0	1	0
chr18	36251234	36251234	C	G	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.C2115G:p.I705M,	Xanthinuria, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.996	D	0.969	D	0.000	D	0.841	N	2.67	M	2.23	T	-0.920	T	0.129	T	0.579	2.828	15.42	5.52	2.597	1.337	14.951	0.226	0.0107365443316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.009	0.66756	D	0.996	0.68779	D	0.969	0.72001	D	0.000000	0.84330	D	0.045766	0.841124	0.28629	N	3.085	0.87354	M	2.23	0.18083	T	-1.72	0.40850	N	0.347	0.38848	-0.9199	0.45567	T	0.129	0.43686	T	10	0.41901618	0.56737	T	0.010737	0.27620	T	0.226	0.52472	0.571	0.69431	0.504727117792	0.50111	0.4522939555101393	0.45147	0.329442917781	0.35053	0.491320937872	0.37621	T	0.060496	0.31403	T	-0.0668327	0.41832	T	-0.333777	0.41048	T	0.959726750850677	0.65611	D	0.857114	0.54640	D	0.56591505	0.70836	0.38837197	0.63683	0.56591505	0.70837	0.38837197	0.63682	-6.77	0.52336	T	0.29562671411149904	0.39258	0.105	0.19316	B	.	.	3.293239	0.45176	22.1	0.99725836197825146	0.82406	0.83395	0.42515	D	AEFBI	0.288748	0.40056	N	0.604999447689264	0.73488	5.97466	0.538193057281614	0.70579	5.526162	0.999750840240814	0.42595	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.52	5.52	0.82153	1.481000	0.35083	0.089000	0.14491	0.599000	0.40250	1.000000	0.71638	0.905000	0.28034	0.696000	0.34018	0.0:1.0:0.0:0.0	14.951	0.70720	788	0.46569	.	.	.	.	.	.	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	0.02381	742.98	38	chr18	36251234	.	C	G	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.450e-01;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-2.090e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:29,33:62:99:757,0,655	20	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,44:212:99:.:.:169,0,4238	13	0	8	0
chr18	45038580	45038580	G	A	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon5:c.G4096A:p.A1366T	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	347030	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.001	B	0.935	N	1.000	N	0.345	N	-0.38	T	-1.032	T	0.110	T	0.024	-0.814	0.640	-2.48	-0.322	-0.459	3.907	0.048	0.0133647543008	7.7e-05	0.000199681	8.241e-05	9.61e-05	0	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs145549368	2.736e-05	2.736e-05	2.314e-05	3.163e-05	0.0005	2.062e-05	1.816e-05	0.0001	7.541e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0005	2.698e-05	3.312e-05	2.319e-05	7.879e-05	7.875e-05	0.0001	1.343e-05	0.0002	4.493e-05	3.51e-05	4.765e-05	3.339e-05	4.812e-05	0	6.535e-05	0	0.0002	0	0	0.0001	0.0005	0	0.505	0.07619	T	0.668	0.06345	T	0.0	0.02946	B	0.001	0.04355	B	0.934576	0.07556	N	1.031290	1	0.08975	N	0.805	0.20218	L	-0.38	0.69027	T	-0.65	0.18877	N	0.179	0.19325	-1.0315	0.19970	T	0.110	0.39651	T	10	0.01835367	0.00399	T	0.013365	0.32703	T	0.048	0.13305	.	.	0.168254554758	0.16434	0.2857309250584987	0.28486	0.248151614451	0.27372	0.229728460312	0.01948	T	0.187446	0.54105	T	-0.447145	0.01174	T	-0.682426	0.06837	T	0.109886147081852	0.13411	T	0.60234	0.22547	T	0.030328799	0.02677	0.042636145	0.05124	0.04316147	0.06675	0.054120187	0.09247	-3.854	0.21614	T	0.30741666487876085	0.40515	0.075	0.05360	B	.;.	.;.	0.084393	0.04895	1.479	0.278267866036501	0.01400	0.03782	0.09103	N	AEFBI	0.030485	0.03078	N	-1.11516422378852	0.06372	0.2931795	-1.09946848899853	0.07711	0.3761735	0.0175460011089327	0.12963	0.615465	0.37627	0	0.633656	0.55848	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.84	-2.48	0.06052	-0.407000	0.07240	-1.706000	0.04878	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.352000	0.25704	0.3485:0.0761:0.4485:0.1269	3.907	0.08690	829	0.39537	.;.	.	.	.	.	.	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	0.02381	888.98	35	chr18	45038580	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.569;DP=764;ExcessHet=0.0000;FS=6.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=0.585;SOR=0.917	GT:AD:DP:GQ:PL	0/1:31,34:65:99:903,0,755	20	0	1	0
chr18	49792313	49792313	A	T	exonic	ACAA2	.	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.T592A:p.Y198N,	.	.	436	1076	10	0	0	10	0.00462535	.	.	741390	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.001	B	0.022	B	0.003	N	0.983	D	2.04	M	-3.47	D	0.384	D	0.756	D	0.32	0.958	8.907	3.07	0.914	1.290	9.974	0.412	.	7.7e-05	0.00978435	0.0075	0.0002	0.0003	0	0	0.0001	0.0055	0.0540	0.0063195	977	154602	rs149436920	0.0032	0.0032	0.0018	0.0047	0.0515	0.0032	0.0031	0.0503	0.0497	8.967e-05	0.0001	0	0	0	0.0023	4.138e-05	0.0035	0.0515	0.0015	0.0015	0.0008	0.0023	0.0466	0.0014	0.0013	0.0416	0.0397	4.81e-05	0	0.0001	0	0.0002	0	0	2.94e-05	0.0009	0.0466	0.279	0.15561	T	0.278	0.21880	T	0.001	0.07471	B	0.022	0.19653	B	0.002693	0.36102	N	0.338394	0.982977	0.39957	D	1.83	0.48079	L	-3.47	0.94546	D	-2.73	0.58085	D	0.561	0.58798	0.384	0.88849	D	0.756	0.91693	D	10	0.011936933	0.00259	T	.	.	.	0.412	0.72328	.	.	0.961264856787	0.96084	0.7100283675047323	0.70944	0.0714642106299	0.08001	0.35255664587	0.18298	T	0.713606	0.91850	D	-0.262665	0.12591	T	-0.1106	0.62563	T	0.0357932491406695	0.02945	T	0.949505	0.95512	D	0.4810872	0.65966	0.2963661	0.55668	0.4810872	0.65967	0.2963661	0.55667	-5.607	0.42856	T	.	.	0.201	0.46493	B	.;.;.	.;.;.	2.512933	0.32460	19.05	0.87474435527624284	0.17253	0.91058	0.52777	D	AEFBI	0.590402	0.58690	D	-0.192571510914944	0.33443	1.89739	-0.0942136881696004	0.35629	2.063582	0.913324895347477	0.26420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.49	3.07	0.34476	1.299000	0.33028	3.061000	0.36160	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.7987:0.0:0.2013:0.0	9.974	0.40941	963	0.08280	Thiolase, N-terminal;Thiolase, N-terminal;Thiolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1490.11	33	chr18	49792313	.	A	T	1490.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.780e-01;DP=792;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=0.592;SOR=0.708	GT:AD:DP:GQ:PL	0/1:20,22:42:99:610,0,582	19	0	2	0
chr18	54337172	54337172	A	G	exonic	STARD6	.	nonsynonymous SNV	STARD6:NM_139171:exon5:c.T220C:p.W74R,	.	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.625	M	-3.43	D	0.834	D	0.866	D	0.972	2.272	13.55	5.16	2.068	4.194	11.681	0.859	.	0.0028	0.00419329	0.0010	0.0099	0.0006	0.0005	0	3.002e-05	0	0.0001	0.0010284	159	154602	rs111650524	0.0004	0.0004	0.0004	0.0004	0.0117	0.0004	0.0004	0.0108	0.0104	0.0117	0.0008	0	0.0007	0	0.0031	1.709e-05	0.0013	0.0002	0.0030	0.0030	0.0030	0.0029	0.0097	0.0027	0.0026	0.0090	0.0086	0.0097	0	0.0012	0	0.0012	0	0	7.35e-05	0.0066	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000022	0.55875	D	0.000000	0.999192	0.81001	D	2.945	0.84822	M	-3.43	0.94388	D	-12.13	0.99659	D	0.958	0.96758	0.834	0.94831	D	0.866	0.95553	D	10	0.06870741	0.09755	T	.	.	.	0.859	0.95691	0.916	0.98422	0.917705400606	0.91687	0.6438347781030527	0.64318	0.922911507341	0.71528	0.70924192667	0.68484	T	0.405331	0.76153	T	0.146498	0.68939	D	0.444339	0.93433	D	0.102655184151933	0.12646	T	0.371363	0.08780	T	0.88507086	0.90088	0.75520873	0.85533	0.88507086	0.90090	0.75520873	0.85534	-12.383	0.86667	D	.	.	0.973	0.89856	P	.;.	.;.	4.434456	0.68789	25.3	0.99404083435979429	0.62934	0.89129	0.49411	D	AEFDGI	0.381406	0.46368	N	0.58912612894881	0.72497	5.814831	0.490251922322904	0.67341	5.071219	0.297939322112612	0.19158	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	4.568000	0.60573	8.704000	0.78116	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.301000	0.24523	1.0:0.0:0.0:0.0	11.681	0.50719	598	0.68232	START domain|START domain|START domain;START domain|START domain|START 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	0.02381	1301.98	34	chr18	54337172	.	A	G	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.654e+00;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.103;SOR=0.650	GT:AD:DP:GQ:PL	0/1:43,58:101:99:1316,0,1009	20	0	1	0
chr18	54374254	54374254	G	A	exonic	C18orf54	.	nonsynonymous SNV	C18orf54:NM_001288982:exon7:c.G959A:p.S320N	.	.	567	954	1	0	0	1	0.000523834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.004	B	0.006	B	0.168	N	1.000	N	0.69	N	2.2	T	-0.997	T	0.019	T	0.03	1.271	10.15	1.63	0.154	0.365	4.342	0.025	.	0.0034	0.00479233	0.0013	0.0132	0.0007	0.0005	0	4.59e-05	0	0.0007	0.0013325	206	154602	rs113735998	0.0005	0.0005	0.0005	0.0004	0.0131	0.0004	0.0004	0.0121	0.0117	0.0131	0.0009	0	0.0005	0	0.0031	1.823e-05	0.0014	0.0009	0.0036	0.0037	0.0037	0.0036	0.0120	0.0034	0.0033	0.0111	0.0108	0.0120	0	0.0016	0	0.0012	0	0	8.867e-05	0.0071	0.0010	0.676	0.04482	T	0.509	0.10857	T	.	.	.	.	.	.	0.168304	0.17451	N	0.591113	0.999624	0.20843	N	.	.	.	2.2	0.18570	T	0.7	0.04947	N	0.052	0.08227	-0.9973	0.30673	T	0.019	0.07986	T	10	0.0034573674	0.00061	T	.	.	.	0.025	0.05312	.	.	0.0297737177859	0.01360	0.03699264789257866	0.03646	0.0295885830499	0.03039	.	.	.	.	.	.	-0.720788	0.00027	T	-0.798744	0.01934	T	0.00114666826482598	0.00011	T	0.588541	0.22426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.09481	B	.;.;.;.;.	.;.;.;.;.	1.413081	0.18288	13.65	0.68605623515910441	0.08710	0.38424	0.25985	N	AEFGBI	0.061670	0.11805	N	-0.643333730667387	0.17654	0.9103184	-0.479936790461262	0.22707	1.234679	0.982256725285405	0.30373	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.677038	0.66255	0	.	.	5.2	1.63	0.22882	0.226000	0.17557	2.319000	0.32123	-0.172000	0.11096	0.971000	0.34370	1.000000	0.68203	0.996000	0.76049	0.3676:0.1638:0.4686:0.0	4.342	0.10551	580	0.69689	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	323.98	34	chr18	54374254	.	G	A	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.53;ReadPosRankSum=0.135;SOR=0.815	GT:AD:DP:GQ:PL	0/1:23,15:38:99:338,0,545	20	0	1	0
chr18	57661383	57661383	C	T	exonic	ATP8B1	.	nonsynonymous SNV	ATP8B1:NM_001374386:exon21:c.G2348A:p.R783Q	Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	331936	Inborn_genetic_diseases|not_provided|Progressive_familial_intrahepatic_cholestasis_type_1	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.001	B	0.560	N	0.668	D	0.55	N	1.67	T	-1.039	T	0.048	T	0.215	1.117	9.556	4.77	1.383	1.089	7.400	0.079	.	.	0.00199681	0.0015	0	0.0003	0	0	0	0	0.0106	0.0012613	195	154602	rs568134011	0.0007	0.0007	0.0004	0.0009	0.0102	0.0006	0.0006	0.0096	0.0094	0.0001	6.708e-05	0	2.519e-05	0	0.0003	1.079e-05	0.0010	0.0102	0.0004	0.0004	0.0002	0.0005	0.0102	0.0003	0.0003	0.0079	0.0071	0.0001	0	0.0001	0	0	0	0	0	0	0.0102	0.614	0.05404	T	0.604	0.07842	T	0.001	0.07471	B	0.001	0.04355	B	0.560462	0.11341	N	0.821700	0.667994	0.33115	D	-0.895	0.01383	N	1.67	0.27331	T	0.06	0.06253	N	0.18	0.19459	-1.0392	0.17556	T	0.048	0.20592	T	10	0.0024835765	0.00037	T	.	.	.	0.079	0.23065	.	.	0.408036853922	0.40422	0.3071865547992289	0.30631	.	.	0.330294638872	0.14978	T	0.081993	0.36726	T	-0.5934	0.00160	T	-0.615759	0.11521	T	0.0403506969065793	0.03754	T	0.777022	0.40965	T	0.036387164	0.04465	0.03223031	0.01928	0.038056377	0.04996	0.03397887	0.02385	-4.235	0.27255	T	0.11136232017692103	0.09513	0.065	0.01960	B	.;.	.;.	2.199680	0.28057	17.67	0.94642206842230936	0.25241	0.14433	0.18400	N	AEFDGBI	0.085259	0.17283	N	-0.483654026066474	0.22617	1.208873	-0.344790744545005	0.26670	1.474664	0.999994466956406	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.63	4.77	0.60425	0.827000	0.27075	2.684000	0.34038	0.599000	0.40250	0.004000	0.16614	0.965000	0.29475	0.984000	0.60418	0.0:0.7182:0.0:0.2818	7.400	0.26133	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	0.02381	1145.98	33	chr18	57661383	.	C	T	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=782;ExcessHet=0.0000;FS=0.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.227;SOR=0.533	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1160,0,1146	20	0	1	0
chr18	63917505	63917505	A	-	exonic	SERPINB10	.	frameshift deletion	SERPINB10:NM_005024:exon3:c.218delA:p.R76Gfs*7,	.	.	505	1000	17	0	0	17	0.00842836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0293	.	0.0081	0.0051	0.0100	0.0086	0.0055	0.0092	0.0093	0.0057	0.0002305	6	26028	rs779494900	0.0011	0.0039	0.0011	0.0011	0.0016	0.0011	0.0010	0.0013	0.0012	0.0007	0.0016	0.0005	0.0004	0.0002	0.0010	0.0012	0.0009	0.0009	0.0003	0.0003	0.0004	0.0002	0.0006	0.0003	0.0002	0.0005	0.0004	0.0002	0	6.724e-05	0	0	0	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	34.55	31	chr18	63917504	.	GA	G	34.55	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.170e-01;DP=508;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.197;SOR=0.822	GT:AD:DP:GQ:PL	0/1:13,2:15:15:15,0,332	17	0	4	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,16:64:99:0|1:65824683_C_G:122,0,1044:65824683	0	0	20	1
chr18	78994584	78994584	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G2593A:p.V865M,	.	.	418	1083	21	0	0	21	0.00960219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.102	B	0.016	B	0.392	N	1.000	N	0	N	2.92	T	-0.994	T	0.008	T	0.025	-0.533	1.574	-5.98	-1.248	-0.255	8.865	0.040	.	0.0057	0.00499201	0.0063	0.0017	0.0032	0.0001	0.0026	0.0078	0.0024	0.0102	0.0060478	935	154602	rs139777889	0.0077	0.0077	0.0076	0.0077	0.0132	0.0075	0.0075	0.0108	0.0099	0.0011	0.0035	0.0013	2.521e-05	0.0024	0.0132	0.0085	0.0080	0.0091	0.0055	0.0055	0.0055	0.0054	0.0098	0.0051	0.0050	0.0078	0.0076	0.0017	0	0.0064	0.0012	0.0002	0.0027	0	0.0084	0.0048	0.0098	0.084	0.32929	T	0.311	0.24193	T	0.089	0.25085	B	0.007	0.12992	B	0.392044	0.13242	N	0.640689	1	0.08975	N	-0.2	0.04182	N	3.2	0.09915	T	-0.98	0.25986	N	0.071	0.04426	-0.9937	0.31643	T	0.008	0.02926	T	10	0.0037801266	0.00070	T	.	.	.	0.040	0.10527	.	.	0.197625483188	0.19356	0.1434755882111462	0.14270	0.402279318707	0.41185	0.217062205076	0.01147	T	0.013241	0.32070	T	-0.74162	0.00020	T	-0.830243	0.01258	T	0.00211964490454904	0.00022	T	0.756924	0.41972	T	0.03708445	0.04688	0.041662402	0.04785	0.03708445	0.04688	0.041662402	0.04785	-3.798	0.22693	T	.	.	0.086	0.10739	B	.;.;.;.	.;.;.;.	0.712529	0.10815	7.496	0.7338969917002045	0.10310	0.06484	0.12493	N	AEFDBI	0.090973	0.18432	N	-1.39379364265766	0.02696	0.119399	-1.44644555773359	0.02802	0.1295701	0.999381314741562	0.39415	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.49	-5.98	0.02034	-0.235000	0.09031	-0.714000	0.07736	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.5063:0.2986:0.1951:0.0	8.865	0.34439	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1036.98	62	chr18	78994584	.	G	A	1036.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.653;DP=944;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.437;SOR=0.741	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1051,0,1038	20	0	1	0
chr18	79096627	79096627	G	C	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon2:c.G271C:p.G91R	.	.	436	1075	11	0	0	11	0.00509024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.044	B	0.055	B	0.000	D	1.000	D	0.97	L	0.2	T	-1.028	T	0.075	T	0.834	1.645	11.46	4.13	1.212	7.133	15.574	0.251	.	0.0053	0.00279553	0.0036	0.0005	0.0045	0.0001	0.0010	0.0053	0.0024	0.0013	0.003564	551	154602	rs144519079	0.0046	0.0046	0.0048	0.0045	0.0054	0.0045	0.0045	0.0052	0.0051	0.0006	0.0054	0.0067	0	0.0008	0.0052	0.0053	0.0049	0.0010	0.0037	0.0037	0.0038	0.0036	0.0087	0.0035	0.0034	0.0075	0.0070	0.0009	0	0.0087	0.0040	0.0002	0.0012	0.0068	0.0051	0.0066	0.0008	0.105	0.39334	T	0.567	0.15355	T	0.021	0.21686	B	0.01	0.25995	B	0.000145	0.49130	D	0.133676	0.999929	0.51308	D	0.455	0.12820	N	0.2	0.60111	T	-0.72	0.33598	N	0.611	0.66700	-1.0282	0.21038	T	0.075	0.30272	T	10	0.008199632	0.00186	T	.	.	.	0.251	0.56024	.	.	0.681388529596	0.67867	0.7343745236082765	0.73382	0.278618513711	0.30347	0.529201447964	0.42922	T	0.05476	0.41339	T	-0.147162	0.28757	T	0.0237968	0.71876	D	0.0278091546740154	0.01661	T	0.948405	0.80130	D	0.13663392	0.31667	0.10433816	0.25056	0.13663392	0.31666	0.10433816	0.25055	-2.491	0.05720	T	.	.	0.231	0.52639	B	.;.;.;.	.;.;.;.	3.766465	0.54074	23.4	0.99053735340692595	0.51321	0.97268	0.73690	D	AEFGBI	0.718729	0.66984	D	-0.402754952391943	0.25372	1.376839	-0.304849600468498	0.27942	1.554153	0.997609323701015	0.35808	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.03	4.13	0.47661	7.209000	0.77424	9.606000	0.81076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.1384:0.8616:0.0	15.574	0.76101	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	878.98	33	chr18	79096627	.	G	C	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.700e-02;DP=791;ExcessHet=0.0000;FS=0.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=-1.929e+00;SOR=0.840	GT:AD:DP:GQ:PL	0/1:47,41:88:99:893,0,1099	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,18,0,0:31:99:0|1:501743_T_TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC:402,0,217,443,271,714,443,271,714,714:501743	1	10	5	0
chr19	501749	501749	-	ACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCA	exonic	MADCAM1	.	nonframeshift insertion	MADCAM1:NM_130760:exon4:c.748_749insACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCA:p.S261_P262insQEPPNTTSQEPPDTTS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.983e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs764665294	2.309e-05	2.883e-05	1.668e-05	2.96e-05	0.0003	1.647e-05	1.449e-05	0.0002	0.0002	0	2.373e-05	0	0	0	0	3.653e-06	1.704e-05	0.0003	1.366e-05	2.012e-05	1.334e-05	1.401e-05	1.51e-05	2.27e-06	8.5e-07	.	.	0	0	0	0	0	0	0	1.51e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	316.94	90	chr19	501749	.	G	GACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCA	316.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-02;DP=1716;ExcessHet=0.0000;FS=2.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.05;MQRankSum=-1.506e+00;QD=7.73;ReadPosRankSum=-1.153e+00;SOR=1.292	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,19:41:99:1|0:501743_T_TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC:331,0,484:501743	20	0	1	0
chr19	1486906	1486906	C	T	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon8:c.G1015A:p.A339T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	U	0.908	D	1.49	L	-2.28	D	0.440	D	0.671	D	0.249	3.502	17.90	2.71	1.221	0.355	9.573	0.464	0.39727811308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226103603	1.035e-05	1.368e-05	9.616e-06	1.109e-05	0.0005	6.21e-06	4.93e-06	0.0001	7.845e-05	0	0	0	0	0	0.0005	9.894e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.044	0.49663	D	1.0	0.90584	D	0.993	0.81110	D	0.000155	0.49130	U	0.000000	0.908117	0.36340	D	1.84	0.48285	L	-2.28	0.87512	D	-1.78	0.42001	N	0.438	0.47672	0.440	0.89693	D	0.671	0.88613	D	10	0.52542615	0.62881	D	0.397278	0.93320	D	0.464	0.76023	0.692	0.82938	0.81841434032	0.81670	0.7326781387279139	0.73212	0.698221793402	0.60958	0.564035892487	0.47837	T	0.139233	0.47315	T	0.0100071	0.53026	T	-0.223402	0.52408	T	0.798382937908173	0.46244	D	0.886711	0.61387	D	0.37792188	0.59165	0.32379535	0.58309	0.37792188	0.59166	0.32379535	0.58308	-7.947	0.60708	D	.	.	0.222	0.45359	B	.	.	4.211275	0.63621	24.6	0.99880793128740053	0.95733	0.13127	0.17678	N	AEFDBI	0.039317	0.05693	N	0.0566395154216379	0.44448	2.718711	-0.0765988019951697	0.36361	2.115029	0.0258453269683106	0.13674	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	2.71	2.71	0.31092	0.354000	0.19885	1.604000	0.27599	0.456000	0.21511	0.031000	0.20493	0.889000	0.27805	0.924000	0.46004	0.0:0.7829:0.2171:0.0	9.573	0.38603	970	0.06235	Peptidase S8/S53 domain|Kexin/furin catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	934.98	33	chr19	1486906	.	C	T	934.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=795;ExcessHet=0.0000;FS=10.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-7.600e-02;SOR=2.021	GT:AD:DP:GQ:PL	0/1:35,35:70:99:949,0,848	20	0	1	0
chr19	1818538	1818538	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon10:c.G2960A:p.R987H,	.	.	.	.	.	.	.	.	.	.	.	3316054	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.293	B	0.034	B	0.001	N	0.852	N	0.695	N	2.69	T	-1.066	T	0.019	T	0.255	2.059	12.84	3.6	2.419	0.204	8.580	0.019	0.021962320781	.	.	5.05e-05	0.0004	0	0	0	3.643e-05	0	0	3.23e-05	5	154602	rs748224350	1.233e-05	1.436e-05	9.542e-06	1.515e-05	8.968e-05	7.71e-06	6.36e-06	2.376e-05	1.258e-05	8.968e-05	6.729e-05	0	0	0	0	6.297e-06	3.316e-05	3.486e-05	9.197e-05	9.193e-05	8.989e-05	9.414e-05	0.0003	5.526e-05	4.364e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0.0002	0.197	0.20607	T	0.173	0.30143	T	0.293	0.32367	B	0.034	0.22546	B	0.001163	0.39978	N	0.272306	0.851644	0.28487	N	1.665	0.42610	L	2.69	0.12268	T	-1.7	0.40468	N	0.346	0.38746	-1.0656	0.10409	T	0.019	0.08126	T	10	0.11504695	0.21663	T	0.021962	0.44796	T	0.019	0.03383	.	.	0.143184338766	0.13958	0.346943627692041	0.34608	0.152168020446	0.17166	0.41922467947	0.27730	T	0.029688	0.21214	T	-0.417801	0.01767	T	-0.558483	0.16519	T	0.12398611754179	0.14815	T	0.860814	0.55431	D	0.057932038	0.11592	0.048679885	0.07283	0.057932038	0.11592	0.048679885	0.07282	-6.653	0.51456	T	.	.	0.073	0.04558	B	.;.	.;.	3.802827	0.54800	23.5	0.99754068120441264	0.84537	0.64603	0.32461	D	AEFDGBI	0.139361	0.26093	N	-0.268030281571043	0.30390	1.694083	-0.135428441150509	0.33973	1.949142	0.00195003503165866	0.09028	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.69	3.6	0.40374	0.408000	0.20787	2.602000	0.33527	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.127000	0.19450	0.0:0.814:0.0:0.186	8.580	0.32781	952	0.10565	.;.	.	.	.	.	.	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	0.02381	343.98	35	chr19	1818538	.	C	T	343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.19;ReadPosRankSum=1.59;SOR=0.853	GT:AD:DP:GQ:PL	0/1:27,15:42:99:358,0,630	20	0	1	0
chr19	3186073	3186073	G	T	exonic	NCLN	.	nonsynonymous SNV	NCLN:NM_001321463:exon1:c.G43T:p.A15S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.11	B	0.02	B	0.034	N	1.000	D	0.695	N	1.46	T	-1.060	T	0.046	T	0.124	2.781	15.26	4.24	1.916	3.014	15.220	0.054	0.279738111072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917e-07	4.788e-06	1.377e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.07895	T	0.678	0.08217	T	0.11	0.26188	B	0.02	0.19048	B	0.034315	0.24786	N	0.436377	0.82662	0.81001	D	1.61	0.41143	L	1.46	0.44856	T	-0.29	0.11728	N	0.084	0.06059	-1.0598	0.11805	T	0.046	0.19879	T	10	0.1274347	0.24234	T	0.279738	0.90187	D	0.054	0.15330	0.327	0.31034	0.303871581278	0.30001	0.5741084088332593	0.57339	0.472526826002	0.46490	0.802453279495	0.82337	T	0.015568	0.13030	T	-0.216637	0.18455	T	-0.54896	0.17426	T	0.66625589132309	0.39171	D	0.746025	0.37284	T	0.10892544	0.25753	0.07238618	0.15610	0.10892544	0.25753	0.07238618	0.15610	-3.003	0.10213	T	.	.	0.096	0.16231	B	.;.	.;.	2.814355	0.37057	20.4	0.98410078634484321	0.41169	0.55956	0.29994	D	ALL	0.202576	0.32915	N	-0.292614408228568	0.29432	1.632125	-0.11604396704568	0.34743	2.001954	0.999999999999926	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.24	4.24	0.49486	2.511000	0.45137	11.161000	0.87651	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	15.220	0.72990	987	0.02648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	533.98	36	chr19	3186073	.	G	T	533.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.610e-01;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.192;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,28:80:99:0|1:3186073_G_T:548,0,2019:3186073	20	0	1	0
chr19	4510571	4510571	C	A	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G3389T:p.G1130V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.982	D	0.781	P	0.446	N	1.000	N	0.695	N	3.68	T	-0.978	T	0.021	T	0.23	1.399	10.61	1.54	0.109	-0.785	6.215	0.041	0.0225427945348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.2	0.28120	T	0.982	0.60036	D	0.781	0.57337	P	0.446490	0.04790	N	1.488490	1	0.08975	N	0.75	0.19020	N	3.68	0.04151	T	-1.61	0.38734	N	0.175	0.19728	-0.9784	0.35368	T	0.021	0.08917	T	10	0.14043462	0.26695	T	0.022543	0.45438	T	0.041	0.10877	0.391	0.41443	0.197625483188	0.19356	0.19235544813659036	0.19153	.	.	0.23962546885	0.02757	T	0.047518	0.27747	T	-0.285174	0.10127	T	-0.647409	0.09137	T	0.103620253503323	0.12751	T	0.40486	0.10377	T	0.0697553	0.15308	0.08512944	0.19634	0.0697553	0.15307	0.08512944	0.19633	-4.161	0.26185	T	.	.	0.096	0.15430	B	.;.	.;.	1.128916	0.15156	11.63	0.93941573488969288	0.23997	0.04794	0.10511	N	AEFDBCI	0.038983	0.05596	N	-0.654379634604724	0.17333	0.8910067	-0.839543804959705	0.13539	0.7029028	9.74886565965821E-4	0.08079	0.582742	0.33608	0	0.759151	0.99529	0	0.61531	0.40942	0	0.645665	0.59343	0	.	.	3.85	1.54	0.22290	-0.429000	0.07051	0.123000	0.14943	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2048:0.5773:0.2179:0.0	6.215	0.19864	946	0.12043	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1313.98	104	chr19	4510571	.	C	A	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=1469;ExcessHet=0.0000;FS=3.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.682e+00;SOR=1.144	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1328,0,1149	20	0	1	0
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,183,0:183:99:.:.:5868,548,0,6199,557,7142	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,58,0:91:99:0|1:4511713_T_C:2127,0,211,2238,227,2542:4511713	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,47:80:99:0|1:4511713_T_C:1851,1929,2109,0,219,244:4511713	0	0	0	8
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S,	.	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.992	D	0.979	D	.	.	.	.	.	.	4.69	T	-1.012	T	0.008	T	0.059	-1.220	0.063	0.949	-0.089	-0.973	3.025	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1562	122.45	92	chr19	8888076	.	G	A	122.45	.	AC=5;AF=0.156;AN=32;BaseQRankSum=3.74;DP=1860;ExcessHet=1.1607;FS=1.103;InbreedingCoeff=-0.2118;MLEAC=5;MLEAF=0.156;MQ=59.49;MQRankSum=-7.474e+00;QD=0.28;ReadPosRankSum=-6.410e-01;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,5:69:14:0|1:8888067_C_T:14,0,2652:8888067	11	0	5	5
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	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	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,79:422:99:0|1:8888803_G_A:2086,0,13521:8888803	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:187,72,75,30:375:99:.:.:2439,0,7929,310,5484,8194,1838,6961,7178,10326	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,61,50:339:99:0|1:8888826_T_*:1875,0,9390,462,7474,9885:8888826	1	0	19	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	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	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	.	.	.	.	.	.	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	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,18:213:99:0|1:8900009_C_T:169,0,8087:8900009	8	0	13	0
chr19	8917566	8917566	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon11:c.A36550G:p.N12184D,	.	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.007	B	.	.	.	.	-1.085	N	2.06	T	-0.978	T	0.016	T	0.086	-0.256	2.768	-4.26	-0.921	-2.715	8.417	0.029	0.00193798574319	.	.	4.976e-05	0.0001	8.645e-05	0	0	6.004e-05	0	0	3.84e-05	1	26028	rs199790313	3.464e-06	0.0014	1.379e-06	5.569e-06	5.821e-05	1.02e-06	7.4e-07	2.201e-05	1.435e-05	0	0	0	0	0	0	0	0	5.821e-05	0.0006	0.0098	0.0004	0.0008	0.0009	0.0005	0.0004	0.0006	0.0005	0.0008	0.0029	0.0008	0	0	0.0012	0	0.0003	0	0.0009	0.139	0.25768	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.08	0.47514	N	0.105	0.08925	-0.9776	0.35548	T	0.016	0.06711	T	8	0.030176371	0.01144	T	0.001938	0.03456	T	0.029	0.06676	.	.	0.0401082797425	0.02173	0.10613363802940573	0.10543	.	.	0.298253029585	0.10141	T	.	.	.	-0.370209	0.03583	T	-0.769556	0.02782	T	0.0492777268444781	0.05374	T	0.0440956	0.00310	T	.	.	.	.	.	.	.	.	-6.438	0.49806	T	.	.	0.089	0.12181	B	.	.	-0.069432	0.03828	0.818	0.33870174248800455	0.02041	0.00318	0.01673	N	AEFDBI	0.021842	0.01021	N	-1.60041054993729	0.01262	0.05493047	-1.63340953564936	0.01464	0.06622554	1.04807821186581E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.66	-4.26	0.03497	-3.333000	0.00563	.	.	-0.274000	0.06627	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2653:0.0:0.7347	8.417	0.31836	934	0.15400	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	39.33	78	chr19	8917566	.	T	C	39.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.07;DP=1769;ExcessHet=0.0000;FS=13.707;InbreedingCoeff=-0.0371;MLEAC=1;MLEAF=0.025;MQ=59.52;MQRankSum=-1.143e+01;QD=0.30;ReadPosRankSum=-3.360e+00;SOR=2.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,10:132:53:0|1:8917566_T_C:53,0,5072:8917566	19	0	1	1
chr19	8947821	8947821	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C28949T:p.T9650I,	.	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.995	D	0.961	D	.	.	.	.	0.895	L	4.28	T	-1.004	T	0.017	T	0.119	0.075	4.408	1.51	0.632	0.545	7.227	0.041	0.000596836674538	.	0.000399361	0.0002	0	0.0002	0	0	8.994e-05	0	0.0012	0.000194	30	154602	rs545014054	0.0001	0.0001	8.441e-05	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0003	0	0	0	0.0031	2.968e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.715e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0.0034	5.88e-05	0	0.0017	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-4.5	0.78135	D	0.049	0.02088	-1.0045	0.28607	T	0.017	0.06759	T	8	0.018210888	0.00394	T	5.97E-4	0.00274	T	0.041	0.10877	0.24	0.17218	0.0762999501168	0.06990	0.11891972679479476	0.11818	.	.	0.248697668314	0.03632	T	.	.	.	-0.586976	0.00175	T	-0.666367	0.07843	T	0.113970879381483	0.13830	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-6.384	0.49384	T	.	.	0.206	0.43186	B	.	.	0.365561	0.07381	4.004	0.29873056108307561	0.01606	0.03797	0.09124	N	AEFBI	0.022161	0.01074	N	-0.386801544564827	0.25938	1.411843	-0.624394547801181	0.18867	1.009798	1.50795423718389E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.61	1.51	0.22094	0.159000	0.16258	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2776:0.7224:0.0	7.227	0.25195	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2570.98	93	chr19	8947821	.	G	A	2570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=2408;ExcessHet=0.0000;FS=0.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.664;SOR=0.768	GT:AD:DP:GQ:PL	0/1:121,99:220:99:2585,0,3039	20	0	1	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G	Immunodeficiency 35, Autosomal recessive	.	1	1402	108	11	0	130	0.0443081	.	.	468200	not_specified|Immunodeficiency_35	MedGen:CN169374|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.006	B	0.540	N	1.000	N	0.565	N	-1.71	D	-1.009	T	0.090	T	0.297	1.773	11.89	5.68	2.161	2.310	13.877	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9296.9	33	chr19	10350910	.	T	C	9296.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.500e-02;DP=1162;ExcessHet=0.0082;FS=0.543;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=0.327;SOR=0.647	GT:AD:DP:GQ:PL	0/1:98,71:169:99:1781,0,2555	18	1	2	0
chr19	10986422	10986422	C	T	exonic	SMARCA4	.	nonsynonymous SNV	SMARCA4:NM_001128845:exon3:c.C589T:p.P197S	Coffin-Siris syndrome 4, Autosomal dominant	.	0	1497	24	1	0	26	0.00860927	.	.	138990	not_specified|Intellectual_disability,_autosomal_dominant_16|Hereditary_cancer-predisposing_syndrome|Rhabdoid_tumor_predisposition_syndrome_2|not_provided|Coffin-Siris_syndrome	MedGen:CN169374|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MedGen:C3661900|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.997	D	0.992	D	0.000	D	1.000	D	1.18	L	-2.35	D	0.313	D	0.708	D	0.568	4.095	21.1	4.32	2.244	7.510	15.759	0.653	.	0.0009	0.00139776	0.0057	0.0003	0.0014	0	0.0231	0.0049	0.0081	0.0096	0.0021733	336	154602	rs200664441	0.0019	0.0020	0.0018	0.0021	0.0072	0.0019	0.0019	0.0067	0.0065	3.049e-05	0.0002	0.0007	0	0.0101	0.0047	0.0014	0.0017	0.0072	0.0019	0.0019	0.0014	0.0025	0.0054	0.0017	0.0017	0.0038	0.0032	0.0002	0	0.0003	0.0003	0.0002	0.0113	0	0.0019	0.0009	0.0054	0.178	0.22138	T	0.357	0.19845	T	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.01	0.25309	L	-2.37	0.88220	D	-2.54	0.55025	D	0.776	0.77413	0.313	0.87761	D	0.708	0.89947	D	10	0.008630902	0.00196	T	.	.	.	0.653	0.86936	.	.	0.657837784098	0.65497	0.6235723534144302	0.62290	0.913241329037	0.71139	0.714207053185	0.69203	T	0.675847	0.90428	D	-0.201606	0.20572	T	-0.0585044	0.66437	T	0.0357437925679412	0.02936	T	0.970203	0.89274	D	0.13477674	0.31302	0.16040199	0.37361	0.15440038	0.34949	0.16865475	0.38840	-10.812	0.78616	D	0.23241403128316984	0.31457	0.496	0.71937	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.208073	0.63548	24.6	0.9989858992289542	0.97124	0.98040	0.79094	D	AEFDBHCI	0.912643	0.87356	D	0.50929276600967	0.67637	5.108343	0.495885789513639	0.67717	5.121527	0.999999999802393	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.830000	0.84907	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:1.0:0.0:0.0	15.759	0.77828	508	0.75398	Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ	.	.	.	.	.	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	0.04762	2774.11	39	chr19	10986422	.	C	T	2774.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=958;ExcessHet=0.1072;FS=0.963;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.138;SOR=0.767	GT:AD:DP:GQ:PL	0/1:74,47:121:99:1105,0,1756	19	0	2	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/2:43,0,39:82:99:1464,1593,3296,0,1703,1584	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,60,0:128:99:0|1:12430718_C_A:2303,0,2673,2507,2854,5361:12430718	5	4	10	0
chr19	12676023	12676023	G	A	exonic	DHPS	.	nonsynonymous SNV	DHPS:NM_001369691:exon8:c.C944T:p.P315L,	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	3.324e-05	9.66e-05	0	0	0	3.018e-05	0	6.227e-05	2.59e-05	4	154602	rs150173480	1.71e-05	1.71e-05	1.634e-05	1.788e-05	2.987e-05	1.174e-05	9.92e-06	1.295e-05	1.106e-05	2.987e-05	0	0	0	0	0	1.979e-05	0	2.32e-05	1.972e-05	1.97e-05	0	4.036e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	1	0.02381	1143.98	34	chr19	12676023	.	G	A	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=850;ExcessHet=0.0000;FS=1.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=-3.780e-01;SOR=0.529	GT:AD:DP:GQ:PL	0/1:70,45:115:99:1158,0,1838	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,8,0,0,0,0,0:21:99:.:.:297,0,517,336,542,878,336,542,878,878,336,542,878,878,878,336,542,878,878,878,878,336,542,878,878,878,878,878	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,8,0,0,0,0,0:21:99:.:.:297,0,517,336,542,878,336,542,878,878,336,542,878,878,878,336,542,878,878,878,878,336,542,878,878,878,878,878	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,8,0,0,0,0,0:21:99:.:.:297,0,517,336,542,878,336,542,878,878,336,542,878,878,878,336,542,878,878,878,878,336,542,878,878,878,878,878	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,8,0,0,0,0,0:21:99:.:.:297,0,517,336,542,878,336,542,878,878,336,542,878,878,878,336,542,878,878,878,878,336,542,878,878,878,878,878	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,8,0,0,0,0,0:21:99:.:.:297,0,517,336,542,878,336,542,878,878,336,542,878,878,878,336,542,878,878,878,878,336,542,878,878,878,878,878	2	3	6	0
