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	NSWES956-F	WT	HH	HZ	NC
chr1	1641732	1641732	-	TCC	exonic	CDK11B	.	nonframeshift insertion	CDK11B:NM_033487:exon7:c.170_171insGGA:p.E67_T68insE	.	.	152	1341	7	2	20	31	0.00408466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	988.17	21	chr1	1641723	.	TTCCTCCTCC	T,TTCCTCCTCCTCC	988.17	.	AC=2,2;AF=0.050,0.050;AN=40;DP=638;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=1,2;MLEAF=0.025,0.050;MQ=36.74;QD=32.97;SOR=1.708	GT:AD:DP:GQ:PL	1/1:0,2,0:2:6:90,6,0,90,6,90	18	1	0	1
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	0/1:47,38,0:88:99:1419,0,1859,1574,1980,3592	10	3	7	0
chr1	1968645	1968645	G	A	exonic	CFAP74	.	nonsynonymous SNV	CFAP74:NM_001304360:exon11:c.C1235T:p.T412M,	.	.	430	1089	2	1	0	4	0.00183318	.	.	3304235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.029	B	0.004	B	0.000	N	1.000	N	0	N	.	.	-1.036	T	0.043	T	0.12	-0.156	3.238	-5.78	-2.280	-2.169	6.070	0.044	.	0.0002	0.000399361	0.0001	0.0001	0.0003	0.0005	0	4.507e-05	0.0011	0.0002	0.0001164	18	154602	rs150108692	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0	0.0003	0	0.0003	0	0.0002	0.0001	6.626e-05	0.0001	7.413e-05	7.239e-05	6.595e-05	8.269e-05	0.0004	4.07e-05	3.2e-05	7.173e-05	2.985e-05	2.455e-05	0	0.0002	0	0.0004	0	0	7.549e-05	0	0	.	.	.	0.13	0.34716	T	0.003	0.11197	B	0.002	0.06944	B	0.000001	0.00162	N	14.379500	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.077	0.05162	-1.0357	0.18637	T	0.043	0.18701	T	9	0.013397962	0.00284	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.1429724359249603	0.14220	.	.	0.268919408321	0.06001	T	0.031287	0.21975	T	-0.532159	0.00373	T	-0.691667	0.06293	T	0.00932824704796076	0.00119	T	0.394461	0.09873	T	0.06161033	0.12776	0.05615879	0.09985	0.06161033	0.12776	0.05615879	0.09985	-4.942	0.36204	T	.	.	0.086	0.10787	B	.	.	-0.175655	0.03218	0.536	0.69959841728056538	0.09140	0.00460	0.02218	N	AEFBI	.	.	.	-1.80631561502808	0.00530	0.02281249	-1.9112502777261	0.00465	0.02058856	0.997642504964039	0.35855	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	0.046323	0.05263	2.89	-5.78	0.02169	-2.426000	0.01104	-4.887000	0.01941	-2.618000	0.00231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2922:0.2422:0.4656:0.0	6.070	0.19109	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	1	0	0	0	0.02381	1828.98	33	chr1	1968645	.	G	A	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=966;ExcessHet=0.0000;FS=1.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=-4.530e-01;SOR=0.837	GT:AD:DP:GQ:PL	0/1:78,77:155:99:1843,0,2914	20	0	1	0
chr1	3514604	3514604	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon7:c.C799T:p.R267C,	.	.	417	1091	14	0	0	14	0.00637523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.634	P	0.024	N	0.831	D	2.85	M	-2.3	D	0.703	D	0.701	D	0.398	2.744	15.14	4.47	2.299	4.906	12.075	0.487	.	0.0010	0.00239617	0.0053	0.0003	0.0017	0	0	0.0026	0.0068	0.0173	0.002044	316	154602	rs199566066	0.0013	0.0013	0.0009	0.0018	0.0142	0.0013	0.0012	0.0135	0.0132	3.038e-05	0.0005	0.0116	0	4.289e-05	0.0053	0.0002	0.0021	0.0142	0.0011	0.0011	0.0009	0.0014	0.0161	0.0010	0.0009	0.0133	0.0122	4.81e-05	0.0088	0.0002	0.0124	0	9.411e-05	0.0068	0.0005	0.0014	0.0161	0.013	0.54683	D	0.083	0.48080	T	0.949	0.70673	P	0.59	0.51870	P	0.024387	0.26271	N	0.414587	0.83058	0.34912	D	3.29	0.90338	M	-2.3	0.87671	D	-4.08	0.74742	D	0.418	0.45803	0.703	0.93211	D	0.701	0.89716	D	10	0.01910013	0.00422	T	.	.	.	0.487	0.77528	.	.	0.937697961788	0.93705	0.5896142355920483	0.58891	0.359294339257	0.37621	0.262986660004	0.05250	T	0.120653	0.44305	T	-0.213507	0.18887	T	-0.0677885	0.65783	T	0.138532333395878	0.16148	T	0.919808	0.70989	D	0.15104125	0.34356	0.11419028	0.27564	0.15104125	0.34356	0.11419028	0.27563	-10.361	0.76045	D	.	.	0.215	0.48572	B	.;.	.;.	4.327247	0.66282	24.9	0.9990352288288169	0.97502	0.92647	0.56205	D	AEFDBI	0.682224	0.64531	D	0.457215791684406	0.64613	4.719908	0.366072371825427	0.59483	4.126401	0.999909727444102	0.45458	0.706298	0.61202	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	6.289000	0.72700	5.525000	0.48832	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.043000	0.14563	0.0:0.0:0.8278:0.1722	12.075	0.52934	982	0.03397	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	633.98	38	chr1	3514604	.	G	A	633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.219e+00;DP=756;ExcessHet=0.0000;FS=8.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.88;SOR=0.966	GT:AD:DP:GQ:PL	0/1:19,28:47:99:648,0,421	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	0/1:27,7:34:68:.:.:68,0,742	7	0	6	8
chr1	6448885	6448885	C	T	exonic	ESPN	.	nonsynonymous SNV	ESPN:NM_031475:exon8:c.C1709T:p.P570L,	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	.	5	1468	48	1	0	50	0.0167448	.	.	439091	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.682	N	1.000	D	0	N	-0.11	T	-0.976	T	0.084	T	0.061	2.307	13.67	0.938	0.144	-0.173	6.157	0.036	.	.	0.0103834	0.0717	0.0556	0.0556	0.05	.	0.05	0.0556	0.0770	0.0021539	333	154602	rs527968078	0.0057	0.0055	0.0052	0.0062	0.0271	0.0056	0.0055	0.0254	0.0247	0.0016	0.0153	0.0166	0.0271	0.0096	0.0206	0.0040	0.0065	0.0214	0.0060	0.0061	0.0055	0.0065	0.0174	0.0057	0.0056	0.0144	0.0133	0.0010	0	0.0122	0.0150	0.0150	0.0118	0.0240	0.0048	0.0071	0.0174	0.002	0.72154	D	0.003	0.76473	D	0.0	0.02946	B	0.001	0.04355	B	0.682431	0.10247	N	0.819423	0.866195	0.81001	D	0	0.06538	N	-0.11	0.64445	T	-0.31	0.12099	N	0.023	0.00407	-0.9755	0.36015	T	0.084	0.32843	T	10	0.002673477	0.00041	T	.	.	.	0.036	0.09122	.	.	.	.	0.1366551528883657	0.13589	0.14692160482	0.16579	0.814818620682	0.84232	D	0.050058	0.28486	T	-0.584215	0.00182	T	-0.592364	0.13461	T	0.0235663459691323	0.01091	T	0.731327	0.34690	T	0.09153358	0.21449	0.13736086	0.32835	0.08325275	0.19218	0.10993142	0.26499	-4.304	0.28232	T	.	.	0.080	0.22171	B	.;.;.;.	.;.;.;.	2.423806	0.31168	18.66	0.98997328779848048	0.50065	0.01974	0.05975	N	AEFDBHCIJ	0.081452	0.16482	N	-0.986560555147902	0.08889	0.4185977	-0.86336138322725	0.12966	0.6700624	0.999999999374865	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.0	0.938	0.18625	-0.552000	0.06110	2.361000	0.32372	0.446000	0.21189	0.000000	0.06391	0.937000	0.28687	0.512000	0.29290	0.0:0.5768:0.1312:0.292	6.157	0.19558	833	0.38804	.;.;.;.	.	.	.	.	.	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	0.02381	611.98	33	chr1	6448885	.	C	T	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.930e-01;DP=668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.10;ReadPosRankSum=-7.700e-02;SOR=0.639	GT:AD:DP:GQ:PL	0/1:7,22:29:99:626,0,168	20	0	1	0
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	0/1:27,7:34:41:.:.:41,0,473	8	0	10	3
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,33:193:99:.:.:1294,0,5347	8	0	13	0
chr1	12084503	12084503	C	A	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001243:exon2:c.C103A:p.H35N,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.009	B	0.008	B	0.107	N	1.000	N	0.695	N	-2.81	D	-0.565	T	0.518	D	0.036	0.888	8.604	1.22	0.278	-0.376	4.036	0.128	0.192930324736	.	.	3.302e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs761337975	5.473e-06	5.472e-06	5.445e-06	5.5e-06	6.956e-05	2.35e-06	1.7e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	0	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.349	0.17531	T	0.009	0.15093	B	0.008	0.13708	B	0.107179	0.02603	N	1.843320	1	0.08975	N	1.04	0.26193	L	-2.81	0.91134	D	-1.32	0.32991	N	0.235	0.26475	-0.5645	0.66231	T	0.518	0.81985	D	10	0.18933916	0.34530	T	0.19293	0.86274	D	0.128	0.35103	0.459	0.52590	0.223474106383	0.21959	0.6061811618693386	0.60549	0.222960362883	0.24822	0.334933638573	0.15678	T	0.226162	0.59110	T	-0.326548	0.06376	T	-0.470171	0.25497	T	0.0219841655343771	0.00907	T	0.40286	0.10299	T	0.05976287	0.12184	0.057518553	0.10469	0.05976287	0.12183	0.057518553	0.10469	-4.806	0.34661	T	.	.	0.131	0.28086	B	.	.	0.134471	0.05294	1.789	0.74700679315220997	0.10794	0.05608	0.11514	N	AEFBCI	0.047428	0.07985	N	-1.01168833822341	0.08361	0.3917204	-1.04055810461836	0.08904	0.4401855	0.9996578642894	0.41424	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.21	1.22	0.20300	-0.374000	0.07541	-0.302000	0.10107	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.1882:0.622:0.0:0.1898	4.036	0.09214	759	0.50631	TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 8, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1861.98	40	chr1	12084503	.	C	A	1861.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=898;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.655;SOR=0.873	GT:AD:DP:GQ:PL	0/1:84,83:167:99:1876,0,1881	20	0	1	0
chr1	12277831	12277831	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.G4243A:p.D1415N	.	.	429	1091	2	0	0	2	0.000915751	.	.	680085	Fetal_akinesia_deformation_sequence_1|Arthrogryposis_multiplex_congenita|VPS13D-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.999	D	0.915	D	0.000	D	1.000	D	1.04	L	0.57	T	-0.822	T	0.213	T	0.092	4.032	20.7	6.17	2.941	7.548	20.879	0.147	.	0.0005	0.00259585	0.0027	0.0005	0.0062	0.0153	0.0036	0.0012	0.0022	0.0009	0.0024062	372	154602	rs79282181	0.0010	0.0010	0.0010	0.0010	0.0112	0.0009	0.0009	0.0104	0.0100	0.0003	0.0063	0.0021	0.0112	0.0042	0.0002	0.0002	0.0016	0.0007	0.0013	0.0013	0.0013	0.0013	0.0093	0.0011	0.0011	0.0072	0.0064	0.0004	0	0.0029	0.0020	0.0093	0.0029	0	0.0005	0.0014	0.0015	.	.	.	0.149	0.32568	T	0.999	0.77913	D	0.915	0.65091	D	0.000000	0.84330	D	0.000000	0.999792	0.49177	D	1.995	0.54099	M	.	.	.	.	.	.	0.656	0.66615	-0.8221	0.53802	T	0.213	0.57374	T	10	0.0048133433	0.00102	T	.	.	.	.	.	.	.	0.110392049598	0.10638	0.4648944658151008	0.46408	.	.	0.617404937744	0.55362	T	0.156316	0.49844	T	-0.48209	0.00719	T	-0.453589	0.27301	T	0.0183065443217658	0.00549	T	0.904909	0.66542	D	0.2649638	0.49565	0.24832514	0.50381	0.28599584	0.51618	0.26766604	0.52625	-5.582	0.42628	T	0.6445270800136347	0.71574	0.101	0.17445	B	.;.	.;.	4.575054	0.72214	25.8	0.99848089452417865	0.92750	0.99235	0.93223	D	AEFDBI	0.824680	0.74453	D	0.478405898110331	0.65830	4.872184	0.610806420364523	0.75723	6.361292	0.999999554772949	0.74766	0.566229	0.32551	0	0.546412	0.12157	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.673000	0.82956	10.025000	0.83150	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.879	0.99870	688	0.59122	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1827.98	40	chr1	12277831	.	G	A	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.940e-01;DP=829;ExcessHet=0.0000;FS=0.621;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.812e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1842,0,1947	20	0	1	0
chr1	13178828	13178828	G	A	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon3:c.G1133A:p.R378H	.	.	515	1006	1	0	0	1	0.000496771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219628792	6.092e-05	6.471e-05	4.961e-05	7.223e-05	0.0005	4.994e-05	4.568e-05	0.0003	0.0003	0.0002	0	0	0.0003	0	0.0005	1.503e-05	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	9.77e-05	0.0005	0.0003	0.0003	0	0	0	0.0011	0	0	6.562e-05	0	0.0013	.	.	.	0.399	0.15059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.08434591	0.14127	T	.	.	.	.	.	.	.	.	.	0.21862466034776323	0.21778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.07793	B	.	.	0.817322	0.11882	8.449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.139000	0.10338	-20.000000	0.00162	0.337000	0.19705	0.009000	0.18154	0.000000	0.08366	0.135000	0.19760	.	.	.	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	0	0	0	0	0.02632	1193.71	58	chr1	13178828	.	G	A	1193.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.54;DP=1140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=31.45;MQRankSum=-1.656e+00;QD=18.09;ReadPosRankSum=1.00;SOR=1.376	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1207,0,590	18	0	1	2