chr19	13208815	13208815	G	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon46:c.C6724T:p.R2242W	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	37	1483	2	0	0	2	0.000673854	.	.	647724	CACNA1A-related_disorder|Developmental_and_epileptic_encephalopathy,_42|Episodic_ataxia_type_2|not_provided	.|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.972	D	0.658	U	1.000	N	1.39	L	-3.88	D	0.295	D	0.870	D	0.324	2.116	13.03	1.52	0.651	0.438	9.006	0.467	0.763836811524	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760428308	7.878e-06	8.893e-06	7.086e-06	8.688e-06	2.704e-05	4.23e-06	3.09e-06	3.9e-06	2.82e-06	0	2.704e-05	0	0	0	0	8.278e-06	1.718e-05	0	6.582e-06	6.57e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.022	0.48642	D	0.026	0.56192	D	.	.	.	.	.	.	0.657997	0.05962	U	1.312740	0.995167	0.23357	N	2.32	0.66415	M	-3.88	0.97394	D	-3.67	0.70191	D	0.353	0.39962	0.295	0.87479	D	0.870	0.95677	D	10	0.7006326	0.72421	D	0.763837	0.98127	D	0.467	0.76222	0.304	0.27325	0.887781409754	0.88668	0.28405105164845756	0.28318	0.825720942332	0.67392	0.912779211998	0.97727	D	0.066841	0.33711	T	0.121	0.66471	D	-0.0577053	0.66493	T	0.936755418777466	0.60600	D	0.954605	0.84807	D	0.091813214	0.21525	0.114023216	0.27522	0.091813214	0.21525	0.114023216	0.27521	-6.751	0.52989	T	0.2716427936174184	0.36535	0.237	0.49304	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.552681	0.49947	22.9	0.9947149547208668	0.66365	0.65035	0.32603	D	AEFDGBHCI	0.612890	0.60079	D	0.051676088637897	0.44219	2.700024	-0.0357304530319911	0.38114	2.240936	0.999999984823797	0.74766	0.700653	0.57754	0	0.218748	0.04544	0	0.717052	0.78885	0	0.554799	0.18163	0	.	.	3.92	1.52	0.22158	0.242000	0.17862	2.340000	0.32248	-0.423000	0.05224	0.586000	0.27634	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.4675:0.5325	9.006	0.35273	818	0.41518	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	107.98	45	chr19	13208815	.	G	A	107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.20;ReadPosRankSum=2.15;SOR=0.892	GT:AD:DP:GQ:PL	0/1:10,5:15:99:122,0,200	20	0	1	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	0/1:29,13,0:42:99:436,0,1182,528,1221,1749	9	4	7	0
chr19	15192493	15192493	C	T	exonic	NOTCH3	.	nonsynonymous SNV	NOTCH3:NM_000435:exon3:c.G224A:p.R75Q,	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Autosomal dominant;Lateral meningocele syndrome, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	704811	Cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy|not_provided	MONDO:MONDO:0007432,MedGen:C0751587,OMIM:PS125310|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.29	T	0.964	D	0.603	P	.	.	0.979	N	1.3	L	-4.97	D	0.534	D	0.881	D	0.319	3.337	17.23	5.13	2.405	2.065	6.845	0.421	0.154130498894	0.0002	.	0.0005	0.0002	0	0.0029	0	3.263e-05	0	0.0012	0.0002264	35	154602	rs145069047	8.77e-05	9.166e-05	7.959e-05	9.593e-05	0.0013	7.491e-05	7.035e-05	0.0010	0.0009	0.0002	0	0	0.0013	0	0	8.135e-06	0.0002	0.0006	6.574e-05	6.564e-05	6.432e-05	6.724e-05	0.0012	3.518e-05	2.618e-05	0.0005	0.0003	7.226e-05	0	0	0	0.0012	0	0	1.471e-05	0	0	0.203	0.20154	T	0.283	0.21545	T	0.964	0.55854	D	0.603	0.50895	P	.	.	.	.	0.979448	0.25181	N	1.8	0.47472	L	-4.97	0.98468	D	-1.4	0.34596	N	0.109	0.09490	0.534	0.91017	D	0.881	0.96042	D	9	0.047407836	0.04056	T	0.15413	0.83528	D	0.421	0.73005	.	.	0.991323386047	0.99123	0.5561037590159307	0.55537	0.932308733551	0.71878	0.394392371178	0.24286	T	0.363627	0.72934	T	-0.20219	0.20489	T	-0.0764379	0.65164	T	0.0411022553981667	0.03891	T	0.134887	0.02245	T	0.1715401	0.37793	0.11975049	0.28901	0.1715401	0.37793	0.11975049	0.28901	-6.194	0.47874	T	.	.	0.091	0.13503	B	.;.	.;.	3.154301	0.42713	21.6	0.99934192355856233	0.99535	0.50730	0.28731	D	AEFDBI	0.190567	0.31779	N	0.126027497070115	0.47679	2.990302	0.14486876185166	0.46872	2.926081	0.912463521255651	0.26396	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	0.214000	0.17331	.	.	0.596000	0.33519	0.000000	0.06391	0.103000	0.22699	0.707000	0.34357	0.1763:0.7354:0.0:0.0883	6.845	0.23165	929	0.16858	EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1099.98	37	chr19	15192493	.	C	T	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.520;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=0.188;SOR=0.704	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1114,0,671	20	0	1	0
chr19	15624072	15624072	C	G	exonic	CYP4F8	.	nonsynonymous SNV	CYP4F8:NM_007253:exon9:c.C1093G:p.R365G,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.998	D	0.988	D	0.000	U	0.985	D	.	.	.	.	-0.561	T	0.252	T	0.06	0.417	6.268	2.06	0.504	0.916	3.679	0.274	.	7.7e-05	0.000798722	0.0006	0	0.0002	0	0	5.998e-05	0.0011	0.0036	0.0004657	72	154602	rs370903597	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	5.974e-05	4.472e-05	0	0	0	0.0002	1.529e-05	0.0002	0.0033	0.0001	0.0001	8.996e-05	0.0001	0.0029	7.574e-05	6.279e-05	0.0018	0.0014	0	0	6.538e-05	0	0	0	0	4.411e-05	0	0.0029	.	.	.	0.175	0.29945	T	0.998	0.73220	D	0.988	0.77976	D	0.000344	0.45440	U	0.082502	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.45992	-0.5606	0.66381	T	0.252	0.62189	T	7	0.010400295	0.00232	T	.	.	.	.	.	.	.	0.408307896497	0.40449	0.5709341853894667	0.57021	.	.	0.42161861062	0.28060	T	0.168691	0.51579	T	-0.45848	0.01005	T	-0.433457	0.29544	T	0.150556966662407	0.17148	T	0.759724	0.38410	T	0.17579539	0.38457	0.18966629	0.42326	0.17579539	0.38457	0.18966629	0.42325	-9.904	0.73334	D	.	.	0.132	0.28578	B	.	.	3.341473	0.46043	22.2	0.96699160039821674	0.30766	0.09509	0.15249	N	AEFBCI	.	.	.	-0.0679040349027641	0.38806	2.278572	-0.196747287260236	0.31655	1.793548	2.63094468161319E-5	0.03498	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.057018	0.00518	0	0.130854	0.25793	3.11	2.06	0.25932	0.734000	0.25769	.	.	-0.995000	0.01833	0.571000	0.27513	0.005000	0.19230	0.076000	0.17014	0.2415:0.6223:0.0:0.1362	3.679	0.07836	917	0.20147	.	.	.	.	.	.	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	0.02381	2213.98	34	chr19	15624072	.	C	G	2213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=941;ExcessHet=0.0000;FS=5.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-5.700e-02;SOR=1.023	GT:AD:DP:GQ:PL	0/1:136,97:233:99:2228,0,3374	20	0	1	0
chr19	16789119	16789119	G	A	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon12:c.G2251A:p.A751T	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.310	N	1.000	N	-0.695	N	3.5	T	-1.014	T	0.053	T	0.062	-0.625	1.227	-6.55	-1.439	-0.102	9.766	0.020	0.0046974923951	7.7e-05	.	0.0003	9.614e-05	8.648e-05	0.0022	0	0.0001	0	0.0001	0.0002264	35	154602	rs145720941	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0005	0.0005	0.0003	0.0001	0.0001	0.0008	1.872e-05	0.0002	0.0001	0.0002	6.957e-05	0.0001	0.0001	0.0001	8.061e-05	0.0004	7.089e-05	5.745e-05	6.835e-05	4.289e-05	0.0001	0	0	0.0003	0.0004	0	0	0.0001	0	0	0.735	0.05517	T	0.605	0.07816	T	0.0	0.02946	B	0.001	0.04355	B	0.310209	0.04010	N	1.427560	1	0.08975	N	-1.555	0.00461	N	0.36	0.57880	T	1.27	0.00985	N	0.042	0.03613	-1.0139	0.25688	T	0.053	0.22578	T	10	0.0072591007	0.00165	T	0.004697	0.11691	T	0.020	0.03691	.	.	0.0401082797425	0.02173	0.08236045335677641	0.08171	0.138311207975	0.15596	0.234597116709	0.02325	T	2.43E-4	0.00052	T	-0.640263	0.00083	T	-0.699734	0.05840	T	0.010304745778817	0.00140	T	0.262774	0.04781	T	0.019248711	0.00452	0.044793397	0.05882	0.019248711	0.00451	0.044793397	0.05882	-3.643	0.20044	T	.	.	0.062	0.02173	B	.;.;.;.	.;.;.;.	0.009541	0.04347	1.111	0.19046870071818095	0.00626	0.00804	0.03270	N	AEFBCI	0.016710	0.00393	N	-1.67866390103564	0.00920	0.03984284	-1.69740859665427	0.01149	0.05167686	0.957041932069207	0.28281	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.35	-6.55	0.01686	-0.120000	0.10633	-0.147000	0.11458	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1898:0.5872:0.2229:0.0	9.766	0.39730	906	0.23090	.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	851.98	41	chr19	16789119	.	G	A	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.256e+00;DP=858;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-5.650e-01;SOR=0.967	GT:AD:DP:GQ:PL	0/1:25,36:61:99:866,0,596	20	0	1	0
chr19	16797816	16797816	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon15:c.T2771C:p.M924T	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.001	B	0.884	N	1.000	N	-0.345	N	2.29	T	-1.032	T	0.094	T	0.059	-3.006	0.001	-4.2	-0.961	-1.489	6.891	0.008	0.00725000561524	.	0.000599042	0.0006	0.0003	0.0004	0	0	1.499e-05	0	0.0041	0.0005304	82	154602	rs553266612	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	1.872e-05	0.0009	1.619e-05	0.0002	0.0050	0.0001	0.0001	8.997e-05	0.0002	0.0029	9.147e-05	7.703e-05	0.0018	0.0014	2.407e-05	0	0	0	0	0.0002	0	5.882e-05	0	0.0029	0.359	0.26300	T	0.701	0.05727	T	0.0	0.02946	B	0.001	0.04355	B	0.883775	0.07252	N	1.060550	1	0.08975	N	0.3	0.10203	N	-0.07	0.69287	T	-0.94	0.29727	N	0.119	0.14763	-1.0315	0.19970	T	0.094	0.35578	T	10	0.012894243	0.00275	T	0.00725	0.19225	T	0.008	0.00669	.	.	0.0401082797425	0.02173	0.08766706640307438	0.08699	0.165706254404	0.18694	0.212731987238	0.00932	T	0.002247	0.01642	T	-0.62676	0.00100	T	-0.673594	0.07380	T	0.0518579699847396	0.05824	T	0.330567	0.06954	T	0.066297926	0.14250	0.084085986	0.19317	0.066297926	0.14250	0.084085986	0.19316	-1.994	0.03392	T	.	.	0.053	0.00264	B	.;.;.;.	.;.;.;.	-1.547755	0.00268	0.004	0.17296186997595203	0.00498	0.00539	0.02485	N	AEFBI	0.022315	0.01100	N	-1.76025689088475	0.00650	0.02803572	-1.77322890916388	0.00849	0.03792717	0.0191079249523579	0.13129	0.500041	0.20204	0	0.573888	0.26702	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	4.62	-4.2	0.03562	-1.680000	0.02040	-4.869000	0.01949	-1.111000	0.01491	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3061:0.13:0.5639	6.891	0.23409	917	0.20147	.;WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1316.98	36	chr19	16797816	.	T	C	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=848;ExcessHet=0.0000;FS=3.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=0.00;SOR=0.461	GT:AD:DP:GQ:PL	0/1:85,55:140:99:1331,0,2079	20	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:21,3,15:39:99:.:.:540,391,1346,0,731,906	12	0	0	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:21,0,15:39:99:.:.:540,580,1513,0,909,906	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,15,0,0:39:99:.:.:540,0,906,580,909,1513,580,909,1513,1513	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,15,0,0:39:99:.:.:540,0,906,580,909,1513,580,909,1513,1513	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,18,16:34:99:.:.:1165,503,736,713,0,991	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,34,0:34:99:.:.:1850,129,0,1580,133,1703	0	10	3	0
chr19	17455656	17455656	C	-	exonic	NXNL1	.	frameshift deletion	NXNL1:NM_138454:exon2:c.630delG:p.L211Cfs*53,	.	.	600	920	2	0	0	2	0.00108578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0	0.0096	0	0	0	0.0125	0.0073	3.84e-05	1	26028	rs748149169	0.0006	0.0006	0.0004	0.0009	0.0066	0.0006	0.0006	0.0043	0.0041	4.838e-05	6.316e-05	9.912e-05	0	0	0.0066	0.0003	0.0005	0.0047	0.0003	0.0003	0.0001	0.0004	0.0051	0.0002	0.0002	0.0035	0.0030	4.853e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	313.94	20	chr19	17455655	.	GC	G	313.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.760e-01;DP=478;ExcessHet=0.0000;FS=1.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=1.69;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,12:18:99:328,0,137	20	0	1	0
chr19	19193966	19193966	C	T	exonic	RFXANK	.	nonsynonymous SNV	RFXANK:NM_001278728:exon2:c.C20T:p.A7V	MHC class II deficiency, complementation group B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.073	B	0.107	B	0.640	N	1.000	N	0.345	N	1.44	T	-0.992	T	0.106	T	0.349	1.254	10.08	1.2	0.062	0.414	7.194	0.049	0.0379397670374	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183893593	2.052e-06	2.052e-06	0	4.125e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51853	D	0.0	0.92824	D	0.044	0.21686	B	0.03	0.21741	B	0.639866	0.10609	N	0.822329	1	0.08975	N	0.46	0.12951	N	-0.03	0.77964	T	-3.49	0.68056	D	0.231	0.25989	-0.9915	0.32218	T	0.106	0.38709	T	10	0.0800347	0.12945	T	0.03794	0.57921	D	0.049	0.13647	0.352	0.35084	0.678942522897	0.67621	0.3824666032446265	0.38161	0.25158685093	0.27740	0.363016009331	0.19825	T	0.080358	0.36344	T	-0.0964111	0.37019	T	-0.293399	0.45418	T	0.0634587827736338	0.07702	T	0.755224	0.37818	T	0.054873414	0.10589	0.06699215	0.13798	0.054873414	0.10588	0.06699215	0.13798	-4.393	0.29462	T	.	.	0.092	0.22789	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.891201	0.24020	16.24	0.99082398968648966	0.52002	0.05769	0.11701	N	AEFBH	0.100947	0.20287	N	-1.14149808720346	0.05920	0.2712259	-1.12346398727549	0.07253	0.3521336	0.999497225216378	0.40007	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	4.58	1.2	0.20181	0.152000	0.16120	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.443000	0.27738	0.0:0.7196:0.0:0.2804	7.194	0.25018	725	0.54935	.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	648.98	36	chr19	19193966	.	C	T	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=749;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.523;SOR=0.698	GT:AD:DP:GQ:PL	0/1:29,26:55:99:663,0,751	20	0	1	0
chr19	19545520	19545520	A	G	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.A2975G:p.E992G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.11	M	2.8	T	-1.124	T	0.081	T	0.912	3.043	16.15	5.79	2.224	9.097	14.112	0.535	0.143848334869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.265	0.64440	M	2.8	0.11082	T	-6.53	0.91741	D	0.901	0.90138	-1.1239	0.02099	T	0.081	0.31884	T	10	0.85572445	0.84768	D	0.143848	0.82615	D	0.535	0.80486	0.471	0.54537	0.52468985305	0.52114	0.9132987788700442	0.91303	1.25182992795	0.81823	0.696289420128	0.66609	T	0.540031	0.84234	D	0.239585	0.77623	D	0.106371	0.77331	D	0.997147262096405	0.90872	D	0.974503	0.90930	D	0.80051655	0.83938	0.6960906	0.82106	0.80051655	0.83940	0.6960906	0.82107	-4.844	0.35100	T	.	.	0.858	0.81734	P	.;.	.;.	4.288525	0.65387	24.8	0.99862636859503739	0.94093	0.98843	0.87588	D	AEFDBI	0.912368	0.87290	D	0.687535798205049	0.78817	6.948311	0.629800101749989	0.77112	6.617432	0.999999708757075	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	9.085000	0.93471	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.574000	0.30748	1.0:0.0:0.0:0.0	14.112	0.64655	432	0.80690	.;.	.	.	.	.	.	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	0.02381	1078.98	49	chr19	19545520	.	A	G	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.145e+00;DP=932;ExcessHet=0.0000;FS=4.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.227;SOR=0.547	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1093,0,1166	20	0	1	0
chr19	21378656	21378656	C	T	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355240:exon5:c.C347T:p.P116L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	.	.	.	.	.	.	1.000	N	.	.	5.8	T	-0.919	T	0.002	T	0.05	-0.272	2.696	-0.298	-1.083	-1.394	.	0.007	0.000531136865176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035869241	7.926e-05	7.475e-05	8.014e-05	7.865e-05	0.0007	5.021e-05	4.139e-05	4.471e-05	3.346e-05	0	0	0	0	0	0.0007	8.674e-05	0.0002	0.0001	0.0001	0.0001	9.124e-05	0.0002	0.0002	9.911e-05	8.401e-05	0.0001	0.0001	4.923e-05	0	6.692e-05	0	0	0.0001	0	0.0002	0.0010	0.0002	0.238	0.17821	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.8	0.00668	T	-0.95	0.25332	N	0.109	0.09490	-0.9188	0.45716	T	0.002	0.00769	T	5	0.052625358	0.05326	T	5.31E-4	0.00185	T	0.007	0.00512	0.365	0.37199	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.618714	0.00112	T	-0.800575	0.01888	T	0.0123674543574452	0.00202	T	0.348865	0.07732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16756	B	.	.	0.231895	0.06131	2.576	0.79736903243951229	0.12877	0.00023	0.00238	N	AEFBI	0.012508	0.00138	N	-1.16661064477438	0.05512	0.2514697	-1.41637388794544	0.03088	0.143367	2.05592568275375E-5	0.02871	0.634777	0.41761	0	0.653731	0.59785	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	0.149	-0.298	0.12179	0.067000	0.14378	.	.	-0.641000	0.04447	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	158.34	28	chr19	21378656	.	C	T	158.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.717;DP=506;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=0.618;SOR=0.818	GT:AD:DP:GQ:PL	0/1:12,8:20:99:172,0,268	19	0	1	1
chr19	22392982	22392982	C	A	splicing	ZNF98	NM_001098626:exon4:c.254-1G>T	.	.	.	.	536	964	21	1	0	23	0.0117888	0.9999	0.514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.821	0.621	-3.12	-0.408	-0.035	2.015	.	.	.	.	0.0135	0.0109	0.0064	0.0323	0.0058	0.0148	0.0161	0.0052	3.84e-05	1	26028	rs753118485	0.0004	0.0076	0.0004	0.0005	0.0026	0.0004	0.0004	0.0015	0.0012	0.0004	0.0007	0.0003	0.0015	0.0016	0.0026	0.0003	0.0005	0.0008	0.0001	0.0034	0.0001	0.0001	0.0012	7.193e-05	5.931e-05	0.0005	0.0004	2.437e-05	0	0.0001	0.0003	0.0012	0	0	7.471e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999913	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.480276	0.00736	T	-0.92766	0.00342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.988562	0.25265	16.70	0.29246123047690514	0.01542	0.00230	0.01288	N	AEFBI	.	.	.	-0.12472375991063	0.36319	2.097657	-0.603631867293508	0.19399	1.040641	3.2191850307567E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	1.56	-3.12	0.04959	0.694000	0.25190	.	.	0.296000	0.18849	0.005000	0.17040	0.001000	0.17328	0.017000	0.10941	0.2997:0.4494:0.0:0.2509	2.015	0.03283	988	0.01987	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	251.98	37	chr19	22392982	.	C	A	251.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.342e+00;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.12;MQRankSum=-6.141e+00;QD=3.32;ReadPosRankSum=-6.220e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,11:76:99:0|1:22392975_T_C:266,0,2679:22392975	20	0	1	0
chr19	35227960	35227960	T	C	exonic	FAM187B	.	nonsynonymous SNV	FAM187B:NM_152481:exon1:c.A721G:p.R241G,	.	.	427	1094	1	0	0	1	0.00045683	0.9968	0.968	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.964	D	0.000	D	0.646	D	1.995	M	1.03	T	-0.666	T	0.109	T	0.298	2.529	14.42	3.88	0.794	2.180	8.152	0.298	.	0.0085	0.00778754	0.0023	0.0233	0.0017	0	0	3.105e-05	0	0	0.0021151	327	154602	rs141317302	0.0007	0.0007	0.0008	0.0005	0.0243	0.0006	0.0006	0.0229	0.0224	0.0243	0.0015	0	0	0	0.0017	7.235e-06	0.0015	5.91e-05	0.0072	0.0072	0.0072	0.0072	0.0254	0.0069	0.0067	0.0241	0.0236	0.0254	0	0.0026	0	0	0	0	1.47e-05	0.0014	0	0.01	0.56456	D	0.0	0.92824	D	0.998	0.73220	D	0.964	0.71005	D	0.000091	0.51296	D	0.000000	0.646213	0.32921	D	1.905	0.50856	L	1.03	0.40469	T	-4.27	0.76254	D	0.67	0.67822	-0.6662	0.62000	T	0.109	0.39462	T	10	0.015402585	0.00323	T	.	.	.	0.298	0.61843	.	.	0.533227312814	0.52972	0.7858956404017143	0.78540	0.988945706212	0.74000	0.349080264568	0.17786	T	0.07348	0.34707	T	-0.474621	0.00796	T	-0.434265	0.29453	T	0.0357468306375427	0.02936	T	0.569643	0.20265	T	0.27717894	0.50777	0.312032	0.57207	0.27717894	0.50777	0.312032	0.57206	-4.448	0.30203	T	.	.	0.264	0.49845	B	.	.	5.190366	0.87047	29.1	0.99817199672611812	0.90061	0.83185	0.42324	D	AEFDBI	0.362572	0.45178	N	0.344735110304885	0.58461	4.018591	0.254169995590898	0.52887	3.460581	0.915829665659614	0.26494	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.91	3.88	0.43959	2.673000	0.46524	6.136000	0.53985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.1788:0.0:0.0:0.8212	8.152	0.30308	917	0.20147	.	.	.	.	.	.	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	0.02381	1272.98	37	chr19	35227960	.	T	C	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.372e+00;DP=1116;ExcessHet=0.0000;FS=3.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-8.200e-01;SOR=0.424	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1287,0,1300	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,34,0:66:99:.:.:1262,0,1132,1358,1238,2597	13	0	1	0
chr19	35620266	35620266	C	A	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon17:c.C1590A:p.S530R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.739	P	0.474	P	0.489	N	1.000	N	1.525	L	1.43	T	-1.065	T	0.040	T	0.072	2.504	14.33	0.651	0.006	-0.007	8.306	0.055	.	0.0053	0.00479233	0.0011	0.0143	0.0004	0	0	0	0	0	0.0010867	168	154602	rs61738561	0.0004	0.0004	0.0005	0.0003	0.0162	0.0004	0.0004	0.0151	0.0147	0.0162	0.0004	0	0	0	0.0003	3.597e-06	0.0006	2.319e-05	0.0040	0.0040	0.0041	0.0039	0.0144	0.0038	0.0036	0.0134	0.0131	0.0144	0	0.0005	0	0	0	0	0	0.0024	0	0.033	0.44358	D	0.034	0.54159	D	0.739	0.42933	P	0.474	0.46883	P	0.489077	0.12078	N	0.791326	1	0.08975	N	2.39	0.68882	M	1.43	0.32958	T	-1.48	0.36189	N	0.227	0.25499	-1.0648	0.10596	T	0.040	0.17404	T	10	0.0050446987	0.00109	T	.	.	.	0.055	0.15663	0.173	0.07894	0.280181792013	0.27631	0.49914159633776417	0.49835	0.237544240872	0.26293	0.355619668961	0.18747	T	0.016502	0.29172	T	-0.621046	0.00108	T	-0.651241	0.08867	T	0.0116045668500558	0.00176	T	0.684832	0.29327	T	0.092388324	0.21674	0.09454438	0.22384	0.092388324	0.21674	0.09454438	0.22383	-3.038	0.10596	T	.	.	0.207	0.56311	B	.;.	.;.	0.783431	0.11534	8.133	0.9869126562747379	0.44766	0.02242	0.06502	N	AEFBI	0.053275	0.09586	N	-0.685771385711583	0.16426	0.8368148	-0.839181560973813	0.13548	0.7034105	0.00248675936295236	0.09470	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.05	0.651	0.16989	0.039000	0.13770	-0.112000	0.11818	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5132:0.0:0.4868	8.306	0.31205	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	387.98	34	chr19	35620266	.	C	A	387.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.032e+00;DP=723;ExcessHet=0.0000;FS=1.475;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=0.416;SOR=1.270	GT:AD:DP:GQ:PL	0/1:18,15:33:99:402,0,569	20	0	1	0
chr19	35668631	35668631	C	T	exonic	UPK1A	.	nonsynonymous SNV	UPK1A:NM_001281443:exon3:c.C262T:p.R88C	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.042	N	0.930	D	0.69	N	-1.53	D	-0.828	T	0.160	T	0.128	0.219	5.180	2.05	0.081	0.081	8.021	0.261	.	0.0053	0.00479233	0.0013	0.0144	0.0003	0	0	1.66e-05	0	0	0.0010802	167	154602	rs61730228	0.0004	0.0004	0.0005	0.0003	0.0145	0.0004	0.0003	0.0134	0.0130	0.0145	0.0004	3.83e-05	0.0003	0	0.0003	1.169e-05	0.0005	3.48e-05	0.0037	0.0037	0.0037	0.0036	0.0131	0.0034	0.0033	0.0122	0.0118	0.0131	0	0.0005	0	0	0	0	1.471e-05	0.0019	0	0.077	0.34095	T	0.147	0.37449	T	0.0	0.02946	B	0.001	0.04355	B	0.041979	0.23891	N	0.386427	0.930001	0.36944	D	0	0.06538	N	-1.53	0.81559	D	-2.18	0.51646	N	0.213	0.28732	-0.8283	0.53410	T	0.160	0.49497	T	10	0.006706208	0.00152	T	.	.	.	0.261	0.57352	.	.	0.115124310173	0.11017	0.6234123753070699	0.62274	0.263295551271	0.28884	0.306515365839	0.11381	T	0.159047	0.50233	T	-0.491148	0.00640	T	-0.465952	0.25954	T	0.00377497056835229	0.00040	T	0.59724	0.24237	T	0.10587895	0.25035	0.08511069	0.19628	0.10587895	0.25034	0.08511069	0.19627	-5.973	0.47117	T	.	.	0.165	0.36455	B	.;.;.;.	.;.;.;.	1.328249	0.17329	13.10	0.84958508858903459	0.15600	0.71141	0.34886	D	AEFDBI	0.192690	0.31984	N	-1.12856828219773	0.06140	0.281834	-0.998751803439232	0.09813	0.4904237	0.00105173866389787	0.08170	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	2.05	0.25860	0.094000	0.14946	0.115000	0.14837	-0.828000	0.02899	0.317000	0.25476	0.001000	0.17328	0.026000	0.12556	0.0:0.6813:0.1192:0.1995	8.021	0.29571	894	0.26265	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1056.98	33	chr19	35668631	.	C	T	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.988;DP=792;ExcessHet=0.0000;FS=3.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.175;SOR=0.383	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1071,0,923	20	0	1	0
chr19	35739336	35739336	C	T	exonic	IGFLR1	.	nonsynonymous SNV	IGFLR1:NM_001346004:exon3:c.G448A:p.A150T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.046	B	0.034	B	0.428	N	0.998	N	-0.345	N	2.02	T	-0.948	T	0.019	T	0.067	1.981	12.58	0.949	0.035	0.367	6.12	0.020	0.00543636748524	.	.	1.184e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs766995822	6.861e-06	7.524e-06	6.822e-06	6.9e-06	0.0002	3.47e-06	2.53e-06	0.0001	8.688e-05	0.0002	0	0	0	0	0.0002	0	1.66e-05	0	2.625e-05	2.624e-05	2.569e-05	2.684e-05	7.214e-05	8.13e-06	5.14e-06	1.913e-05	1.03e-05	7.214e-05	0	0	0	0	0	0	1.47e-05	0	0	0.543	0.06735	T	0.283	0.21678	T	0.046	0.21875	B	0.034	0.22546	B	0.427875	0.12786	N	0.717736	0.998984	0.22287	N	1.385	0.34509	L	2.02	0.21119	T	-0.54	0.16598	N	0.039	0.03175	-0.9475	0.41397	T	0.019	0.07846	T	10	0.043736815	0.03256	T	0.005436	0.13954	T	0.020	0.03691	0.157	0.06070	0.0986583533028	0.09354	0.26493977527269197	0.26406	0.125001582203	0.14086	0.362936407328	0.19813	T	0.004893	0.04311	T	-0.323742	0.06596	T	-0.702809	0.05673	T	0.0812724167664966	0.10149	T	0.60194	0.22547	T	0.029783392	0.02529	0.04217829	0.04962	0.029783392	0.02529	0.04217829	0.04962	-3.089	0.19525	T	.	.	0.103	0.18622	B	.;.;.;.	.;.;.;.	1.793590	0.22800	15.77	0.95986328973607848	0.28374	0.19025	0.20498	N	AEFDBHCI	0.142250	0.26464	N	-0.872033444862261	0.11512	0.5559011	-0.739706740490164	0.15975	0.842889	0.999998985907176	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.69	0.949	0.18691	0.400000	0.20657	0.961000	0.22991	0.599000	0.40250	0.129000	0.23328	0.012000	0.20211	0.862000	0.40904	0.0:0.5891:0.0:0.4109	6.12	0.19367	698	0.58074	.;.;.;.	.	.	.	.	.	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	0.02381	891.98	38	chr19	35739336	.	C	T	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.535e+00;DP=838;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-1.320e+00;SOR=0.910	GT:AD:DP:GQ:PL	0/1:25,35:60:99:906,0,699	20	0	1	0
chr19	35811969	35811969	G	C	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378292:exon4:c.C590G:p.S197C	.	.	.	.	.	.	.	.	.	.	.	3199540	PRODH2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.886	P	.	.	1.000	D	1.67	L	3.27	T	-1.218	T	0.023	T	0.224	3.014	16.05	3.61	2.630	3.192	9.643	0.118	.	0.0072	0.00838658	0.0015	0.0176	0.0003	0	0	0	0	0	0.0015653	242	154602	rs116583133	0.0005	0.0005	0.0006	0.0003	0.0174	0.0004	0.0004	0.0162	0.0157	0.0174	0.0003	0	0	0	0.0005	1.799e-06	0.0009	2.319e-05	0.0048	0.0048	0.0050	0.0047	0.0172	0.0045	0.0044	0.0162	0.0157	0.0172	0	0.0011	0	0	0	0	1.47e-05	0.0014	0	0.004	0.65419	D	0.042	0.50226	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.979703	0.25163	N	.	.	.	3.27	0.06602	T	-1.3	0.32590	N	0.5	0.53269	-1.2184	0.00057	T	0.023	0.09604	T	9	0.008913547	0.00202	T	.	.	.	0.118	0.32913	.	.	0.425499470309	0.42167	0.5499884557418094	0.54924	0.582682893646	0.54016	0.455933719873	0.32754	T	0.412053	0.76633	T	-0.552161	0.00283	T	-0.551638	0.17169	T	0.0372037032197249	0.03191	T	0.725127	0.33902	T	0.14249834	0.32791	0.18030305	0.40820	0.14249834	0.32791	0.18030305	0.40820	-6.068	0.46844	T	.	.	0.103	0.18414	B	.	.	4.671318	0.74661	26.2	0.99257768157039716	0.57088	0.89435	0.49898	D	AEFDBHCI	0.491045	0.52827	N	0.508328379012074	0.67579	5.100749	0.469122082300428	0.65954	4.889493	0.999999497857787	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.73	3.61	0.40494	3.470000	0.52864	5.412000	0.48541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:0.7923:0.2077	9.643	0.39017	799	0.44747	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	0.02381	1102.98	34	chr19	35811969	.	G	C	1102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=780;ExcessHet=0.0000;FS=0.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.32;ReadPosRankSum=-1.174e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1117,0,914	20	0	1	0
chr19	35826642	35826642	G	A	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon29:c.C3598T:p.P1200S,	Nephrotic syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	728133	not_provided|Congenital_nephrotic_syndrome|Focal_segmental_glomerulosclerosis|Finnish_congenital_nephrotic_syndrome	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008677,MONDO:MONDO:0002350,MeSH:C535761,MedGen:C3501848,OMIM:PS256300|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.028	N	1.000	N	0.805	L	-0.71	T	-1.089	T	0.078	T	0.054	0.726	7.859	0.17	0.647	-0.190	2.934	0.150	.	0.0055	0.00698882	0.0012	0.0140	0.0002	0	0	0	0	0	0.0012548	194	154602	rs35240811	0.0004	0.0004	0.0004	0.0003	0.0138	0.0003	0.0003	0.0128	0.0124	0.0138	0.0002	0	0	0	0.0007	8.993e-07	0.0007	1.159e-05	0.0038	0.0038	0.0039	0.0037	0.0135	0.0035	0.0034	0.0126	0.0122	0.0135	0	0.0007	0	0	0	0	0	0.0014	0	0.261	0.16520	T	0.505	0.16231	T	0.0	0.02946	B	0.001	0.04355	B	0.027729	0.25711	N	0.345212	1	0.08975	N	0.66	0.16226	N	-0.71	0.73100	T	-1.62	0.38924	N	0.056	0.05799	-1.0889	0.05718	T	0.078	0.31012	T	10	0.005597234	0.00124	T	.	.	.	0.150	0.39571	.	.	0.565168447923	0.56179	0.15320658675188475	0.15242	0.104148278911	0.11784	0.297765463591	0.10069	T	0.335635	0.70524	T	-0.583428	0.00184	T	-0.598506	0.12937	T	0.00745169142150566	0.00086	T	0.652235	0.26282	T	0.034223955	0.03798	0.050397374	0.07900	0.029290339	0.02400	0.055357948	0.09693	-4.305	0.28246	T	.	.	0.070	0.16886	B	.;.	.;.	-0.168522	0.03255	0.552	0.4141437293765306	0.02986	0.04172	0.09668	N	AEFBHCI	0.052487	0.09374	N	-1.12707690806314	0.06166	0.2830893	-1.14266666435326	0.06900	0.3337506	1.16323341225613E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.83	0.17	0.14307	-0.043000	0.11996	0.462000	0.18628	-0.113000	0.14837	0.000000	0.06391	0.016000	0.20520	0.001000	0.02609	0.3293:0.0:0.4743:0.1964	2.934	0.05452	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	0.02381	1460.98	34	chr19	35826642	.	G	A	1460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=827;ExcessHet=0.0000;FS=4.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.477;SOR=0.724	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1475,0,1555	20	0	1	0
chr19	35857151	35857153	TCC	-	exonic	KIRREL2	.	nonframeshift deletion	KIRREL2:NM_001329530:exon1:c.32_34del:p.L13del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0001	0	0.0003	0	0	0.0001	0.0022	0.0002	0.00011	17	154602	rs765791761	0.0002	0.0002	0.0002	0.0002	0.0056	0.0001	0.0001	0.0040	0.0035	0.0001	0.0002	0	0	0	0.0056	0.0001	0.0004	0.0002	9.936e-05	9.875e-05	0.0001	5.431e-05	0.0002	6.055e-05	4.918e-05	6.817e-05	5.097e-05	2.438e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2108.94	35	chr19	35857150	.	GTCC	G	2108.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.967e+00;DP=809;ExcessHet=0.0000;FS=1.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.90;ReadPosRankSum=0.633;SOR=0.520	GT:AD:DP:GQ:PL	0/1:51,55:106:99:2123,0,1932	20	0	1	0
chr19	36640001	36640001	C	G	exonic	ZNF461	.	nonsynonymous SNV	ZNF461:NM_001297623:exon5:c.G275C:p.R92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.608	P	0.19	B	.	.	1.000	N	0.695	N	3.38	T	-0.952	T	0.008	T	0.145	-0.395	2.148	1.54	0.439	-0.383	4.176	0.021	.	0.0029	0.00319489	0.0012	0.0144	0.0003	0	0	6.043e-05	0	6.061e-05	0.0011061	171	154602	rs10412527	0.0004	0.0004	0.0004	0.0003	0.0141	0.0004	0.0004	0.0130	0.0126	0.0141	0.0005	0	0	0	0.0014	1.35e-05	0.0008	4.641e-05	0.0037	0.0037	0.0036	0.0037	0.0128	0.0034	0.0033	0.0119	0.0115	0.0128	0	0.0014	0	0	0	0	0	0.0033	0.0002	0.035	0.43708	D	0.362	0.58089	T	0.421	0.35387	B	0.074	0.28220	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	3.35	0.05989	T	-1.82	0.42763	N	0.106	0.15469	-0.9515	0.40712	T	0.008	0.02760	T	9	0.0036943257	0.00068	T	.	.	.	0.021	0.04004	.	.	0.211220785272	0.20719	0.14136088061689167	0.14059	0.167058192756	0.18843	0.247211784124	0.03479	T	0.017491	0.14263	T	-0.621814	0.00107	T	-0.654293	0.08656	T	0.00283089787037155	0.00030	T	0.592841	0.35112	T	0.0697507	0.15308	0.048208002	0.07112	0.0697507	0.15307	0.048208002	0.07112	-5.519	0.42045	T	.	.	0.094	0.26700	B	.;.;.;.	.;.;.;.	1.766804	0.22469	15.63	0.78036400402525086	0.12128	0.13746	0.18029	N	AEFGBCI	0.049364	0.08519	N	-0.768371393896349	0.14139	0.7019312	-0.849885411683102	0.13290	0.6886367	0.00227378725985025	0.09286	0.651	0.46895	0	0.670034	0.63936	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	3.09	1.54	0.22290	-0.024000	0.12382	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.877000	0.41881	0.0:0.6718:0.0:0.3282	4.176	0.09815	667	0.61242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1050.98	35	chr19	36640001	.	C	G	1050.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.584e+00;DP=769;ExcessHet=0.0000;FS=4.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=0.117;SOR=0.332	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1065,0,1053	20	0	1	0
chr19	36892213	36892213	A	G	exonic	ZNF829	.	nonsynonymous SNV	ZNF829:NM_001037232:exon6:c.T578C:p.F193S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	.	.	1.000	N	2.455	M	1.58	T	-0.688	T	0.139	T	0.804	3.326	17.19	3.41	1.783	6.614	11.758	0.427	.	0.0027	0.00419329	0.0009	0.0102	0.0002	0	0	0	0	0	0.0008667	134	154602	rs10417532	0.0003	0.0003	0.0003	0.0002	0.0109	0.0003	0.0003	0.0100	0.0096	0.0109	0.0004	0	0	0	0.0005	8.993e-07	0.0006	0	0.0031	0.0031	0.0034	0.0028	0.0110	0.0029	0.0028	0.0102	0.0098	0.0110	0	0.0006	0	0	0	0	1.47e-05	0.0033	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.593323	0.81001	N	3.155	0.88459	M	1.58	0.29085	T	-7.38	0.94702	D	0.648	0.74371	-0.6877	0.61015	T	0.139	0.45791	T	9	0.013304174	0.00283	T	.	.	.	0.427	0.73445	.	.	0.502254315933	0.49861	0.13788888609489902	0.13712	0.560825389694	0.52599	0.544849574566	0.45131	T	0.331334	0.70142	T	-0.226397	0.17128	T	-0.0885853	0.64269	T	0.0760402693453777	0.09474	T	0.564244	0.19889	T	0.7389526	0.80232	0.79998976	0.88269	0.7389526	0.80234	0.79998976	0.88270	-9.322	0.69745	D	.	.	0.237	0.47105	B	.;.	.;.	3.833168	0.55424	23.6	0.99861684968781361	0.94002	0.89983	0.50814	D	AEFGBHCI	0.606868	0.59705	D	0.606605409934685	0.73592	5.991337	0.49110162152299	0.67399	5.078816	0.99312765323697	0.33094	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	3.734000	0.54760	.	.	0.756000	0.94297	0.995000	0.38783	0.990000	0.31317	0.059000	0.15899	1.0:0.0:0.0:0.0	11.758	0.51154	584	0.69381	.;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	0.02381	1193.98	38	chr19	36892213	.	A	G	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.81;DP=792;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=0.910;SOR=0.996	GT:AD:DP:GQ:PL	0/1:50,39:89:99:1208,0,1367	20	0	1	0