chr1	13319490	13319490	C	G	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.C412G:p.Q138E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.008	N	1.000	N	.	.	3.82	T	-0.970	T	0.005	T	0.091	-2.791	0	-1.66	-0.487	-0.661	3.52	0.008	0.144925474874	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1456214081	1.643e-05	4.173e-05	1.09e-05	2.201e-05	3.479e-05	1.111e-05	9.34e-06	1.012e-05	8.35e-06	2.988e-05	0	0	2.519e-05	0	0	1.62e-05	1.657e-05	3.479e-05	1.97e-05	2.625e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.008413	0.01205	N	3.055790	1	0.08975	N	.	.	.	3.82	0.03728	T	-0.42	0.14193	N	0.074	0.04790	-0.9714	0.36904	T	0.004	0.01295	T	8	0.045889676	0.03712	T	0.001371	0.01986	T	.	.	.	.	0.0297737177859	0.01360	0.06828703451872287	0.06766	.	.	0.515325844288	0.40969	T	.	.	.	-0.407378	0.02069	T	-0.822947	0.01394	T	0.0257060084388537	0.01366	T	0.0874912	0.00644	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00876	B	.	.	-0.839039	0.01033	0.043	0.43602524064403586	0.03294	0.00209	0.01192	N	AEFI	0.024689	0.01569	N	-1.5513993318392	0.01526	0.0666591	-1.67768329631319	0.01239	0.05584373	3.4844950414554E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.907	-1.81	0.07456	-0.769000	0.04816	-4.021000	0.02389	-0.519000	0.04982	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4161:0.3163:0.2676:0.0	2.336	0.03989	.	.	.	.	.	.	.	.	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	4149.98	40	chr1	13319490	.	C	G	4149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.557;DP=2842;ExcessHet=0.0000;FS=5.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.99;MQRankSum=-6.969e+00;QD=5.12;ReadPosRankSum=-2.835e+00;SOR=0.375	GT:AD:DP:GQ:PL	0/1:605,206:811:99:4164,0,16584	20	0	1	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.998	D	0.852	P	0.000	D	0.979	N	1.955	M	2.29	T	-1.078	T	0.076	T	0.404	2.415	14.03	4.1	0.866	2.104	9.034	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	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	0.1071	64.26	74	chr1	15559540	.	G	C	64.26	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.176e+00;DP=2293;ExcessHet=0.3300;FS=213.033;InbreedingCoeff=-0.1831;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=0.759;SOR=10.704	GT:AD:DP:GQ:PL	0/1:105,33:138:13:13,0,2266	11	0	3	7
chr1	16015599	16015599	C	T	exonic	HSPB7	.	nonsynonymous SNV	HSPB7:NM_001349683:exon3:c.G506A:p.R169Q	.	.	.	.	.	.	.	.	.	.	.	3270482	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	2.14	M	-3.04	D	0.966	D	0.907	D	0.725	5.374	34	4.97	2.296	7.334	14.955	0.750	0.453018763849	.	.	1.667e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs752889799	2.668e-05	2.668e-05	2.995e-05	2.338e-05	0.0001	1.997e-05	1.754e-05	3.348e-05	1.981e-05	2.987e-05	0	0	0.0001	0	0	2.608e-05	6.624e-05	1.159e-05	2.629e-05	2.627e-05	2.569e-05	2.691e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.017	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.98	0.53716	M	-3.14	0.95387	D	-0.59	0.22508	N	0.528	0.67045	0.966	0.96640	D	0.907	0.96906	D	10	0.7292541	0.74184	D	0.453019	0.94377	D	0.750	0.91413	0.54	0.65161	0.992674725165	0.99259	0.4882626856772676	0.48746	1.23048034304	0.81318	0.698452353477	0.66920	T	0.194581	0.55040	T	0.103418	0.64659	D	0.202925	0.83287	D	0.859564185142517	0.51011	D	0.955704	0.85339	D	0.14851265	0.33901	0.14571196	0.34548	0.14851265	0.33901	0.14571196	0.34547	-4.148	0.25995	T	.	.	0.750	0.79168	P	.;.;.;.;.;.	.;.;.;.;.;.	5.473321	0.91297	32	0.9993086285304652	0.99334	0.98573	0.84247	D	AEFDBI	0.970024	0.99235	D	0.740565316414967	0.82290	7.726079	0.710193367354726	0.83152	7.947448	0.999999999999226	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.562822	0.20929	0	.	.	4.97	4.97	0.65419	7.486000	0.80232	7.527000	0.59855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	14.955	0.70754	440	0.80101	Alpha crystallin/Hsp20 domain;Alpha crystallin/Hsp20 domain;Alpha crystallin/Hsp20 domain;Alpha crystallin/Hsp20 domain;.;Alpha crystallin/Hsp20 domain	.	.	.	.	.	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	1423.98	35	chr1	16015599	.	C	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-1.774e+00;SOR=0.660	GT:AD:DP:GQ:PL	0/1:75,58:133:99:1438,0,1808	20	0	1	0
chr1	16449149	16449149	C	G	exonic	NECAP2	.	nonsynonymous SNV	NECAP2:NM_001145277:exon5:c.C437G:p.P146R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	0.000	D	1.000	D	2.925	M	0.65	T	-0.202	T	0.373	T	0.85	4.469	23.9	5.84	2.760	7.156	17.638	0.491	0.0337593511185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.991	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.47	0.92451	M	0.65	0.53302	T	-7.14	0.94484	D	0.849	0.85660	-0.2022	0.77614	T	0.373	0.73190	T	10	0.8648213	0.85721	D	0.033759	0.55206	D	0.491	0.77783	0.691	0.82843	0.82926204464	0.82764	0.596985567377499	0.59629	1.0836660373	0.77211	0.609843254089	0.54293	T	0.187147	0.76895	T	0.268824	0.80336	D	0.14837	0.80082	D	0.99414506040574	0.85270	D	0.965303	0.87188	D	0.89239174	0.90713	0.84244525	0.91001	0.89239174	0.90714	0.84244525	0.91001	-15.324	0.96566	D	.	.	0.661	0.71382	P	.;.;.;.	.;.;.;.	4.375220	0.67400	25.1	0.99791858747100703	0.87750	0.98977	0.89442	D	AEFBI	0.909675	0.86661	D	0.917314281379544	0.92581	11.50646	0.870461790279724	0.94153	12.54343	0.999999999998783	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.539000	0.80984	7.701000	0.66289	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	17.638	0.88031	730	0.54327	NECAP, PHear 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	800.98	38	chr1	16449149	.	C	G	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.390e-01;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.21;ReadPosRankSum=-9.960e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,37:87:99:815,0,1251	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	0/1:650,88:740:99:475,0,18790	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	0/1:881,115:996:99:402,0,23986	3	0	18	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:388,295:683:99:7285,0,12135	1	0	20	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0/1:494,161:655:99:3306,0,17052	1	0	20	0
chr1	16569153	16569153	A	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00297872246145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.10572	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.33250	.	.	.	.	.	.	.	0.06037292	0.07406	T	0.002979	0.06369	T	.	.	.	.	0.0401082797425	0.02173	0.04029820569204778	0.03975	.	.	0.491197794676	0.37605	T	.	.	.	-0.518124	0.00451	T	-0.982026	0.00177	T	.	.	.	0.476352	0.14285	T	.	.	.	.	.	.	.	.	-2.859	0.08739	T	.	.	0.161	0.35581	B	.;.	.;.	-0.666899	0.01399	0.081	0.29475334859789659	0.01565	0.00394	0.01977	N	AEFBCI	0.027147	0.02165	N	.	.	.	.	.	.	8.2566396300814E-5	0.04703	0.228283	0.04149	0	0.429362	0.06391	1	0.155693	0.03940	1	0.221052	0.04502	0	.	.	0.575	-1.15	0.09211	-2.008000	0.01545	-20.000000	0.00162	-0.514000	0.04992	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	464	0.78488	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) 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	0.02381	953.98	41	chr1	16569153	.	A	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=2769;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.81;MQRankSum=-6.255e+00;QD=1.70;ReadPosRankSum=0.403;SOR=0.647	GT:AD:DP:GQ:PL	0/1:471,90:561:99:968,0,12128	20	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0/1:281,102:383:99:.:.:2073,0,7038	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|1:35,7:42:99:0|1:16579293_A_G:189,0,1435:16579293	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|1:35,7:42:99:0|1:16579293_A_G:189,0,1435:16579293	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|1:35,6:41:99:0|1:16579305_G_A:147,0,1439:16579305	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|1:35,7:42:99:0|1:16579305_G_A:185,0,1441:16579305	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	0/1:49,6:55:66:.:.:66,0,1766	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	0/1:136,32:168:99:629,0,4304	2	7	12	0
chr1	16970697	16970697	G	A	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon35:c.G5714A:p.R1905H,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.938	P	0.503	P	.	.	0.999	D	2.24	M	2.84	T	-1.090	T	0.036	T	0.161	3.994	20.5	1.04	0.367	2.104	7.001	0.048	0.0239182002988	7.7e-05	.	1.956e-05	0	0	0	0	1.712e-05	0	9.183e-05	1.29e-05	2	154602	rs139547234	4.272e-05	4.994e-05	4.112e-05	4.435e-05	0.0015	3.401e-05	3.087e-05	0.0007	0.0005	6.053e-05	0	3.92e-05	0	0	0.0015	3.973e-05	8.358e-05	2.357e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.077	0.34095	T	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	0.999464	0.47157	D	.	.	.	2.84	0.10674	T	-1.43	0.35194	N	0.245	0.27673	-1.0904	0.05466	T	0.036	0.15683	T	9	0.19869787	0.35850	T	0.023918	0.46899	T	0.048	0.13305	.	.	0.282575091529	0.27877	0.2520760041018954	0.25121	0.50911020817	0.49051	0.411735534668	0.26696	T	.	.	.	-0.20263	0.20424	T	-0.528841	0.19402	T	0.656581461429596	0.38746	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	2.945790	0.39182	20.9	0.99912658237485397	0.98167	0.69680	0.34284	D	AEFBCI	0.285706	0.39827	N	0.171125758231235	0.49815	3.177909	0.124978862827489	0.45830	2.839286	0.916755764236367	0.26521	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	4.6	1.04	0.19220	2.781000	0.47437	2.314000	0.32094	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0962:0.0:0.6183:0.2855	7.001	0.23986	846	0.36215	.	.	.	.	.	.	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	946.98	33	chr1	16970697	.	G	A	946.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-6.900e-02;SOR=0.637	GT:AD:DP:GQ:PL	0/1:47,39:86:99:961,0,1047	20	0	1	0
chr1	17282952	17282952	C	T	exonic	PADI3	.	nonsynonymous SNV	PADI3:NM_016233:exon16:c.C1868T:p.P623L,	Uncombable hair syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.993	D	0.001	D	1.000	D	3.185	M	1.22	T	-0.285	T	0.298	T	0.572	4.291	22.4	5.0	2.317	4.776	16.888	0.332	0.0484006719296	.	.	0.0002	0	0	0.0001	0.0026	0.0001	0	0	0.0001617	25	154602	rs200319177	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	8.1e-06	6.42e-06	0	0	0	2.519e-05	0.0035	0.0002	1.349e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	4.824e-05	0.0002	0.0001	1.171e-05	6.25e-06	4.824e-05	0	0	0	0	0.0026	0	4.409e-05	0	0	0.01	0.56456	D	0.009	0.66756	D	1.0	0.90584	D	0.993	0.81110	D	0.000816	0.41658	D	0.204875	0.999998	0.58761	D	2.55	0.74443	M	1.22	0.37052	T	-8.89	0.97914	D	0.544	0.57092	-0.2848	0.75410	T	0.298	0.66961	T	10	0.056569338	0.06361	T	0.048401	0.63358	D	0.332	0.65424	.	.	0.514416127146	0.51083	0.5691985806029526	0.56847	0.51877166463	0.49718	0.56741309166	0.48312	T	0.162243	0.50683	T	-0.118831	0.33316	T	-0.278018	0.47006	T	0.347586353263014	0.26924	T	.	.	.	0.46423894	0.64934	0.3682105	0.62115	0.46423894	0.64935	0.3682105	0.62115	-9.93	0.73492	D	.	.	0.206	0.43283	B	.	.	4.840503	0.79023	27.0	0.99873145091418647	0.95076	0.92143	0.55040	D	AEFBI	0.611401	0.59987	D	0.805689322851425	0.86462	8.892856	0.727972725372585	0.84502	8.309901	0.999999591998598	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	4.854000	0.62617	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:1.0:0.0:0.0	16.888	0.85948	693	0.58582	Protein-arginine deiminase, C-terminal	.	.	.	.	.	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	1448.98	33	chr1	17282952	.	C	T	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.13;DP=815;ExcessHet=0.0000;FS=5.785;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.348e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,54:118:99:0|1:17282952_C_T:1463,0,2489:17282952	20	0	1	0