chr19	36996592	36996592	A	G	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204839:exon9:c.A709G:p.I237V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.0	B	0.001	B	.	.	1.000	N	1.01	L	0.21	T	-1.029	T	0.090	T	0.072	1.142	9.652	-4.18	-0.864	0.327	0.298	0.122	.	.	0.00399361	0.0001	0.0038	0	0	0	0	0	0	0.000194	30	154602	rs147275739	0.0003	0.0003	0.0003	0.0002	0.0105	0.0003	0.0002	0.0096	0.0092	0.0105	0.0004	0	0	0	0.0005	9.269e-07	0.0006	0	0.0029	0.0030	0.0032	0.0027	0.0104	0.0027	0.0026	0.0096	0.0093	0.0104	0	0.0006	0	0	0	0	1.47e-05	0.0033	0	0.428	0.13003	T	0.426	0.19908	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.21	0.59983	T	-0.21	0.10308	N	0.026	0.00571	-1.0287	0.20876	T	0.090	0.34546	T	9	0.006840229	0.00155	T	.	.	.	0.122	0.33800	.	.	0.224531998449	0.22054	.	.	.	.	.	.	.	0.004314	0.03719	T	-0.627849	0.00099	T	-0.666677	0.07823	T	0.00148488976018297	0.00015	T	0.00342823	0.00030	T	.	.	.	.	.	.	.	.	-4.641	0.32683	T	.	.	0.089	0.13690	B	.;.;.;.	.;.;.;.	-0.380839	0.02285	0.239	0.46557235499166966	0.03738	0.11218	0.16487	N	AEFGBI	0.073116	0.14614	N	-1.19606970013946	0.05059	0.2297667	-1.29841080241949	0.04452	0.2100497	0.00836801527238504	0.11662	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.98	-4.18	0.03584	-0.262000	0.08706	.	.	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.375:0.1372:0.218:0.2699	0.298	0.00250	662	0.61715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1743.98	33	chr19	36996592	.	A	G	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.504;SOR=0.657	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1758,0,1553	20	0	1	0
chr19	37186371	37186371	C	T	exonic	ZNF585B	.	nonsynonymous SNV	ZNF585B:NM_152279:exon5:c.G1166A:p.R389K,	.	.	358	1161	3	0	0	3	0.00129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	D	-1.215	N	2.77	T	-0.950	T	0.004	T	0.072	-0.450	1.912	2.89	0.323	2.100	6.372	0.035	.	.	0.0113818	0.0028	0.0303	0.0010	0.0001	0	0.0001	0	0.0003	0.0026649	412	154602	rs112958950	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0270	0.0291	0.0012	0	5.038e-05	1.872e-05	0.0028	7.104e-05	0.0018	0.0003	0.0078	0.0079	0.0082	0.0075	0.0274	0.0075	0.0073	0.0261	0.0255	0.0274	0	0.0020	0	0	0	0	0.0001	0.0062	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001214	0.39820	N	0.000000	1	0.81001	D	-0.385	0.03041	N	2.77	0.11407	T	2.68	0.00194	N	0.107	0.11054	-0.9497	0.41023	T	0.004	0.01159	T	10	0.0025695264	0.00039	T	.	.	.	0.035	0.08770	.	.	0.130388298395	0.12655	0.026753635890488656	0.02625	0.301449138178	0.32482	0.514855742455	0.40903	T	0.017921	0.14537	T	-0.690429	0.00042	T	-0.742217	0.03798	T	0.00102930978295012	0.00010	T	0.0376962	0.00261	T	0.048542056	0.08476	0.052093543	0.08514	0.048542056	0.08476	0.052093543	0.08514	0.294	0.00260	T	.	.	0.065	0.02038	B	.;.	.;.	1.396874	0.18105	13.55	0.37341747942745823	0.02455	0.03623	0.08862	N	AEFGBCI	0.051975	0.09233	N	-1.05986893306434	0.07395	0.3434153	-0.843721152194992	0.13438	0.6971309	0.00228101637099544	0.09286	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.89	2.89	0.32713	1.531000	0.35624	.	.	-0.223000	0.07921	0.875000	0.30889	0.004000	0.18990	0.890000	0.42831	0.0:0.1313:0.0:0.8687	6.372	0.20690	647	0.63344	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1356.98	48	chr19	37186371	.	C	T	1356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=944;ExcessHet=0.0000;FS=5.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.96;MQRankSum=-4.180e+00;QD=14.75;ReadPosRankSum=-1.118e+00;SOR=1.247	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1371,0,1423	20	0	1	0
chr19	38384432	38384432	G	C	exonic	GGN	.	nonsynonymous SNV	GGN:NM_152657:exon4:c.C1939G:p.Q647E,	.	.	431	1024	51	2	14	69	0.0261531	.	.	716412	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.954	P	0.954	D	0.002	N	0.681	D	0.895	L	.	.	-0.479	T	0.218	T	0.517	3.518	17.97	4.59	2.369	3.533	12.796	0.126	.	.	0.00479233	0.0076	0.0004	0.0035	0	0.0029	0.0078	0.0121	0.0200	0.0069016	1067	154602	rs62123481	0.0070	0.0071	0.0065	0.0076	0.0214	0.0069	0.0069	0.0206	0.0202	0.0009	0.0034	0.0159	2.52e-05	0.0031	0.0120	0.0065	0.0070	0.0214	0.0052	0.0052	0.0053	0.0051	0.0199	0.0049	0.0048	0.0167	0.0155	0.0010	0	0.0043	0.0161	0	0.0027	0.0170	0.0071	0.0061	0.0199	0.0	0.91255	D	0.0	0.92824	D	0.954	0.54400	P	0.954	0.69447	D	0.002264	0.36887	N	0.000000	0.680832	0.33232	D	0.695	0.17993	N	.	.	.	-1.53	0.37178	N	0.35	0.39153	-0.4791	0.69399	T	0.218	0.58020	T	9	0.007388383	0.00168	T	.	.	.	0.126	0.34673	.	.	0.587148908892	0.58389	0.39254457676970256	0.39169	1.05605418879	0.76316	0.446935534477	0.31526	T	0.055877	0.30129	T	-0.308925	0.07843	T	-0.20093	0.54558	T	0.0256938633090336	0.01365	T	0.567243	0.20104	T	0.47417966	0.65546	0.49180797	0.70603	0.47417966	0.65547	0.49180797	0.70603	-3.411	0.15204	T	.	.	0.107	0.20196	B	.	.	3.883653	0.56458	23.7	0.99321719582644474	0.59431	0.85336	0.44459	D	AEFDGBHCI	0.414814	0.48392	N	0.447970816565181	0.64087	4.655645	0.43277077263354	0.63619	4.599214	0.999999999959547	0.74766	0.516213	0.21343	1	0.573116	0.20632	0	0.651303	0.49530	0	0.508809	0.08732	0	.	.	4.59	4.59	0.56297	3.652000	0.54179	9.806000	0.81721	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.0:1.0:0.0	12.796	0.56938	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1187.98	33	chr19	38384432	.	G	C	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.570e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.083e+00;SOR=0.688	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1202,0,1609	20	0	1	0
chr19	38499748	38499748	G	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon44:c.G7141A:p.E2381K	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	581529	RYR1-related_disorder|not_provided	MedGen:CN239331|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.69	T	0.102	B	0.006	B	0.000	U	0.932	D	0.885	L	-4.65	D	0.244	D	0.765	D	0.266	2.794	15.30	2.92	0.875	3.213	8.068	0.435	0.227494142767	7.7e-05	0.000199681	0.0001	0.0007	0	0	0	5.144e-05	0	0.0001	8.41e-05	13	154602	rs148426762	4.139e-05	4.309e-05	3.433e-05	4.852e-05	0.0007	3.272e-05	2.944e-05	0.0004	0.0004	0.0007	2.246e-05	0	0	0	0.0002	1.8e-05	0.0002	6.99e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0.0001	0	0	0	0	1.471e-05	0	0	0.728	0.03834	T	.	.	.	0.102	0.25827	B	0.006	0.12133	B	0.000002	0.62929	U	0.000000	0.932385	0.37020	D	0.85	0.21244	L	-4.65	0.97938	D	-2.8	0.59226	D	0.749	0.77883	0.244	0.86638	D	0.765	0.92002	D	10	0.39508116	0.55168	T	0.227494	0.88093	D	0.435	0.74022	.	.	0.942070771296	0.94146	0.8141444801300911	0.81370	0.365579742513	0.38146	0.743567824364	0.73497	T	0.422743	0.77372	T	-0.110125	0.34749	T	-0.0970271	0.63626	T	0.0953441187739372	0.11837	T	0.951205	0.81406	D	0.22637177	0.45316	0.17319271	0.39629	0.22637177	0.45316	0.17319271	0.39628	-13.059	0.89854	D	0.11371059718645415	0.09982	0.116	0.23219	B	.;.	.;.	3.596980	0.50782	23.0	0.99682788608189787	0.79373	0.94328	0.60816	D	AEFDBI	0.589599	0.58642	D	-0.44363738696188	0.23957	1.290154	-0.299190808049236	0.28125	1.565719	0.118506417735055	0.16825	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.95	2.92	0.32998	2.924000	0.48572	7.504000	0.59526	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0929:0.1609:0.7461:0.0	8.068	0.29833	754	0.51307	.;.	.	.	.	.	.	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	0.02381	888.98	35	chr19	38499748	.	G	A	888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=1032;ExcessHet=0.0000;FS=3.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.896;SOR=0.984	GT:AD:DP:GQ:PL	0/1:35,33:68:99:903,0,928	20	0	1	0
chr19	38505358	38505358	C	G	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon53:c.C8360G:p.T2787S	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	38459	Central_core_myopathy|King_Denborough_syndrome|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia,_susceptibility_to,_1|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|Malignant_hyperthermia_of_anesthesia|Malignant_hypothermia|RYR1-related_disorder|not_provided|not_specified	MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:597|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:C2674259|Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423|MedGen:CN234658|MedGen:CN239331|MedGen:C3661900|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.11	T	0.009	B	0.01	B	0.000	U	0.994	D	2.21	M	-2.87	D	-0.072	T	0.345	T	0.243	1.957	12.50	4.14	2.303	6.872	15.689	0.466	.	0.0102	0.00898562	0.0033	0.0331	0.0018	0	0	0.0007	0.0026	0	0.0030013	464	154602	rs35180584	0.0013	0.0013	0.0014	0.0012	0.0304	0.0012	0.0012	0.0288	0.0282	0.0304	0.0029	0.0100	0	0	0.0029	0.0003	0.0029	0.0002	0.0088	0.0088	0.0092	0.0083	0.0290	0.0084	0.0082	0.0276	0.0271	0.0290	0	0.0028	0.0115	0	0	0	0.0004	0.0071	0.0002	0.119	0.28646	T	.	.	.	0.007	0.15093	B	0.006	0.14941	B	0.000091	0.51296	U	0.074144	0.994085	0.42155	D	1.72	0.44442	L	-2.87	0.91478	D	-2.73	0.58085	D	0.618	0.63374	-0.0716	0.80744	T	0.345	0.71044	T	10	0.0125312805	0.00269	T	.	.	.	0.466	0.76156	0.775	0.90080	0.972265303554	0.97196	0.30988693071817347	0.30901	0.274529818045	0.29946	0.772753179073	0.77837	T	0.661952	0.89867	D	-0.293839	0.09254	T	-0.171859	0.57273	T	0.0230522488556676	0.01030	T	0.816518	0.47234	T	0.33775392	0.56099	0.30024907	0.56058	0.35601524	0.57531	0.31169978	0.57174	-7.437	0.57364	T	0.17540563854969868	0.22327	0.180	0.39203	B	.;.	.;.	2.848362	0.37596	20.5	0.89959655269947802	0.19255	0.98310	0.81501	D	AEFDBI	0.832336	0.75073	D	0.0769611459066201	0.45389	2.796321	0.181666424341523	0.48843	3.094889	0.999999960879998	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	5.603000	0.67304	7.613000	0.61989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	15.689	0.77194	757	0.50970	.;Ryanodine receptor Ryr	.	.	.	.	.	Likely benign	0	0	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	0.02381	1392.98	41	chr19	38505358	.	C	G	1392.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.70;SOR=0.713	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1407,0,1399	20	0	1	0
chr19	38572121	38572121	G	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon94:c.G13834A:p.G4612R	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	469795	not_provided|Malignant_hyperthermia,_susceptibility_to,_1|RYR1-related_disorder	MedGen:C3661900|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:CN239331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.848	P	0.551	P	0.000	U	0.977	D	0.55	N	-3.32	D	0.213	D	0.663	D	0.385	2.474	14.23	4.71	1.413	4.550	12.398	0.433	0.205466658242	7.7e-05	0.000399361	0.0001	0	0.0008	0.0003	0	5.994e-05	0	0	0.0001423	22	154602	rs202226983	8.072e-05	8.072e-05	9.801e-05	6.325e-05	0.0006	6.868e-05	6.42e-05	0.0004	0.0004	2.987e-05	0.0006	0	0.0001	0	0.0002	6.835e-05	0.0001	0	9.231e-05	9.201e-05	0.0001	8.092e-05	0.0004	5.546e-05	4.379e-05	0.0002	0.0001	2.42e-05	0	0.0004	0	0.0004	0	0	5.894e-05	0.0005	0	0.09	0.33254	T	.	.	.	0.816	0.46844	P	0.415	0.49270	B	0.000247	0.46924	U	0.082778	0.977175	0.39342	D	1.69	0.43327	L	-3.32	0.93882	D	-2.13	0.48354	N	0.404	0.54584	0.213	0.86127	D	0.663	0.88314	D	10	0.083593965	0.13923	T	0.205467	0.86986	D	0.433	0.73879	0.537	0.64730	0.962648570882	0.96225	0.6018000725072506	0.60111	0.68430610145	0.60211	0.619278967381	0.55628	T	0.818986	0.95554	D	-0.125622	0.32207	T	-0.0506306	0.66979	D	0.0774241991141527	0.09654	T	0.824917	0.48720	T	0.17023356	0.37586	0.18801123	0.42067	0.17023356	0.37585	0.18801123	0.42066	-7.652	0.58673	D	0.12060027632495175	0.11357	0.166	0.36495	B	.;.	.;.	3.118975	0.42097	21.5	0.88757374159874491	0.18231	0.97126	0.72841	D	AEFDBHI	0.534310	0.55340	D	0.0373460432100961	0.43562	2.646635	0.0868434250540627	0.43884	2.681126	0.999956545837159	0.48110	0.706298	0.61202	0	0.61073	0.52368	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.76	4.71	0.59010	5.111000	0.64468	2.896000	0.35420	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.08:0.0:0.92:0.0	12.398	0.54730	650	0.62973	.;Ryanodine Receptor TM 4-6	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1673.98	33	chr19	38572121	.	G	A	1673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=824;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-8.010e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1688,0,1347	20	0	1	0
chr19	39485592	39485592	A	T	exonic	TIMM50	.	nonsynonymous SNV	TIMM50:NM_001001563:exon5:c.A362T:p.D121V,	.	.	422	1083	17	0	0	17	0.00778745	.	.	1127896	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.232	B	0.07	B	0.000	D	1.000	D	0.46	N	.	.	-1.008	T	0.109	T	0.9	3.237	16.85	4.98	2.081	8.299	13.769	0.266	0.0126171447994	0.0002	0.000998403	0.0009	0	8.637e-05	0	0	0.0001	0	0.0063	0.0008279	128	154602	rs143636898	0.0004	0.0004	0.0003	0.0006	0.0059	0.0004	0.0004	0.0055	0.0053	2.987e-05	2.236e-05	0	0	0	0.0028	9.802e-05	0.0003	0.0059	0.0003	0.0003	0.0003	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	2.41e-05	0	0	0	0	0	0.0068	0.0002	0.0005	0.0052	0.023	0.48186	D	0.497	0.11299	T	0.232	0.30664	B	0.07	0.27859	B	0.000019	0.62929	D	0.116646	1	0.81001	D	1.4	0.35362	L	.	.	.	-0.94	0.25118	N	0.78	0.77695	-1.0081	0.27510	T	0.109	0.39462	T	8	0.009700388	0.00218	T	0.012617	0.31353	T	0.266	0.57999	.	.	0.323342291347	0.31936	0.8629128084474169	0.86255	0.494755770336	0.48030	0.772827982903	0.77848	T	0.040764	0.26783	T	0.0426556	0.57391	T	0.290138	0.87683	D	0.043100526156782	0.04256	T	0.871313	0.57716	D	0.29603958	0.52547	0.25416547	0.51077	0.31009892	0.53795	0.23599663	0.48858	-13.884	0.92674	D	0.4912078908221296	0.56807	0.819	0.78162	P	.;.;.;.	.;.;.;.	3.453608	0.48099	22.6	0.98693697815120118	0.44795	0.98338	0.81774	D	AEFBCI	0.929287	0.91480	D	0.0370079771904828	0.43547	2.645399	0.222922799309285	0.51120	3.297499	0.999992643751617	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	6.488000	0.73544	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.769	0.62499	819	0.41190	.;.;.;.	.	.	.	.	.	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	0.02381	948.98	34	chr19	39485592	.	A	T	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=0.399;SOR=0.628	GT:AD:DP:GQ:PL	0/1:45,39:84:99:963,0,1167	20	0	1	0
chr19	39830764	39830764	A	G	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon3:c.T83C:p.L28P	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	.	422	1070	27	3	0	33	0.0151864	.	.	716444	not_provided|DYRK1B-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.3	T	0.965	D	0.563	P	0.005	N	1.000	D	1.245	L	0.51	T	-0.949	T	0.152	T	0.578	3.720	18.89	4.93	1.852	4.215	12.545	0.086	.	0.0019	0.00399361	0.0046	0.0003	0.0032	0.0001	0	0.0021	0.0058	0.0237	0.0040038	619	154602	rs34587974	0.0027	0.0027	0.0021	0.0034	0.0218	0.0027	0.0026	0.0210	0.0207	0.0003	0.0021	0.0025	0.0001	0.0002	0.0099	0.0016	0.0027	0.0218	0.0020	0.0020	0.0018	0.0021	0.0201	0.0018	0.0017	0.0168	0.0156	0.0004	0.0263	0.0021	0.0032	0.0004	9.409e-05	0.0136	0.0016	0.0024	0.0201	0.054	0.39820	T	0.211	0.38742	T	0.94	0.56013	P	0.36	0.49647	B	0.004706	0.33466	N	0.218004	0.999998	0.58761	D	1.15	0.29295	L	0.51	0.55775	T	-1.43	0.35194	N	0.321	0.52297	-0.9494	0.41075	T	0.152	0.48118	T	10	0.008390218	0.00190	T	.	.	.	0.086	0.25016	.	.	0.696307968527	0.69369	0.5615938848674867	0.56086	1.76035964692	0.91122	0.632241129875	0.57463	T	0.105355	0.41575	T	-0.347917	0.04860	T	-0.25495	0.49326	T	0.0441409249677052	0.04446	T	.	.	.	0.3156542	0.54271	0.24862657	0.50417	0.31791952	0.54463	0.25629076	0.51325	-2.796	0.08147	T	.	.	0.128	0.30184	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.735697	0.76313	26.5	0.9984869095352803	0.92838	0.97905	0.78016	D	AEFDBHI	0.804091	0.72905	D	0.230180320715182	0.52667	3.439396	0.292507250458728	0.55099	3.673524	0.99999944425382	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	4.343000	0.59128	.	.	0.756000	0.94297	0.995000	0.38783	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	12.545	0.55543	638	0.64280	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	490.98	35	chr19	39830764	.	A	G	490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.510e+00;DP=741;ExcessHet=0.0000;FS=1.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=1.75;SOR=0.402	GT:AD:DP:GQ:PL	0/1:31,21:52:99:505,0,901	20	0	1	0
chr19	39927514	39927514	A	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon2:c.T848A:p.I283N,	.	.	431	1090	1	0	0	1	0.000458505	.	.	2384988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.001	B	0.732	N	1.000	N	-0.55	N	2.19	T	-0.976	T	0.017	T	0.124	-0.305	2.545	-3.46	-0.425	-0.292	5.849	0.008	0.00353940507974	.	.	2.474e-05	0	0	0	0	3.002e-05	0	6.057e-05	1.94e-05	3	154602	rs754672117	2.057e-05	1.71e-05	1.957e-05	2.158e-05	0.0009	1.412e-05	1.193e-05	0.0003	0.0002	0	0	0	0	0	0.0009	1.677e-05	6.814e-05	2.403e-05	3.942e-05	3.94e-05	5.138e-05	2.689e-05	7.35e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.542e-05	0	0	0	0	7.35e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.732200	0.09846	N	0.847537	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9759	0.35926	T	0.017	0.06950	T	10	0.060467362	0.07432	T	0.003539	0.08062	T	.	.	0.415	0.45380	.	.	.	.	.	.	0.378085315228	0.21984	T	.	.	.	-0.4326	0.01430	T	-0.677649	0.07128	T	0.0115028521633382	0.00173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111672	0.05110	1.641	0.80244483723163063	0.13112	0.02262	0.06541	N	AEFGBCI	0.085253	0.17281	N	-1.4433230199087	0.02270	0.1000447	-1.4616896029183	0.02666	0.1230337	0.505380277850467	0.20976	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.29	-3.46	0.04465	-0.278000	0.08523	.	.	-0.156000	0.11795	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.4917:0.0:0.3759:0.1324	5.849	0.17934	597	0.68309	IgGFc-binding protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1837.98	34	chr19	39927514	.	A	T	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=864;ExcessHet=0.0000;FS=3.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.470e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1852,0,2110	20	0	1	0
chr19	40036594	40036594	A	G	exonic	ZNF780B	.	nonsynonymous SNV	ZNF780B:NM_001005851:exon5:c.T265C:p.S89P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.808	P	0.291	B	.	.	1.000	N	1.185	L	3.37	T	-0.971	T	0.012	T	0.157	1.402	10.62	-1.42	0.096	-0.140	3.031	0.036	0.00124951785875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.126e-07	6.841e-07	0	1.44e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14894	T	0.23	0.25135	T	0.808	0.45299	P	0.291	0.40706	B	.	.	.	.	1	0.08975	N	1.94	0.52218	M	3.37	0.05847	T	-2.55	0.55181	D	0.085	0.06322	-0.9708	0.37030	T	0.012	0.04605	T	9	0.13418186	0.25538	T	0.00125	0.01683	T	0.036	0.09122	0.408	0.44230	0.32580497728	0.32196	0.047423875993707516	0.04685	0.148946154099	0.16796	0.294180393219	0.09537	T	0.009996	0.09062	T	-0.269626	0.11798	T	-0.625076	0.10791	T	0.245249554514885	0.22659	T	.	.	.	0.232646	0.46055	0.23129308	0.48257	0.232646	0.46055	0.23129308	0.48256	-6.495	0.50248	T	.	.	0.075	0.05360	B	.;.	.;.	1.164794	0.15540	11.93	0.97258724073423508	0.33079	0.03590	0.08812	N	AEGBCI	0.025811	0.01832	N	-0.794581034009355	0.13451	0.6626923	-0.99534823248837	0.09889	0.4946839	0.00133405634904905	0.08454	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	2.44	-1.42	0.08446	-0.009000	0.12703	.	.	0.413000	0.20698	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.3099:0.0:0.455:0.2351	3.031	0.05738	784	0.47045	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	454.98	37	chr19	40036594	.	A	G	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.229e+00;DP=729;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-1.327e+00;SOR=1.262	GT:AD:DP:GQ:PL	0/1:11,18:29:99:469,0,302	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,32,0:32:96:1|1:40667975_C_T:1375,96,0,1375,96,1375:40667975	4	8	8	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A	.	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.001	B	.	.	0.958	D	0.69	N	.	.	-1.071	T	0.085	T	0.106	3.106	16.38	1.97	0.242	1.925	5.239	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2855.11	83	chr19	40749800	.	T	C	2855.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.18;DP=1629;ExcessHet=0.1072;FS=1.034;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=1.87;SOR=0.611	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1364,0,1722	19	0	2	0
chr19	42225746	42225746	C	G	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.C1343G:p.S448C	.	.	1	1515	5	1	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.833	P	0.557	P	0.102	N	1.000	N	1.94	M	-1.17	T	-0.640	T	0.474	T	0.246	1.448	10.78	1.14	0.249	-0.130	8.105	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	.	.	.	.	.	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	0.02381	834.98	47	chr19	42225746	.	C	G	834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.945;DP=847;ExcessHet=0.0000;FS=1.841;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.71;ReadPosRankSum=-1.014e+00;SOR=0.446	GT:AD:DP:GQ:PL	0/1:54,32:86:99:849,0,1634	20	0	1	0
chr19	44157362	44157362	C	T	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon6:c.C1346T:p.A449V	.	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.103	B	0.047	B	.	.	1.000	N	0.44	N	3.45	T	-0.929	T	0.011	T	0.029	-0.142	3.304	0.606	0.413	-0.677	4.926	0.028	0.00217007983397	.	0.00119808	0.0007	0	8.654e-05	0	0	0	0	0.0048	0.0005757	89	154602	rs200416333	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	0	0	0.0003	8.994e-07	0.0003	0.0044	0.0002	0.0002	3.857e-05	0.0003	0.0050	0.0001	9.7e-05	0.0034	0.0029	2.407e-05	0	0	0	0	0	0	0	0	0.0050	1.0	0.00964	T	0.346	0.17696	T	0.103	0.25884	B	0.047	0.24832	B	.	.	.	.	1	0.08975	N	-0.915	0.01320	N	3.45	0.05311	T	1.56	0.00685	N	0.047	0.01911	-0.9288	0.44313	T	0.011	0.03949	T	9	0.0058014393	0.00129	T	0.00217	0.04071	T	0.028	0.06331	.	.	0.285316908763	0.28143	0.018705925976338113	0.01824	0.430749926923	0.43306	0.26630923152	0.05666	T	0.001439	0.00900	T	-0.747373	0.00018	T	-0.845785	0.01015	T	0.0518936223871702	0.05829	T	0.851815	0.53646	D	0.016544238	0.00205	0.09570097	0.22708	0.016544238	0.00205	0.09570097	0.22708	-0.672	0.00700	T	.	.	0.202	0.42635	B	.;.	.;.	0.515701	0.08847	5.624	0.88922531383391779	0.18364	0.04653	0.10326	N	AEFBI	0.031485	0.03379	N	-0.864144567652344	0.11704	0.5662627	-0.858409223411678	0.13085	0.6768871	0.0018049377738828	0.08901	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.04	0.606	0.16736	-0.489000	0.06570	.	.	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.0:0.5969:0.1817:0.2214	4.926	0.13244	851	0.35303	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.04762	3147.11	44	chr19	44157362	.	C	T	3147.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.31;DP=980;ExcessHet=0.1072;FS=0.973;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.189;SOR=0.789	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1448,0,1860	19	0	2	0
chr19	45144962	45144962	C	T	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon9:c.C1096T:p.L366F,	.	.	406	1102	14	0	0	14	0.00631199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.014	N	1.000	D	2.645	M	-1.5	D	0.031	D	0.435	T	0.878	4.049	20.8	3.63	1.193	2.940	10.267	0.828	.	.	0.00299521	0.0055	0.0018	0.0110	0	0	0.0048	0.0076	0.0061	0.0020828	322	154602	rs146723120	0.0098	0.0093	0.0099	0.0098	0.0113	0.0097	0.0096	0.0111	0.0110	0.0016	0.0026	0.0008	2.801e-05	0.0110	0.0033	0.0113	0.0078	0.0054	0.0077	0.0077	0.0077	0.0076	0.0117	0.0073	0.0072	0.0111	0.0108	0.0022	0.0493	0.0022	0.0006	0.0004	0.0141	0	0.0117	0.0038	0.0072	0.004	0.65419	D	0.086	0.40909	T	.	.	.	.	.	.	0.013611	0.28787	N	0.318910	0.999719	0.48481	D	2.85	0.82803	M	-1.5	0.81318	D	-3.37	0.66665	D	0.868	0.86511	0.031	0.82872	D	0.435	0.77510	T	8	0.013455033	0.00285	T	.	.	.	0.828	0.94541	.	.	0.598116539115	0.59492	0.7204627216306844	0.71989	.	.	0.755184829235	0.75213	T	0.252006	0.62233	T	0.0177854	0.54082	T	0.263159	0.86239	D	0.0185308713044781	0.00569	T	0.905609	0.66735	D	0.30629918	0.53463	0.31038934	0.57050	0.30629918	0.53463	0.31038934	0.57049	-7.431	0.57123	T	.	.	0.875	0.81176	P	.	.	4.347695	0.66745	25.0	0.99879613756968999	0.95572	0.84915	0.44010	D	AEFDBI	0.479137	0.52141	N	0.273710996863994	0.54821	3.64675	0.257900779730125	0.53099	3.480709	0.999716271027713	0.42101	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.66	3.63	0.40741	3.234000	0.51019	3.942000	0.40610	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.972000	0.54974	0.0:0.9035:0.0:0.0965	10.267	0.42637	929	0.16858	.	.	.	.	.	rs146723120	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	0.04762	1816.11	36	chr19	45144962	.	C	T	1816.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.541;DP=795;ExcessHet=0.1072;FS=0.624;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.542;SOR=0.632	GT:AD:DP:GQ:PL	0/1:40,34:74:99:747,0,1092	19	0	2	0
chr19	45213213	45213213	G	T	exonic	EXOC3L2	.	nonsynonymous SNV	EXOC3L2:NM_001382422:exon12:c.C2265A:p.D755E,	.	.	408	1113	1	0	0	1	0.000449035	.	.	2109278	not_provided|EXOC3L2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.905	P	0.416	B	0.000	D	1.000	N	1.1	L	2.93	T	-1.059	T	0.016	T	0.13	2.322	13.72	4.53	2.073	0.571	12.770	0.094	0.0241328420846	0.0012	0.00159744	0.0010	0.0001	0.0028	0	0	0.0011	0	0.0007	0.0009896	153	154602	rs111862689	0.0012	0.0012	0.0012	0.0011	0.0025	0.0011	0.0011	0.0022	0.0020	0.0002	0.0025	0	0	0.0002	0.0009	0.0013	0.0009	0.0007	0.0010	0.0010	0.0009	0.0011	0.0023	0.0009	0.0008	0.0017	0.0015	0.0003	0	0.0023	0	0.0002	9.418e-05	0	0.0014	0.0019	0.0014	0.602	0.05601	T	0.267	0.22561	T	0.905	0.49920	P	0.416	0.44962	B	0.000034	0.55875	D	0.118478	0.978518	0.25243	N	1.265	0.31966	L	2.93	0.09822	T	-0.7	0.19933	N	0.139	0.13769	-1.0591	0.11981	T	0.016	0.06329	T	10	0.010788709	0.00239	T	0.024133	0.47114	T	0.094	0.27141	0.395	0.42099	0.043077524339	0.03247	0.456957943233207	0.45613	0.289761338798	0.31384	0.835615336895	0.87424	D	0.006824	0.06247	T	-0.597484	0.00151	T	-0.636258	0.09944	T	0.0200335428245645	0.00704	T	0.584142	0.21248	T	0.2318413	0.45962	0.15980655	0.37252	0.2467644	0.47648	0.17914832	0.40630	-3.809	0.20939	T	.	.	0.183	0.39697	B	.;.	.;.	1.933580	0.24560	16.44	0.99562167959620973	0.71831	0.77030	0.37830	D	AEFDBI	0.324328	0.42625	N	-0.0235066998645635	0.40793	2.428679	0.0477010470740172	0.41962	2.529826	0.010728221917156	0.12071	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	1.088000	0.30489	4.998000	0.46575	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	12.770	0.56793	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	765.98	33	chr19	45213213	.	G	T	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-2.590e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:47,33:80:99:780,0,1218	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38,0,0:38:99:1|1:49154453_ACAT_A:1542,115,0,1460,180,1738,1460,180,1738,1738:49154453	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38,0,0:38:99:1|1:49154453_ACAT_A:1542,115,0,1460,180,1738,1460,180,1738,1738:49154453	5	4	8	0
chr19	49190772	49190772	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon11:c.G1147A:p.G383R	Progressive familial heart block, type IB, Autosomal dominant	.	1	1503	18	0	0	18	0.00595238	0	0.008	471078	not_specified|Hypertrophic_cardiomyopathy|not_provided|TRPM4-related_disorder|Cardiovascular_phenotype|Progressive_familial_heart_block_type_IB	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C3661900|MedGen:CN239424|MedGen:CN230736|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.993	D	0.713	P	0.559	N	1.000	N	1.15	L	-0.23	T	-0.784	T	0.244	T	0.058	-0.119	3.417	-7.16	-1.219	-0.970	5.659	0.052	.	0.0016	0.00339457	0.0021	0.0007	0.0010	0	0	0.0017	0.0011	0.0076	0.0019663	304	154602	rs145847114	0.0019	0.0019	0.0017	0.0021	0.0080	0.0019	0.0018	0.0069	0.0067	0.0004	0.0016	0.0023	0	5.616e-05	0.0080	0.0016	0.0023	0.0073	0.0019	0.0019	0.0017	0.0020	0.0081	0.0017	0.0016	0.0061	0.0054	0.0006	0	0.0045	0.0032	0.0002	0	0.0068	0.0020	0.0024	0.0081	0.351	0.31532	T	0.383	0.44905	T	0.029	0.65571	B	0.004	0.54588	B	0.559069	0.11355	N	0.765258	0.999998	0.18198	N	1.215	0.30540	L	-0.78	0.73631	T	-0.86	0.23372	N	0.106	0.17140	-0.7843	0.56059	T	0.244	0.61272	T	10	0.0053512156	0.00158	T	.	.	.	0.052	0.14661	0.207	0.12356	0.414021929199	0.41020	0.29411502003148443	0.29324	0.341058034284	0.36042	0.426400899887	0.28717	T	0.113814	0.43114	T	-0.560977	0.00250	T	-0.574995	0.14994	T	0.0012355460696675	0.00012	T	0.631737	0.24648	T	0.055500925	0.10794	0.04793476	0.07013	0.07357339	0.16450	0.06681196	0.13737	-4.552	0.31563	T	.	.	0.080	0.07985	B	.;.	.;.	-0.448845	0.02037	0.184	0.38968747206885496	0.02660	0.00947	0.03649	N	AEFDBI	0.035433	0.04561	N	-1.65416017566898	0.01017	0.04411651	-1.80202939046551	0.00752	0.03355292	0.0736113551052467	0.15640	0.615465	0.37627	0	0.578056	0.33634	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.82	-7.16	0.01364	-0.841000	0.04467	-0.546000	0.08555	-0.890000	0.02392	0.001000	0.13787	0.000000	0.08366	0.246000	0.23158	0.505:0.2724:0.2225:0.0	5.659	0.16932	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4123.11	203	chr19	49190772	.	G	A	4123.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.23;DP=1068;ExcessHet=0.1072;FS=3.563;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=1.06;SOR=0.520	GT:AD:DP:GQ:PL	0/1:83,64:147:99:1580,0,2158	19	0	2	0
chr19	50658956	50658956	C	G	exonic	C19orf81	.	nonsynonymous SNV	C19orf81:NM_001195076:exon5:c.C411G:p.I137M,	.	.	423	1079	18	2	0	22	0.0100917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	0.975	L	.	.	-0.974	T	0.110	T	0.584	2.494	14.30	3.02	1.725	0.855	11.355	0.115	.	.	0.000798722	0.0087	0	0	0	0	0	0	0.0139	0.000401	62	154602	rs576875269	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0066	0.0064	3.386e-05	3.178e-05	0	6.041e-05	0	0.0029	3.525e-05	0.0007	0.0071	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	4.412e-05	0	0.0077	0.011	0.55530	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	0.948325	0.81001	N	2.215	0.62545	M	.	.	.	-1.56	0.37759	N	0.578	0.59986	-0.9735	0.36453	T	0.110	0.39556	T	6	0.0043836236	0.00089	T	.	.	.	0.115	0.32236	0.318	0.29581	0.0611884634855	0.05136	0.1606151003303864	0.15982	.	.	.	.	.	0.166005	0.51207	T	-0.269539	0.11809	T	-0.156365	0.58677	T	0.1091815034209	0.13338	T	0.660634	0.26999	T	0.17826484	0.38836	0.27475694	0.53406	0.17826484	0.38836	0.27475694	0.53405	-4.642	0.32695	T	.	.	0.358	0.57085	A	.;.	.;.	3.016191	0.40355	21.1	0.99108971388781708	0.52674	0.50750	0.28735	D	AEFGBHCIJ	0.211453	0.33724	N	-0.212200193034917	0.32632	1.84245	-0.264224584712698	0.29286	1.639538	0.999999999999841	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.02	3.02	0.33970	1.203000	0.31890	1.593000	0.27541	-0.176000	0.10722	0.165000	0.23867	0.999000	0.35428	0.132000	0.19645	0.0:1.0:0.0:0.0	11.355	0.48852	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	480.98	35	chr19	50658956	.	C	G	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.924;DP=757;ExcessHet=0.0000;FS=2.340;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=1.72;SOR=1.077	GT:AD:DP:GQ:PL	0/1:34,21:55:99:495,0,847	20	0	1	0
chr19	51415921	51415921	C	T	exonic	SIGLEC10	.	nonsynonymous SNV	SIGLEC10:NM_001171156:exon5:c.G827A:p.R276Q	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.903	P	0.49	P	0.676	N	1.000	N	1.31	L	-0.22	T	-0.916	T	0.186	T	0.213	2.636	14.77	-0.49	0.451	0.160	1.811	0.109	0.0260397640435	0.0004	0.00119808	0.0003	0.0006	0.0003	0.0001	0.0003	0.0004	0	0.0002	0.0003622	56	154602	rs143183042	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0002	0.0003	0.0003	8.982e-05	0.0001	3.826e-05	0.0005	0.0001	0.0008	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	0	6.533e-05	0.0003	0.0002	0	0	0.0004	0.0009	0.0004	0.44	0.26852	T	0.622	0.34477	T	0.764	0.46778	P	0.212	0.43079	B	0.675948	0.10300	N	0.829753	1	0.08975	N	1.88	0.49984	L	-0.22	0.66474	T	-1.9	0.51811	N	0.153	0.18376	-0.9157	0.46129	T	0.186	0.53601	T	10	0.019243777	0.00427	T	0.02604	0.48976	D	0.109	0.30843	.	.	0.661991603742	0.65915	0.3174314332620003	0.31656	.	.	0.264964997768	0.05497	T	0.052337	0.29133	T	-0.370192	0.03584	T	-0.453375	0.27325	T	0.0439015832343278	0.04403	T	0.039996	0.00576	T	0.060906645	0.12551	0.06064661	0.11584	0.060906645	0.12551	0.06064661	0.11584	-7.431	0.58569	T	.	.	0.090	0.15296	B	.;.;.;.;.;.	.;.;.;.;.;.	1.929404	0.24505	16.42	0.99775304006682908	0.86260	0.01521	0.05017	N	AEFDBI	0.102492	0.20559	N	-0.546242226982312	0.20601	1.087241	-0.658708700406368	0.17997	0.9594736	0.776773686024511	0.23765	0.706298	0.61202	0	0.709663	0.81188	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	4.37	-0.49	0.11448	0.019000	0.13337	.	.	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.335000	0.25317	0.3586:0.3558:0.1754:0.1103	1.811	0.02903	976	0.04745	.;.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1168.98	36	chr19	51415921	.	C	T	1168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-01;DP=1345;ExcessHet=0.0000;FS=0.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.28;MQRankSum=-4.544e+00;QD=10.82;ReadPosRankSum=-1.048e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1183,0,1452	20	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,28:49:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:1081,1148,2035,0,887,802:52384817	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	3280.27	29	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA,GAT,GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3280.27	.	AC=3,3,2;AF=0.071,0.071,0.048;AN=42;BaseQRankSum=1.87;DP=1287;ExcessHet=3.5521;FS=78.611;InbreedingCoeff=-0.2353;MLEAC=3,3,2;MLEAF=0.071,0.071,0.048;MQ=58.72;MQRankSum=-1.592e+00;QD=8.99;ReadPosRankSum=-1.672e+00;SOR=8.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,13,0,0:35:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:479,0,885,546,924,1470,546,924,1470,1470:52384817	13	0	3	0
chr19	53141845	53141845	C	T	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.G986A:p.R329Q	.	.	.	.	.	.	.	.	.	.	.	2315687	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.122	B	0.005	B	.	.	1.000	N	0.275	N	2.46	T	-0.967	T	0.014	T	0.132	-1.283	0.041	-5.29	-1.684	-4.083	2.387	0.008	0.00146940823506	0.0002	.	8.245e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs201164394	3.763e-05	3.762e-05	3.131e-05	4.401e-05	0.0003	2.96e-05	2.656e-05	6.092e-05	2.662e-05	2.987e-05	0	0	0	0	0.0003	3.687e-05	6.624e-05	8.119e-05	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.122	0.26746	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	2.46	0.14907	T	0.8	0.01866	N	0.029	0.01203	-0.9668	0.37854	T	0.014	0.05561	T	9	0.041943014	0.02897	T	0.001469	0.02241	T	0.008	0.00669	.	.	0.126345400529	0.12197	0.04111155052951969	0.04056	0.0127212984453	0.01221	0.215758189559	0.01079	T	0.00807	0.07427	T	-0.495858	0.00603	T	-0.768514	0.02817	T	0.0305357240594444	0.02072	T	0.80292	0.44963	T	0.017311966	0.00262	0.027794179	0.00959	0.017311966	0.00262	0.027794179	0.00959	-2.838	0.08538	T	.	.	0.203	0.48746	B	.;.;.	.;.;.	0.590121	0.09587	6.360	0.25861535951299097	0.01212	0.00409	0.02034	N	AEFBI	0.021746	0.01003	N	-1.81007432722735	0.00521	0.02242105	-1.91194196771279	0.00464	0.02052453	4.18406458160336E-4	0.06899	0.562547	0.31514	0	0.667123	0.63270	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.65	-5.29	0.02535	-4.937000	0.00197	.	.	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1321:0.3976:0.1335:0.3369	2.387	0.04103	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.02381	1725.98	33	chr19	53141845	.	C	T	1725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=1082;ExcessHet=0.0000;FS=6.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=1.44;SOR=0.397	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1740,0,1732	20	0	1	0
chr19	54074944	54074944	C	T	exonic	TARM1	.	nonsynonymous SNV	TARM1:NM_001135686:exon3:c.G241A:p.E81K	.	.	431	1080	11	0	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.01	B	.	.	1.000	N	1.475	L	5.73	T	-0.895	T	0.002	T	0.217	1.221	9.955	0.242	0.156	-0.557	6.107	0.030	.	0.0002	0.00239617	0.0037	0	0	0	0	0.0001	0.0053	0.0090	0.0006598	102	154602	rs2361558	0.0010	0.0010	0.0008	0.0012	0.0092	0.0009	0.0009	0.0086	0.0084	0.0001	0.0002	0	0.0002	6.088e-05	0.0037	0.0005	0.0009	0.0092	0.0007	0.0007	0.0006	0.0008	0.0106	0.0006	0.0005	0.0083	0.0075	0.0002	0	0.0002	0.0003	0.0008	0	0	0.0004	0.0019	0.0106	0.331	0.13088	T	0.188	0.28669	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	-2.44	0.53420	N	0.114	0.10198	-0.8948	0.48502	T	0.002	0.00769	T	9	0.00880295	0.00199	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.42401353879973813	0.42318	.	.	0.301901340485	0.10684	T	.	.	.	-0.642795	0.00080	T	-0.690275	0.06373	T	0.00751033893248963	0.00087	T	0.555444	0.19245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41495	B	.;.	.;.	0.687277	0.10558	7.267	0.86566229100844183	0.16622	0.03546	0.08744	N	AEFBI	0.037680	0.05218	N	-1.41366592332775	0.02518	0.1113028	-1.45502494045766	0.02725	0.1258528	1.67188451860623E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.6	0.242	0.14759	-0.482000	0.06623	.	.	-2.859000	0.00171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6639:0.0:0.3361	6.107	0.19301	994	0.00715	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	0.07143	3807.66	36	chr19	54074944	.	C	T	3807.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.56;DP=1011;ExcessHet=0.0000;FS=2.697;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=-8.860e-01;SOR=0.919	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2458,242,0	19	1	1	0
chr19	54274725	54274725	-	GAG	exonic	LILRB2	.	nonframeshift insertion	LILRB2:NM_001278404:exon13:c.1406_1407insCTC:p.P469delinsPS	.	.	9	1500	9	4	0	17	0.00563474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs771433769	0.0022	0.0035	0.0013	0.0030	0.0283	0.0021	0.0021	0.0274	0.0270	0.0001	0.0008	0	0.0046	3.744e-05	0.0046	0.0004	0.0022	0.0283	0.0022	0.0031	0.0016	0.0028	0.0460	0.0020	0.0019	0.0410	0.0390	0.0003	0	0.0009	0	0.0039	9.436e-05	0.0068	0.0011	0.0010	0.0460	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	416.94	40	chr19	54274725	.	A	AGAG	416.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=824;ExcessHet=0.0000;FS=19.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.58;MQRankSum=-9.233e+00;QD=4.34;ReadPosRankSum=0.030;SOR=2.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:54274725_A_AGAG:431,0,3311:54274725	20	0	1	0
chr19	54274728	54274729	TT	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1403_1404del:p.E468fs	.	.	10	1499	9	4	0	17	0.00563847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	0	0	0.0002	0	0	0.0001	0.0001153	3	26028	rs781576541	0.0023	0.0035	0.0014	0.0032	0.0305	0.0022	0.0022	0.0295	0.0291	0.0001	0.0009	0	0.0048	3.744e-05	0.0051	0.0004	0.0022	0.0305	0.0023	0.0031	0.0017	0.0029	0.0485	0.0021	0.0020	0.0433	0.0413	0.0003	0	0.0009	0	0.0039	9.423e-05	0.0068	0.0011	0.0014	0.0485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	447.94	40	chr19	54274727	.	GTT	G	447.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.44;DP=824;ExcessHet=0.0000;FS=21.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.55;MQRankSum=-9.290e+00;QD=4.62;ReadPosRankSum=0.349;SOR=2.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,17:97:99:0|1:54274725_A_AGAG:462,0,3308:54274725	20	0	1	0
chr19	54274733	54274733	T	-	exonic	LILRB2	.	frameshift deletion	LILRB2:NM_001278404:exon13:c.1399delA:p.R467fs	.	.	9	1501	8	4	0	16	0.00530152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.649e-05	0	0	0	0.0002	0	0	6.094e-05	.	.	.	rs745907042	0.0024	0.0034	0.0015	0.0034	0.0321	0.0024	0.0023	0.0311	0.0307	0.0002	0.0009	0	0.0049	3.744e-05	0.0052	0.0004	0.0024	0.0321	0.0024	0.0031	0.0018	0.0030	0.0488	0.0022	0.0021	0.0436	0.0416	0.0003	0	0.0009	0	0.0045	9.427e-05	0.0068	0.0011	0.0014	0.0488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	444.94	40	chr19	54274732	.	CT	C	444.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=826;ExcessHet=0.0000;FS=21.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.47;MQRankSum=-9.342e+00;QD=4.54;ReadPosRankSum=0.127;SOR=2.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,17:98:99:0|1:54274725_A_AGAG:459,0,3329:54274725	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|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	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,87,0:291:99:0|1:54633108_T_G:3039,0,8192,3653,8454,12107:54633108	1	0	19	0
chr19	54636844	54636844	T	A	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001278398:exon14:c.T1871A:p.V624E	.	.	12	1457	53	0	0	53	0.0178632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	.	.	1.000	N	-2.63	N	7.72	T	-0.927	T	0.000	T	0.18	-2.393	0.003	-0.185	-0.103	0.395	1.912	0.047	.	.	0.0373403	0.0174	0.0731	0.0047	0.0042	0	0.0022	0.0099	0.0666	0.001229	190	154602	rs200208553	0.0029	0.0066	0.0022	0.0036	0.0311	0.0028	0.0028	0.0301	0.0297	0.0206	0.0027	3.835e-05	0.0010	5.617e-05	0.0062	0.0006	0.0042	0.0311	0.0005	0.0037	0.0004	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	0.0005	0	0.0001	0	0.0010	0	0	0.0002	0	0.0079	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	7.72	0.00354	T	2.75	0.00255	N	0.101	0.14196	-0.9267	0.44616	T	0.000	0.00039	T	9	0.0038897693	0.00074	T	.	.	.	0.047	0.12962	.	.	.	.	0.01539496993135938	0.01495	0.0875308799902	0.09869	0.356790602207	0.18917	T	0.002021	0.02217	T	-0.666268	0.00058	T	-0.700548	0.05796	T	0.00808306671237689	0.00096	T	0.421758	0.11220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00112	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.101727	0.03631	0.720	0.43902963067046641	0.03338	0.00018	0.00208	N	AEFDBI	0.043169	0.06790	N	-2.03654416394117	0.00176	0.007556117	-1.94011838139244	0.00407	0.01799656	6.62834000225161E-4	0.07575	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.1	-0.185	0.12624	0.236000	0.17745	.	.	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5571:0.0:0.1723:0.2706	1.912	0.03089	814	0.42100	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	315.98	33	chr19	54636844	.	T	A	315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.912;DP=933;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=-9.983e+00;QD=1.85;ReadPosRankSum=-1.489e+00;SOR=0.604	GT:AD:DP:GQ:PL	0/1:144,27:171:99:330,0,3994	20	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:296,62:358:99:619,0,8849	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:168,70,0:238:99:1398,0,5018,1903,5229,7131	6	0	14	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D,	.	.	438	644	313	127	0	567	0.30566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	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	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/1:172,112:284:99:2294,0,4729	6	2	12	1
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T,	.	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/1:209,110:319:99:3070,0,5722	6	2	12	1
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C,	.	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	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	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,104:320:99:0|1:54752445_C_T:3688,0,8672:54752445	6	2	12	1
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T,	.	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	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	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,58:287:99:0|1:54752482_T_C:1716,0,9355:54752482	7	2	11	1
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K,	.	.	471	887	74	90	0	254	0.125247	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	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	1	0	0	0	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,31:242:99:0|1:54752511_G_A:667,0,8618:54752511	11	2	7	1
chr19	54758607	54758607	G	C	splicing	LOC112267881	NM_001368251:exon3:c.71-1G>C	.	.	.	.	431	1048	34	9	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.000401	62	154602	rs200443054	0.0058	0.0060	0.0052	0.0065	0.0206	0.0057	0.0057	0.0198	0.0194	0.0006	0.0021	0.0011	0	0.0009	0.0173	0.0055	0.0070	0.0206	0.0036	0.0036	0.0035	0.0037	0.0187	0.0033	0.0032	0.0155	0.0144	0.0007	0	0.0029	0.0009	0.0006	0.0005	0.0174	0.0051	0.0069	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4370.11	36	chr19	54758607	.	G	C	4370.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.160e-01;DP=2026;ExcessHet=0.1072;FS=5.707;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=38.04;MQRankSum=5.86;QD=18.44;ReadPosRankSum=-6.100e-02;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,64:143:99:.:.:1771,0,2603	19	0	2	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,31:263:99:0|1:54760643_A_G:603,0,9536:54760643	8	0	13	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,32:268:99:0|1:54760643_A_G:633,0,9766:54760643	8	0	13	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,36:267:99:0|1:54760643_A_G:816,0,9591:54760643	7	0	14	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,36:256:99:0|1:54760643_A_G:849,0,9129:54760643	7	0	14	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,38:248:99:0|1:54760643_A_G:964,0,8638:54760643	7	0	14	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN,	.	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,38:241:99:0|1:54760643_A_G:985,0,8344:54760643	7	0	14	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:228,230,0:458:99:.:.:5305,0,5544,6511,6694,15830	10	4	5	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H	.	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.444	B	0.198	B	.	.	1.000	N	1.695	L	2.03	T	-1.006	T	0.041	T	0.396	0.186	5.000	-1.93	-0.374	-0.063	2.604	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	14619.01	48	chr19	54773464	.	G	C	14619.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=4.28;DP=7976;ExcessHet=4.7172;FS=6.777;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.69;MQRankSum=-1.747e+01;QD=2.88;ReadPosRankSum=-1.077e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:439,57:496:99:.:.:834,0,17557	12	0	9	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G	.	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.1	B	0.33	B	.	.	1.000	N	2.97	M	2.06	T	-0.864	T	0.092	T	0.345	0.514	6.788	0.116	0.106	0.120	3.815	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	25978.01	48	chr19	54773510	.	C	G	25978.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.190e+00;DP=8922;ExcessHet=4.7172;FS=3.446;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.57;MQRankSum=-2.189e+01;QD=4.42;ReadPosRankSum=1.88;SOR=1.040	GT:AD:DP:GQ:PL	0/1:489,72:561:99:1510,0,15084	12	0	9	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	.	.	1.000	N	0.49	N	5.87	T	-0.847	T	0.002	T	0.263	-1.490	0.017	-2.21	-4.826	-0.493	2.064	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1586.96	39	chr19	54775425	.	A	G	1586.96	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.62;DP=5430;ExcessHet=0.6776;FS=5.399;InbreedingCoeff=-0.1039;MLEAC=4;MLEAF=0.095;MQ=56.79;MQRankSum=-9.969e+00;QD=0.97;ReadPosRankSum=0.585;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,30:444:13:0|1:54775425_A_G:13,0,17293:54775425	17	0	4	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N	.	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-0.46	N	5.73	T	-0.937	T	0.001	T	0.203	-1.489	0.017	-6.75E-4	-0.370	-0.102	2.428	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	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	0.09524	1828.11	39	chr19	54775427	.	G	C	1828.11	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.30;DP=5424;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1085;MLEAC=4;MLEAF=0.095;MQ=56.78;MQRankSum=-1.042e+01;QD=1.12;ReadPosRankSum=0.317;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:415,33:448:84:0|1:54775425_A_G:84,0,17282:54775425	17	0	4	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P	.	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.002	B	0.0	B	.	.	1.000	N	-1.22	N	5.92	T	-0.954	T	0.001	T	0.297	-2.721	0	-0.052	-0.373	-0.293	5.420	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	1833.97	39	chr19	54775428	.	T	C	1833.97	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.00;DP=5430;ExcessHet=0.6776;FS=7.082;InbreedingCoeff=-0.1062;MLEAC=4;MLEAF=0.095;MQ=56.76;MQRankSum=-1.055e+01;QD=1.12;ReadPosRankSum=0.195;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,33:447:87:0|1:54775425_A_G:87,0,17200:54775425	17	0	4	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R	.	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.006	B	0.024	B	0.135	U	1.000	N	0.395	N	2.65	T	-1.000	T	0.021	T	0.122	-0.252	2.787	-1.57	-0.635	-1.621	2.076	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	513.42	37	chr19	54804844	.	A	G	513.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-5.090e-01;DP=1526;ExcessHet=1.1607;FS=2.426;InbreedingCoeff=-0.1348;MLEAC=5;MLEAF=0.119;MQ=59.00;MQRankSum=-1.152e+01;QD=0.68;ReadPosRankSum=-8.850e-01;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,13:177:52:0|1:54804844_A_G:52,0,6807:54804844	16	0	5	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L	.	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.055	B	0.007	U	1.000	N	0.995	L	2.62	T	-0.999	T	0.029	T	0.188	0.031	4.173	-2.81	-1.080	-0.485	5.745	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	719.03	37	chr19	54804865	.	G	T	719.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.45;DP=1630;ExcessHet=1.7912;FS=7.115;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.85;MQRankSum=-1.237e+01;QD=0.67;ReadPosRankSum=1.33;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,15:196:85:0|1:54804844_A_G:85,0,7555:54804844	15	0	6	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R	.	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.016	B	0.014	B	.	.	1.000	N	-0.165	N	2.75	T	-0.922	T	0.011	T	0.325	-2.184	0.005	1.42	0.897	-0.253	4.935	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	605.02	37	chr19	54804871	.	A	G	605.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.129;DP=1668;ExcessHet=1.7912;FS=5.545;InbreedingCoeff=-0.1665;MLEAC=6;MLEAF=0.143;MQ=58.89;MQRankSum=-1.263e+01;QD=0.54;ReadPosRankSum=1.81;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,15:204:61:0|1:54804844_A_G:61,0,7891:54804844	15	0	6	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,86,15:204:99:.:.:2306,0,2603,2168,2496,7398	8	1	9	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L	.	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.003	B	0.331	N	1.000	N	-0.67	N	5.87	T	-0.912	T	0.001	T	0.153	-2.839	0	-2.83	-4.059	-2.987	0.680	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	464.49	37	chr19	54804880	.	G	T	464.49	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.66;DP=2756;ExcessHet=1.1607;FS=5.535;InbreedingCoeff=-0.1357;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.298e+01;QD=0.50;ReadPosRankSum=2.90;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,15:215:28:0|1:54804844_A_G:28,0,8353:54804844	16	0	5	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T	.	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.005	B	0.568	U	1.000	N	0.865	L	2.81	T	-0.967	T	0.015	T	0.067	-0.363	2.287	-2.83	-1.188	-0.877	0.111	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	446.36	37	chr19	54804889	.	A	C	446.36	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.433;DP=2783;ExcessHet=1.1607;FS=5.552;InbreedingCoeff=-0.1320;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.310e+01;QD=0.47;ReadPosRankSum=3.56;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,15:219:16:0|1:54804844_A_G:16,0,8521:54804844	16	0	5	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R	.	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.879	P	0.624	P	0.370	N	1.000	N	0.82	L	2.61	T	-1.047	T	0.034	T	0.121	-1.268	0.045	-2.83	-2.561	-4.420	4.699	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	783.55	37	chr19	54804898	.	C	G	783.55	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.74;DP=2825;ExcessHet=1.7912;FS=7.378;InbreedingCoeff=-0.1525;MLEAC=5;MLEAF=0.119;MQ=58.83;MQRankSum=-1.325e+01;QD=0.63;ReadPosRankSum=3.30;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,15:224:1:0|1:54804844_A_G:1,0,8731:54804844	15	0	6	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E	.	.	408	993	118	3	0	124	0.0587678	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.812	N	1.000	N	-2.29	N	6.0	T	-0.932	T	0.001	T	0.074	-2.172	0.005	-1.41	-0.207	0.049	3.979	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1459.03	37	chr19	54804909	.	A	G	1459.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.63;DP=2839;ExcessHet=1.7912;FS=11.097;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.65;MQRankSum=-1.377e+01;QD=1.16;ReadPosRankSum=1.42;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,20:228:99:0|1:54804844_A_G:214,0,8674:54804844	15	0	6	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K	.	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.590	N	1.000	N	1.44	L	2.74	T	-0.969	T	0.025	T	0.171	-0.507	1.679	-2.83	-0.790	-3.738	0.540	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	2793.02	37	chr19	54804943	.	G	A	2793.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.64;DP=2966;ExcessHet=1.7912;FS=4.369;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=58.46;MQRankSum=-1.419e+01;QD=2.03;ReadPosRankSum=-1.957e+00;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,25:234:99:0|1:54804844_A_G:421,0,8701:54804844	15	0	6	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,27:242:99:0|1:54804844_A_G:487,0,8947:54804844	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,28:239:99:0|1:54804844_A_G:541,0,8776:54804844	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,25:240:99:0|1:54804844_A_G:403,0,8932:54804844	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,25:241:99:0|1:54804844_A_G:400,0,8951:54804844	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,32:252:99:0|1:54805010_A_G:681,0,9141:54805010	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,32:257:99:0|1:54805010_A_G:666,0,9351:54805010	12	0	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,38:261:99:0|1:54805010_A_G:853,0,9245:54805010	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,38:263:99:0|1:54805010_A_G:847,0,9085:54805010	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,71:293:99:0|1:54805068_A_G:2264,0,8664:54805068	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,56:268:99:0|1:54805940_TCTC_T:1713,0,8733:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,60:279:99:0|1:54805940_TCTC_T:1860,0,9015:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,78:309:99:0|1:54805940_TCTC_T:2580,0,9465:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,96:341:99:0|1:54805940_TCTC_T:3276,0,9885:54805940	8	0	13	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3	.	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,126:433:99:0|1:54806072_GGA_G:4347,0,12423:54806072	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,127:432:99:0|1:54806072_GGA_G:4395,0,12354:54806072	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:299,103:402:99:.:.:2432,0,8330	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:278,99:377:99:.:.:2483,0,7918	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:330,50:380:99:.:.:365,0,12709	12	0	9	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G	.	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.197	U	1.000	N	-3.25	N	6.83	T	-0.852	T	0.000	T	0.138	-2.560	0.003	-0.418	-0.115	0.169	3.278	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2204.92	292	chr19	54806161	.	A	G	2204.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.62;DP=3999;ExcessHet=0.6776;FS=20.520;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.03;MQRankSum=-1.615e+01;QD=1.78;ReadPosRankSum=2.51;SOR=3.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,30:263:99:0|1:54806161_A_G:545,0,9449:54806161	17	0	4	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T	.	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.985	D	0.907	P	0.909	N	1.000	N	2.545	M	2.92	T	-1.056	T	0.069	T	0.505	1.229	9.983	0.728	0.685	1.181	4.805	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2129.92	292	chr19	54806170	.	G	C	2129.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=5.00;DP=3969;ExcessHet=0.6776;FS=18.149;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.04;MQRankSum=-1.605e+01;QD=1.76;ReadPosRankSum=1.36;SOR=2.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,30:260:99:0|1:54806161_A_G:566,0,9362:54806161	17	0	4	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L	.	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.254	B	0.094	B	0.006	N	1.000	N	1.09	L	5.85	T	-0.922	T	0.003	T	0.373	0.435	6.361	-0.617	-0.296	-2.050	2.752	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2620.92	292	chr19	54806184	.	T	C	2620.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.05;DP=3954;ExcessHet=0.6776;FS=11.646;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.87;MQRankSum=-1.562e+01;QD=2.19;ReadPosRankSum=-1.234e+00;SOR=2.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,25:246:99:0|1:54806184_T_C:385,0,9114:54806184	17	0	4	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E	.	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.047	B	0.024	B	0.001	N	1.000	N	-0.69	N	5.77	T	-0.841	T	0.002	T	0.074	-3.080	0.001	-1.46	-4.112	-4.698	3.815	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	2659.92	292	chr19	54806191	.	G	A	2659.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.46;DP=3941;ExcessHet=0.6776;FS=11.535;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.88;MQRankSum=-1.562e+01;QD=2.25;ReadPosRankSum=-2.584e+00;SOR=1.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,25:246:99:0|1:54806184_T_C:385,0,9157:54806184	17	0	4	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,98:371:99:0|1:54808838_C_T:3293,0,11073:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,122:407:99:0|1:54808838_C_T:4265,0,11579:54808838	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,121:403:99:0|1:54808838_C_T:4232,0,11457:54808838	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:285,118:403:99:4100,0,7512	7	0	14	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:190,151,64:405:99:.:.:3505,0,5382,1778,3552,11507	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,64:270:99:0|1:54855608_TCTC_T:2067,0,8457:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,64:272:99:0|1:54855608_TCTC_T:2061,0,8539:54855608	6	0	15	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10	.	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3948.51	88	chr19	54855666	.	CAG	C	3948.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.013e+00;DP=3294;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.18;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-6.440e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,22:263:99:0|1:54855666_CAG_C:157,0,10007:54855666	14	0	7	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5	.	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3954.51	88	chr19	54855669	.	G	GCA	3954.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.566;DP=3235;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.30;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-9.070e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,22:263:99:0|1:54855666_CAG_C:157,0,10007:54855666	14	0	7	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,101:230:99:0|1:54865794_T_C:3853,0,5113:54865794	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,99:238:99:0|1:54865794_T_C:3739,0,5539:54865794	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,97:236:99:0|1:54865794_T_C:3655,0,5545:54865794	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,96:232:99:0|1:54865794_T_C:3622,0,5422:54865794	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,97:236:99:0|1:54865794_T_C:3655,0,5545:54865794	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,94:229:99:0|1:54865794_T_C:3541,0,5386:54865794	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,90:212:99:.:.:3392,0,4482	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,87:213:99:0|1:54865794_T_C:3238,0,5023:54865794	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,84:206:99:0|1:54865794_T_C:3124,0,4864:54865794	7	0	13	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,73:285:99:0|1:54866416_T_C:2427,0,8682:54866416	7	0	14	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D	.	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.99	D	.	.	1.000	N	1.81	L	7.17	T	-0.887	T	0.003	T	0.119	0.708	7.775	-2.23	-0.191	0.244	3.962	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.09524	1160.99	140	chr19	54866533	.	A	T	1160.99	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.052;DP=5436;ExcessHet=0.6776;FS=29.613;InbreedingCoeff=-0.1067;MLEAC=4;MLEAF=0.095;MQ=58.36;MQRankSum=-2.122e+01;QD=0.61;ReadPosRankSum=0.502;SOR=2.870	GT:AD:DP:GQ:PL	0/1:366,35:401:99:278,0,10814	17	0	4	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85,0:85:99:.:.:3794,260,0,3794,260,3794	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85,0:85:99:.:.:3794,260,0,3794,260,3794	0	18	2	0
chr19	55482427	55482427	G	A	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.G1234A:p.A412T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.97	D	0.665	P	0.315	U	0.981	N	0.345	N	3.22	T	-1.035	T	0.022	T	0.327	1.955	12.49	3.4	1.937	1.080	10.578	0.073	.	.	0.000399361	0.0211	0	0.1667	0	0	0	0	0.0242	0.0003105	48	154602	rs563338899	0.0003	0.0003	0.0002	0.0004	0.0054	0.0002	0.0002	0.0049	0.0047	0	0	0	0	0	0	2.019e-06	0.0004	0.0054	0.0001	0.0001	7.753e-05	0.0002	0.0033	7.616e-05	6.313e-05	0.0021	0.0017	4.832e-05	0	0	0	0	0	0	0	0	0.0033	.	.	.	0.428	0.13792	T	.	.	.	.	.	.	0.314833	0.14370	U	0.558639	0.981282	0.25050	N	0.55	0.14455	N	3.23	0.06931	T	.	.	.	0.375	0.41656	-1.0353	0.18762	T	0.022	0.09375	T	10	0.0037401915	0.00069	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.10235508650922537	0.10165	.	.	0.916940689087	0.98082	D	0.002038	0.01442	T	-0.415309	0.01834	T	-0.357662	0.38323	T	0.167262915010088	0.18392	T	0.515049	0.16594	T	0.103358746	0.24429	0.211936	0.45642	0.103358746	0.24429	0.211936	0.45641	-6.29	0.48642	T	.	.	0.234	0.46722	B	.;.	.;.	3.177533	0.43117	21.7	0.99135782682843443	0.53383	0.29635	0.23873	N	AEFDBHCI	0.102283	0.20523	N	-0.0948424049289767	0.37617	2.191192	-0.143223879353482	0.33669	1.928434	0.999992845892264	0.74766	0.205752	0.04085	2	0.550933	0.16991	0	0.459711	0.06710	0	0.727631	0.95156	0	.	.	3.4	3.4	0.38031	3.370000	0.52099	5.950000	0.51632	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.610000	0.31640	0.0:0.0:1.0:0.0	10.578	0.44430	970	0.06235	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	0.02381	393.98	26	chr19	55482427	.	G	A	393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.502;DP=651;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-2.127e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/1:13,17:30:99:408,0,490	20	0	1	0
chr19	58261837	58261837	G	A	exonic	ZNF544	.	nonsynonymous SNV	ZNF544:NM_001320770:exon6:c.G1147A:p.D383N	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.006	B	0.005	B	.	.	1.000	N	0.06	N	2.14	T	-0.969	T	0.017	T	0.021	-0.063	3.692	-2.18	-0.133	-2.964	1.393	0.005	0.00154710597534	.	.	0.0002	0	0	0	0	5.994e-05	0	0.0014	3.84e-05	1	26028	rs755272339	2.263e-05	0.0002	1.501e-05	3.033e-05	0.0004	1.614e-05	1.42e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.002e-07	1.661e-05	0.0004	0.0003	0.0049	0.0003	0.0002	0.0017	0.0002	0.0002	0.0009	0.0006	0.0002	0	7.019e-05	0.0003	0.0017	0.0003	0.0050	0.0001	0.0016	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	2.14	0.19450	T	2.65	0.00200	N	0.071	0.08925	-0.9686	0.37489	T	0.017	0.06902	T	9	0.013374776	0.00284	T	0.001547	0.02445	T	0.005	0.00259	.	.	0.253205268125	0.24938	0.005396124770309474	0.00510	0.0202382991849	0.01983	0.235195860267	0.02374	T	0.006693	0.06116	T	-0.41284	0.01903	T	-0.830793	0.01248	T	0.0531342471336438	0.06042	T	0.237376	0.04045	T	0.020067183	0.00553	0.030749334	0.01571	0.020067183	0.00553	0.030749334	0.01571	-0.003	0.00350	T	.	.	0.089	0.11941	B	.;.;.;.;.	.;.;.;.;.	-0.521135	0.01801	0.140	0.80583517920781367	0.13272	0.00001	0.00044	N	AEFDBHCI	0.021121	0.00906	N	-1.69645841207483	0.00855	0.03696136	-1.73169925077662	0.01004	0.04500134	0.0266820423359579	0.13728	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.549297	0.17558	0	.	.	2.66	-2.18	0.06643	-4.374000	0.00279	-11.344000	0.00613	-0.598000	0.04625	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.4092:0.3164:0.1178:0.1566	1.393	0.02118	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.02381	260.98	34	chr19	58261837	.	G	A	260.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=783;ExcessHet=0.0000;FS=4.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.17;MQRankSum=-6.331e+00;QD=2.97;ReadPosRankSum=-7.570e-01;SOR=1.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,12:88:99:0|1:58261836_T_C:275,0,3135:58261836	20	0	1	0
chr19	58262194	58262194	T	A	exonic	ZNF544	.	nonsynonymous SNV	ZNF544:NM_001320770:exon6:c.T1504A:p.S502T	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.024	B	0.027	B	.	.	1.000	N	-0.64	N	3.21	T	-0.920	T	0.009	T	0.019	0.099	4.531	-1.2	-0.077	-0.883	8.551	0.009	0.00205867148311	.	.	0.0002	0	0	0	0	5.996e-05	0	0.0013	6.5e-06	1	154602	rs780383112	2.395e-05	0.0002	1.225e-05	3.577e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0002	0	0	0	0	0	0.0003	3.598e-06	0	0.0003	2.703e-05	0.0002	1.321e-05	4.152e-05	0.0004	8.32e-06	5.26e-06	7.539e-05	3.121e-05	0	0	0	0	0	0	0	2.992e-05	0	0.0004	1.0	0.00964	T	0.301	0.24694	T	0.024	0.19075	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.98	0.24916	L	3.21	0.07125	T	-1.13	0.29114	N	0.046	0.08227	-0.9198	0.45581	T	0.009	0.03403	T	9	0.014545292	0.00306	T	0.002059	0.03775	T	0.009	0.00846	.	.	0.107399877778	0.10242	0.006489889182557729	0.00616	0.0198160390817	0.01945	0.424367368221	0.28438	T	0.016621	0.16317	T	-0.423906	0.01616	T	-0.846688	0.01003	T	0.0222612926206605	0.00939	T	0.0990901	0.00735	T	0.05838912	0.11741	0.07074216	0.15068	0.05838912	0.11740	0.07074216	0.15067	-2.425	0.05288	T	.	.	0.225	0.51575	B	.;.;.;.;.	.;.;.;.;.	-0.433122	0.02092	0.195	0.65255687798250261	0.07721	0.00001	0.00044	N	AEFDGBHCI	0.029570	0.02817	N	-1.52978405499336	0.01657	0.07246394	-1.54800263535639	0.01990	0.09089584	0.0840016073503968	0.15943	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.8	-1.2	0.09062	-3.114000	0.00659	-10.919000	0.00652	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.793000	0.37436	0.2584:0.0:0.0:0.7416	8.551	0.32610	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.02381	531.98	34	chr19	58262194	.	T	A	531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=789;ExcessHet=0.0000;FS=5.148;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.09;MQRankSum=-6.258e+00;QD=5.60;ReadPosRankSum=0.600;SOR=1.240	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,19:95:99:0|1:58262194_T_A:546,0,3020:58262194	20	0	1	0
chr19	58262202	58262202	T	A	exonic	ZNF544	.	nonsynonymous SNV	ZNF544:NM_001320770:exon6:c.T1512A:p.S504R	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.146	B	0.028	B	.	.	1.000	N	0.86	L	1.2	T	-1.030	T	0.041	T	0.259	-0.221	2.932	-5.6	-1.637	-5.588	2.444	0.021	0.00201317226664	.	.	0.0002	0	0	0	0	4.497e-05	0	0.0013	6.5e-06	1	154602	rs768797258	1.711e-05	0.0002	4.086e-06	3.028e-05	0.0003	1.175e-05	9.93e-06	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	0	0.0003	3.494e-05	0.0002	0	7.145e-05	0.0005	1.322e-05	8.42e-06	7.989e-05	3.251e-05	0	0	0	0	0.0002	0	0	3.075e-05	0	0.0005	0.481	0.08212	T	0.288	0.27056	T	0.146	0.27821	B	0.028	0.21332	B	.	.	.	.	1	0.08975	N	-0.15	0.04376	N	1.2	0.37405	T	-3.04	0.62863	D	0.121	0.21969	-1.0299	0.20487	T	0.041	0.17827	T	9	0.022663563	0.00572	T	0.002013	0.03642	T	0.021	0.04004	0.397	0.42426	0.115124310173	0.11017	0.012809499523976652	0.01239	0.0588636185356	0.06534	0.413453549147	0.26935	T	0.020479	0.24670	T	-0.24554	0.14650	T	-0.590477	0.13625	T	0.0405842674787601	0.03796	T	0.318868	0.06391	T	0.15202467	0.34530	0.12028699	0.29031	0.15202467	0.34530	0.12028699	0.29030	-3.152	0.11903	T	.	.	0.526	0.69456	A	.;.;.;.;.	.;.;.;.;.	-0.030061	0.04080	0.954	0.52857432855293462	0.04828	0.00003	0.00079	N	AEFDGBHCI	0.067637	0.13307	N	-1.68024179853011	0.00914	0.03958185	-1.82282744025209	0.00689	0.03066797	0.995167863684917	0.33984	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.8	-5.6	0.02298	-5.197000	0.00168	-20.000000	0.00162	-0.325000	0.05822	0.000000	0.06391	0.000000	0.08366	0.628000	0.32104	0.1094:0.3579:0.2451:0.2876	2.444	0.04227	964	0.07719	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.02381	446.98	34	chr19	58262202	.	T	A	446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=788;ExcessHet=0.0000;FS=5.259;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.07;MQRankSum=-6.703e+00;QD=4.71;ReadPosRankSum=0.969;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17:95:99:0|1:58262194_T_A:461,0,3165:58262194	20	0	1	0