chr1	21879108	21879108	T	C	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon18:c.A2360G:p.N787S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	205727	Schwartz-Jampel_syndrome|Lethal_Kniest-like_syndrome|Connective_tissue_disorder|not_provided	MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.992	D	0.001	D	0.745	N	3.075	M	-0.22	T	-0.151	T	0.420	T	0.124	3.669	18.65	4.08	0.811	5.239	9.359	0.375	.	0.0065	0.00179712	0.0067	0.0012	0.0020	0	0.0157	0.0095	0.0088	0.0017	0.0063324	979	154602	rs143736974	0.0070	0.0070	0.0070	0.0071	0.0076	0.0069	0.0069	0.0074	0.0074	0.0008	0.0023	0.0077	2.519e-05	0.0159	0.0024	0.0076	0.0068	0.0029	0.0061	0.0061	0.0060	0.0061	0.0087	0.0057	0.0056	0.0081	0.0079	0.0013	0	0.0046	0.0086	0.0002	0.0149	0.0034	0.0087	0.0057	0.0019	0.252	0.17014	T	0.018	0.59732	D	0.999	0.77913	D	0.992	0.80445	D	0.000738	0.42129	D	0.000000	0.745274	0.29693	N	2.905	0.84014	M	-0.22	0.66474	T	-2.78	0.58896	D	0.507	0.53884	-0.1510	0.78892	T	0.420	0.76550	T	10	0.012245119	0.00264	T	.	.	.	0.375	0.69358	.	.	0.609643014007	0.60650	0.27630792947456645	0.27543	0.183394758228	0.20629	0.496132850647	0.38290	T	0.314263	0.68595	T	-0.425831	0.01571	T	-0.375058	0.36300	T	0.0574038816292067	0.06754	T	0.894311	0.63332	D	0.48040593	0.65925	0.4265307	0.66427	0.48040593	0.65925	0.4265307	0.66427	-9.241	0.69235	D	.	.	0.198	0.42067	B	.	.	4.341864	0.66620	25.0	0.99827877460282632	0.91026	0.91085	0.52830	D	AEFBCI	0.660999	0.63137	D	0.647559683825149	0.76212	6.444776	0.558657061133332	0.72004	5.741643	0.999963396408416	0.48965	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	4.08	0.46880	5.187000	0.64925	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.086:0.0:0.914	9.359	0.37349	796	0.45353	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs143736974	Uncertain significance	0	0	0	0	0	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	438.98	38	chr1	21879108	.	T	C	438.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=807;ExcessHet=0.0000;FS=1.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.61;ReadPosRankSum=1.37;SOR=0.916	GT:AD:DP:GQ:PL	0/1:34,17:51:99:453,0,880	20	0	1	0
chr1	25780972	25780972	A	C	exonic	MAN1C1	.	nonsynonymous SNV	MAN1C1:NM_001385184:exon5:c.A1006C:p.N336H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.984	D	0.903	P	0.000	D	0.991	D	1.415	L	-0.66	T	-0.480	T	0.323	T	0.119	4.238	22.1	4.01	1.933	7.673	3.125	0.330	0.0397570578463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.123	0.35970	T	0.984	0.60733	D	0.903	0.64103	P	0.000002	0.62929	D	0.055871	0.990904	0.41262	D	1.33	0.33268	L	-0.66	0.72348	T	-1.94	0.45222	N	0.444	0.48504	-0.4803	0.69355	T	0.323	0.69221	T	10	0.66660583	0.70464	D	0.039757	0.58991	D	0.330	0.65226	0.719	0.85408	0.936644741402	0.93599	0.6441623772419003	0.64351	1.04198484188	0.75827	0.480990231037	0.36193	T	0.293318	0.71301	T	-0.0854337	0.38827	T	-0.360496	0.37996	T	0.970012485980988	0.68797	D	0.934407	0.75644	D	0.16778722	0.37196	0.15046144	0.35484	0.16778722	0.37196	0.15046144	0.35483	-7.35	0.56551	T	.	.	0.127	0.26855	B	.;.;.;.	.;.;.;.	4.785333	0.77609	26.7	0.99537715853167119	0.70274	0.98006	0.78815	D	AEFDBIJ	0.950226	0.96365	D	0.573475175855033	0.71523	5.663786	0.573459494427793	0.73044	5.906364	0.999999962189604	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.26897	0.05253	2	0.620846	0.47308	0	.	.	5.14	4.01	0.45821	7.784000	0.84325	6.008000	0.52598	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.608:0.0:0.392:0.0	3.125	0.06018	613	0.66686	.;.;.;.	.	.	.	.	.	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	1747.98	35	chr1	25780972	.	A	C	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.384;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=1.68;SOR=0.699	GT:AD:DP:GQ:PL	0/1:77,72:149:99:1762,0,1918	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|2:0,43,8:51:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:2152,316,184,1799,0,1776:26282320	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,8,47:55:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:2287,1939,1948,316,0,171:26282320	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,8,48:56:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:2318,1979,2074,311,0,162:26282320	8	0	0	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	2|2:0,0,48:56:99:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:2156,2150,2203,149,154,0:26282320	1	0	7	0