chr19	58356146	58356146	G	A	exonic	ZNF497	.	nonsynonymous SNV	ZNF497:NM_001207009:exon2:c.C1490T:p.A497V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.188	B	0.001	B	.	.	1.000	N	0.52	N	3.22	T	-0.982	T	0.014	T	0.116	3.013	16.05	1.14	0.946	0.976	8.153	0.073	0.00348551301475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.124e-07	4.788e-06	1.405e-06	0	9.231e-07	0	0	.	.	0	0	0	0	0	0	9.231e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13003	T	0.153	0.32144	T	0.188	0.29318	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.22	0.07024	T	-0.24	0.10833	N	0.086	0.10769	-0.9820	0.34538	T	0.014	0.05561	T	9	0.07361519	0.11145	T	0.003486	0.07878	T	0.073	0.21317	0.299	0.26522	0.270889551736	0.26708	0.03761249592480663	0.03707	0.320533716829	0.34262	0.547949790955	0.45568	T	0.001829	0.01251	T	-0.335217	0.05727	T	-0.719292	0.04830	T	0.223958217380851	0.21660	T	0.354465	0.08000	T	0.025563806	0.01508	0.039834782	0.04167	0.025563806	0.01507	0.039834782	0.04167	-5.675	0.43470	T	.	.	0.086	0.10931	B	.;.	.;.	1.154420	0.15429	11.84	0.99098204323405226	0.52396	0.07912	0.13900	N	AEFDBCI	0.061805	0.11841	N	-0.897117743292596	0.10911	0.5237707	-0.963573660851468	0.10609	0.5354321	0.999997732648777	0.74766	0.713056	0.82018	0	0.759151	0.99529	0	0.608524	0.38960	0	0.56751	0.32155	0	.	.	1.14	1.14	0.19817	0.416000	0.20918	-4.138000	0.02321	0.271000	0.18527	0.001000	0.13787	0.000000	0.08366	0.427000	0.27384	0.0:0.0:1.0:0.0	8.153	0.30310	958	0.09170	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	472.98	41	chr19	58356146	.	G	A	472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.080e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.02;ReadPosRankSum=-3.190e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/1:36,23:59:99:487,0,851	20	0	1	0
chr20	2815357	2815360	GACT	-	exonic	C20orf141	.	frameshift deletion	C20orf141:NM_080739:exon1:c.173_176del:p.L59Qfs*86	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	9.69e-05	0.0003	0	0	0.0011	0.0012	0.0011	0.0003074	8	26028	rs765507987	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0018	0.0017	0.0002	0.0004	0	0	1.894e-05	0.0007	0.0018	0.0008	0.0007	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0005	0.0011	0.0010	0.0001	0	0.0003	0	0	0	0	0.0013	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1584.94	33	chr20	2815356	.	GGACT	G	1584.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=786;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.13;ReadPosRankSum=0.228;SOR=0.641	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1599,0,1304	20	0	1	0
chr20	3231385	3231385	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon7:c.C941T:p.A314V	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	.	0	1496	26	0	0	26	0.00861498	.	.	350834	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.003	B	0.002	B	0.000	N	1.000	N	0	N	-1.46	T	-0.941	T	0.219	T	0.071	1.686	11.60	-1.19	-0.398	-0.422	0.602	0.166	0.0187135128428	0.0008	0.00119808	0.0015	0.0006	0.0006	0	0	0.0008	0	0.0067	0.0012678	196	154602	rs141705330	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	0	0.0004	0.0003	0	0	0.0052	0.0004	0.0007	0.0070	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0002	0	0.0003	0	0	9.416e-05	0.0068	0.0006	0.0009	0.0044	0.354	0.12552	T	0.191	0.31326	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.00162	N	13.587100	1	0.08975	N	0.345	0.11182	N	-1.54	0.81640	D	-0.39	0.13611	N	0.08	0.07673	-0.9407	0.42505	T	0.219	0.58201	T	10	0.0050378144	0.00109	T	0.018714	0.40862	T	0.166	0.42578	.	.	0.642064274222	0.63911	0.306582639853875	0.30571	0.290139097173	0.31421	0.241381689906	0.02915	T	0.101468	0.40826	T	-0.521002	0.00434	T	-0.517294	0.20570	T	0.00439368681966606	0.00047	T	0.536546	0.18022	T	0.029162891	0.02367	0.03209558	0.01894	0.029136235	0.02359	0.026908126	0.00808	-4.487	0.30718	T	0.11561704083363232	0.10363	0.063	0.01692	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.122019	0.05193	1.706	0.9626825965019713	0.29240	0.02514	0.07011	N	AEFDBI	0.049290	0.08500	N	-1.17554916748796	0.05371	0.2447011	-1.18841041539026	0.06102	0.2927229	0.998806152889605	0.37711	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.08	-1.19	0.09091	-0.460000	0.06797	0.496000	0.18948	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2122:0.1472:0.3088:0.3318	0.602	0.00699	452	0.79239	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1874.98	36	chr20	3231385	.	G	A	1874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e+00;DP=1033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.870;SOR=0.741	GT:AD:DP:GQ:PL	0/1:77,81:158:99:1889,0,1824	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:57,24:89:27:27,0,1037	5	0	16	0
chr20	3889432	3889432	-	G	exonic	PANK2	.	frameshift insertion	PANK2:NM_001324192:exon1:c.333dupG:p.L115Afs*66	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive	.	2	1347	162	10	1	183	0.0632823	.	.	1315110	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0011	3.84e-05	1	26028	rs529267374	3.404e-05	3.694e-05	2.247e-05	4.583e-05	0.0005	2.636e-05	2.331e-05	0.0004	0.0003	0	0	0	0	2.506e-05	0	1.833e-06	8.54e-05	0.0005	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3297.39	35	chr20	3889432	.	T	A,TG	3297.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.640;DP=907;ExcessHet=0.3300;FS=2.747;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.397;SOR=0.876	GT:AD:DP:GQ:PL	0/1:30,28,0:58:99:731,0,840,821,924,1745	18	0	2	0
chr20	17643047	17643047	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.G1993A:p.G665S	.	.	.	.	.	.	.	.	.	.	.	3316568	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.66	T	0.984	D	0.902	P	0.002	N	1.000	D	0.795	N	2.18	T	-0.984	T	0.152	T	0.629	4.080	21.0	4.63	1.363	5.907	13.505	0.198	0.0151787807206	.	0.000199681	0.0001	0	0.0003	0	0	0.0002	0	0	0.0001294	20	154602	rs182919204	0.0001	0.0001	0.0001	0.0001	0.0003	9.401e-05	8.883e-05	0.0001	0.0001	0	0.0001	0	0	0	0.0003	0.0001	6.623e-05	4.637e-05	6.566e-05	6.561e-05	3.854e-05	9.401e-05	0.0001	3.514e-05	2.614e-05	4.765e-05	3.339e-05	4.812e-05	0	6.531e-05	0	0	0	0	0.0001	0	0	0.342	0.25979	T	0.239	0.34716	T	0.984	0.60733	D	0.902	0.64047	P	0.002422	0.36574	N	0.000000	0.999997	0.58761	D	1.385	0.34509	L	2.18	0.51952	T	-2.75	0.64132	D	0.728	0.73285	-0.9840	0.34069	T	0.152	0.48118	T	10	0.1511957	0.28584	T	0.015179	0.35761	T	0.198	0.48105	.	.	0.67947023701	0.67674	0.2306478751169884	0.22979	0.479800245105	0.47006	0.501859009266	0.39086	T	0.110	0.42416	T	-0.189627	0.22314	T	-0.230728	0.51702	T	0.430900812149048	0.30094	T	0.952105	0.81652	D	0.08027614	0.18386	0.16474335	0.38148	0.08027614	0.18386	0.16474335	0.38147	-12.023	0.84963	D	.	.	0.129	0.37198	B	.;.;.;.;.;.	.;.;.;.;.;.	3.299342	0.45283	22.1	0.99748870998366068	0.84077	0.94274	0.60646	D	AEFBCI	0.862982	0.78141	D	0.331152024894291	0.57753	3.944044	0.370087410653682	0.59725	4.152997	0.999999994785278	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.56	4.63	0.57175	5.988000	0.70255	4.873000	0.45587	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9248:0.0:0.0752	13.505	0.60933	905	0.23532	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	784.98	37	chr20	17643047	.	C	T	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=808;ExcessHet=0.0000;FS=1.809;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.92;ReadPosRankSum=-2.968e+00;SOR=0.935	GT:AD:DP:GQ:PL	0/1:56,32:88:99:799,0,1375	20	0	1	0
chr20	17643125	17643125	G	A	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon4:c.C1915T:p.P639S	.	.	424	1087	11	0	0	11	0.00503432	.	.	728552	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.01	B	0.005	B	0.228	N	0.998	D	1.59	L	0.82	T	-1.078	T	0.062	T	0.211	1.833	12.09	0.925	0.266	0.455	5.678	0.031	0.0132207433375	0.0020	0.00119808	0.0022	0.0003	0.0030	0	0.0009	0.0033	0.0023	0.0002	0.0021539	333	154602	rs143378274	0.0022	0.0022	0.0023	0.0021	0.0050	0.0021	0.0021	0.0036	0.0031	0.0004	0.0031	0.0081	0	0.0004	0.0050	0.0023	0.0028	0.0003	0.0019	0.0019	0.0020	0.0018	0.0046	0.0017	0.0017	0.0037	0.0034	0.0007	0	0.0046	0.0072	0	0.0003	0.0034	0.0023	0.0028	0.0002	0.178	0.32296	T	0.484	0.18959	T	0.01	0.15535	B	0.005	0.11217	B	0.227983	0.15985	N	0.465175	0.998373	0.44834	D	-0.2	0.04182	N	0.82	0.48142	T	-1.91	0.44471	N	0.226	0.28264	-1.0776	0.07821	T	0.062	0.25708	T	10	0.0039239526	0.00086	T	0.013221	0.32452	T	0.031	0.07369	.	.	0.358134431457	0.35428	0.07527235043713257	0.07463	0.412393024737	0.41979	0.269505441189	0.06076	T	0.101351	0.40803	T	-0.532557	0.00371	T	-0.540494	0.18248	T	0.0102390924461211	0.00139	T	0.639136	0.25234	T	0.018298633	0.00351	0.031990707	0.01867	0.018298633	0.00351	0.031990707	0.01867	-1.269	0.02045	T	.	.	0.063	0.05145	B	.;.;.;.;.	.;.;.;.;.	0.882137	0.12556	9.082	0.96773931413531733	0.31045	0.35115	0.25226	N	AEFBCI	0.357318	0.44839	N	-0.885375518008875	0.11190	0.5386663	-0.891751570331846	0.12288	0.6312676	0.987645813061569	0.31311	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.26	0.925	0.18550	0.452000	0.21508	1.302000	0.25481	0.618000	0.50648	0.039000	0.20931	0.760000	0.26617	0.165000	0.20815	0.2428:0.1542:0.6029:0.0	5.678	0.17032	905	0.23532	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	482.98	37	chr20	17643125	.	G	A	482.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.846e+00;DP=765;ExcessHet=0.0000;FS=9.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=1.06;SOR=2.720	GT:AD:DP:GQ:PL	0/1:23,16:39:99:497,0,725	20	0	1	0
chr20	20196636	20196636	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon16:c.G1657A:p.E553K,	.	.	437	1051	34	0	0	34	0.0159176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.871	P	0.14	B	0.002	N	1.000	D	1.79	L	2.9	T	-1.029	T	0.026	T	0.599	3.470	17.76	4.86	1.393	4.513	16.716	0.137	.	0.0012	0.00279553	0.0024	0.0004	0.0012	0	0.0003	0.0014	0.0044	0.0105	0.0020892	323	154602	rs116476718	0.0015	0.0015	0.0012	0.0017	0.0107	0.0014	0.0014	0.0101	0.0099	5.974e-05	0.0009	0.0006	2.519e-05	0.0002	0.0094	0.0009	0.0019	0.0107	0.0010	0.0010	0.0010	0.0011	0.0091	0.0009	0.0009	0.0070	0.0062	7.226e-05	0.0175	0.0005	0.0009	0	0.0002	0	0.0012	0.0014	0.0091	0.22	0.18956	T	0.127	0.35082	T	0.861	0.47410	P	0.138	0.33406	B	0.002156	0.37138	N	0.256129	0.997005	0.81001	D	.	.	.	2.9	0.10101	T	-2.15	0.48687	N	0.626	0.64052	-1.0291	0.20746	T	0.026	0.11043	T	10	0.008395076	0.00190	T	.	.	.	0.137	0.36984	.	.	0.286848849266	0.28300	0.5781481004799673	0.57743	0.206687281271	0.23104	.	.	.	0.062483	0.31927	T	-0.448646	0.01150	T	-0.409263	0.32310	T	0.0240949992989467	0.01157	T	0.820918	0.48005	T	0.20001093	0.41961	0.20091796	0.44046	0.20001093	0.41961	0.20091796	0.44045	-8.572	0.64904	D	.	.	0.137	0.29941	B	.	.	4.101623	0.61165	24.3	0.99823540842108671	0.90590	0.86271	0.45519	D	AEFDBCI	0.668236	0.63608	D	0.100793035679368	0.46499	2.889373	0.14371737324171	0.46809	2.920971	0.999966064506883	0.48965	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.86	0.62624	4.617000	0.60907	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1295:0.8705:0.0	16.716	0.85256	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4665.11	36	chr20	20196636	.	G	A	4665.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.50;DP=1061;ExcessHet=0.1072;FS=0.370;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.856;SOR=0.733	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1838,0,1790	19	0	2	0
chr20	25077762	25077762	T	C	exonic	VSX1	.	nonsynonymous SNV	VSX1:NM_001378633:exon1:c.A38G:p.H13R	Keratoconus 1, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	350779	not_provided|Keratoconus_1|Polymorphous_corneal_dystrophy|VSX1-related_disorder	MedGen:C3661900|MONDO:MONDO:0007851,MedGen:C1835677,OMIM:148300|Human_Phenotype_Ontology:HP:0007915,MONDO:MONDO:0020364,MedGen:C0339284,OMIM:PS122000,Orphanet:98973|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.905	M	-3.01	D	0.751	D	0.816	D	0.549	4.891	28.1	5.21	1.949	7.391	13.912	0.775	0.228247731186	0.0022	0.000998403	0.0034	0.0016	0.0032	0	0	0.0032	0.0058	0.0042	0.0013777	213	154602	rs148957473	0.0043	0.0041	0.0043	0.0043	0.0050	0.0042	0.0042	0.0049	0.0048	0.0007	0.0020	7.946e-05	0	0.0008	0.0009	0.0050	0.0041	0.0032	0.0031	0.0031	0.0032	0.0029	0.0045	0.0028	0.0028	0.0041	0.0039	0.0012	0.0340	0.0037	0	0	0.0007	0	0.0045	0.0033	0.0023	0.008	0.59928	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	2.22	0.62911	M	-3.03	0.93532	D	-7.62	0.95394	D	0.854	0.93252	0.751	0.93803	D	0.816	0.93787	D	10	0.056372613	0.06307	T	0.228248	0.88129	D	0.775	0.92460	.	.	0.965949232786	0.96558	0.8838724055267788	0.88355	0.579389971153	0.53813	0.866244971752	0.92026	D	0.505028	0.82385	D	-0.132166	0.31148	T	0.0425029	0.73091	D	0.0501222325084368	0.05522	T	0.985901	0.95630	D	0.78069913	0.82696	0.7890036	0.87584	0.8058733	0.84285	0.76328677	0.86016	-8.729	0.72863	D	0.9186206475191496	0.96407	0.956	0.87566	P	.;.	.;.	4.993035	0.82791	27.9	0.99792008311563019	0.87750	0.89913	0.50694	D	AEFDBHCIJ	0.913623	0.87586	D	0.725993689681819	0.81337	7.498446	0.70423015970783	0.82698	7.832426	1.0	0.98316	0.59774	0.34471	0	0.491552	0.07993	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.21	5.21	0.72005	7.375000	0.78897	7.361000	0.58346	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.912	0.63380	808	0.43318	.;CVC domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	588.98	34	chr20	25077762	.	T	C	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=761;ExcessHet=0.0000;FS=4.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-4.180e-01;SOR=1.329	GT:AD:DP:GQ:PL	0/1:24,22:46:99:603,0,589	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:65,36:111:99:242,0,1121	2	0	19	0
chr20	36432450	36432450	G	A	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon3:c.G733A:p.A245T	.	.	432	1080	10	0	0	10	0.00460829	.	.	716943	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.975	D	0.242	B	0.000	D	1.000	D	1.005	L	1.96	T	-1.107	T	0.041	T	0.387	3.736	18.97	5.24	2.438	9.469	17.806	0.226	.	0.0012	0.00459265	0.0034	0.0001	0.0008	0	0.0002	0.0011	0	0.0198	0.0029754	460	154602	rs146757517	0.0022	0.0022	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0002	0.0008	0.0021	0	0.0003	0.0019	0.0010	0.0025	0.0203	0.0014	0.0014	0.0012	0.0017	0.0188	0.0013	0.0012	0.0157	0.0146	0.0002	0	0.0018	0.0035	0	0.0002	0	0.0011	0.0005	0.0188	0.012	0.56456	D	0.039	0.51112	D	0.975	0.58077	D	0.242	0.38699	B	0.000003	0.62929	D	0.057463	0.99828	0.44722	D	1.61	0.41143	L	1.96	0.22270	T	-1.81	0.42575	N	0.559	0.58373	-1.1068	0.03359	T	0.041	0.17742	T	10	0.009884894	0.00222	T	.	.	.	0.226	0.52472	.	.	0.266724437049	0.26276	0.3645978046822784	0.36373	0.916210507732	0.71246	0.605830073357	0.53727	T	0.051083	0.28780	T	-0.407215	0.02074	T	-0.342117	0.40105	T	0.0655071708820935	0.08005	T	0.882612	0.60317	D	0.19760294	0.41630	0.23671405	0.48950	0.19760294	0.41630	0.23671405	0.48949	-2.838	0.08538	T	.	.	0.110	0.26762	B	.;.;.;.	.;.;.;.	4.323203	0.66182	24.9	0.99890862013597903	0.96513	0.99349	0.94855	D	AEFDBI	0.902671	0.85084	D	0.469863862646862	0.65338	4.809991	0.561769344006739	0.72221	5.775576	0.999998249929805	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	9.596000	0.97431	9.282000	0.79722	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.806	0.88512	590	0.68897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4383.11	38	chr20	36432450	.	G	A	4383.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.320e-01;DP=1047;ExcessHet=0.1072;FS=1.223;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=-1.404e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:78,91:169:99:2228,0,1822	19	0	2	0
chr20	38002734	38002734	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon4:c.G2546A:p.R849H	.	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.022	B	0.003	B	0.921	N	1.000	N	0.69	N	0.46	T	-1.049	T	0.060	T	0.045	1.679	11.57	-0.962	-0.795	0.052	1.715	0.012	.	0.0003	0.00479233	0.0024	0.0010	0.0003	0.0008	0	0.0003	0.0033	0.0149	0.0021474	332	154602	rs147058267	0.0011	0.0011	0.0006	0.0016	0.0153	0.0011	0.0010	0.0146	0.0143	0.0008	0.0002	0.0007	0.0004	9.36e-05	0.0016	0.0001	0.0012	0.0153	0.0010	0.0010	0.0008	0.0012	0.0145	0.0009	0.0008	0.0118	0.0108	0.0012	0	0.0003	0.0009	0.0010	0.0002	0.0102	0.0002	0.0005	0.0145	0.238	0.17821	T	0.152	0.32249	T	0.022	0.18677	B	0.003	0.08700	B	0.920585	0.07473	N	1.033240	1	0.08975	N	1.245	0.31408	L	0.46	0.56281	T	0.43	0.03297	N	0.068	0.06454	-1.0488	0.14733	T	0.060	0.25200	T	10	0.0039944947	0.00077	T	.	.	.	0.012	0.01476	.	.	0.107399877778	0.10242	0.08297359489522074	0.08232	0.183938305836	0.20688	0.193576946855	0.00295	T	0.004306	0.03709	T	-0.629614	0.00096	T	-0.665497	0.07899	T	0.0119537082256107	0.00187	T	0.294271	0.05429	T	0.018503878	0.00371	0.01838724	0.00054	0.019773362	0.00515	0.0201749	0.00122	-4.337	0.28692	T	.	.	0.067	0.02370	B	.;.;.	.;.;.	0.511276	0.08799	5.579	0.96857585968343074	0.31369	0.05464	0.11344	N	AEFDBHCI	0.039910	0.05861	N	-1.40962472109699	0.02553	0.1129078	-1.42807514634091	0.02974	0.1378778	0.999576588577543	0.40495	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.36	-0.962	0.09806	0.048000	0.13962	-0.432000	0.09215	-2.768000	0.00193	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2065:0.4245:0.1077:0.2613	1.715	0.02725	735	0.53711	.;.;.	.	.	.	.	.	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	0.02381	503.98	35	chr20	38002734	.	C	T	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.000e-03;DP=764;ExcessHet=0.0000;FS=2.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-5.960e-01;SOR=0.407	GT:AD:DP:GQ:PL	0/1:36,24:60:99:518,0,823	20	0	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:74,27:101:34:34,0,1446	14	0	7	0
chr20	45882618	45882618	G	A	exonic	ZSWIM1	.	stopgain	ZSWIM1:NM_080603:exon2:c.G26A:p.W9X,	.	.	426	1062	32	2	0	36	0.0166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	0.411	6.234	0.395	0.001	-0.105	1.969	.	.	0.0073	0.0113818	0.0124	0.0010	0.0091	0.0186	0.0169	0.0124	0.0155	0.0169	0.0117528	1817	154602	rs35972756	0.0098	0.0098	0.0096	0.0100	0.0195	0.0097	0.0096	0.0183	0.0179	0.0014	0.0103	0.0218	0.0195	0.0146	0.0106	0.0085	0.0126	0.0162	0.0096	0.0096	0.0087	0.0105	0.0208	0.0092	0.0090	0.0177	0.0165	0.0015	0	0.0190	0.0204	0.0208	0.0136	0	0.0096	0.0151	0.0191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.021	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.351716	0.04619	T	-0.263056	0.48519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	4.627757	0.73545	26.0	0.95134398399677056	0.26249	0.11612	0.16748	N	AEFBHCI	0.023084	0.01239	N	0.12119468821662	0.47453	2.970763	-0.264984269874491	0.29260	1.637906	0.999398291110507	0.39470	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.78	0.395	0.15527	-0.100000	0.10959	1.330000	0.25662	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.177000	0.21203	0.1789:0.1315:0.5012:0.1884	1.969	0.03194	758	0.50837	.;.	TNNC2	Small_Intestine_Terminal_Ileum	.	.	rs35972756	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	986.98	35	chr20	45882618	.	G	A	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.422e+00;DP=821;ExcessHet=0.0000;FS=1.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=1.14;SOR=0.525	GT:AD:DP:GQ:PL	0/1:61,42:103:99:1001,0,1698	20	0	1	0
chr20	45883443	45883443	G	A	exonic	ZSWIM1	.	nonsynonymous SNV	ZSWIM1:NM_080603:exon2:c.G851A:p.R284H,	.	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.796	P	0.23	B	0.901	U	1.000	N	0.55	N	1.85	T	-1.014	T	0.019	T	0.033	1.418	10.68	-1.7	-0.164	-2.009	10.617	0.075	.	0.0073	0.0113818	0.0123	0.0010	0.0091	0.0186	0.0169	0.0123	0.0154	0.0164	0.0116622	1803	154602	rs45447691	0.0098	0.0098	0.0096	0.0100	0.0197	0.0097	0.0096	0.0186	0.0181	0.0014	0.0104	0.0218	0.0197	0.0146	0.0106	0.0085	0.0126	0.0163	0.0096	0.0096	0.0087	0.0104	0.0206	0.0092	0.0090	0.0175	0.0166	0.0015	0	0.0191	0.0205	0.0206	0.0136	0.0034	0.0096	0.0152	0.0190	0.152	0.24468	T	0.065	0.44702	T	0.796	0.44790	P	0.23	0.38212	B	0.901040	0.07356	U	1.066210	1	0.08975	N	1.79	0.46772	L	1.85	0.24472	T	-0.69	0.19720	N	0.021	0.00339	-1.0143	0.25561	T	0.019	0.07846	T	10	0.0032221675	0.00055	T	.	.	.	0.075	0.21907	.	.	.	.	0.21869424538490634	0.21785	0.32327001024	0.34494	0.188551545143	0.00200	T	0.00566	0.05109	T	-0.694842	0.00039	T	-0.755933	0.03260	T	0.00827551918317233	0.00099	T	0.539346	0.18229	T	0.030798016	0.02804	0.039428506	0.04033	0.030798016	0.02804	0.039428506	0.04033	-3.14	0.11761	T	.	.	0.072	0.04198	B	.;.	.;.	0.535556	0.09040	5.825	0.94430154548453726	0.24844	0.03520	0.08703	N	AEFBHCI	0.025201	0.01688	N	-0.808238093688282	0.13099	0.6429756	-0.8837003979805	0.12479	0.6421809	0.999738495395858	0.42341	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.27	-1.7	0.07721	-1.574000	0.02237	-0.782000	0.07450	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.6029:0.0:0.3971:0.0	10.617	0.44646	758	0.50837	.;.	TNNC2	Small_Intestine_Terminal_Ileum	.	.	rs45447691	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3520.98	44	chr20	45883443	.	G	A	3520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=1108;ExcessHet=0.0000;FS=1.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.589;SOR=0.635	GT:AD:DP:GQ:PL	0/1:145,136:281:99:3535,0,3545	20	0	1	0
chr20	46512087	46512087	A	T	exonic	ZNF334	.	nonsynonymous SNV	ZNF334:NM_001353824:exon2:c.T16A:p.F6I	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.056	B	0.017	B	.	.	1.000	D	2.3	M	5.68	T	-0.882	T	0.004	T	0.103	1.922	12.38	1.91	0.538	0.277	5.226	0.071	0.00824595402133	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	.	2.395e-05	2.394e-05	2.451e-05	2.338e-05	0.0010	1.739e-05	1.539e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.889e-05	3.313e-05	6.957e-05	2.629e-05	2.627e-05	1.285e-05	4.038e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.143	0.25355	T	0.186	0.28860	T	0.056	0.22806	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	1.565	0.39561	L	5.68	0.00759	T	-0.9	0.24244	N	0.249	0.28146	-0.8822	0.49585	T	0.004	0.01400	T	9	0.08760935	0.15005	T	0.008246	0.21853	T	0.071	0.20720	0.315	0.29096	0.282179105231	0.27821	.	.	0.035770915766	0.03774	0.390302360058	0.23713	T	0.012733	0.11141	T	-0.362328	0.04000	T	-0.661381	0.08173	T	0.0570081336549573	0.06690	T	0.0969903	0.00718	T	0.06122145	0.12653	0.05090418	0.08085	0.06122145	0.12652	0.05090418	0.08084	-4.81	0.34708	T	.	.	0.087	0.11269	B	.	.	1.445580	0.18657	13.86	0.97502613690156048	0.34304	0.10579	0.16046	N	AEDBI	0.038536	0.05469	N	-0.439193176641871	0.24108	1.299405	-0.417164932510152	0.24493	1.341537	0.475602114158107	0.20743	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	3.06	1.91	0.24841	0.742000	0.25884	1.938000	0.29812	0.691000	0.84096	0.561000	0.27433	0.025000	0.21018	0.977000	0.56843	0.727:0.0:0.0:0.273	5.226	0.14716	952	0.10565	.	.	.	.	.	.	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	0.02381	1593.98	33	chr20	46512087	.	A	T	1593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.860;DP=823;ExcessHet=0.0000;FS=1.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-5.860e-01;SOR=0.566	GT:AD:DP:GQ:PL	0/1:70,63:133:99:1608,0,1748	20	0	1	0
chr20	54171651	54171651	G	A	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon3:c.C469T:p.R157W	Hypercalcemia, infantile, 1, Autosomal recessive	.	0	1442	72	3	5	83	0.0263336	.	.	270131	Hypercalcemia,_infantile,_1|CYP24A1-related_disorder|not_provided	MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.725	M	-0.41	T	-0.138	T	0.467	T	0.808	3.188	16.67	-1.28	-0.626	1.541	13.137	0.849	0.474977416158	.	0.000998403	0.0015	0.0005	0.0011	0.0001	0.0002	0.0022	0.0011	0.0005	0.0015653	242	154602	rs35873579	0.0029	0.0029	0.0030	0.0028	0.0035	0.0028	0.0028	0.0034	0.0034	0.0005	0.0015	0.0001	5.038e-05	0.0002	0.0009	0.0035	0.0024	0.0004	0.0018	0.0018	0.0021	0.0015	0.0032	0.0016	0.0015	0.0028	0.0027	0.0005	0	0.0022	0	0	9.439e-05	0	0.0032	0.0005	0.0002	0.002	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.958	0.70027	D	0.000000	0.84330	D	0.047721	0.999596	0.48635	D	2.99	0.85699	M	-0.41	0.69413	T	-5.07	0.82830	D	0.902	0.92433	-0.1379	0.79216	T	0.467	0.79427	T	10	0.2155258	0.38107	T	0.474977	0.94744	D	0.849	0.95323	.	.	0.817560347467	0.81584	0.8738287631906198	0.87348	0.38698782974	0.39986	0.487935274839	0.37152	T	0.75718	0.93392	D	-0.139379	0.29991	T	0.0310205	0.72344	D	0.0679974905383574	0.08367	T	0.977202	0.92020	D	0.7928412	0.83451	0.81640744	0.89309	0.8284251	0.85795	0.8288375	0.90110	-9.899	0.73978	D	.	.	0.193	0.50898	B	.;.;.	.;.;.	3.948127	0.57820	23.9	0.99541509672010009	0.70523	0.69342	0.34150	D	AEFDBHCI	0.674634	0.64029	D	0.0643447757331673	0.44805	2.747914	-0.0815655711413196	0.36153	2.100319	0.999951290332771	0.48110	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.41	-1.28	0.08834	1.419000	0.34400	1.258000	0.25213	-0.144000	0.12334	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.5719:0.4281	13.137	0.58833	954	0.10045	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	774.98	41	chr20	54171651	.	G	A	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.070;DP=800;ExcessHet=0.0000;FS=3.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-1.970e-01;SOR=1.074	GT:AD:DP:GQ:PL	0/1:48,33:81:99:789,0,1225	20	0	1	0
chr20	62310083	62310083	-	GGAGGGGTAGGAAG	splicing	LAMA5	NM_005560:exon78:c.10735-2->CTTCCTACCCCTCC	.	.	.	.	416	1093	12	1	0	14	0.00636364	.	.	797997	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0004	0	0	0.0006	0.0012	0.0017	0.0001537	4	26028	rs762469320	0.0005	0.0005	0.0004	0.0005	0.0186	0.0005	0.0004	0.0157	0.0147	0.0001	0.0004	0.0018	0	0.0001	0.0186	0.0003	0.0008	0.0019	0.0004	0.0004	0.0003	0.0004	0.0025	0.0003	0.0003	0.0014	0.0011	2.408e-05	0	0.0003	0.0009	0	0	0.0102	0.0005	0.0014	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1047.94	46	chr20	62310083	.	T	TGGAGGGGTAGGAAG	1047.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=796;ExcessHet=0.0000;FS=5.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.12;ReadPosRankSum=1.02;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,28:65:99:0|1:62310083_T_TGGAGGGGTAGGAAG:1062,0,1471:62310083	20	0	1	0
chr20	62657241	62657241	G	A	exonic	SLCO4A1	.	nonsynonymous SNV	SLCO4A1:NM_016354:exon2:c.G787A:p.V263I,	.	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.022	B	0.031	B	0.000	N	0.998	D	0.815	L	1.06	T	-1.095	T	0.047	T	0.089	1.636	11.43	1.91	0.094	3.099	8.813	0.046	.	0.0046	0.00838658	0.0146	0.0014	0	0.0021	0	0.0138	0.0172	0.0225	0.0029495	456	154602	rs140267842	0.0090	0.0087	0.0089	0.0091	0.0142	0.0089	0.0088	0.0133	0.0130	0.0016	0.0055	0.0122	0.0005	0.0006	0.0142	0.0094	0.0110	0.0140	0.0061	0.0061	0.0063	0.0060	0.0182	0.0058	0.0057	0.0151	0.0140	0.0018	0.0011	0.0070	0.0124	0.0010	0.0002	0.0136	0.0088	0.0052	0.0182	0.122	0.27663	T	0.14	0.33554	T	0.022	0.18677	B	0.031	0.21939	B	0.000079	0.52346	N	0.085102	0.998009	0.44406	D	0.83	0.20963	L	1.06	0.39781	T	-0.21	0.10308	N	0.11	0.09631	-1.0945	0.04824	T	0.047	0.20156	T	10	0.012305081	0.00265	T	.	.	.	0.046	0.12618	.	.	0.388010793773	0.38412	0.36218631752430513	0.36132	0.43156961737	0.43355	0.325636208057	0.14274	T	0.021444	0.16695	T	-0.572852	0.00213	T	-0.583315	0.14249	T	0.0158779078162979	0.00373	T	0.781022	0.41604	T	0.031249743	0.02931	0.04016889	0.04279	0.031249743	0.02930	0.04016889	0.04279	-5.181	0.38748	T	.	.	0.077	0.06803	B	.;.	.;.	2.132742	0.27151	17.37	0.98923019650474953	0.48602	0.73578	0.35990	D	AEFGBCI	0.169143	0.29596	N	-0.523243722078334	0.21330	1.131181	-0.428032031540844	0.24178	1.322592	0.999974712367101	0.50053	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.32	1.91	0.24841	3.180000	0.50595	3.692000	0.39499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.1944:0.0:0.8056:0.0	8.813	0.34137	609	0.67094	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	0.02381	466.98	33	chr20	62657241	.	G	A	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.370e-01;DP=722;ExcessHet=0.0000;FS=1.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.088;SOR=0.495	GT:AD:DP:GQ:PL	0/1:18,20:38:99:481,0,476	20	0	1	0
chr20	62813512	62813571	GAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGAT	-	exonic	OGFR	.	nonframeshift deletion	OGFR:NM_007346:exon7:c.1897_1956del:p.E636_A655del,	.	.	434	1080	7	0	1	8	0.00323027	.	.	2824592	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0006	0.0023	0	0	0.0049	0.0022	0.0071	0.0001153	3	26028	.	0.0006	0.0005	0.0006	0.0006	0.0027	0.0006	0.0006	0.0016	0.0012	0.0003	0.0004	0.0052	2.729e-05	8.394e-05	0.0027	0.0005	0.0008	0.0011	0.0017	0.0017	0.0018	0.0016	0.0034	0.0015	0.0015	0.0020	0.0019	0.0005	0	0.0007	0.0117	0.0002	0.0001	0.0042	0.0023	0.0022	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	737.94	38	chr20	62813511	.	CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGAT	C	737.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.231e+00;DP=824;ExcessHet=0.0000;FS=7.405;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.16;MQRankSum=-4.040e-01;QD=12.51;ReadPosRankSum=1.41;SOR=1.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,21:59:99:0|1:62813511_CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGAT_C:752,0,1480:62813511	20	0	1	0
chr20	62821797	62821797	T	C	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon8:c.T410C:p.L137P,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	.	7	1498	16	1	0	18	0.00597213	.	.	257389	not_specified|Connective_tissue_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.005	B	0.007	B	0.007	U	1.000	D	-1.305	N	-2.78	D	-0.410	T	0.365	T	0.372	1.878	12.24	4.79	1.783	1.870	7.156	0.294	0.0673241444334	0.0027	0.00339457	0.0046	0.0049	0.0029	0	0	0.0054	0.0015	0.0070	0.0036869	570	154602	rs147947060	0.0040	0.0042	0.0039	0.0040	0.0057	0.0039	0.0038	0.0052	0.0051	0.0030	0.0021	0.0170	0	0.0007	0.0055	0.0039	0.0041	0.0057	0.0039	0.0039	0.0041	0.0037	0.0052	0.0036	0.0035	0.0042	0.0040	0.0036	0	0.0015	0.0210	0.0002	9.414e-05	0.0068	0.0046	0.0028	0.0052	0.128	0.26965	T	0.405	0.23570	T	0.005	0.12996	B	0.007	0.12992	B	0.006952	0.31695	U	0.302681	0.999795	0.49177	D	-1.165	0.00881	N	-3.57	0.94904	D	-0.1	0.08495	N	0.379	0.42050	-0.4097	0.71720	T	0.365	0.72560	T	10	0.009360015	0.00211	T	0.067324	0.70132	D	0.294	0.61388	.	.	0.74863057164	0.74636	0.5024657450337587	0.50168	0.113901460295	0.12851	0.680965423584	0.64407	T	3.69E-4	0.00107	T	-0.223375	0.17535	T	-0.0919972	0.64011	T	0.00856606393201849	0.00104	T	0.683432	0.33655	T	0.1268334	0.29697	0.2035398	0.44434	0.180683	0.39201	0.16422048	0.38053	-1.168	0.01206	T	.	.	0.099	0.43801	B	.;.;.	.;.;.	2.953959	0.39315	20.9	0.95034833747809411	0.26033	0.58758	0.30729	D	AEFDBCI	0.250613	0.37063	N	-0.483242777438565	0.22629	1.210	-0.222696171986814	0.30723	1.732407	0.99908956704427	0.38397	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	1.790000	0.38366	4.042000	0.41433	0.603000	0.45986	0.998000	0.41325	1.000000	0.68203	0.793000	0.37436	0.0:0.1018:0.0:0.8982	7.156	0.24815	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	0	0	1	0	0.04762	808.11	36	chr20	62821797	.	T	C	808.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.71;DP=759;ExcessHet=0.1072;FS=1.842;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=0.428;SOR=0.923	GT:AD:DP:GQ:PL	0/1:19,13:32:99:373,0,426	19	0	2	0
chr20	63250045	63250045	-	A	exonic	NKAIN4	.	stopgain	NKAIN4:NM_152864:exon2:c.81dupT:p.D28*,	.	.	430	1083	7	2	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0.0002	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775737748	3.472e-05	3.489e-05	9.656e-06	6.013e-05	0.0006	2.671e-05	2.411e-05	0.0004	0.0004	0	0	0	0	0	0	0	5.04e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1542.94	39	chr20	63250045	.	C	CA	1542.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=861;ExcessHet=0.0000;FS=4.770;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-5.560e-01;SOR=1.219	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1557,0,1592	20	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S,	.	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	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	.	.	.	.	.	.;.	.	.	.	.	.	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	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:130,98:228:99:2383,0,3330	6	6	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	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	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	0/1:119,71:190:99:1706,0,3187	6	6	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1205,0,1520	6	6	9	0
chr21	28947475	28947475	C	T	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon18:c.G3434A:p.C1145Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	0.118	N	1.000	N	0.695	N	2.3	T	-1.036	T	0.025	T	0.087	-1.138	0.112	4.35	1.362	1.710	3.419	0.064	0.00431434474615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.126	0.35205	T	0.0	0.02946	B	0.001	0.04355	B	0.118323	0.19118	N	0.549745	0.994866	0.23425	N	1.01	0.25309	L	2.3	0.17113	T	0.32	0.03955	N	0.128	0.15469	-1.0360	0.18544	T	0.025	0.10643	T	10	0.07342267	0.11091	T	0.004314	0.10467	T	0.064	0.18567	0.407	0.44066	0.043077524339	0.03247	0.36981611785559765	0.36895	0.403205941033	0.41266	0.387484490871	0.23315	T	0.186022	0.53918	T	-0.309086	0.07829	T	-0.681757	0.06877	T	0.165932254968091	0.18299	T	0.581942	0.21082	T	0.048919085	0.08603	0.06618377	0.13520	0.048919085	0.08602	0.06618377	0.13520	-3.545	0.17067	T	.	.	0.089	0.13876	B	.;.;.	.;.;.	2.566399	0.33247	19.28	0.39434889325414346	0.02721	0.72402	0.35439	D	AEFBCI	0.127451	0.24482	N	-0.261830607531422	0.30633	1.70995	-0.0872589048675904	0.35916	2.083661	0.998119622918807	0.36446	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.27	4.35	0.51454	1.802000	0.38490	4.861000	0.45471	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1446:0.4773:0.2802:0.0979	3.419	0.06958	975	0.05339	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1056.98	41	chr21	28947475	.	C	T	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.316;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.525;SOR=0.737	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1071,0,1006	20	0	1	0