chr1	28529938	28529938	G	C	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G72C:p.K24N	.	.	.	.	.	.	.	.	.	0.0005	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.967	D	0.000	D	0.796	D	0	N	0.87	T	-0.338	T	0.360	T	0.312	3.793	19.26	0.591	0.290	0.007	6.317	0.385	0.0722973044124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.013	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.79565	0.34444	D	0.975	0.24501	L	-1.42	0.80645	T	-2.69	0.57435	D	0.534	0.59816	-0.3382	0.73896	T	0.360	0.72216	T	10	0.3560201	0.52350	T	0.072297	0.71496	D	0.385	0.70194	0.466	0.53729	0.810979576649	0.80920	0.4355928167309696	0.43476	1.08794106341	0.77349	0.71510207653	0.69333	T	0.171459	0.51959	T	-0.0209551	0.48717	T	-0.267877	0.48035	T	0.966483950614929	0.67598	D	0.647135	0.26150	T	0.8713628	0.88969	0.54599774	0.73756	0.8713628	0.88971	0.54599774	0.73757	-4.422	0.41312	T	.	.	0.469	0.83749	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.349977	0.46200	22.3	0.9977828321055946	0.86519	0.71592	0.35080	D	AEFDBI	0.232333	0.35542	N	0.0636588868213935	0.44772	2.745291	0.054517838595966	0.42291	2.555406	0.945564337054047	0.27666	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.591	0.16648	0.093000	0.14925	1.729000	0.28315	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.4743:0.0:0.5257:0.0	6.317	0.20404	509	0.75304	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.06667	90.84	80	chr1	28529938	.	G	C	90.84	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.742e+00;DP=1197;ExcessHet=0.1072;FS=189.759;InbreedingCoeff=-0.1499;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=0.766;SOR=8.379	GT:AD:DP:GQ:PL	0/1:63,30:102:41:41,0,699	13	0	2	6
chr1	30950129	30950129	T	C	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon17:c.A2854G:p.I952V,	.	.	432	1072	17	1	0	19	0.0087841	0.2044	0.386	2330725	not_provided|Inborn_genetic_diseases|PUM1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.794	P	0.722	P	0.000	D	1.000	D	1.21	L	2.56	T	-0.800	T	0.220	T	0.276	2.951	15.84	5.26	2.212	6.023	15.355	0.115	0.00648079709676	0.0015	0.00159744	0.0018	0.0006	0.0004	0	0.0026	0.0016	0.0011	0.0053	0.0017464	270	154602	rs146226392	0.0022	0.0022	0.0021	0.0023	0.0048	0.0021	0.0021	0.0045	0.0043	0.0006	0.0002	0.0028	0	0.0028	0.0033	0.0021	0.0020	0.0048	0.0015	0.0016	0.0016	0.0015	0.0037	0.0014	0.0013	0.0024	0.0020	0.0004	0	0.0003	0.0014	0.0002	0.0037	0.0034	0.0022	0.0005	0.0037	0.048	0.41096	D	0.335	0.22426	T	0.794	0.44757	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.56	0.13673	T	-0.12	0.09135	N	0.406	0.45047	-0.8005	0.55115	T	0.220	0.58306	T	10	0.008738935	0.00198	T	0.006481	0.17072	T	0.115	0.32236	.	.	0.253981072376	0.25009	0.43349379434496876	0.43266	0.94141016562	0.72219	0.800033688545	0.81968	T	.	.	.	-0.491766	0.00636	T	-0.478898	0.24562	T	0.0158499845269969	0.00372	T	0.935206	0.76795	D	.	.	.	.	.	.	.	.	-6.86	0.53543	T	.	.	0.163	0.47869	B	.;.;.;.;.	.;.;.;.;.	4.001011	0.58953	24.0	0.99614163822304869	0.74992	0.97769	0.77000	D	AEFBI	0.717234	0.66882	D	0.64073511389563	0.75770	6.365108	0.648192337306219	0.78475	6.884009	0.999764620529313	0.42728	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.26	5.26	0.73479	6.167000	0.71757	5.175000	0.47843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.355	0.74137	946	0.12043	Pumilio homology domain|Pumilio, RNA binding domain;.;.;Pumilio homology domain|Pumilio, RNA binding domain;Pumilio homology domain|Pumilio, RNA 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	0.02381	2293.98	33	chr1	30950129	.	T	C	2293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.838;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-2.000e-03;SOR=0.650	GT:AD:DP:GQ:PL	0/1:77,89:166:99:2308,0,1818	20	0	1	0
chr1	32208072	32208072	C	T	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon5:c.C1631T:p.P544L	.	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.799	P	0.308	N	1.000	N	0.895	L	1.4	T	-1.082	T	0.074	T	0.265	3.167	16.59	2.87	1.186	1.776	7.496	0.067	.	0.0047	0.00219649	0.0059	0.0020	0.0033	0	0.0021	0.0058	0.0014	0.0143	0.0042496	657	154602	rs41306593	0.0058	0.0058	0.0056	0.0060	0.0108	0.0057	0.0057	0.0103	0.0100	0.0009	0.0019	0.0007	2.525e-05	0.0029	0.0031	0.0062	0.0056	0.0108	0.0034	0.0034	0.0038	0.0030	0.0077	0.0032	0.0031	0.0057	0.0050	0.0011	0	0.0017	0.0006	0	0.0018	0	0.0057	0.0038	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.99	0.63424	D	0.799	0.58136	P	0.307832	0.14486	N	0.575442	1	0.08975	N	1.04	0.26193	L	1.4	0.36330	T	-2.32	0.51478	N	0.257	0.30914	-1.0821	0.06946	T	0.074	0.29865	T	10	0.0046834946	0.00098	T	.	.	.	0.067	0.19503	.	.	0.117506650769	0.11410	0.01820497705566635	0.01774	0.304605667835	0.32764	0.34721109271	0.17511	T	0.01481	0.12542	T	-0.505136	0.00535	T	-0.488975	0.23499	T	0.0272688329987866	0.01583	T	0.642236	0.25428	T	0.061849557	0.12853	0.08253657	0.18846	0.061849557	0.12852	0.08253657	0.18846	-3.94	0.23008	T	.	.	0.084	0.18828	B	.;.	.;.	3.184410	0.43240	21.7	0.99400352820044935	0.62794	0.32918	0.24702	N	AEFBHCI	0.050381	0.08799	N	-0.108836810699928	0.37008	2.146992	-0.236672425733594	0.30232	1.700504	0.999997826362323	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.489635	0.07774	0	0.645665	0.59343	0	.	.	3.79	2.87	0.32523	1.788000	0.38346	0.834000	0.21977	-1.114000	0.01484	0.659000	0.28251	0.061000	0.22037	0.018000	0.11154	0.0:0.8818:0.0:0.1182	7.496	0.26661	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1145.11	40	chr1	32208072	.	C	T	1145.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.077;DP=778;ExcessHet=0.1072;FS=0.856;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=1.13;SOR=0.572	GT:AD:DP:GQ:PL	0/1:24,17:41:99:398,0,610	19	0	2	0
chr1	32376546	32376546	T	C	exonic	BSDC1	.	nonsynonymous SNV	BSDC1:NM_001143890:exon7:c.A587G:p.N196S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.015	B	0.023	B	0.026	N	0.713	D	1.32	L	0.92	T	-1.054	T	0.066	T	0.018	0.406	6.204	-1.59	-0.158	1.204	5.888	0.043	0.00774375921037	7.7e-05	.	1.764e-05	0	0	0.0001	0	1.546e-05	0	0	3.84e-05	1	26028	rs370603325	7.826e-06	1.026e-05	9.829e-06	5.769e-06	4.863e-05	4.2e-06	3.07e-06	8.06e-06	3.01e-06	3.073e-05	4.863e-05	0	0	0	0	7.438e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29554	T	0.357	0.18560	T	0.0	0.17086	B	0.002	0.19966	B	0.026320	0.25941	N	0.470755	0.599287	0.33537	D	0.835	0.21042	L	0.92	0.44461	T	-1.16	0.29727	N	0.022	0.01740	-1.0535	0.13440	T	0.066	0.27295	T	10	0.055755734	0.06145	T	0.007744	0.20536	T	0.043	0.11576	.	.	