chr21	30430441	30430441	T	C	exonic	KRTAP13-4	.	nonsynonymous SNV	KRTAP13-4:NM_181600:exon1:c.T166C:p.W56R,	.	.	431	1069	22	0	0	22	0.0101852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.942	P	0.692	P	0.170	N	1.000	N	1.43	L	4.08	T	-1.027	T	0.016	T	0.262	1.576	11.23	2.47	0.383	0.701	5.546	0.062	0.00352397155328	0.0025	0.00319489	0.0036	0.0007	0.0035	0	0.0003	0.0039	0.0066	0.0072	0.0034476	533	154602	rs149298552	0.0034	0.0034	0.0033	0.0035	0.0088	0.0034	0.0033	0.0069	0.0064	0.0004	0.0031	0.0062	0	0.0002	0.0088	0.0035	0.0034	0.0070	0.0025	0.0025	0.0026	0.0025	0.0058	0.0023	0.0022	0.0041	0.0036	0.0005	0	0.0043	0.0061	0	9.411e-05	0.0136	0.0035	0.0028	0.0058	0.167	0.23095	T	0.205	0.27145	T	0.942	0.52977	P	0.692	0.53862	P	0.170203	0.03104	N	1.803450	1	0.08975	N	1.59	0.40313	L	4.08	0.03003	T	-3.06	0.63090	D	0.2	0.22098	-1.0270	0.21429	T	0.016	0.06425	T	10	0.009473383	0.00214	T	0.003524	0.08000	T	0.062	0.17934	0.463	0.53242	0.309839678437	0.30585	0.03973156893698603	0.03919	0.0558099705447	0.06170	0.246668711305	0.03425	T	0.093177	0.39157	T	-0.569704	0.00222	T	-0.587111	0.13916	T	0.0528896549614816	0.06001	T	0.294771	0.05441	T	0.22722381	0.45418	0.21949627	0.46691	0.22722381	0.45418	0.21949627	0.46690	-3.734	0.19821	T	.	.	0.159	0.35119	B	.	.	1.554640	0.19923	14.50	0.85889997240862936	0.16177	0.26457	0.22998	N	AEFI	0.040889	0.06145	N	-0.197699678893629	0.33229	1.882883	-0.342269674115666	0.26747	1.479514	0.549009861814607	0.21318	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	4.95	2.47	0.29113	0.773000	0.26323	-1.939000	0.04464	0.658000	0.54486	0.697000	0.28597	0.000000	0.08366	0.014000	0.10232	0.1765:0.0:0.1704:0.6531	5.546	0.16353	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1515.98	36	chr21	30430441	.	T	C	1515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.498e+00;DP=936;ExcessHet=0.0000;FS=0.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-6.620e-01;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,58:110:99:0|1:30430441_T_C:1530,0,1549:30430441	20	0	1	0
chr21	32514918	32514918	C	T	exonic	EVA1C	.	nonsynonymous SNV	EVA1C:NM_001320744:exon6:c.C733T:p.R245C	.	.	414	1088	20	0	0	20	0.00910747	.	.	2824686	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.972	D	0.386	B	0.834	N	1.000	N	2.045	M	0.72	T	-0.962	T	0.133	T	0.349	2.037	12.77	2.65	0.244	0.400	4.888	0.125	0.059310702192	0.0004	0.00139776	0.0013	0.0002	0.0003	0	0	0.0002	0.0044	0.0079	0.0010673	165	154602	rs140738179	0.0006	0.0006	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0071	5.974e-05	8.944e-05	0	0	1.873e-05	0.0056	0.0001	0.0008	0.0078	0.0003	0.0003	0.0002	0.0005	0.0064	0.0003	0.0002	0.0047	0.0041	9.632e-05	0	0.0002	0	0	9.427e-05	0	0.0002	0	0.0064	0.003	0.68238	D	0.004	0.76473	D	0.972	0.57405	D	0.386	0.44011	B	0.833929	0.09085	N	0.932365	1	0.08975	N	2.455	0.71248	M	0.72	0.50976	T	-2.69	0.60348	D	0.162	0.24010	-0.9615	0.38897	T	0.133	0.44622	T	10	0.003971368	0.00077	T	0.059311	0.67621	D	0.125	0.34456	.	.	0.348764635752	0.34483	0.1997479735440801	0.19891	0.624057549516	0.56626	0.227707535028	0.01802	T	0.062609	0.34113	T	-0.422678	0.01645	T	-0.374234	0.36395	T	0.0331481682805986	0.02497	T	0.868713	0.57175	D	0.2716026	0.50231	0.1502797	0.35449	0.2716026	0.50231	0.1502797	0.35449	-8.344	0.63391	D	.	.	0.116	0.23465	B	.;.;.	.;.;.	2.350888	0.30139	18.34	0.99776970401835641	0.86433	0.07127	0.13153	N	AEFDBI	0.096577	0.19493	N	-0.274995800252365	0.30118	1.676358	-0.422410300280141	0.24340	1.33237	0.999979703514277	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.61	2.65	0.30588	0.670000	0.24838	1.514000	0.27045	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.039000	0.14166	0.3919:0.413:0.1266:0.0684	4.888	0.13072	840	0.37365	EVA1 domain;EVA1 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	0.04762	2588.11	38	chr21	32514918	.	C	T	2588.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.06;DP=918;ExcessHet=0.1072;FS=1.027;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=2.13;SOR=0.615	GT:AD:DP:GQ:PL	0/1:55,34:89:99:865,0,1387	19	0	2	0
chr21	33511357	33511357	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon17:c.G2209A:p.A737T	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.955	D	0.000	D	1.000	D	3.1	M	2.26	T	-0.783	T	0.161	T	0.861	5.027	29.7	5.44	2.573	7.270	19.267	0.316	0.0320678778734	7.7e-05	.	.	.	.	.	.	.	.	.	.	.	.	rs372288271	2.052e-05	2.052e-05	1.633e-05	2.475e-05	0.0017	1.456e-05	1.264e-05	0.0009	0.0007	0	6.708e-05	0	0	3.744e-05	0.0017	1.079e-05	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.415e-05	2.18e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.07	0.35349	T	0.019	0.59159	D	1.0	0.90584	D	0.955	0.69585	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.965	0.85198	M	2.26	0.17596	T	-2.9	0.60827	D	0.768	0.85766	-0.7828	0.56144	T	0.161	0.49648	T	10	0.8611113	0.85332	D	0.032068	0.53992	D	0.316	0.63799	.	.	0.740075850574	0.73774	0.9107133635467993	0.91045	0.507961771772	0.48972	0.517434418201	0.41265	T	0.181856	0.53367	T	0.0971474	0.63984	D	-0.00137688	0.70247	D	0.963827073574066	0.66773	D	0.955304	0.82980	D	0.93636066	0.94877	0.88719034	0.94068	0.93636066	0.94878	0.88719034	0.94069	-10.577	0.77288	D	.	.	0.263	0.50898	B	.;.;.	.;.;.	4.871543	0.79818	27.2	0.99887218163676061	0.96204	0.96150	0.67762	D	AEFBHCI	0.871313	0.79264	D	0.854443806426256	0.89360	9.939684	0.787604690291222	0.88919	9.766618	0.999999999999794	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.350000	0.78633	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.129000	0.19529	0.0:1.0:0.0:0.0	19.267	0.93983	929	0.16858	PurM-like, C-terminal domain;PurM-like, C-terminal domain;PurM-like, C-terminal domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	983.98	35	chr21	33511357	.	C	T	983.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=817;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=-9.970e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:41,39:80:99:998,0,972	20	0	1	0
chr21	33624730	33624730	C	T	exonic	CRYZL1	.	nonsynonymous SNV	CRYZL1:NM_145858:exon3:c.G97A:p.V33M,	.	.	472	1045	5	0	0	5	0.00238663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.595	H	0.04	T	0.295	D	0.540	D	0.74	3.905	19.85	5.05	2.503	4.336	14.294	0.524	0.0604570523149	.	0.000599042	0.0005	0	0.0002	0	0	1.501e-05	0.0022	0.0034	0.0004204	65	154602	rs550793039	0.0002	0.0002	8.958e-05	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0009	6.32e-06	0.0002	0.0031	0.0002	0.0002	1.285e-05	0.0003	0.0046	0.0001	8.716e-05	0.0031	0.0026	0	0	0	0	0	0	0	1.47e-05	0	0.0046	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998378	0.44834	D	4.21	0.97867	H	0.04	0.62051	T	-2.38	0.54546	N	0.683	0.76111	0.295	0.87471	D	0.540	0.83032	D	10	0.02027747	0.00465	T	0.060457	0.68006	D	0.524	0.79825	0.714	0.84962	0.808572949802	0.80677	0.689361115715992	0.68876	0.816151237162	0.66945	0.624116718769	0.56311	T	0.220575	0.63621	T	-0.130307	0.31446	T	0.0366822	0.72712	D	0.35811591824001	0.27336	T	0.963104	0.86259	D	0.5220749	0.68378	0.40280864	0.64754	0.5220749	0.68379	0.40280864	0.64754	-10.128	0.74675	D	.	.	0.690	0.77339	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.411941	0.68264	25.2	0.99861000202201422	0.93911	0.91677	0.54029	D	AEFBI	0.497112	0.53177	N	0.857187512908953	0.89513	10.00295	0.761634437763026	0.87026	9.081296	0.507507480894516	0.20993	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	4.297000	0.58858	7.633000	0.62825	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:1.0:0.0:0.0	14.294	0.65855	853	0.34956	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.;Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	695.98	34	chr21	33624730	.	C	T	695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.368;DP=761;ExcessHet=0.0000;FS=3.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-4.790e-01;SOR=1.185	GT:AD:DP:GQ:PL	0/1:32,30:62:99:710,0,732	20	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	0/1:20,31,0:51:99:1076,0,672,1136,777,1913	5	1	7	3
chr21	42447180	42447180	A	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon14:c.A1858G:p.I620V	.	.	421	1067	33	1	0	35	0.0161365	.	.	742656	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.0	B	0.043	N	1.000	D	0	N	3.08	T	-0.921	T	0.007	T	0.129	0.542	6.933	1.14	-0.048	0.347	2.216	0.039	.	0.0038	0.00279553	0.0042	0.0007	0.0016	0	0	0.0048	0.0088	0.0095	0.0041073	635	154602	rs148149121	0.0043	0.0043	0.0041	0.0046	0.0149	0.0043	0.0042	0.0124	0.0114	0.0009	0.0021	0.0194	0	0.0001	0.0149	0.0040	0.0052	0.0100	0.0034	0.0034	0.0034	0.0033	0.0108	0.0031	0.0030	0.0084	0.0076	0.0011	0	0.0035	0.0210	0	0.0002	0.0136	0.0040	0.0052	0.0108	0.093	0.33923	T	0.152	0.33554	T	0.0	0.02946	B	0.0	0.01387	B	0.043025	0.23780	N	0.356002	1	0.81001	D	1.555	0.39373	L	3.08	0.08460	T	-0.46	0.15178	N	0.251	0.28381	-0.9208	0.45445	T	0.007	0.02399	T	10	0.0024763644	0.00037	T	.	.	.	0.039	0.10176	.	.	0.33835085245	0.33439	0.2641569883606941	0.26328	0.109189358208	0.12315	0.390287220478	0.23710	T	0.105175	0.41541	T	-0.635169	0.00089	T	-0.677191	0.07156	T	0.0105885998561583	0.00148	T	0.536546	0.18022	T	0.09261947	0.21733	0.06972154	0.14724	0.09261947	0.21733	0.06972154	0.14724	-4.441	0.30109	T	.	.	0.095	0.14797	B	.;.	.;.	1.072182	0.14545	11.11	0.80113903339197989	0.13051	0.59468	0.30924	D	AEFDBI	0.156703	0.28210	N	-0.914647396964375	0.10498	0.5019893	-0.809531213614776	0.14266	0.7444755	0.758839313926418	0.23477	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.98	1.14	0.19817	0.577000	0.23461	0.873000	0.22330	-0.083000	0.16234	0.988000	0.36536	0.967000	0.29559	0.031000	0.13245	0.4571:0.3086:0.0852:0.149	2.216	0.03717	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	0.02381	1007.98	33	chr21	42447180	.	A	G	1007.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.726;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-2.330e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:33,40:73:99:1022,0,777	20	0	1	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,109,0:109:99:1|1:44558616_T_G:4810,328,0,4810,328,4810:44558616	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,108,0:108:99:1|1:44558616_T_G:4782,325,0,4782,325,4782:44558616	0	17	3	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	0/2:159,0,119:278:99:4291,4846,11703,0,6491,6055	3	1	0	1
chr21	46215298	46215298	G	A	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001145437:exon8:c.C653T:p.A218V	Cataract 44, Autosomal recessive	.	433	1079	10	0	0	10	0.00461255	0.0006	0.15	1533022	LSS-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.009	B	0.001	B	0.586	N	0.984	N	0.665	N	1.46	T	-1.010	T	0.016	T	0.112	1.355	10.45	-8.66	-1.342	0.012	8.250	0.038	.	0.0004	0.00519169	0.0040	0.0001	0.0008	0.0194	0.0003	0.0006	0.0074	0.0145	0.0028266	437	154602	rs201713860	0.0015	0.0015	0.0011	0.0019	0.0130	0.0014	0.0014	0.0121	0.0117	3.006e-05	0.0002	0.0002	0.0130	0.0002	0.0029	0.0004	0.0010	0.0126	0.0012	0.0012	0.0008	0.0016	0.0135	0.0010	0.0010	0.0110	0.0100	7.222e-05	0	0.0006	0	0.0135	0.0005	0	0.0004	0.0009	0.0124	0.513	0.07425	T	0.614	0.09298	T	0.002	0.09854	B	0.0	0.01387	B	0.586277	0.11094	N	0.837062	0.984187	0.24822	N	1.495	0.37439	L	1.46	0.32238	T	-1.22	0.31576	N	0.237	0.27197	-1.0098	0.26981	T	0.016	0.06711	T	10	0.0070340037	0.00160	T	0.007566	0.20086	T	0.038	0.09825	.	.	0.184867976434	0.18130	0.5960744481953376	0.59537	0.28602195282	0.31010	0.254594683647	0.04267	T	0.056938	0.30426	T	-0.645131	0.00078	T	-0.685183	0.06672	T	0.0118133632872924	0.00183	T	0.729627	0.34527	T	0.08526793	0.19773	0.049082696	0.07425	0.048312847	0.08399	0.037260924	0.03342	-4.742	0.38758	T	.	.	0.084	0.19720	B	.;.;.;.	.;.;.;.	-0.074480	0.03794	0.802	0.68026145806300997	0.08532	0.14540	0.18457	N	AEFBCI	0.071907	0.14332	N	-1.52998585759555	0.01655	0.07240483	-1.620730661718	0.01534	0.06949419	0.999907498865793	0.45458	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	-8.66	0.00751	-0.058000	0.11707	-0.610000	0.08226	-0.128000	0.13240	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.4401:0.205:0.3549:0.0	8.250	0.30872	934	0.15400	Squalene cyclase, N-terminal;Squalene cyclase, N-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	509.98	39	chr21	46215298	.	G	A	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.370e-01;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-1.385e+00;SOR=0.542	GT:AD:DP:GQ:PL	0/1:23,23:46:99:524,0,552	20	0	1	0
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	0/3:18,0,0,11:31:99:237,284,823,284,823,823,0,485,485,415	10	0	3	0
chr21	46498665	46498665	G	A	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon5:c.G487A:p.V163I	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.005	B	0.012	B	0.155	N	0.916	D	0.77	N	1.95	T	-1.040	T	0.028	T	0.107	2.354	13.83	-0.171	-0.347	1.606	5.795	0.102	.	0.0004	0.00239617	0.0023	0.0001	0.0008	0	0.0002	0.0005	0.0056	0.0134	0.0019534	302	154602	rs199555654	0.0012	0.0012	0.0008	0.0016	0.0129	0.0011	0.0011	0.0123	0.0120	2.987e-05	0.0002	0.0001	5.038e-05	0.0003	0.0029	0.0004	0.0008	0.0129	0.0006	0.0006	0.0005	0.0007	0.0098	0.0005	0.0004	0.0076	0.0068	2.408e-05	0	0.0007	0	0.0004	0.0005	0	0.0003	0.0005	0.0098	0.513	0.07846	T	0.685	0.09760	T	0.002	0.12996	B	0.008	0.16012	B	0.154993	0.17844	N	0.553623	0.916083	0.36543	D	1.155	0.29575	L	1.95	0.22678	T	-0.02	0.14978	N	0.101	0.12913	-1.0395	0.17465	T	0.028	0.12190	T	10	0.0039798617	0.00077	T	.	.	.	0.102	0.29158	.	.	0.171220215726	0.16700	0.14141041502785617	0.14064	0.203220193723	0.22737	0.23514983058	0.02371	T	0.016431	0.13584	T	-0.598165	0.00150	T	-0.620322	0.11160	T	0.0129738828206204	0.00225	T	0.69953	0.30934	T	0.016957363	0.00235	0.019281289	0.00083	0.016957363	0.00235	0.019281289	0.00083	-4.619	0.35351	T	.	.	0.079	0.07697	B	.;.;.;.;.	.;.;.;.;.	1.436971	0.18559	13.80	0.98899051363821378	0.48145	0.93939	0.59631	D	AEFDGBI	0.203856	0.33033	N	-0.524796650724327	0.21281	1.128194	-0.410740659589951	0.24682	1.352972	0.999989550224191	0.51787	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.54	-0.171	0.12677	1.725000	0.37696	-1.545000	0.05202	0.676000	0.76740	0.576000	0.27554	0.000000	0.08366	0.998000	0.85391	0.3391:0.1261:0.5348:0.0	5.795	0.17647	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	0.02381	1286.98	34	chr21	46498665	.	G	A	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.400e-01;DP=819;ExcessHet=0.0000;FS=4.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-1.784e+00;SOR=0.397	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1301,0,1532	20	0	1	0
chr22	15698769	15698769	G	T	splicing	POTEH	NM_001136213:exon4:c.1028+1G>T	.	.	.	.	498	1014	9	0	1	10	0.00441826	0.9999	0.792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.597	7.219	1.38	1.077	3.320	6.232	.	.	.	.	4.331e-05	0	0	0	0	6.256e-05	0.0012	0	3.84e-05	1	26028	rs768456850	3.639e-05	0.0009	1.775e-05	5.524e-05	0.0005	2.838e-05	2.574e-05	0.0003	0.0003	2.994e-05	0	0	0	0	0.0005	1.08e-05	1.665e-05	0.0004	7.241e-05	0.0008	3.864e-05	0.0001	0.0011	3.978e-05	3.133e-05	0.0004	0.0003	2.419e-05	0	6.543e-05	0	0	0	0	5.886e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.252898	0.13744	T	-0.601047	0.12723	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.520591	0.49350	22.8	0.8413159350197662	0.15115	0.65230	0.32668	D	AEFI	.	.	.	0.409239379146491	0.61929	4.40093	0.0426914032857451	0.41721	2.511202	1.53527211741348E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0859718	0.19548	1.54	1.54	0.22290	4.447000	0.59762	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	6.574	0.21751	.	.	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1582.98	181	chr22	15698769	.	G	T	1582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.141;DP=3894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.13;MQRankSum=-1.392e+00;QD=3.55;ReadPosRankSum=2.30;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,66:446:99:0|1:15698769_G_T:1597,0,15558:15698769	20	0	1	0
chr22	15711017	15711017	G	T	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon9:c.G1503T:p.E501D,	.	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470465845	2.604e-05	0.0005	1.09e-05	4.134e-05	0.0007	1.936e-05	1.695e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.898e-06	1.659e-05	0.0003	1.316e-05	0.0002	0	2.691e-05	0.0004	2.19e-06	8.2e-07	7.344e-05	3.049e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.81	0.22294	N	0.358	0.41063	-1.0493	0.14593	T	0.063	0.26065	T	9	0.10650462	0.19740	T	0.00104	0.01167	T	.	.	0.277	0.23004	0.0138822411134	0.00435	0.02823830488701238	0.02773	.	.	0.650555491447	0.60064	T	0.004782	0.04195	T	-0.191801	0.21993	T	-0.513286	0.20977	T	0.136628453409336	0.15982	T	0.681532	0.29028	T	.	.	.	.	.	.	.	.	-4.412	0.29719	T	.	.	0.156	0.34470	B	.;.	.;.	0.768235	0.11380	7.995	0.98322555819485691	0.40261	0.00981	0.03737	N	AEFI	0.031899	0.03500	N	-1.00265464351718	0.08549	0.4012335	-1.2184934362017	0.05612	0.267929	1.134474640041E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.58	-0.403	0.11782	-0.320000	0.08070	.	.	-0.632000	0.04510	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4253:0.0:0.5747:0.0	4.081	0.09402	.	.	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	36.98	183	chr22	15711017	.	G	T	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.908e+00;DP=4915;ExcessHet=0.0000;FS=4.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.45;MQRankSum=-2.323e+00;QD=0.09;ReadPosRankSum=0.293;SOR=0.426	GT:AD:DP:GQ:PL	0/1:349,47:396:51:51,0,8754	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	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	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,127:127:99:.:.:3769,381,0	3	11	7	0
chr22	21000727	21000727	C	G	exonic	THAP7	.	nonsynonymous SNV	THAP7:NM_030573:exon3:c.G297C:p.L99F	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.991	D	0.793	P	0.066	N	0.908	D	1.625	L	-3.93	D	0.711	D	0.830	D	0.273	2.924	15.74	3.22	1.137	-1.088	8.047	0.458	0.280544748449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.23997	T	0.132	0.34477	T	0.991	0.64070	D	0.793	0.57829	P	0.066247	0.21823	N	0.308799	0.908415	0.36347	D	1.735	0.44892	L	-3.93	0.96111	D	-1.1	0.28497	N	0.254	0.28732	0.711	0.93317	D	0.830	0.94309	D	10	0.36585528	0.53094	T	0.280545	0.90215	D	0.458	0.75619	0.532	0.64002	0.937969807214	0.93732	0.2123929642903581	0.21155	0.946982548129	0.72448	0.624253153801	0.56330	T	0.040956	0.25698	T	0.0424402	0.57364	T	-0.176814	0.56818	T	0.603788256645203	0.36551	D	0.743326	0.36245	T	0.054075863	0.10326	0.069629684	0.14694	0.054075863	0.10326	0.069629684	0.14694	-5.768	0.44294	T	.	.	0.098	0.16187	B	.;.	.;.	1.388399	0.18007	13.50	0.99704055386727652	0.80867	0.43319	0.27072	N	AEFDGBHCI	0.247279	0.36788	N	-0.014251535475362	0.41211	2.46094	-0.126705562004291	0.34318	1.972674	0.999999999999984	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.24	3.22	0.36041	-1.023000	0.03718	-1.637000	0.05012	-0.176000	0.10722	0.029000	0.20367	0.000000	0.08366	0.296000	0.24405	0.0:0.8872:0.0:0.1128	8.047	0.29718	856	0.34373	THAP-type zinc finger;THAP-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1340.98	40	chr22	21000727	.	C	G	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.840e-01;DP=924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.021;SOR=0.630	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1355,0,1528	20	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:12,3:15:81:81,0,305	9	0	9	3
chr22	23181282	23181282	C	G	exonic	BCR	.	nonsynonymous SNV	BCR:NM_004327:exon1:c.C322G:p.P108A	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.073	B	0.025	B	0.511	N	1.000	N	-0.345	N	1.75	T	-1.033	T	0.045	T	0.18	0.518	6.810	1.31	0.673	-0.084	6.656	0.020	0.0461994570136	.	0.000798722	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs559545244	3.835e-05	3.762e-05	2.864e-05	4.877e-05	0.0010	2.907e-05	2.589e-05	0.0008	0.0007	0	0	0	0	0	0.0003	3.158e-06	6.627e-05	0.0010	5.309e-05	5.911e-05	2.595e-05	8.151e-05	0.0014	2.58e-05	1.846e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.48e-05	0	0.0014	0.333	0.13003	T	0.884	0.03187	T	0.0	0.24078	B	0.0	0.20508	B	0.511208	0.11842	N	0.701012	0.999999	0.08975	N	0	0.06538	N	1.75	0.26152	T	-0.71	0.20145	N	0.109	0.13341	-1.0332	0.19427	T	0.045	0.19518	T	10	0.014239937	0.00300	T	0.046199	0.62343	D	0.020	0.03691	0.21	0.12781	0.287411543184	0.28351	0.2868132457411079	0.28594	0.368995655372	0.38434	0.85022354126	0.89649	D	0.281988	0.65472	T	-0.466519	0.00894	T	-0.617756	0.11362	T	0.0244466765368134	0.01201	T	0.671933	0.28057	T	0.027759584	0.02015	0.026618484	0.00760	0.027759584	0.02015	0.026618484	0.00760	-2.628	0.06790	T	.	.	0.050	0.00179	B	.;.	.;.	0.758073	0.11276	7.904	0.71234117978622669	0.09560	0.07304	0.13325	N	AEFDBCI	0.027125	0.02158	N	-1.01955490498949	0.08199	0.3835662	-1.01821451102835	0.09385	0.4666041	0.999988806763752	0.51787	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.249971	0.05119	0	.	.	3.81	1.31	0.20837	0.034000	0.13663	0.052000	0.14014	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1985:0.607:0.1945:0.0	6.656	0.22177	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1046.98	29	chr22	23181282	.	C	G	1046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-01;DP=678;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=31.73;ReadPosRankSum=0.507;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,26:33:99:0|1:23181281_G_A:1061,0,216:23181281	20	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:66,33:99:99:1187,0,2652	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:58,18:76:99:400,0,1454	12	0	9	0
chr22	30579802	30579802	C	T	exonic	PES1	.	nonsynonymous SNV	PES1:NM_001243225:exon12:c.G1288A:p.V430I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.048	B	0.008	B	0.023	N	1.000	D	0.515	N	1.44	T	-0.952	T	0.034	T	0.162	-0.543	1.536	-2.17	-0.718	-0.697	12.763	0.007	0.00488526083868	7.7e-05	0.000399361	4.127e-05	0.0003	0	0	0	3.005e-05	0	0	4.53e-05	7	154602	rs200061162	2.463e-05	2.463e-05	2.178e-05	2.75e-05	0.0002	1.803e-05	1.6e-05	9.75e-05	6.95e-05	0.0002	0	0	0	0	0	1.799e-05	9.935e-05	3.478e-05	6.567e-05	6.561e-05	6.424e-05	6.716e-05	0.0002	3.515e-05	2.615e-05	0.0001	9.915e-05	0.0002	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.965	0.02677	T	0.036	0.22112	B	0.004	0.13708	B	0.022643	0.26593	N	0.384511	0.999596	0.20909	N	0.19	0.09125	N	1.44	0.32722	T	0.1	0.06253	N	0.174	0.20925	-0.9518	0.40660	T	0.034	0.14683	T	10	0.01564449	0.00328	T	0.004885	0.12255	T	0.007	0.00512	.	.	0.253981072376	0.25009	0.11885074768316804	0.11812	0.200311802764	0.22433	0.261629670858	0.05086	T	0.260881	0.63230	T	-0.462624	0.00946	T	-0.622869	0.10962	T	0.00826923933923349	0.00099	T	0.644736	0.33571	T	0.012156959	0.00028	0.024492536	0.00470	0.012156959	0.00028	0.024492536	0.00469	-5.735	0.45221	T	.	.	0.067	0.03698	B	.;.;.;.;.	.;.;.;.;.	-1.314694	0.00426	0.008	0.81311549620457912	0.13623	0.11624	0.16756	N	AEFDBCI	0.047644	0.08045	N	-1.35328844063587	0.03091	0.1375337	-1.32610388336804	0.04096	0.1924805	0.557721187985373	0.21387	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	-2.17	0.06663	-0.676000	0.05321	-3.842000	0.02501	-1.635000	0.00848	0.001000	0.13787	0.000000	0.08366	0.835000	0.39381	0.0:0.2215:0.0:0.7785	12.763	0.56753	368	0.84463	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1640.98	37	chr22	30579802	.	C	T	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.127;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-2.020e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1655,0,1888	20	0	1	0
chr22	31091747	31091747	G	A	exonic	SMTN	.	nonsynonymous SNV	SMTN:NM_001207018:exon10:c.G1700A:p.R567H	.	.	426	1094	2	0	0	2	0.000913242	.	.	729147	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.92	T	0.005	B	0.002	B	0.069	N	0.964	N	-0.69	N	0.18	T	-1.014	T	0.055	T	0.19	-0.812	0.643	3.17	0.774	0.831	5.468	0.039	.	0.0032	0.00299521	0.0009	0.0102	0.0003	0	0	3.287e-05	0	0	0.0007956	123	154602	rs116593437	0.0004	0.0004	0.0004	0.0003	0.0117	0.0003	0.0003	0.0107	0.0103	0.0117	0.0005	0	0	0	0.0002	5.22e-05	0.0007	0	0.0029	0.0029	0.0026	0.0031	0.0100	0.0026	0.0025	0.0092	0.0089	0.0100	0	0.0006	0	0	0	0	4.41e-05	0.0028	0.0002	1.0	0.00964	T	0.277	0.22895	T	0.001	0.11197	B	0.001	0.06944	B	0.068792	0.21649	N	0.236513	0.999999	0.08975	N	-1.355	0.00654	N	0.18	0.66834	T	-0.1	0.09965	N	0.111	0.13341	-1.0143	0.25561	T	0.055	0.23224	T	10	0.0018469095	0.00025	T	.	.	.	0.039	0.10176	.	.	0.248133497653	0.24425	0.2692496133024668	0.26837	0.196804405549	0.22053	0.224543750286	0.01588	T	0.032808	0.22648	T	-0.513294	0.00481	T	-0.500693	0.22275	T	0.00237547254754805	0.00025	T	0.854215	0.54045	D	0.01711628	0.00247	0.022821663	0.00300	0.01711628	0.00247	0.022821663	0.00300	-5.22	0.39144	T	.	.	0.057	0.00563	B	.;.;.;.;.	.;.;.;.;.	1.221213	0.16152	12.35	0.7674551142622239	0.11592	0.02881	0.07661	N	AEFGBI	0.045953	0.07574	N	-1.15189529137384	0.05749	0.2629024	-1.00363659961469	0.09705	0.484389	0.978638647299869	0.29943	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.21	3.17	0.35510	-0.108000	0.10827	4.025000	0.41286	-0.116000	0.14526	0.000000	0.06391	0.997000	0.33255	0.769000	0.36481	0.7651:0.0:0.2349:0.0	5.468	0.15950	637	0.64373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	877.98	37	chr22	31091747	.	G	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=813;ExcessHet=0.0000;FS=1.951;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-3.810e-01;SOR=1.016	GT:AD:DP:GQ:PL	0/1:38,35:73:99:892,0,916	20	0	1	0
chr22	31135802	31135802	A	C	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon7:c.T1451G:p.M484R,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.0	B	0.052	N	1.000	N	0.695	N	2.65	T	-0.987	T	0.011	T	0.151	1.558	11.16	-4.31	-0.752	-1.603	2.043	0.013	.	0.0027	0.00339457	0.0009	0.0099	0.0006	0	0	0	0	0.0001	0.0009056	140	154602	rs116007140	0.0003	0.0003	0.0003	0.0003	0.0107	0.0003	0.0003	0.0098	0.0094	0.0107	0.0006	0	0	0	0.0002	1.709e-05	0.0005	3.478e-05	0.0028	0.0028	0.0026	0.0030	0.0099	0.0026	0.0025	0.0091	0.0088	0.0099	0	0.0005	0	0	0	0	7.35e-05	0.0024	0.0006	0.012	0.54683	D	0.023	0.57104	D	0.0	0.02946	B	0.0	0.01387	B	0.052413	0.02036	N	1.870140	1	0.08975	N	0.345	0.11182	N	2.65	0.12676	T	-1.03	0.27052	N	0.152	0.15609	-0.9866	0.33445	T	0.011	0.04042	T	10	0.0038487911	0.00073	T	.	.	.	0.013	0.01715	.	.	0.0551355673512	0.04727	0.3575953989100997	0.35673	0.102388022642	0.11590	0.251813113689	0.03961	T	0.026701	0.19707	T	-0.616005	0.00116	T	-0.649664	0.08978	T	0.00395472411240112	0.00042	T	0.179182	0.01770	T	0.58899254	0.72096	0.25641567	0.51342	0.58899254	0.72097	0.25641567	0.51341	-0.402	0.00527	T	.	.	0.077	0.06341	B	.	.	-1.194307	0.00536	0.013	0.68255368631262248	0.08602	0.01253	0.04406	N	AEFGBI	0.059973	0.11365	N	-1.16172435047825	0.05589	0.2552121	-1.236275219561	0.05338	0.2540657	0.993060692528939	0.33071	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.38	-4.31	0.03443	-1.481000	0.02428	-1.788000	0.04725	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.2596:0.3815:0.2348:0.1241	2.043	0.03338	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	489.98	33	chr22	31135802	.	A	C	489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.114;DP=752;ExcessHet=0.0000;FS=2.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=-3.050e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:36,22:58:99:504,0,920	20	0	1	0
chr22	35659460	35659460	G	T	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.G896T:p.R299M,	.	.	426	1092	3	1	0	5	0.00228415	.	.	2757613	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.788	P	0.006	N	1.000	N	1.95	M	3.69	T	-1.070	T	0.035	T	0.35	2.824	15.41	1.47	0.402	0.343	5.271	0.087	0.00197415991504	0.0002	0.000199681	0.0004	0	0.0007	0	0	0.0005	0.0011	0.0001	0.0003363	52	154602	rs143747983	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	0.0007	0.0021	0	0	0.0014	0.0001	0.0007	0.0002	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.407e-05	0	0.0002	0.0020	0	0	0.0034	0.0003	0.0009	0.0002	0.008	0.58626	D	0.069	0.43913	T	0.997	0.70673	D	0.788	0.57636	P	0.006453	0.01126	N	2.690230	1	0.08975	N	0.805	0.20218	L	3.69	0.04114	T	-1.22	0.30964	N	0.169	0.17966	-1.0704	0.09326	T	0.035	0.14857	T	10	0.015891016	0.00334	T	0.001974	0.03535	T	0.087	0.25287	.	.	0.315314060047	0.31143	0.10075640711837991	0.10006	0.577070027073	0.53648	0.285135239363	0.08218	T	0.03494	0.23521	T	-0.461066	0.00968	T	-0.538155	0.18478	T	0.0644436297534594	0.07848	T	0.39826	0.10085	T	0.05755945	0.11469	0.039490785	0.04053	0.05755945	0.11469	0.039490785	0.04052	-4.58	0.31920	T	.	.	0.27	0.50417	B	.	.	2.103594	0.26765	17.23	0.95407072372017221	0.26866	0.11553	0.16710	N	AEFBI	0.034009	0.04140	N	-0.220906233430654	0.32275	1.81855	-0.463668493776469	0.23162	1.261718	0.999734558564278	0.42341	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.51	1.47	0.21832	-0.346000	0.07809	0.850000	0.22129	0.596000	0.33519	0.000000	0.06391	0.002000	0.18203	0.427000	0.27384	0.1716:0.0:0.8284:0.0	5.271	0.14935	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1389.98	35	chr22	35659460	.	G	T	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.248e+00;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.18;ReadPosRankSum=0.103;SOR=0.675	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1404,0,1300	20	0	1	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	0/1:23,37,0:60:99:1465,0,846,1534,958,2492	13	1	6	0
chr22	37510366	37510366	C	G	exonic	CARD10	.	nonsynonymous SNV	CARD10:NM_014550:exon4:c.G755C:p.R252P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.942	D	0.179	N	1.000	N	2.44	M	1.21	T	-0.540	T	0.203	T	0.57	2.247	13.47	3.69	0.967	2.078	10.692	0.223	0.0581605006615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	2.724e-06	4.127e-06	0.0002	1e-06	7.3e-07	.	.	2.987e-05	0	0	0	0	0.0002	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.942	0.67772	D	0.179395	0.17145	N	0.546700	0.503535	0.31706	N	2.715	0.79425	M	1.21	0.37230	T	-4.01	0.74193	D	0.711	0.71410	-0.5396	0.67178	T	0.203	0.56017	T	10	0.83171	0.82333	D	0.058161	0.67222	D	0.223	0.52023	0.26	0.20315	0.66885242914	0.66606	0.6953146231062038	0.69472	0.482782264221	0.47234	0.626899778843	0.56706	T	0.67391	0.90351	D	-0.023453	0.48359	T	-0.271465	0.47672	T	0.982218325138092	0.74360	D	0.768523	0.39806	T	0.7179449	0.79047	0.7382817	0.84530	0.7179449	0.79049	0.7382817	0.84532	-9.297	0.69588	D	.	.	0.456	0.62499	A	.;.	.;.	4.186845	0.63073	24.5	0.9879739619953084	0.46397	0.94042	0.59938	D	AEFBCI	0.751174	0.69206	D	0.361987451248926	0.59374	4.116439	0.232304421890361	0.51649	3.345589	0.999998423997749	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.71	3.69	0.41483	3.278000	0.51366	2.170000	0.31047	0.598000	0.34611	0.996000	0.39380	0.975000	0.29991	0.786000	0.37147	0.0:0.8395:0.0:0.1605	10.692	0.45076	940	0.13648	.;.	.	.	.	.	.	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	0.02381	729.98	40	chr22	37510366	.	C	G	729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=852;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=0.657;SOR=0.846	GT:AD:DP:GQ:PL	0/1:45,32:77:99:744,0,1130	20	0	1	0
chr22	37645482	37645482	T	C	exonic	SH3BP1	.	nonsynonymous SNV	SH3BP1:NM_001350055:exon10:c.T896C:p.M299T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.98	D	0.816	P	0.000	D	0.996	D	1.87	L	2.83	T	-1.108	T	0.056	T	0.612	2.997	15.99	5.6	2.139	7.991	15.790	0.315	0.0191327788136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	3.42e-06	4.085e-06	1.376e-06	0.0003	6.4e-07	4.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.36310	T	0.001	0.83351	D	0.98	0.59353	D	0.816	0.58888	P	0.000013	0.62929	D	0.070422	0.996244	0.43096	D	1.15	0.29295	L	2.83	0.10771	T	-5.26	0.84105	D	0.806	0.80180	-1.1076	0.03284	T	0.056	0.23565	T	10	0.6105651	0.67421	D	0.019133	0.41408	T	0.315	0.63694	0.575	0.69957	0.44898880988	0.44520	0.7212685612543738	0.72069	0.580245724104	0.53879	0.802487134933	0.82342	T	0.065685	0.32753	T	-0.0682536	0.41606	T	-0.335818	0.40817	T	0.977017402648926	0.71645	D	0.80302	0.45619	T	0.3717726	0.58715	0.6012432	0.76832	0.3717726	0.58716	0.6012432	0.76833	-9.47	0.70672	D	.	.	0.660	0.71314	P	.;.;.	.;.;.	4.667575	0.74564	26.2	0.9671342775221563	0.30821	0.97829	0.77440	D	AEFBCI	0.923531	0.90014	D	0.442416055134698	0.63774	4.617722	0.511788776274383	0.68781	5.267852	0.999999999937623	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	7.969000	0.87564	7.843000	0.70613	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.790	0.78122	934	0.15400	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	515.98	33	chr22	37645482	.	T	C	515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.022e+00;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.75;ReadPosRankSum=-6.190e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:33,26:59:99:530,0,885	20	0	1	0
chr22	39045473	39045473	C	A	exonic	APOBEC3F	.	nonsynonymous SNV	APOBEC3F:NM_145298:exon4:c.C497A:p.P166Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.03	B	0.018	B	.	.	1.000	N	0.765	N	-0.02	T	-1.044	T	0.076	T	0.215	0.187	5.006	-1.43	-0.226	-0.825	1.045	0.084	.	0.0011	0.00179712	0.0039	0.0002	0	0	0.0292	0.0040	0.0044	0	0.0032276	499	154602	rs138934952	0.0022	0.0022	0.0023	0.0021	0.0016	0.0021	0.0021	0.0015	0.0015	0.0003	4.472e-05	0.0001	0	0.0246	0.0010	0.0016	0.0017	0	0.0027	0.0028	0.0015	0.0040	0.0017	0.0025	0.0024	0.0015	0.0014	0.0002	0	0.0001	0.0003	0	0.0269	0.0034	0.0017	0.0009	0	0.184	0.21634	T	0.625	0.07316	T	0.03	0.20002	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	1.825	0.47900	L	-0.02	0.62918	T	-0.78	0.21644	N	0.226	0.25377	-1.0442	0.16059	T	0.076	0.30584	T	9	0.018758416	0.00411	T	.	.	.	0.084	0.24469	.	.	0.270447802918	0.26645	0.12869000032582267	0.12793	0.337694586208	0.35753	0.340191364288	0.16467	T	0.005804	0.05248	T	-0.486867	0.00676	T	-0.47643	0.24828	T	0.00465764849978056	0.00050	T	0.383762	0.09387	T	0.11159489	0.26371	0.062818594	0.12350	0.11159489	0.26371	0.062818594	0.12350	-6.138	0.47420	T	.	.	0.140	0.30582	B	.	.	-0.257522	0.02810	0.387	0.52852199777703457	0.04827	0.01609	0.05211	N	AEFGBI	0.041288	0.06258	N	-1.22239804252766	0.04676	0.211567	-1.32019040554019	0.04169	0.1961046	0.0531690586717994	0.14930	0.722319	0.85440	0	0.698795	0.70079	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	2.27	-1.43	0.08418	-0.351000	0.07760	-8.031000	0.01041	-0.268000	0.06776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2303:0.3935:0.226:0.1502	1.045	0.01470	344	0.85734	APOBEC-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2876.98	33	chr22	39045473	.	C	A	2876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=1057;ExcessHet=0.0000;FS=2.064;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.67;MQRankSum=-3.294e+00;QD=10.58;ReadPosRankSum=-5.640e-01;SOR=0.823	GT:AD:DP:GQ:PL	0/1:164,108:272:99:2891,0,4262	20	0	1	0