0.416956310301	0.41315	0.17843495663625186	0.17762	0.171263718839	0.19293	0.257007211447	0.04541	T	0.040087	0.25409	T	-0.329835	0.06124	T	-0.711561	0.05215	T	0.0339869143985243	0.02635	T	0.873413	0.58483	D	0.027951645	0.02061	0.037589673	0.03444	0.027951645	0.02061	0.037589673	0.03443	-0.441	0.00788	T	.	.	0.068	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.947901	0.13241	9.740	0.68442605534737877	0.08660	0.61969	0.31640	D	AEFDGBCI	0.100864	0.20271	N	-0.833199064890218	0.12468	0.6078995	-0.847281034160732	0.13353	0.6922386	0.756500183876622	0.23442	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.87	-1.59	0.08003	1.242000	0.32358	0.183000	0.15654	0.665000	0.62972	1.000000	0.71638	0.028000	0.21151	0.301000	0.24523	0.0:0.3021:0.1318:0.5661	5.888	0.18137	479	0.77495	.;.;.;.;.	.	.	.	.	.	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	1100.98	39	chr1	32376546	.	T	C	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.489;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=-1.229e+00;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1115,0,1255	20	0	1	0
chr1	34794607	34794607	C	T	exonic	GJA4	.	nonsynonymous SNV	GJA4:NM_002060:exon2:c.C394T:p.R132C,	.	.	171	1306	40	5	0	50	0.0187829	.	.	707363	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.946	P	0.333	B	0.485	N	1.000	D	0.895	L	-4.47	D	0.695	D	0.764	D	0.301	2.204	13.33	4.13	2.360	1.160	11.059	0.405	.	0.0068	0.00419329	0.0095	0.0017	0.0062	0	0.0081	0.0116	0.0146	0.0134	0.0089003	1376	154602	rs61777220	0.0098	0.0098	0.0096	0.0100	0.0200	0.0097	0.0096	0.0170	0.0159	0.0013	0.0053	0.0206	2.519e-05	0.0098	0.0200	0.0099	0.0103	0.0140	0.0079	0.0079	0.0080	0.0077	0.0143	0.0075	0.0073	0.0116	0.0106	0.0018	0	0.0076	0.0248	0	0.0082	0.0238	0.0108	0.0114	0.0143	0.046	0.40832	D	0.035	0.56640	D	0.946	0.53363	P	0.333	0.42166	B	0.484983	0.12122	N	0.687923	0.769098	0.34129	D	1.39	0.34934	L	-4.47	0.97713	D	-2.02	0.46503	N	0.226	0.25377	0.695	0.93112	D	0.764	0.91963	D	10	0.007856071	0.00178	T	.	.	.	0.405	0.71791	.	.	0.970688122384	0.97037	0.5812088919128856	0.58049	0.819732499615	0.67100	0.345710337162	0.17288	T	0.728999	0.92399	D	-0.201871	0.20535	T	-0.0510736	0.66950	D	0.0201127774959818	0.00712	T	0.857914	0.57225	D	0.15551671	0.35143	0.09299633	0.21943	0.15551671	0.35143	0.09299633	0.21943	-8.933	0.67264	D	.	.	0.124	0.26607	B	.;.	.;.	3.433884	0.47740	22.5	0.99798233082737386	0.88283	0.71097	0.34867	D	AEFDBCI	0.438362	0.49778	N	0.0598603509916537	0.44597	2.730857	0.0723636387507308	0.43165	2.62392	0.907594485952564	0.26263	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.620976	0.48614	0	.	.	5.11	4.13	0.47661	3.749000	0.54867	2.695000	0.34117	0.599000	0.40250	1.000000	0.71638	0.992000	0.31684	0.659000	0.32940	0.377:0.623:0.0:0.0	11.059	0.47153	918	0.19598	Connexin, N-terminal;Connexin, 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	3013.11	105	chr1	34794607	.	C	T	3013.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=1474;ExcessHet=0.1072;FS=1.474;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.734;SOR=0.604	GT:AD:DP:GQ:PL	0/1:77,50:127:99:1224,0,1930	19	0	2	0
chr1	37822635	37822635	G	A	exonic	MTF1	.	nonsynonymous SNV	MTF1:NM_005955:exon9:c.C1253T:p.S418F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.914	P	0.606	P	0.002	N	1.000	D	0.55	N	2.83	T	-1.160	T	0.035	T	0.728	4.267	22.3	6.11	2.906	4.152	18.915	0.165	0.00694689791544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	0.914	0.50529	P	0.606	0.50970	P	0.002487	0.36462	N	0.336090	0.999934	0.51612	D	2.045	0.56016	M	2.83	0.10771	T	-1.79	0.42191	N	0.669	0.67736	-1.1596	0.00766	T	0.035	0.14987	T	10	0.5400816	0.63669	D	0.006947	0.18402	T	0.165	0.42395	0.294	0.25720	0.335916738318	0.33200	0.36124736708149335	0.36038	0.625116535824	0.56694	0.601208567619	0.53075	T	.	.	.	0.0320576	0.55997	T	-0.191728	0.55427	T	0.834953165965201	0.48921	D	0.887111	0.61484	D	0.20430952	0.42537	0.41254905	0.65454	0.20430952	0.42536	0.41254905	0.65454	-6.687	0.51712	T	.	.	0.322	0.54675	B	.	.	4.775223	0.77344	26.7	0.99856921623862704	0.93548	0.98524	0.83701	D	AEFBI	0.640147	0.61794	D	0.486466976831538	0.66298	4.932242	0.589921905935652	0.74214	6.099428	0.999997961540574	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.11	6.11	0.99132	5.694000	0.67933	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.915	0.92473	820	0.40914	.	.	.	.	.	.	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	1613.98	33	chr1	37822635	.	G	A	1613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.87;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=1.18;SOR=0.699	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1628,0,1757	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	0/1:2,12,0:14:21:.:.:339,0,21,345,58,403	0	12	8	0
chr1	43185227	43185227	G	A	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001167965:exon5:c.G840A:p.M280I	.	.	0	1521	1	0	0	1	0.000328623	.	.	2812723	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.006	B	0.002	B	0.421	N	1.000	N	0	N	3.5	T	-0.964	T	0.011	T	0.027	1.262	10.11	1.17	0.755	0.305	5.248	0.039	0.00683375803288	.	.	0.0002	0	0.0015	0.0001	0	0.0001	0.0011	0	0.0001746	27	154602	rs769471878	4.104e-05	4.104e-05	4.628e-05	3.575e-05	0.0008	3.244e-05	2.919e-05	0.0006	0.0005	0	0.0008	0	5.038e-05	0	0.0003	1.529e-05	8.279e-05	0	2.627e-05	2.625e-05	2.571e-05	2.685e-05	6.535e-05	8.14e-06	5.14e-06	7.98e-06	2.98e-06	4.814e-05	0	6.535e-05	0	0	0	0.0034	0	0	0	0.203	0.20154	T	0.255	0.23433	T	0.0	0.13644	B	0.0	0.06944	B	0.421087	0.04648	N	1.364740	1	0.08975	N	.	.	.	3.5	0.05014	T	-0.46	0.17210	N	0.197	0.21710	-0.9637	0.38468	T	0.011	0.04042	T	10	0.019804418	0.00447	T	0.006834	0.18065	T	0.039	0.10176	0.337	0.32654	0.0297737177859	0.01360	0.11311458852989056	0.11239	0.163571711338	0.18441	0.280321240425	0.07537	T	0.005398	0.06855	T	-0.654929	0.00068	T	-0.813237	0.01594	T	0.0102831104292406	0.00140	T	0.506949	0.16072	T	0.0915793	0.21462	0.10719651	0.25803	0.0915793	0.21462	0.10719651	0.25803	-2.392	0.06703	T	.	