chr22	39685851	39685851	G	T	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon36:c.G6013T:p.D2005Y	.	.	413	1096	13	0	0	13	0.00589569	.	.	3198384	CACNA1I-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.865	P	0.018	U	1.000	N	0.805	L	1.38	T	-0.819	T	0.157	T	0.526	3.648	18.55	3.3	1.535	4.902	14.906	0.213	.	.	.	0.0048	0	0.0139	0	.	0.0025	0.0102	0.0056	0.000401	62	154602	rs771105041	0.0009	0.0008	0.0007	0.0010	0.0061	0.0008	0.0008	0.0042	0.0036	3.725e-05	0.0003	0	0	3.046e-05	0.0061	0.0008	0.0013	0.0034	0.0006	0.0006	0.0007	0.0006	0.0017	0.0005	0.0005	0.0008	0.0008	7.226e-05	0	0.0003	0	0	0.0002	0.0103	0.0010	0.0014	0.0017	0.03	0.45393	D	0.037	0.51737	D	0.995	0.67487	D	0.865	0.61524	P	0.018447	0.01488	U	18.804800	0.870191	0.28219	N	1.735	0.44892	L	1.38	0.34050	T	-2.65	0.56787	D	0.309	0.34874	-0.8186	0.54022	T	0.157	0.49010	T	10	0.005474776	0.00121	T	.	.	.	0.213	0.50496	.	.	0.419361210318	0.41555	0.5343302111735805	0.53358	0.928649804324	0.71733	0.953547596931	0.99820	D	0.168662	0.51575	T	-0.405571	0.02127	T	-0.354948	0.38638	T	0.0781123692269203	0.09743	T	0.828817	0.49341	T	0.27131626	0.50202	0.27742136	0.53695	0.27131626	0.50202	0.27742136	0.53694	-5.079	0.37685	T	.	.	0.374	0.60496	A	.;.	.;.	3.860389	0.55978	23.7	0.99567203068229992	0.72136	0.85397	0.44526	D	AEFDBI	0.569297	0.57413	D	0.319743582898387	0.57162	3.882627	0.289774718371548	0.54940	3.657834	0.999929085419733	0.46280	0.608966	0.35542	0	0.657636	0.61667	0	0.769059	0.98459	0	0.63947	0.58350	0	.	.	3.3	3.3	0.36912	2.769000	0.47338	10.752000	0.83680	0.500000	0.22704	0.999000	0.42656	1.000000	0.68203	0.794000	0.37478	0.0:0.0:1.0:0.0	14.906	0.70368	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	374.98	32	chr22	39685851	.	G	T	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.870;DP=763;ExcessHet=0.0000;FS=1.320;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=1.57;SOR=0.673	GT:AD:DP:GQ:PL	0/1:20,15:35:99:389,0,504	20	0	1	0
chr22	40419116	40419116	A	C	exonic	MRTFA	.	nonsynonymous SNV	MRTFA:NM_001282660:exon9:c.T1322G:p.V441G	.	.	373	1101	42	6	0	54	0.0239362	.	.	706462	not_provided|MRTFA-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.938	P	0.399	B	0.120	N	1.000	D	2.76	M	0.7	T	-0.744	T	0.181	T	0.39	3.531	18.02	4.92	2.065	5.633	13.287	0.203	.	.	0.00399361	0.0038	0	0.0002	0	0	0.0004	0.0024	0.0162	0.0017011	263	154602	rs200792263	0.0013	0.0013	0.0008	0.0018	0.0150	0.0012	0.0012	0.0143	0.0140	9.183e-05	0.0003	0	0.0002	0	0.0082	0.0004	0.0016	0.0150	0.0007	0.0007	0.0005	0.0009	0.0104	0.0006	0.0005	0.0081	0.0073	2.421e-05	0	0.0003	0	0	0	0.0068	0.0006	0.0009	0.0104	0.05	0.39575	D	0.041	0.70582	D	0.938	0.52538	P	0.399	0.44455	B	0.119849	0.19058	N	0.546246	0.999998	0.58761	D	.	.	.	0.7	0.51952	T	-3.82	0.71997	D	0.488	0.52651	-0.7444	0.58226	T	0.181	0.52813	T	10	0.008742601	0.00198	T	.	.	.	0.203	0.48915	.	.	0.512526160644	0.50892	.	.	0.089058211992	0.10066	0.462075471878	0.33595	T	0.519117	0.83149	D	-0.375297	0.03334	T	-0.299541	0.44774	T	0.0570930614923195	0.06703	T	0.836716	0.52087	T	0.50896835	0.67619	0.3854988	0.63465	0.50896835	0.67620	0.3854988	0.63465	-7.904	0.60414	D	.	.	0.165	0.36455	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.686100	0.52496	23.2	0.99623362330185161	0.75594	0.90171	0.51140	D	AEFDBHCI	0.269436	0.38571	N	0.261401348078066	0.54206	3.586726	0.330704994839459	0.57353	3.900595	0.999892152714616	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.92	4.92	0.64147	3.915000	0.56121	11.166000	0.87810	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	13.287	0.59685	545	0.72614	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	432.98	41	chr22	40419116	.	A	C	432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.076e+00;DP=782;ExcessHet=0.0000;FS=1.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.49;ReadPosRankSum=0.928;SOR=0.677	GT:AD:DP:GQ:PL	0/1:30,21:51:99:447,0,849	20	0	1	0
chr22	41586172	41586172	C	T	exonic	PMM1	.	nonsynonymous SNV	PMM1:NM_002676:exon2:c.G109A:p.A37T,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.173	N	1.000	N	0.655	N	-4.82	D	0.203	D	0.799	D	0.087	2.189	13.28	1.96	0.216	1.496	6.133	0.258	0.0745809131451	.	0.000199681	0.0001	9.796e-05	0.0002	0	0	4.538e-05	0	0.0005	9.7e-05	15	154602	rs542899408	7.883e-05	8.209e-05	6.412e-05	9.369e-05	0.0007	6.68e-05	6.214e-05	0.0005	0.0005	5.985e-05	0.0001	3.829e-05	0	0	0.0005	3.418e-05	0.0001	0.0007	5.254e-05	5.25e-05	6.426e-05	4.029e-05	0.0006	2.556e-05	1.829e-05	0.0002	9.003e-05	7.218e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.263	0.16412	T	0.311	0.19660	T	0.0	0.02946	B	0.0	0.01387	B	0.172779	0.17327	N	0.579827	0.961079	0.26122	N	0.79	0.19579	N	-4.82	0.98198	D	-0.37	0.13226	N	0.29	0.32812	0.203	0.85960	D	0.799	0.93198	D	10	0.07840848	0.12493	T	0.074581	0.72077	D	0.258	0.56959	0.331	0.31681	0.923209768708	0.92242	0.33109612779718284	0.33022	0.343857825352	0.36312	0.406272530556	0.25940	T	0.690261	0.90987	D	-0.260927	0.12793	T	-0.260861	0.48738	T	0.0173662253853184	0.00475	T	0.489851	0.15048	T	0.034704678	0.03946	0.053919658	0.09175	0.034704678	0.03946	0.053919658	0.09175	-5.305	0.39993	T	.	.	0.081	0.08368	B	.	.	1.777443	0.22601	15.69	0.96056974389854899	0.28582	0.73038	0.35733	D	AEFBI	0.222293	0.34681	N	-0.88754881873684	0.11138	0.5358867	-0.780586264683251	0.14971	0.7850493	0.950279873373783	0.27887	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.18	1.96	0.25203	1.226000	0.32167	1.786000	0.28758	-0.860000	0.02636	0.548000	0.27330	0.928000	0.28476	0.485000	0.28678	0.0:0.6429:0.1339:0.2233	6.133	0.19432	107	0.95615	.	.	.	.	.	.	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	0.04762	1816.11	33	chr22	41586172	.	C	T	1816.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=822;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=1.38;SOR=0.704	GT:AD:DP:GQ:PL	0/1:30,30:60:99:755,0,636	19	0	2	0
chr22	42078022	42078022	G	C	exonic	PHETA2	.	nonsynonymous SNV	PHETA2:NM_001002034:exon3:c.G729C:p.Q243H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.845	P	0.533	P	0.613	N	0.546	D	0.55	N	0.83	T	-0.776	T	0.135	T	0.143	1.416	10.67	5.22	2.432	3.446	16.964	0.081	0.0259672161405	.	.	1.246e-05	0	0	0	0	2.25e-05	0	0	6.5e-06	1	154602	rs754522461	7.545e-06	7.524e-06	9.551e-06	5.518e-06	0.0003	4.05e-06	2.96e-06	6.107e-05	2.527e-05	0	2.256e-05	0	0	0	0.0003	5.403e-06	3.324e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.143	0.33219	T	0.845	0.46707	P	0.533	0.48638	P	0.612579	0.10852	N	0.818085	0.546409	0.32096	D	2.505	0.72935	M	0.83	0.47815	T	-1.78	0.42001	N	0.117	0.10626	-0.7759	0.56531	T	0.135	0.45029	T	10	0.20271182	0.36401	T	0.025967	0.48910	D	0.081	0.23632	0.22	0.14224	0.218112801441	0.21410	0.2783581610854638	0.27748	0.47288450683	0.46523	0.236071109772	0.02447	T	0.024926	0.18739	T	-0.17504	0.24476	T	-0.48921	0.23475	T	0.23684765709445	0.22274	T	0.462454	0.13421	T	0.12561241	0.29442	0.11086617	0.26737	0.12561241	0.29441	0.11086617	0.26736	-4.781	0.34369	T	.	.	0.235	0.46870	B	.	.	2.158122	0.27490	17.48	0.97697730889078627	0.35418	0.97617	0.75933	D	AEFDBI	0.628134	0.61034	D	0.180685878563099	0.50272	3.218849	0.217127310894882	0.50797	3.268071	0.999999999373166	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	3.522000	0.53236	4.000000	0.41065	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.077000	0.17074	0.0:0.0:1.0:0.0	16.964	0.86152	108	0.95573	.	.	.	.	.	.	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	0.02381	1165.98	42	chr22	42078022	.	G	C	1165.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.810e-01;DP=896;ExcessHet=0.0000;FS=0.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=1.30;SOR=0.593	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1180,0,1043	20	0	1	0
chr22	43129256	43129256	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon5:c.C434T:p.A145V,	.	.	415	1090	14	0	3	17	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.113	B	0.05	B	0.145	N	0.962	N	0.55	N	1.9	T	-1.026	T	0.024	T	0.167	1.143	9.657	3.61	0.829	-0.338	7.253	0.056	.	0.0025	0.00339457	0.0042	0.0011	0.0029	0	0.0005	0.0064	0.0074	0.0018	0.003868	598	154602	rs148407250	0.0049	0.0049	0.0049	0.0049	0.0096	0.0048	0.0048	0.0076	0.0068	0.0009	0.0039	0.0065	0	0.0003	0.0096	0.0056	0.0052	0.0020	0.0038	0.0038	0.0041	0.0036	0.0071	0.0036	0.0035	0.0060	0.0056	0.0008	0	0.0071	0.0096	0.0002	0.0002	0.0069	0.0057	0.0048	0.0013	0.596	0.05703	T	1.0	0.01155	T	0.113	0.26349	B	0.05	0.25278	B	0.145427	0.02919	N	2.124800	0.961926	0.26087	N	0.55	0.14455	N	1.9	0.23486	T	0.96	0.01488	N	0.108	0.09349	-1.0255	0.21919	T	0.024	0.10103	T	10	0.004980862	0.00107	T	.	.	.	0.056	0.15993	.	.	0.202949470691	0.19918	0.009953428289389917	0.00957	0.0336267795191	0.03527	0.306395083666	0.11363	T	0.088783	0.38232	T	-0.611504	0.00124	T	-0.648131	0.09084	T	0.0113428626977373	0.00168	T	0.309269	0.05988	T	0.020216616	0.00573	0.037289545	0.03352	0.020216616	0.00573	0.037289545	0.03352	-3.414	0.15245	T	.	.	0.114	0.22825	B	.	.	1.331438	0.17365	13.12	0.99046876665381955	0.51162	0.00593	0.02656	N	ALL	0.028383	0.02490	N	-0.896321564513598	0.10929	0.5247801	-0.822752233153428	0.13945	0.7260938	0.9999989973616	0.74766	0.495158	0.18159	0	0.519925	0.08708	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.64	3.61	0.40494	-0.124000	0.10571	-0.706000	0.07772	-1.157000	0.01417	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:0.1045:0.0:0.8955	7.253	0.25337	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	870.98	27	chr22	43129256	.	C	T	870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=815;ExcessHet=0.0000;FS=1.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.624;SOR=0.984	GT:AD:DP:GQ:PL	0/1:36,37:73:99:885,0,732	20	0	1	0
chr22	45205272	45205272	T	C	exonic	KIAA0930	.	nonsynonymous SNV	KIAA0930:NM_001009880:exon5:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.982	D	0.000	D	1.000	D	1.81	L	.	.	-0.249	T	0.374	T	0.784	3.579	18.23	4.39	1.760	7.778	13.925	0.459	0.0421084660524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.44694	D	0.08	0.42614	T	0.248	0.31148	B	0.112	0.31615	B	0.000002	0.62929	D	0.097389	1	0.81001	D	1.995	0.54099	M	.	.	.	-5.16	0.84882	D	0.819	0.81857	-0.2487	0.76395	T	0.374	0.73257	T	9	0.7402502	0.74906	D	0.042108	0.60287	D	0.459	0.75687	0.583	0.70990	0.0934897674506	0.08844	0.3406560625478182	0.33978	1.0122793452	0.74820	0.791417241096	0.80658	T	0.310622	0.68257	T	0.237128	0.77390	D	0.102842	0.77096	D	0.99134236574173	0.81628	D	0.940906	0.88325	D	0.46017575	0.64681	0.4798742	0.69875	0.46017575	0.64682	0.4798742	0.69875	-4.328	0.28914	T	.	.	0.441	0.67744	A	.;.;.;.;.;.	.;.;.;.;.;.	5.151041	0.86272	28.9	0.99841852299815859	0.92229	0.97508	0.75205	D	AEFBI	0.959716	0.98018	D	0.322131170296415	0.57287	3.895	0.371963463967289	0.59842	4.16561	0.999999999577547	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	7.874000	0.85582	7.692000	0.65839	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.0:1.0	13.925	0.63461	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1181.98	36	chr22	45205272	.	T	C	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.176;DP=796;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-2.910e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1196,0,1574	20	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9259.9	36	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C,*	9259.9	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=1.32;DP=1395;ExcessHet=0.0303;FS=0.551;InbreedingCoeff=0.3824;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-6.650e-01;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:50,0,24:74:99:.:.:850,1001,3057,0,2056,1981	15	1	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:50,0,24:74:99:.:.:850,1001,3057,0,2056,1981	7	1	7	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1933.0	36	chr22	49922325	.	G	C,*	1933.0	.	AC=1,7;AF=0.025,0.175;AN=40;BaseQRankSum=1.19;DP=1482;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3872;MLEAC=1,7;MLEAF=0.025,0.175;MQ=60.00;MQRankSum=0.00;QD=3.70;ReadPosRankSum=1.36;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:50,0,24:74:99:.:.:850,1001,3057,0,2056,1981	14	0	1	1
chr22	50108204	50108204	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon4:c.G511A:p.E171K	.	.	429	1086	7	0	0	7	0.00321248	.	.	2367252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.45	T	0.897	P	0.38	B	0.000	D	1.000	D	1.09	L	1.5	T	-1.088	T	0.049	T	0.352	1.228	9.982	2.01	0.226	3.163	6.750	0.052	0.0113951479358	0.0002	.	0.0006	9.929e-05	0.0008	0	0.0002	0.0009	0.0023	6.2e-05	0.0005304	82	154602	rs147590689	0.0005	0.0005	0.0005	0.0005	0.0184	0.0004	0.0004	0.0155	0.0145	0.0002	0.0007	0.0008	2.519e-05	0.0005	0.0184	0.0004	0.0007	6.958e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	7.22e-05	0	0.0005	0.0012	0	0.0006	0.0034	0.0003	0	0	0.338	0.14743	T	0.628	0.12351	T	0.209	0.29944	B	0.028	0.21332	B	0.000432	0.44522	D	0.230390	0.999943	0.51968	D	1.495	0.37439	L	1.5	0.31205	T	-1.91	0.44471	N	0.376	0.41754	-1.0882	0.05839	T	0.049	0.20789	T	10	0.04287961	0.03081	T	0.011395	0.28966	T	0.052	0.14661	.	.	0.417586769301	0.41374	0.48113192009285644	0.48033	0.113003848232	0.12758	0.551841974258	0.46117	T	0.068948	0.33586	T	-0.411469	0.01944	T	-0.463524	0.26216	T	0.0378089366859491	0.03299	T	0.824018	0.48536	T	0.10496916	0.24816	0.106903814	0.25727	0.10496916	0.24816	0.106903814	0.25726	-8.566	0.66551	D	.	.	0.130	0.37445	B	.;.;.;.	.;.;.;.	2.646161	0.34442	19.63	0.99012786510645634	0.50399	0.55225	0.29811	D	AEFBI	0.142052	0.26439	N	-0.497832587276915	0.22151	1.180802	-0.500824956574363	0.22131	1.200569	0.00758309322979938	0.11500	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.28	2.01	0.25568	3.545000	0.53401	7.611000	0.61914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.1643:0.1467:0.689:0.0	6.750	0.22671	929	0.16858	.;.;.;.	.	.	.	.	.	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	0.02381	905.98	36	chr22	50108204	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=755;ExcessHet=0.0000;FS=0.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=0.051;SOR=0.752	GT:AD:DP:GQ:PL	0/1:27,34:61:99:920,0,602	20	0	1	0
chrX	2789668	2789668	G	A	exonic	XG	.	nonsynonymous SNV	XG:NM_001141919:exon5:c.G215A:p.R72H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.0	B	0.972	N	1.000	N	0.895	L	1.78	T	-1.041	T	0.033	T	0.084	-0.600	1.318	-4.52	-2.872	-0.864	1.782	0.014	0.00113772002692	0.0002	.	0.0002	0.0006	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs141168663	2.565e-05	2.914e-05	2.088e-05	3.593e-05	0.0005	1.757e-05	1.505e-05	0.0003	0.0003	8.105e-05	3.371e-05	0	0	0	0	2.444e-06	0	0.0005	4.474e-05	5.227e-05	2.571e-05	8.833e-05	0.0002	1.708e-05	1.05e-05	6.362e-05	4.132e-05	0.0002	0	0	0	0	0	0	0	0	0	0.188	0.21304	T	0.223	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	0.971534	0.07782	N	1.015150	1	0.08975	N	0.895	0.22405	L	1.78	0.25678	T	-0.31	0.21644	N	0.049	0.02088	-1.0409	0.17041	T	0.033	0.14203	T	10	0.019914389	0.00451	T	0.001138	0.01410	T	0.014	0.01968	.	.	0.0297737177859	0.01360	0.06959100000101906	0.06897	0.139262739081	0.15693	0.27539101243	0.06858	T	0.105032	0.41513	T	-0.522637	0.00425	T	-0.988509	0.00162	T	0.0323891803680994	0.02370	T	0.635836	0.25884	T	0.038379252	0.05102	0.039971728	0.04213	0.038379252	0.05102	0.039971728	0.04213	-5.242	0.42045	T	.	.	0.103	0.18539	B	.;.;.;.	.;.;.;.	0.171781	0.05604	2.060	0.86600416714295925	0.16645	0.00116	0.00732	N	AEFI	.	.	.	.	.	.	.	.	.	0.999985930645294	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.26	-4.52	0.03227	-1.306000	0.02844	-5.018000	0.01884	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4238:0.1824:0.2792:0.1146	1.782	0.02851	1000	0.00083	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	519.98	34	chrX	2789668	.	G	A	519.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.340e-01;DP=645;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.12;SOR=0.631	GT:AD:DP:GQ:PL	0/1:24,23:47:99:534,0,580	20	0	1	0
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1960.98	281	chrX	6533828	.	C	T,*	1960.98	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-4.230e-01;DP=4752;ExcessHet=0.8560;FS=1.716;InbreedingCoeff=0.0215;MLEAC=3,3;MLEAF=0.115,0.115;MQ=46.81;MQRankSum=-6.630e-01;QD=2.78;ReadPosRankSum=-1.398e+00;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,28,0:110:99:.:.:396,0,2759,801,2765,4188	9	0	2	8
chrX	7843768	7843768	-	CTGTGTGGAT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.373_374insCTGTGTGGAT:p.S125Tfs*128,	.	.	576	718	155	12	61	240	0.110836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001921	5	26028	rs768077574	0.0023	0.0032	0.0029	0.0006	0.0052	0.0022	0.0021	0.0030	0.0028	0.0015	0.0023	0.0057	0.0036	0.0045	0.0052	0.0020	0.0039	0.0010	0.0015	0.0055	0.0019	0	0.0022	0.0013	0.0012	0.0015	0.0013	0.0011	0.0028	0.0007	0.0022	0.0020	0.0011	0.0086	0.0018	0.0014	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	580.02	50	chrX	7843768	.	A	ACTGT,ACTGTGTGGAT	580.02	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.087e+00;DP=2172;ExcessHet=0.3300;FS=52.634;InbreedingCoeff=-0.0770;MLEAC=2,1;MLEAF=0.048,0.024;MQ=34.60;MQRankSum=0.657;QD=8.41;ReadPosRankSum=-1.973e+00;SOR=1.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,6:31:99:0|1:7843706_T_C:134,111,949,0,868,909:7843706	18	0	2	0
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2446.35	418	chrX	7843933	.	A	G,*	2446.35	.	AC=2,2;AF=0.063,0.063;AN=32;BaseQRankSum=4.80;DP=4453;ExcessHet=0.7148;FS=15.808;InbreedingCoeff=-0.0857;MLEAC=2,2;MLEAF=0.063,0.063;MQ=44.62;MQRankSum=-5.000e-03;QD=2.95;ReadPosRankSum=-4.069e+00;SOR=1.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,60,0:131:99:0|1:7843933_A_G:1557,0,1407,1769,1587,3357:7843933	12	0	2	5
chrX	7843975	7843975	-	TGAGT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.580_581insTGAGT:p.P194Lfs*48,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.514e-05	0.0003	0	0	0	0	0	0	3.84e-05	1	26028	rs778613852	1.566e-05	4.921e-05	2.311e-05	0	0.0002	8.4e-06	6.14e-06	8.112e-05	5.729e-05	0	0	0	0	0	0	5.753e-06	3.205e-05	0.0002	1.383e-05	8.733e-05	1.702e-05	0	4.908e-05	0	0	.	.	4.908e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	887.11	416	chrX	7843975	.	C	CTGAGT	887.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.65;DP=4770;ExcessHet=0.0000;FS=16.335;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=40.23;MQRankSum=-3.850e-01;QD=6.62;ReadPosRankSum=-6.958e+00;SOR=1.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,43:134:99:0|1:7843933_A_G:900,0,2935:7843933	17	0	1	3
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,90,0,43:133:99:.:.:7126,1506,899,6020,1470,5719,3310,0,3309,2936	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,90,0,43:133:99:.:.:7126,1506,899,6020,1470,5719,3310,0,3309,2936	0	8	6	4
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del,	.	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1970.09	8	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	AGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA,G	1970.09	.	AC=1,1;AF=0.028,0.028;AN=36;BaseQRankSum=-8.600e-01;DP=1087;ExcessHet=0.1259;FS=0.000;InbreedingCoeff=-0.0778;MLEAC=1,1;MLEAF=0.028,0.028;MQ=44.85;MQRankSum=1.66;QD=7.70;ReadPosRankSum=-5.812e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:63,0,43:110:99:.:.:1253,1437,3395,0,1960,2488	16	0	1	3
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1398.21	85	chrX	8466215	.	A	G,*	1398.21	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=2.45;DP=1427;ExcessHet=0.0018;FS=4.360;InbreedingCoeff=0.3447;MLEAC=6,1;MLEAF=0.200,0.033;MQ=41.78;MQRankSum=0.800;QD=4.48;ReadPosRankSum=-5.270e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/2:63,0,43:110:99:1253,1437,3395,0,1960,2488	11	2	1	6
chrX	8466326	8466326	C	0	exonic	VCX3B	.	.	.	.	.	615	751	69	79	8	235	0.13129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8691.77	20	chrX	8466326	.	C	T,*	8691.77	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.010;DP=2396;ExcessHet=0.3672;FS=1.792;InbreedingCoeff=0.1135;MLEAC=2,1;MLEAF=0.056,0.028;MQ=52.92;MQRankSum=-3.640e-01;QD=8.65;ReadPosRankSum=3.18;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,113,0:255:99:0|1:8466326_C_T:3513,0,4865,3940,5204,9144:8466326	15	0	2	3
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,25,0:133:99:0|1:10469688_G_A:260,0,3810,581,3882,4463:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	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	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,25,0:133:99:0|1:10469688_G_A:260,0,3810,581,3882,4463:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	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	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,25:135:99:0|1:10469688_G_A:254,0,3853:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,25:131:99:0|1:10469688_G_A:265,0,3765:10469688	12	0	9	0
chrX	24179589	24179589	T	A	exonic	ZFX	.	nonsynonymous SNV	ZFX:NM_001178084:exon3:c.T465A:p.H155Q	.	.	1	1492	23	6	0	35	0.0115932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.968	D	0.978	D	0.000	D	1.000	D	1.665	L	0.98	T	-0.934	T	0.177	T	0.532	3.479	17.80	0.040	-0.089	0.293	10.739	0.126	.	0.0008	0.00291391	0.0017	0.0001	0.0005	0.0002	0	0.0011	0.0032	0.0088	0.0017205	266	154602	rs149552647	0.0010	0.0010	0.0008	0.0015	0.0081	0.0010	0.0010	0.0075	0.0072	0	0.0011	5.159e-05	0	2.467e-05	0.0068	0.0007	0.0015	0.0081	0.0013	0.0013	0.0013	0.0013	0.0099	0.0011	0.0011	0.0070	0.0060	0	0.0585	0.0018	0	0	0	0.0092	0.0011	0.0013	0.0099	0.15	0.24661	T	0.083	0.41405	T	0.968	0.56581	D	0.978	0.74104	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.045	0.56016	M	0.98	0.42122	T	-1.46	0.35792	N	0.233	0.44090	-0.9337	0.43590	T	0.177	0.52225	T	9	0.006497711	0.00147	T	.	.	.	0.126	0.34673	0.679	0.81691	0.373580267183	0.36973	0.6945515287734886	0.69396	0.894647151709	0.70397	0.66638302803	0.62323	T	0.240036	0.60828	T	-0.515621	0.00466	T	-0.507457	0.21577	T	0.049760384138688	0.05459	T	0.666633	0.43272	T	0.36636198	0.58315	0.27621913	0.53565	0.36636198	0.58315	0.27621913	0.53564	-4.367	0.29106	T	.	.	0.107	0.58233	B	.;.;.;.	.;.;.;.	1.961942	0.24919	16.57	0.98773548947936285	0.46017	0.86994	0.46404	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999851452123392	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	0.040	0.13526	0.296000	0.18839	-0.519000	0.08701	0.665000	0.62972	0.999000	0.42656	0.098000	0.22634	1.000000	0.97212	0.0:0.3801:0.0:0.6199	10.739	0.45344	111	0.95468	.;Transcriptional activator, Zfx / Zfy domain;Transcriptional activator, Zfx / Zfy domain;Transcriptional activator, Zfx / Zfy 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	0.04762	12847.11	34	chrX	24179589	.	T	A	12847.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.29;DP=1594;ExcessHet=0.1072;FS=1.736;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=1.01;QD=14.27;ReadPosRankSum=1.07;SOR=0.571	GT:AD:DP:GQ:PL	0/1:205,208:413:99:5781,0,5584	19	0	2	0
chrX	24363316	24363316	C	G	exonic	SUPT20HL1	.	nonsynonymous SNV	SUPT20HL1:NM_001136234:exon1:c.C634G:p.Q212E,	.	.	433	1063	15	11	0	37	0.0171059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00264901	0.0030	0.0003	0.0009	0.0002	0.0004	0.0028	0.0016	0.0114	0.0028331	438	154602	rs1207579	0.0038	0.0024	0.0030	0.0051	0.0124	0.0036	0.0035	0.0115	0.0111	0.0001	0.0010	0.0041	0	0.0005	0.0061	0.0029	0.0042	0.0124	0.0022	0.0022	0.0022	0.0022	0.0141	0.0020	0.0019	0.0105	0.0093	0.0003	0	0.0016	0.0034	0	0.0005	0.0229	0.0030	0.0039	0.0141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5661.11	113	chrX	24363316	.	C	G	5661.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.056;DP=1779;ExcessHet=0.1072;FS=2.445;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.00;MQRankSum=-4.130e+00;QD=13.20;ReadPosRankSum=1.16;SOR=0.884	GT:AD:DP:GQ:PL	0/1:109,82:191:99:2122,0,3020	19	0	2	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	3/6:0,0,2,27,0,2,26:57:99:3438,2522,2378,2536,2264,2381,1259,1205,1138,1077,2522,2378,2264,1205,2378,1873,1794,1666,823,1794,1640,1185,1059,882,0,1059,859,1001	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	3/6:0,0,2,27,0,2,26:57:99:3438,2522,2378,2536,2264,2381,1259,1205,1138,1077,2522,2378,2264,1205,2378,1873,1794,1666,823,1794,1640,1185,1059,882,0,1059,859,1001	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	3/6:0,0,2,27,0,2,26:57:99:3438,2522,2378,2536,2264,2381,1259,1205,1138,1077,2522,2378,2264,1205,2378,1873,1794,1666,823,1794,1640,1185,1059,882,0,1059,859,1001	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	3/6:0,0,2,27,0,2,26:57:99:3438,2522,2378,2536,2264,2381,1259,1205,1138,1077,2522,2378,2264,1205,2378,1873,1794,1666,823,1794,1640,1185,1059,882,0,1059,859,1001	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	3/6:0,0,2,27,0,2,26:57:99:3438,2522,2378,2536,2264,2381,1259,1205,1138,1077,2522,2378,2264,1205,2378,1873,1794,1666,823,1794,1640,1185,1059,882,0,1059,859,1001	8	0	1	0
chrX	26194125	26194125	T	0	exonic	MAGEB6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2574.15	38	chrX	26194125	.	T	G,*	2574.15	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.38;DP=1363;ExcessHet=0.3300;FS=1.142;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=3.62;ReadPosRankSum=-3.100e-02;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:118,99,0:217:99:.:.:2588,0,2986,2940,3282,6223	18	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/4:16,0,0,0,17,0,0:33:99:607,655,1259,655,1259,1259,655,1259,1259,1259,0,605,605,605,553,655,1259,1259,1259,605,1259,655,1259,1259,1259,605,1259,1259	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/4:16,0,0,0,17,0,0:33:99:607,655,1259,655,1259,1259,655,1259,1259,1259,0,605,605,605,553,655,1259,1259,1259,605,1259,655,1259,1259,1259,605,1259,1259	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/4:16,0,0,0,17,0,0:33:99:607,655,1259,655,1259,1259,655,1259,1259,1259,0,605,605,605,553,655,1259,1259,1259,605,1259,655,1259,1259,1259,605,1259,1259	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/4:16,0,0,0,17,0,0:33:99:607,655,1259,655,1259,1259,655,1259,1259,1259,0,605,605,605,553,655,1259,1259,1259,605,1259,655,1259,1259,1259,605,1259,1259	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	0/4:16,0,0,0,17,0,0:33:99:607,655,1259,655,1259,1259,655,1259,1259,1259,0,605,605,605,553,655,1259,1259,1259,605,1259,655,1259,1259,1259,605,1259,1259	7	4	1	0
chrX	30251025	30251025	G	A	exonic	MAGEB1	.	nonsynonymous SNV	MAGEB1:NM_177404:exon2:c.G532A:p.V178I	.	.	.	.	.	.	.	.	.	.	.	729561	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.509	P	0.2	B	0.428	N	1.000	N	1.705	L	3.42	T	-0.981	T	0.005	T	0.015	1.078	9.400	0.208	-0.104	-0.161	2.933	0.035	.	0.0092	0.00874172	0.0029	0.0272	0.0012	0	0	2.247e-05	0	0.0001	0.0022445	347	154602	rs34171800	0.0008	0.0008	0.0009	0.0006	0.0283	0.0008	0.0007	0.0266	0.0259	0.0283	0.0013	0	3.311e-05	0	0.0002	1.069e-05	0.0016	3.706e-05	0.0072	0.0075	0.0075	0.0067	0.0257	0.0068	0.0067	0.0242	0.0236	0.0257	0	0.0012	0	0	0	0	1.881e-05	0.0033	0	0.237	0.17881	T	0.215	0.26306	T	0.509	0.37289	P	0.2	0.36839	B	0.427947	0.12785	N	0.715399	1	0.08975	N	1.6	0.40776	L	3.42	0.05507	T	-0.56	0.17003	N	0.024	0.00445	-0.9808	0.34817	T	0.005	0.01833	T	10	0.00405249	0.00079	T	.	.	.	0.035	0.08770	.	.	0.165133752707	0.16062	0.12030859070455724	0.11957	0.0621201125594	0.06914	0.330014139414	0.14937	T	0.024919	0.18734	T	-0.950401	0.00000	T	-1.11565	0.00020	T	0.00331324792060086	0.00035	T	0.332567	0.07018	T	0.05552309	0.10801	0.059663787	0.11235	0.05552309	0.10800	0.059663787	0.11234	-4.794	0.34521	T	.	.	0.101	0.17360	B	.;.;.	.;.;.	-0.283243	0.02691	0.349	0.91048213215118345	0.20300	0.04375	0.09951	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.797540674525431	0.24127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.99	0.208	0.14498	-0.155000	0.10101	-2.673000	0.03482	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3446:0.0:0.4574:0.198	2.933	0.05451	738	0.53389	MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2710.98	34	chrX	30251025	.	G	A	2710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=951;ExcessHet=0.0000;FS=2.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=1.82;SOR=0.553	GT:AD:DP:GQ:PL	0/1:129,115:244:99:2725,0,2877	20	0	1	0
chrX	34130801	34130801	G	A	exonic	FAM47A	.	nonsynonymous SNV	FAM47A:NM_203408:exon1:c.C1478T:p.S493L,	.	.	.	.	.	.	.	.	.	.	.	3217046	FAM47A-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	.	.	1.000	N	-0.69	N	2.55	T	-0.966	T	0.007	T	0.036	-0.351	2.343	-1.25	-1.235	-0.722	.	0.007	0.0015378001914	0.0022	0.000794702	0.0023	0	0.0005	0	0.0062	0.0033	0.0071	0	0.0020504	317	154602	rs190486831	0.0011	0.0011	0.0011	0.0012	0.0010	0.0010	0.0010	0.0009	0.0009	3.841e-05	0.0008	0.0018	0	0.0065	0	0.0010	0.0011	1.942e-05	0.0025	0.0026	0.0025	0.0027	0.0039	0.0023	0.0022	0.0034	0.0032	0.0002	0	0.0030	0.0028	0	0.0049	0	0.0039	0	0.0005	0.411	0.10115	T	0.356	0.17166	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	2.55	0.13795	T	-0.46	0.14978	N	0.071	0.04426	-0.9664	0.37934	T	0.007	0.02558	T	8	0.005980909	0.00134	T	0.001538	0.02420	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.13576878025513486	0.13500	0.17354581563	0.19542	0.36725705862	0.20437	T	0.011141	0.09975	T	-0.97305	0.00000	T	-1.16607	0.00005	T	0.00162442425553829	0.00016	T	0.432757	0.21331	T	0.039559294	0.05485	0.08827465	0.20571	0.039559294	0.05485	0.08827465	0.20571	-4.962	0.36425	T	.	.	0.159	0.35247	B	.;.	.;.	-0.159171	0.03305	0.573	0.7881056563717932	0.12462	0.00056	0.00418	N	AEFDBI	.	.	.	.	.	.	.	.	.	3.36339008478036E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	-1.25	0.08920	-0.984000	0.03865	-5.588000	0.01665	-1.846000	0.00576	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	937	0.14592	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3580.98	34	chrX	34130801	.	G	A	3580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=1208;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.58;MQRankSum=-2.908e+00;QD=15.50;ReadPosRankSum=-1.187e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:125,106:231:99:3595,0,4084	20	0	1	0
chrX	35951818	35951818	C	A	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon6:c.C901A:p.Q301K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.038	B	0.000	D	1.000	N	1.245	L	2.67	T	-0.960	T	0.023	T	0.098	-1.114	0.131	3.86	1.155	1.055	8.323	0.044	0.0134148013067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	0.02526	T	0.183	0.35582	T	0.043	0.21573	B	0.038	0.23361	B	0.000065	0.52346	D	0.162299	0.999906	0.19694	N	.	.	.	2.67	0.12473	T	-0.7	0.19933	N	0.102	0.22998	-0.9601	0.39162	T	0.023	0.09696	T	10	0.07822448	0.12441	T	0.013415	0.32792	T	0.044	0.11924	0.443	0.49975	0.128874641272	0.12493	0.08472470586654056	0.08406	0.589975681144	0.54480	.	.	.	0.005199	0.04646	T	-0.473056	0.00814	T	-0.917289	0.00393	T	0.311117082834244	0.25460	T	0.640436	0.25296	T	0.23298515	0.46095	0.36270618	0.61671	0.23298515	0.46095	0.36270618	0.61670	-1.684	0.02187	T	.	.	0.105	0.23041	B	.;.	.;.	1.401735	0.18160	13.58	0.53933118421568171	0.05037	0.26848	0.23110	N	AEFI	.	.	.	.	.	.	.	.	.	3.58859354726822E-4	0.06668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.76	3.86	0.43689	1.114000	0.30811	3.089000	0.36271	0.599000	0.40250	0.699000	0.28616	0.997000	0.33255	0.255000	0.23391	0.2491:0.3682:0.3827:0.0	8.323	0.31303	595	0.68488	.;.	.	.	.	.	.	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	0.02381	1575.98	35	chrX	35951818	.	C	A	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.762;DP=823;ExcessHet=0.0000;FS=4.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-9.090e-01;SOR=1.053	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1590,0,1714	20	0	1	0
chrX	38286942	38286942	A	T	exonic	RPGR	.	nonsynonymous SNV	RPGR:NM_001034853:exon15:c.T2057A:p.M686K,	Cone-rod dystrophy, X-linked, 1, X-linked;Macular degeneration, X-linked atrophic, X-linked recessive;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	YES	86	1431	3	2	0	7	0.00243987	.	.	1266742	X-linked_cone-rod_dystrophy_1|Retinitis_pigmentosa_3|Retinitis_pigmentosa,_X-linked,_and_sinorespiratory_infections,_with_or_without_deafness|Macular_degeneration,_X-linked_atrophic|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0010566,MedGen:C1844776,OMIM:304020,Orphanet:1872|MONDO:MONDO:0010227,MedGen:C1845667,OMIM:300029,Orphanet:791|MedGen:C2749137,OMIM:300455,Orphanet:247522|MONDO:MONDO:0010443,MedGen:C3151784,OMIM:300834,Orphanet:1872|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.93	T	0.009	B	0.003	B	1.000	U	1.000	N	0.55	N	1.32	T	-1.012	T	0.020	T	0.061	-0.045	3.787	-2.15	-0.230	0.222	3.881	0.014	.	0.0080	0.00847682	0.0048	0.0264	0.0011	0.0050	0	0	0.0016	0.0148	0.0041267	638	154602	rs151247357	0.0015	0.0015	0.0013	0.0019	0.0269	0.0015	0.0014	0.0253	0.0246	0.0269	0.0010	0	0.0025	0	0.0029	2.019e-05	0.0031	0.0125	0.0076	0.0080	0.0077	0.0074	0.0259	0.0072	0.0070	0.0243	0.0237	0.0259	0	0.0014	0	0.0054	0	0	6.052e-05	0.0059	0.0115	.	.	.	0.972	0.02471	T	.	.	.	.	.	.	1.000000	0.07966	U	0.379473	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.07	0.08033	N	0.086	0.06322	-1.0119	0.26322	T	0.020	0.08313	T	10	0.002929479	0.00047	T	.	.	.	0.014	0.01968	.	.	0.134007934775	0.12933	0.0316817520545626	0.03117	1.18745578994	0.80184	0.290181100368	0.08949	T	.	.	.	-0.905874	0.00000	T	-1.05373	0.00063	T	0.00810657587251043	0.00096	T	0.263374	0.04265	T	.	.	.	.	.	.	.	.	-0.921	0.00916	T	.	.	0.101	0.17445	B	.;.	.;.	0.598533	0.09668	6.441	0.66763150781348579	0.08154	0.03142	0.08099	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.757361117031744	0.23455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.48	-2.15	0.06705	-1.626000	0.02137	-2.250000	0.03997	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4914:0.1766:0.0:0.332	3.881	0.08584	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2421.98	46	chrX	38286942	.	A	T	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.870e-01;DP=1207;ExcessHet=0.0000;FS=1.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.428e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:73,94:167:99:2436,0,1894	20	0	1	0
chrX	47447773	47447773	G	A	exonic	ZNF41	.	nonsynonymous SNV	ZNF41:NM_001324139:exon4:c.C1739T:p.A580V	.	.	0	1506	10	6	0	22	0.00725115	.	.	348796	History_of_neurodevelopmental_disorder	MedGen:C2711754	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.058	N	0.998	N	0.05	N	2.42	T	-1.089	T	0.050	T	0.311	2.917	15.72	2.79	0.901	-1.294	10.223	0.066	.	0.0015	0.00529801	0.0028	0.0005	0.0011	0	0	0.0026	0	0.0107	0.0028848	446	154602	rs144970008	0.0034	0.0034	0.0033	0.0035	0.0098	0.0033	0.0033	0.0092	0.0089	0.0003	0.0015	0.0045	0	0.0004	0.0041	0.0034	0.0029	0.0098	0.0020	0.0020	0.0020	0.0021	0.0101	0.0018	0.0017	0.0071	0.0061	0.0003	0	0.0012	0.0045	0.0003	0.0010	0.0046	0.0028	0.0040	0.0101	0.049	0.39820	D	0.241	0.24334	T	0.078	0.24389	B	0.04	0.23831	B	0.058270	0.22415	N	0.227466	0.998947	0.22374	N	.	.	.	2.42	0.15376	T	-2.15	0.48687	N	0.058	0.02964	-1.0886	0.05770	T	0.050	0.21143	T	10	0.005091071	0.00110	T	.	.	.	0.066	0.19193	.	.	0.645989072673	0.64305	0.10806213369564742	0.10735	0.545405473843	0.51576	0.407493084669	0.26110	T	.	.	.	-0.680955	0.00047	T	-0.741526	0.03827	T	0.0113411606192594	0.00168	T	0.243176	0.03527	T	.	.	.	.	.	.	.	.	-5.774	0.44347	T	.	.	0.110	0.21125	B	.;.	.;.	2.437819	0.31368	18.72	0.99875122017002838	0.95244	0.11559	0.16714	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.609499426101246	0.21792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.69	2.79	0.31792	-0.373000	0.07550	0.785000	0.21516	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.0:0.1997:0.8003:0.0	10.223	0.42386	382	0.83637	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	0	0	1	0	0.02381	1393.98	33	chrX	47447773	.	G	A	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.40;ReadPosRankSum=1.28;SOR=0.623	GT:AD:DP:GQ:PL	0/1:35,50:85:99:1408,0,885	20	0	1	0
chrX	49067976	49067976	A	G	exonic	CCDC120	.	nonsynonymous SNV	CCDC120:NM_001163321:exon10:c.A1862G:p.H621R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.932	P	0.888	P	0.000	D	0.988	N	1.1	L	.	.	-1.061	T	0.105	T	0.278	1.990	12.61	3.31	1.596	1.002	3.893	0.049	0.0303051339725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.399	0.15059	T	0.029	0.19866	B	0.016	0.17743	B	0.000013	0.62929	D	0.112777	0.98822	0.24434	N	1.895	0.50365	L	.	.	.	-1.03	0.27052	N	0.244	0.45047	-1.0611	0.11483	T	0.105	0.38341	T	9	0.22086889	0.38795	T	0.030305	0.52646	D	0.049	0.13647	0.187	0.09646	0.176862962021	0.17281	0.4714988749202554	0.47068	.	.	0.743005514145	0.73415	T	0.032249	0.22404	T	-0.160688	0.26655	T	-0.468594	0.25667	T	0.835251688957214	0.48945	D	0.744825	0.36507	T	0.1819656	0.39392	0.23199339	0.48348	0.1819656	0.39392	0.23199339	0.48347	-2.775	0.07955	T	.	.	0.108	0.29367	B	.;.;.;.;.	.;.;.;.;.	1.528365	0.19615	14.35	0.99355211441981151	0.60779	0.09484	0.15229	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.860918194974221	0.25224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53	3.31	0.37025	1.344000	0.33547	6.963000	0.57064	0.686000	0.82685	0.795000	0.29657	1.000000	0.68203	0.512000	0.29290	0.5608:0.3123:0.1268:0.0	3.893	0.08629	14	0.98855	.;.;.;.;.	.	.	.	.	.	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	0.02381	503.98	38	chrX	49067976	.	A	G	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.000e+00;DP=738;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.869;SOR=0.420	GT:AD:DP:GQ:PL	0/1:22,20:42:99:518,0,650	20	0	1	0
chrX	49207051	49207051	T	G	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon44:c.A5185C:p.T1729P	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.983	D	0.644	P	0.003	N	1.000	N	0.755	N	-3.93	D	0.222	D	0.815	D	0.449	-0.254	2.779	2.82	0.699	0.035	5.008	0.360	0.232005486142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.20078	T	0.36	0.17166	T	0.128	0.27003	B	0.016	0.17743	B	0.003123	0.00941	N	2.564980	1	0.08975	N	0.895	0.22405	L	-4.01	0.96370	D	0.46	0.04694	N	0.166	0.17553	0.222	0.86275	D	0.815	0.93780	D	10	0.14049453	0.26705	T	0.232005	0.88302	D	0.360	0.68052	0.291	0.25241	0.890462149368	0.88938	0.2544160471330731	0.25355	0.291540691869	0.31561	0.342421293259	0.16801	T	0.080465	0.36369	T	0.0904043	0.63236	D	-0.107917	0.62777	T	0.270854324102402	0.23784	T	0.529347	0.17530	T	0.14863142	0.33923	0.22688407	0.47680	0.14863142	0.33922	0.22688407	0.47679	-2.928	0.09426	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	0.815920	0.11871	8.436	0.75799823728591453	0.11216	0.03966	0.09375	N	AEFI	.	.	.	.	.	.	.	.	.	0.9747355672706	0.29569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.97	2.82	0.32061	-0.139000	0.10338	0.151000	0.15292	0.661000	0.55757	0.000000	0.06391	0.099000	0.22647	0.498000	0.28972	0.0:0.1358:0.0:0.8642	5.008	0.13642	37	0.98026	.;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2385.98	40	chrX	49207051	.	T	G	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=952;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=1.72;SOR=0.652	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2400,0,2277	20	0	1	0
chrX	49591237	49591237	A	T	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.A122T:p.E41V	.	.	721	774	27	0	0	27	0.0171429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.997	D	.	.	1.000	N	2.38	M	2.81	T	-1.067	T	0.065	T	0.214	1.796	11.96	-0.325	-0.132	1.987	3.627	0.038	.	.	.	0.0087	0.0014	0.0006	0	0.0233	0.0120	0.0220	0.0122	0.0006531	17	26028	rs200636160	0.0069	0.0088	0.0094	1.011e-05	0.0080	0.0067	0.0066	0.0078	0.0077	0.0005	0.0006	0.0009	0	0.0121	0.0067	0.0080	0.0058	0.0048	0.0046	0.0057	0.0060	0	0.0084	0.0042	0.0041	0.0072	0.0069	0.0004	0.0265	0.0006	0.0005	0	0.0095	0.0055	0.0079	0.0034	0.0084	0.05	0.39575	D	0.006	0.70582	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.74	0.80084	M	2.81	0.10975	T	-3.9	0.72932	D	0.059	0.03069	-1.0666	0.10177	T	0.065	0.26878	T	9	0.0044246614	0.00090	T	.	.	.	0.038	0.09825	.	.	.	.	0.014046565320850092	0.01361	.	.	.	.	.	0.035837	0.23874	T	-0.709744	0.00032	T	-0.786725	0.02256	T	0.0613656344429564	0.07381	T	0.424758	0.11367	T	0.22350249	0.44973	0.12378093	0.29843	0.22350249	0.44973	0.12378093	0.29842	-4.815	0.34766	T	.	.	0.230	0.46285	B	.	.	2.309269	0.29559	18.16	0.98125996659211223	0.38473	0.02861	0.07626	N	AEFI	.	.	.	.	.	.	.	.	.	1.69540920329682E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	-0.325	0.12072	0.763000	0.26183	-1.950000	0.04446	-0.583000	0.04693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5866:0.4134:0.0:0.0	3.627	0.07658	361	0.84870	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.05	1788.35	39	chrX	49591237	.	A	T	1788.35	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-2.460e+00;DP=1588;ExcessHet=0.1128;FS=1.452;InbreedingCoeff=-0.0672;MLEAC=2;MLEAF=0.050;MQ=37.05;MQRankSum=-2.283e+00;QD=2.14;ReadPosRankSum=1.86;SOR=0.784	GT:AD:DP:GQ:PL	0/1:327,75:402:99:886,0,8178	18	0	2	1
chrX	49603671	49603671	C	T	exonic	GAGE1	.	nonsynonymous SNV	GAGE1:NM_001040663:exon4:c.C209T:p.P70L,	.	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.641	P	0.117	B	.	.	1.000	N	1.96	M	2.94	T	-1.014	T	0.022	T	0.276	0.397	6.154	0.675	0.145	-0.313	3.671	0.041	.	.	0.0010596	0.0019	0	0	0	0	0	0	0.0199	0.0001876	29	154602	rs782181968	8.382e-05	0.0002	0.0001	5.508e-06	0.0005	6.962e-05	6.452e-05	0.0004	0.0003	7.6e-05	2.842e-05	0	6.622e-05	0	0	6.177e-05	0.0001	0.0005	0.0002	0.0003	0.0002	0	0.0010	0.0001	9.126e-05	0.0003	0.0002	0.0001	0	0	0	0	0	0	0.0002	0	0.0010	0.049	0.39820	D	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.94	0.09728	T	-8.04	0.96594	D	0.087	0.06454	-1.0145	0.25497	T	0.022	0.09330	T	9	0.00710994	0.00162	T	.	.	.	0.041	0.10877	0.496	0.58520	0.117506650769	0.11410	0.008057170614826838	0.00770	0.242568304151	0.26767	0.447501063347	0.31602	T	.	.	.	-0.70005	0.00036	T	-0.780456	0.02439	T	0.036862142139097	0.03132	T	0.474753	0.14169	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18787	B	.;.;.	.;.;.	0.543138	0.09120	5.900	0.8122950402233956	0.13583	0.00451	0.02188	N	AEFI	.	.	.	.	.	.	.	.	.	1.22119035807814E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.56	0.675	0.17119	-0.085000	0.11215	-3.026000	0.03128	0.459000	0.21562	0.021000	0.19753	0.000000	0.08366	0.008000	0.08271	0.0:0.7413:0.0:0.2587	3.671	0.07810	361	0.84870	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	239.98	34	chrX	49603671	.	C	T	239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=962;ExcessHet=0.0000;FS=4.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.59;MQRankSum=-1.732e+00;QD=3.20;ReadPosRankSum=0.239;SOR=1.387	GT:AD:DP:GQ:PL	0/1:60,15:75:99:254,0,1475	20	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	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	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:117,617:734:99:18140,0,1208	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/1:511,203:714:99:4042,0,13969	4	0	13	4
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:464,183:647:99:4125,0,14150	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	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	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:394,164:558:99:4388,0,12645	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:102,398:502:99:13569,0,1508	0	1	20	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,101:381:99:0|1:55146247_G_C:3313,0,11265:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:257,95,9:361:99:.:.:3166,0,10796,3706,10475,14435	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:181,168:349:99:5025,0,6538	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,93:356:99:0|1:55146247_G_C:3113,0,10702:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,93,0:356:99:0|1:55146247_G_C:3113,0,10702,3905,10982,14887:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,93,0:356:99:0|1:55146247_G_C:3113,0,10702,3905,10982,14887:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:81,197:278:99:7624,0,2342	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:148,89:237:99:2231,0,5035	5	0	15	1
chrX	57909651	57909651	A	G	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.T770C:p.L257P,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.581	N	1.000	N	-0.695	N	2.81	T	-0.944	T	0.011	T	0.079	-3.668	0.001	0.473	-0.011	0.538	4.723	0.036	.	0.0010	0.0018543	0.0026	0.0079	0.0105	0.0007	0	0.0009	0.0042	0.0011	0.0012742	197	154602	rs200263524	0.0009	0.0011	0.0009	0.0010	0.0113	0.0009	0.0009	0.0084	0.0073	0.0040	0.0066	0.0003	0.0006	0.0001	0.0113	0.0006	0.0020	0.0010	0.0018	0.0020	0.0019	0.0016	0.0049	0.0016	0.0015	0.0038	0.0034	0.0030	0	0.0049	0.0008	0.0003	0.0002	0.0186	0.0007	0.0071	0.0014	0.877	0.02562	T	0.64	0.06970	T	0.0	0.02946	B	0.0	0.01387	B	0.580562	0.05533	N	1.262150	1	0.08975	N	-1.87	0.00254	N	2.81	0.10975	T	1.59	0.00660	N	0.017	0.00226	-0.9440	0.41976	T	0.011	0.03996	T	9	0.0033509433	0.00058	T	.	.	.	0.036	0.09122	.	.	0.321951552304	0.31805	0.5258748924103505	0.52511	1.00905915386	0.74685	0.79422557354	0.81086	T	0.016321	0.13515	T	-0.909297	0.00000	T	-1.07589	0.00043	T	0.00202776234182484	0.00021	T	0.0939906	0.00699	T	0.051167745	0.09357	0.09374219	0.22157	0.051167745	0.09357	0.09374219	0.22157	-2.215	0.04113	T	.	.	0.043	0.00032	B	.	.	0.159345	0.05500	1.966	0.2283293605259448	0.00937	0.04011	0.09439	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99998644620806	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.35	0.473	0.15974	-0.120000	0.10633	0.960000	0.22984	-2.526000	0.00255	0.000000	0.06391	0.508000	0.25241	0.000000	0.00833	0.1161:0.0:0.3318:0.5521	4.723	0.12305	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	439.98	33	chrX	57909651	.	A	G	439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.214e+00;DP=703;ExcessHet=0.0000;FS=2.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-1.486e+00;SOR=0.418	GT:AD:DP:GQ:PL	0/1:30,20:50:99:454,0,884	20	0	1	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/2:3,0,6,0,0,0,0:9:99:241,250,376,0,126,107,250,376,126,376,250,376,126,376,376,250,376,126,376,376,376,250,376,126,376,376,376,376	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/2:3,0,6,0,0,0,0:9:99:241,250,376,0,126,107,250,376,126,376,250,376,126,376,376,250,376,126,376,376,376,250,376,126,376,376,376,376	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/2:3,0,6,0,0,0,0:9:99:241,250,376,0,126,107,250,376,126,376,250,376,126,376,376,250,376,126,376,376,376,250,376,126,376,376,376,376	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/2:3,0,6,0,0,0,0:9:99:241,250,376,0,126,107,250,376,126,376,250,376,126,376,376,250,376,126,376,376,376,250,376,126,376,376,376,376	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/2:3,0,6,0,0,0,0:9:99:241,250,376,0,126,107,250,376,126,376,250,376,126,376,376,250,376,126,376,376,376,250,376,126,376,376,376,376	5	3	1	1
chrX	67546547	67546547	-	GGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGC:p.G473_E474insG	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5,0,0,0,0,0:5:14:.:.:194,14,0,195,15,195,195,15,195,195,195,15,195,195,195,195,15,195,195,195,195,195,15,195,195,195,195,195	11	3	1	0
chrX	67546536	67546547	GGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1390_1401del:p.G470_G473del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5,0,0,0,0,0:5:14:.:.:194,14,0,195,15,195,195,15,195,195,195,15,195,195,195,195,15,195,195,195,195,195,15,195,195,195,195,195	11	3	1	0
chrX	67546542	67546547	GGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1396_1401del:p.G472_G473del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5,0,0,0,0,0:5:14:.:.:194,14,0,195,15,195,195,15,195,195,195,15,195,195,195,195,15,195,195,195,195,195,15,195,195,195,195,195	11	3	1	0
chrX	67546530	67546547	GGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1384_1401del:p.G468_G473del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5,0,0,0,0,0:5:14:.:.:194,14,0,195,15,195,195,15,195,195,195,15,195,195,195,195,15,195,195,195,195,195,15,195,195,195,195,195	11	3	1	0
chrX	67546547	67546547	-	GGCGGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGCGGC:p.G473_E474insGG	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5,0,0,0,0,0:5:14:.:.:194,14,0,195,15,195,195,15,195,195,195,15,195,195,195,195,15,195,195,195,195,195,15,195,195,195,195,195	11	3	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	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	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5,0,0,0,0,0:5:14:.:.:194,14,0,195,15,195,195,15,195,195,195,15,195,195,195,195,15,195,195,195,195,195,15,195,195,195,195,195	11	3	1	0
chrX	69505338	69505338	-	CTG	exonic	FAM155B	.	nonframeshift insertion	FAM155B:NM_015686:exon1:c.56_57insCTG:p.C24_W25insC,	.	.	412	1026	81	1	2	85	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1287.01	86	chrX	69505335	.	TCTG	T,TCTGCTG	1287.01	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=8.000e-03;DP=1050;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.1975;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=2.52;ReadPosRankSum=-1.560e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/2:35,0,26:61:99:961,1067,2536,0,1469,1391	14	0	6	0
chrX	71667915	71667915	G	A	exonic	LOC101059915	.	nonsynonymous SNV	LOC101059915:NM_001323075:exon1:c.G112A:p.G38S,	.	.	557	942	14	9	0	32	0.0167015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00344371	.	.	.	.	.	.	.	.	0.0056862	148	26028	rs187786114	0.0083	0.0079	0.0082	0.0085	0.0172	0.0082	0.0081	0.0133	0.0119	0.0008	0.0042	0.0170	0.0003	0.0092	0.0172	0.0088	0.0084	0.0063	0.0057	0.0058	0.0059	0.0053	0.0082	0.0054	0.0052	0.0076	0.0073	0.0009	0	0.0050	0.0158	0	0.0077	0.0230	0.0082	0.0091	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007861108	0.00179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390761	0.09705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11220	B	.	.	-0.129445	0.03469	0.645	0.86795719449471675	0.16779	0.01530	0.05038	N	AEFDBI	.	.	.	.	.	.	.	.	.	5.22590909710222E-4	0.07225	.	.	.	.	.	.	.	.	.	.	.	.	0.0436289	0.02737	2.46	1.58	0.22557	-0.345000	0.07819	-0.900000	0.06995	-0.328000	0.05798	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1922:0.0:0.8078:0.0	4.635	0.11903	125	0.94984	.	.	.	.	.	.	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	0.04762	4134.11	33	chrX	71667915	.	G	A	4134.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=935;ExcessHet=0.1072;FS=3.542;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.47;ReadPosRankSum=1.66;SOR=0.722	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1739,0,1304	19	0	2	0
chrX	78273427	78273427	A	T	exonic	CYSLTR1	.	nonsynonymous SNV	CYSLTR1:NM_001282186:exon2:c.T320A:p.L107H	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.8	M	-0.77	T	0.250	D	0.584	D	0.923	3.632	18.47	4.53	1.467	9.076	10.906	0.797	0.0841712603947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.199e-06	8.195e-06	5.445e-06	1.377e-05	0.0010	3.86e-06	2.79e-06	0.0003	0.0002	0	0	0	0	0	0.0010	5.939e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998513	0.45021	D	3.67	0.94359	H	-0.77	0.73523	T	-5.23	0.83899	D	0.918	0.92317	0.250	0.86744	D	0.584	0.85079	D	10	0.90692246	0.90057	D	0.084171	0.74270	D	0.797	0.93346	0.613	0.74652	0.982125380434	0.98193	0.6050131440392642	0.60432	0.0455294607063	0.04937	0.819148957729	0.84897	D	0.580678	0.86264	D	0.500964	0.94332	D	0.481824	0.94254	D	0.997956871986389	0.92847	D	0.782022	0.41734	T	0.9675657	0.98030	0.95494896	0.98690	0.9675657	0.98030	0.95494896	0.98691	-12.429	0.86879	D	.	.	0.958	0.87791	P	.;.	.;.	4.629968	0.73600	26.0	0.98465680005594958	0.41791	0.98173	0.80235	D	AEFI	.	.	.	.	.	.	.	.	.	0.99860184146374	0.37289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.53	4.53	0.55009	9.064000	0.93360	10.894000	0.84107	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	10.906	0.46292	388	0.83355	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1481.98	41	chrX	78273427	.	A	T	1481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=896;ExcessHet=0.0000;FS=5.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.369e+00;SOR=1.187	GT:AD:DP:GQ:PL	0/1:72,57:129:99:1496,0,1959	20	0	1	0
chrX	88753631	88753631	G	A	exonic	CPXCR1	.	nonsynonymous SNV	CPXCR1:NM_001184771:exon3:c.G217A:p.E73K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.989	D	0.447	P	0.076	N	1.000	N	0.895	L	1.29	T	-1.079	T	0.060	T	0.132	3.020	16.07	2.71	0.890	0.891	5.997	0.061	0.0124708347186	.	0.0015894	0.0003	0.0001	0	0	0	0	0	0.0028	0.0002781	43	154602	rs554729287	0.0001	0.0001	9.533e-05	0.0002	0.0021	9.907e-05	9.303e-05	0.0017	0.0016	0	0	0	3.312e-05	0	0	4.759e-06	0.0003	0.0021	0.0002	0.0002	9.005e-05	0.0003	0.0071	0.0001	8.695e-05	0.0046	0.0038	0	0	0	0	0	0	0	0	0	0.0071	0.031	0.45039	D	0.243	0.24193	T	0.989	0.62824	D	0.447	0.46003	P	0.076495	0.21160	N	0.340418	1	0.08975	N	1.04	0.26193	L	1.29	0.35775	T	-3.27	0.65512	D	0.042	0.01498	-1.0785	0.07641	T	0.060	0.24945	T	9	0.004975587	0.00107	T	0.012471	0.31071	T	0.061	0.17616	0.1	0.01484	0.154104182512	0.14974	0.13904163184775362	0.13827	0.0410283599376	0.04401	0.430972516537	0.29341	T	0.027713	0.20236	T	-0.686612	0.00044	T	-0.765832	0.02907	T	0.104106921106817	0.12802	T	0.633437	0.24778	T	0.26629636	0.49700	0.26210687	0.51998	0.26629636	0.49699	0.26210687	0.51997	-3.845	0.21478	T	.	.	0.169	0.37633	B	.;.;.	.;.;.	1.950944	0.24781	16.52	0.99727115012658629	0.82477	0.01749	0.05510	N	AEFI	.	.	.	.	.	.	.	.	.	3.88197139368437E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.57	2.71	0.31092	0.870000	0.27662	1.146000	0.24443	0.676000	0.76740	0.014000	0.18986	0.156000	0.23222	0.056000	0.15673	0.1446:0.0:0.8554:0.0	5.997	0.18726	974	0.05496	.;.;.	.	.	.	.	.	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	0.02381	1145.98	51	chrX	88753631	.	G	A	1145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=920;ExcessHet=0.0000;FS=5.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.106;SOR=1.269	GT:AD:DP:GQ:PL	0/1:45,40:85:99:1160,0,1200	20	0	1	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.401	B	0.000	D	1.000	D	1.27	L	2.32	T	-1.121	T	0.036	T	0.413	0.787	8.148	3.28	1.107	9.240	9.143	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	0.175	871.64	124	chrX	91436668	.	G	A	871.64	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.827e+00;DP=2002;ExcessHet=2.5830;FS=160.143;InbreedingCoeff=-0.2175;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=1.19;SOR=11.189	GT:AD:DP:GQ:PL	0/1:87,30:117:89:89,0,1633	13	0	7	1
chrX	101898174	101898174	C	T	exonic	ZMAT1	.	nonsynonymous SNV	ZMAT1:NM_001011657:exon4:c.G275A:p.G92E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.995	D	0.873	P	0.464	N	0.963	D	2.005	M	2.38	T	-1.088	T	0.081	T	0.406	2.732	15.10	3.74	1.097	1.453	7.659	0.111	0.00722388377296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.009	0.66756	D	.	.	.	.	.	.	0.463987	0.12357	N	0.699661	0.962758	0.38309	D	.	.	.	2.38	0.15843	T	-2.95	0.61580	D	0.268	0.30347	-1.0881	0.05856	T	0.081	0.32090	T	10	0.15611902	0.29409	T	0.007224	0.19143	T	0.111	0.31313	0.328	0.31196	0.0401082797425	0.02173	0.04282126577124279	0.04227	0.312588091171	0.33560	0.352336704731	0.18266	T	.	.	.	-0.245368	0.14673	T	-0.590231	0.13646	T	0.93881756067276	0.60974	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.46677	B	.;.	.;.	1.745482	0.22210	15.53	0.99138814745612602	0.53464	0.25062	0.22585	N	AEFGI	.	.	.	.	.	.	.	.	.	0.0181043727932258	0.13022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6	3.74	0.42108	1.637000	0.36769	0.325000	0.17225	0.591000	0.32079	0.067000	0.21986	0.000000	0.08366	0.941000	0.48210	0.0:0.8828:0.0:0.1172	7.659	0.27561	31	0.98186	.;.	.	.	.	.	.	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	0.02381	2218.98	40	chrX	101898174	.	C	T	2218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=845;ExcessHet=0.0000;FS=3.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=0.181;SOR=1.059	GT:AD:DP:GQ:PL	0/1:64,80:144:99:2233,0,1680	20	0	1	0
chrX	106034293	106034293	T	A	exonic	SERPINA7	.	nonsynonymous SNV	SERPINA7:NM_000354:exon4:c.A986T:p.Y329F,	.	YES	2	1517	3	0	0	3	0.000987817	.	.	24831	Thyroxine-binding_globulin,_Chicago	.	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.818	N	-3.675	N	-0.27	T	-0.936	T	0.028	T	0.728	-1.289	0.040	3.66	0.624	5.361	7.975	0.382	0.0566059415568	0.0020	0.000529801	0.0010	0.0006	0.0005	0	0	0.0017	0	0	0.0010737	166	154602	rs61754490	0.0019	0.0019	0.0020	0.0018	0.0024	0.0019	0.0018	0.0023	0.0023	0.0004	0.0006	5.168e-05	0	9.871e-05	0.0002	0.0024	0.0016	7.4e-05	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0019	0.0018	0.0004	0	0.0020	0	0	0.0002	0	0.0023	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000101	0.51296	N	0.083097	0.182364	0.28923	A	-3.385	0.00004	N	-0.27	0.67367	T	2.23	0.00314	N	0.688	0.69387	-0.9365	0.43164	T	0.028	0.12147	T	10	0.08913022	0.15412	T	0.056606	0.66665	D	0.382	0.69946	.	.	0.445410361449	0.44164	0.43119119475649687	0.43036	0.0245168798745	0.02488	0.40752440691	0.26114	T	0.056876	0.30409	T	-0.278761	0.10799	T	-0.177501	0.56754	T	0.00294534273393923	0.00031	T	0.70313	0.31322	T	0.19905743	0.41831	0.084098995	0.19323	0.17466637	0.38283	0.07715687	0.17160	1.57	0.00077	T	0.021584080046921958	0.00009	0.058	0.00705	B	.;.	.;.	1.080636	0.14636	11.19	0.12283973687021817	0.00209	0.25158	0.22614	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999961928858019	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.84	3.66	0.41111	5.511000	0.66742	8.442000	0.77197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.7909:0.0:0.0:0.2091	7.975	0.29312	20	0.98525	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	839.98	34	chrX	106034293	.	T	A	839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=744;ExcessHet=0.0000;FS=3.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=0.484;SOR=0.511	GT:AD:DP:GQ:PL	0/1:38,33:71:99:854,0,997	20	0	1	0
chrX	115191798	115191798	C	T	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.C2357T:p.S786L,	.	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.983	D	0.602	P	.	.	1.000	N	0	N	3.46	T	-0.950	T	0.013	T	0.107	0.520	6.818	0.92	0.179	0.012	7.633	0.084	0.00397118518731	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166626246	1.631e-05	2.096e-05	1.858e-05	1.166e-05	8.094e-05	9.93e-06	8.12e-06	2.687e-05	1.571e-05	4.051e-05	0	0	0	2.679e-05	0	9.852e-06	6.879e-05	8.094e-05	0.0004	0.0024	0.0006	0	0.0016	0.0003	0.0003	0.0006	0.0005	0.0009	0	0.0002	0	0.0016	0.0005	0.0061	0.0002	0.0007	0.0004	0.008	0.58626	D	0.017	0.60337	D	0.983	0.60381	D	0.602	0.50862	P	.	.	.	.	1	0.81001	D	0	0.06538	N	3.46	0.05249	T	-0.63	0.18459	N	0.183	0.19861	-0.9495	0.41058	T	0.013	0.05321	T	9	0.110036016	0.20551	T	0.003971	0.09400	T	0.084	0.24469	0.31	0.28289	0.0297737177859	0.01360	0.07794321502922227	0.07730	.	.	0.460650205612	0.33400	T	0.004352	0.03758	T	-0.489574	0.00653	T	-0.941016	0.00291	T	0.0410655035760751	0.03883	T	0.477752	0.14377	T	0.064649045	0.13737	0.10606479	0.25509	0.064649045	0.13736	0.10606479	0.25508	-5.72	0.43871	T	.	.	0.487	0.63970	A	.	.	1.652137	0.21074	15.04	0.80217472710216153	0.13099	0.01195	0.04267	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0671029185437516	0.15415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	0.92	0.18524	-0.080000	0.11303	1.696000	0.28101	0.310000	0.19122	0.000000	0.06391	0.005000	0.19230	0.004000	0.06068	0.0:0.9999:0.0:1.0E-4	7.633	0.27416	937	0.14592	.	.	.	.	.	.	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	1	0	0	0	0.02381	3490.98	222	chrX	115191798	.	C	T	3490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=4272;ExcessHet=0.0000;FS=7.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.251;SOR=0.863	GT:AD:DP:GQ:PL	0/1:137,135:272:99:3505,0,3432	20	0	1	0
chrX	141905984	141905984	C	G	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.C580G:p.P194A,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.012	B	0.0	B	.	.	1.000	N	0	N	4.47	T	-0.903	T	0.004	T	0.092	-2.118	0.006	.	-2.490	-3.104	0.132	0.160	0.00949479768985	.	.	0.0030	0.0004	0.0006	0.0014	0.0016	0.0047	0	0.0008	0.000461	12	26028	rs78963072	0.0023	0.0025	0.0027	0.0015	0.0032	0.0022	0.0022	0.0019	0.0016	0.0003	0.0005	0.0411	0.0011	0.0014	0.0032	0.0017	0.0041	0.0006	0.0022	0.0025	0.0025	0.0015	0.0020	0.0020	0.0019	0.0017	0.0016	0.0005	0	0.0010	0.0394	0.0011	0.0010	0	0.0020	0.0007	0.0008	0.0	0.91255	D	0.058	0.46182	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.20721	N	-0.255	0.03828	N	4.47	0.02084	T	-0.66	0.19085	N	0.042	0.01498	-0.9029	0.47684	T	0.004	0.01125	T	8	0.0047519505	0.00100	T	0.009495	0.24855	T	0.160	0.41473	.	.	0.0482279557977	0.04254	0.00836871272749026	0.00800	.	.	0.453550577164	0.32429	T	0.004747	0.04164	T	-0.823433	0.00005	T	-0.959885	0.00233	T	0.00732511625089024	0.00084	T	0.281272	0.04917	T	0.033229418	0.03500	0.095803946	0.22736	0.033229418	0.03499	0.095803946	0.22735	-4.336	0.28678	T	.	.	0.183	0.39714	B	.	.	0.253917	0.06330	2.790	0.43679918256768041	0.03305	0.00985	0.03747	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.00208082475822854	0.09135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	.	.	-2.719000	0.00205	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.2528:0.2473:0.2524:0.2474	0.132	0.00069	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	11182.66	622	chrX	141905984	.	C	G	11182.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.53;DP=5419;ExcessHet=0.0000;FS=2.690;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=59.70;MQRankSum=-8.200e-02;QD=20.63;ReadPosRankSum=1.52;SOR=0.646	GT:AD:DP:GQ:PL	1/1:1,220:221:99:7139,623,0	19	1	1	0
chrX	141906066	141906066	C	0	exonic	MAGEC1	.	.	.	.	.	608	414	468	12	20	512	0.372727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7278.24	807	chrX	141906066	.	C	G,*	7278.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=57.13;QD=24.51;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,166,0:166:99:1|1:141906066_C_G:7286,500,0,7286,500,7286:141906066	3	1	0	16
chrX	141906073	141906073	T	0	exonic	MAGEC1	.	.	.	.	.	607	414	470	11	20	512	0.372727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7011.24	724	chrX	141906073	.	T	A,*	7011.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5526;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.96;QD=24.34;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,157,0:157:99:1|1:141906066_C_G:7019,473,0,7019,473,7019:141906066	3	1	0	16
chrX	141906078	141906078	T	0	exonic	MAGEC1	.	.	.	.	.	603	425	463	11	20	505	0.363296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6827.24	689	chrX	141906078	.	T	C,*	6827.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5352;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.86;QD=24.12;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,152,0:152:99:1|1:141906066_C_G:6835,458,0,6835,458,6835:141906066	3	1	0	16
chrX	141906091	141906091	C	0	exonic	MAGEC1	.	.	.	.	.	597	448	440	15	22	492	0.34407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5797.24	597	chrX	141906091	.	C	A,*	5797.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=4869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.29;QD=22.30;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,129,0:129:99:1|1:141906066_C_G:5805,388,0,5805,388,5805:141906066	3	1	0	16
chrX	141906119	141906119	C	0	exonic	MAGEC1	.	.	.	.	.	23	89	91	5	18	119	0.362007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4222.24	400	chrX	141906119	.	C	T,*	4222.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.80;QD=18.77;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,94,0:94:99:1|1:141906066_C_G:4230,283,0,4230,283,4230:141906066	3	1	0	16
chrX	141906127	141906127	C	0	exonic	MAGEC1	.	.	.	.	.	681	410	377	17	37	448	0.333875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3683.54	337	chrX	141906127	.	C	G,*	3683.54	.	AC=2,2;AF=0.200,0.200;AN=10;DP=4204;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3959;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.56;QD=17.29;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,82,0:82:99:1|1:141906066_C_G:3690,247,0,3690,247,3690:141906066	3	1	0	16
chrX	141906159	141906159	T	0	exonic	MAGEC1	.	.	.	.	.	722	481	189	69	61	388	0.253685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1790.08	154	chrX	141906159	.	T	C,*	1790.08	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3374;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3741;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.35;QD=9.04;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,67,0:67:99:1|1:141906066_C_G:1797,151,0,1797,151,1797:141906066	3	1	0	16
chrX	141906161	141906161	T	0	exonic	MAGEC1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1430.08	142	chrX	141906161	.	T	C,*	1430.08	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3329;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3741;MLEAC=5,5;MLEAF=0.500,0.500;MQ=53.70;QD=7.53;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,59,0:59:99:1|1:141906066_C_G:1437,127,0,1437,127,1437:141906066	3	1	0	16
chrX	141906299	141906299	-	CCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.895_896insCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG:p.S308_S309insCSFSSTLLSIFQSSPERTQSTFEGFAQSPLQIPVS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.339e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1249.62	210	chrX	141906299	.	C	CCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG,*	1249.62	.	AC=1,2;AF=0.033,0.067;AN=30;DP=3370;ExcessHet=0.0000;FS=6.080;InbreedingCoeff=0.4852;MLEAC=1,3;MLEAF=0.033,0.100;MQ=57.92;MQRankSum=-5.392e+00;QD=4.18;ReadPosRankSum=-1.121e+01;SOR=1.004	GT:AD:DP:GQ:PL	2/2:0,0,89:89:99:2884,2884,2884,259,259,0	13	0	1	6
chrX	141906299	141906299	C	0	exonic	MAGEC1	.	.	.	.	.	489	914	50	25	44	144	0.0518672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1249.62	210	chrX	141906299	.	C	CCCCAGTCTCCTCTCCAGATTCCTGTGAGCTGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTG,*	1249.62	.	AC=1,2;AF=0.033,0.067;AN=30;DP=3370;ExcessHet=0.0000;FS=6.080;InbreedingCoeff=0.4852;MLEAC=1,3;MLEAF=0.033,0.100;MQ=57.92;MQRankSum=-5.392e+00;QD=4.18;ReadPosRankSum=-1.121e+01;SOR=1.004	GT:AD:DP:GQ:PL	2/2:0,0,89:89:99:2884,2884,2884,259,259,0	13	0	1	6
chrX	141906310	141906414	TCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.906_1010del:p.V307_P341del,	.	.	433	998	16	7	68	98	0.0148075	.	.	2824132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0009	0.0013	0.0005	0.0036	0.0028	0.0018	0.0015	.	.	.	.	0.0002	0.0005	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	4.076e-05	0.0003	0	0.0001	0.0002	0	0.0002	0.0001	0.0006	0.0003	0.0006	0.0004	0	0.0005	0.0002	0.0001	0.0003	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	737.47	225	chrX	141906309	.	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	C,*	737.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.632;DP=3521;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=0.6316;MLEAC=1,2;MLEAF=0.025,0.050;MQ=57.72;MQRankSum=-8.562e+00;QD=1.76;ReadPosRankSum=-3.515e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,89:89:99:.:.:2884,2884,2884,259,259,0	18	0	1	1
chrX	141906309	141906414	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	0	exonic	MAGEC1	.	.	.	.	.	433	998	16	7	68	98	0.0148075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	737.47	225	chrX	141906309	.	CTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT	C,*	737.47	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.632;DP=3521;ExcessHet=0.0000;FS=5.166;InbreedingCoeff=0.6316;MLEAC=1,2;MLEAF=0.025,0.050;MQ=57.72;MQRankSum=-8.562e+00;QD=1.76;ReadPosRankSum=-3.515e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,89:89:99:.:.:2884,2884,2884,259,259,0	18	0	1	1
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,89:89:99:.:.:2884,2884,2884,259,259,0	4	11	2	2