.	0.092	0.14842	B	.;.;.	.;.;.	0.455792	0.08254	4.999	0.61593403770410626	0.06748	0.11495	0.16672	N	AEFDBHI	0.110618	0.21929	N	-0.964873640266258	0.09361	0.4427431	-0.939209189276506	0.11174	0.567667	1.93403832707438E-4	0.05898	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.53	1.17	0.19998	0.414000	0.20885	0.645000	0.20357	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.0789:0.4779:0.2435:0.1997	5.248	0.14823	466	0.78352	.;.;.	.	.	.	.	.	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	2082.98	36	chr1	43185227	.	G	A	2082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.380e-01;DP=897;ExcessHet=0.0000;FS=4.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=-1.651e+00;SOR=0.572	GT:AD:DP:GQ:PL	0/1:86,91:177:99:2097,0,1941	20	0	1	0
chr1	46185497	46185497	G	A	exonic	TSPAN1	.	nonsynonymous SNV	TSPAN1:NM_005727:exon9:c.G690A:p.M230I,	.	.	413	1103	5	1	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.957	D	0.859	P	0.000	D	1.000	D	2.18	M	-1.16	T	-0.160	T	0.533	D	0.9	4.721	26.3	5.36	2.515	5.971	16.230	0.627	0.0883654677359	0.0028	0.00139776	0.0030	0.0005	0.0022	0	0.0032	0.0039	0.0033	0.0030	0.0028654	443	154602	rs34463133	0.0029	0.0029	0.0029	0.0029	0.0034	0.0028	0.0028	0.0032	0.0031	0.0004	0.0014	0.0003	0.0001	0.0023	0.0033	0.0032	0.0023	0.0034	0.0022	0.0022	0.0022	0.0021	0.0035	0.0020	0.0019	0.0030	0.0028	0.0007	0.0011	0.0012	0	0	0.0033	0	0.0033	0.0014	0.0035	0.163	0.23450	T	0.016	0.60972	D	0.957	0.54824	D	0.859	0.61184	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	-1.16	0.78082	T	-2.68	0.57275	D	0.338	0.37923	-0.1596	0.78681	T	0.533	0.82709	D	10	0.013733625	0.00290	T	0.088365	0.75120	D	0.627	0.85615	0.658	0.79585	0.652953024311	0.65006	0.7969632555474615	0.79649	0.777021582019	0.65084	0.477970838547	0.35777	T	0.298677	0.67123	T	0.0068506	0.52596	T	0.235908	0.84954	D	0.0196533650159836	0.00668	T	0.849815	0.53298	T	0.62144357	0.73841	0.5577279	0.74415	0.62144357	0.73842	0.5577279	0.74416	-6.471	0.50062	T	.	.	0.895	0.82395	P	.	.	4.477672	0.69836	25.4	0.99572763326683877	0.72501	0.84188	0.43271	D	AEFDGBHCI	0.814069	0.73639	D	0.550366806505879	0.70105	5.452827	0.564604200701153	0.72420	5.806931	0.999999999999966	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.36	5.36	0.76624	6.395000	0.73157	9.977000	0.82899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.230	0.82154	91	0.96221	.	.	.	.	.	.	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	1806.98	34	chr1	46185497	.	G	A	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.619e+00;DP=930;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.180e+00;SOR=0.599	GT:AD:DP:GQ:PL	0/1:75,81:156:99:1821,0,1872	20	0	1	0
chr1	46402197	46402232	TGGGAAAGGTAAGGCCAGCCAAGGCCAGCCCCTCCC	-	exonic	FAAH	.	frameshift deletion	FAAH:NM_001441:exon2:c.302_309del:p.V101Gfs*17,	.	.	399	1116	6	1	0	8	0.00357143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0067	0.0006	0.0025	0	0.0001	0	0.0077	0.0001537	4	26028	rs771132315	0.0020	0.0022	0.0018	0.0022	0.0200	0.0020	0.0020	0.0188	0.0183	0.0166	0.0013	0.0039	0.0200	0.0023	0.0035	0.0002	0.0033	0.0113	0.0069	0.0071	0.0070	0.0069	0.0185	0.0066	0.0064	0.0174	0.0169	0.0185	0	0.0018	0.0032	0.0174	0.0030	0.0408	0.0003	0.0071	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	180.94	34	chr1	46402196	.	GTGGGAAAGGTAAGGCCAGCCAAGGCCAGCCCCTCCC	G	180.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.740e-01;DP=754;ExcessHet=0.0000;FS=5.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.46;ReadPosRankSum=-1.460e-01;SOR=2.584	GT:AD:DP:GQ:PL	0/1:22,6:28:99:195,0,897	20	0	1	0
chr1	46408574	46408574	C	T	exonic	FAAH	.	nonsynonymous SNV	FAAH:NM_001441:exon8:c.C1067T:p.A356V,	.	.	414	1101	6	1	0	8	0.00361991	.	.	718997	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.936	D	0.000	D	1.000	D	3.115	M	0.44	T	-0.196	T	0.267	T	0.678	5.097	31	5.4	2.548	5.585	19.190	0.396	.	0.0009	0.00838658	0.0034	0.0022	0.0006	0.0169	0	0.0003	0.0011	0.0131	0.0031953	494	154602	rs77101686	0.0017	0.0017	0.0014	0.0020	0.0222	0.0017	0.0016	0.0210	0.0205	0.0020	0.0007	0.0043	0.0222	0	0.0040	0.0001	0.0028	0.0129	0.0020	0.0020	0.0017	0.0023	0.0183	0.0018	0.0017	0.0153	0.0142	0.0020	0	0.0003	0.0032	0.0183	0	0.0374	0.0002	0.0024	0.0170	0.003	0.68238	D	0.029	0.54541	D	1.0	0.90584	D	0.936	0.67150	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	0.44	0.56609	T	-3.67	0.70191	D	0.73	0.73105	-0.1956	0.77785	T	0.267	0.63865	T	10	0.011951804	0.00259	T	.	.	.	0.396	0.71084	.	.	0.806064019638	0.80425	0.41192656414094786	0.41108	1.09401069555	0.77525	0.473352611065	0.35141	T	0.246407	0.61587	T	-0.225032	0.17311	T	-0.0790997	0.64970	T	0.0260833959470182	0.01417	T	0.975069	0.91165	D	0.70709634	0.78448	0.6738057	0.80852	0.70709634	0.78449	0.6738057	0.80853	-9.851	0.73015	D	.	.	0.122	0.25462	B	.	.	5.044160	0.83977	28.2	0.99938092350158414	0.99698	0.97203	0.73298	D	AEFBI	0.816052	0.73787	D	0.866589364303899	0.90032	10.223	0.80987765835272	0.90471	10.42277	0.999999931186536	0.74766	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	5.685000	0.67865	5.964000	0.51876	-0.175000	0.10903	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0:1.0:0.0:0.0	19.190	0.93646	94	0.96106	Amidase signature domain	.	.	.	.	rs77101686	Uncertain significance	0	0	0	0	0	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	1597.98	34	chr1	46408574	.	C	T	1597.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.22;SOR=0.673	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1612,0,1392	20	0	1	0
chr1	46412213	46412213	C	G	exonic	FAAH	.	nonsynonymous SNV	FAAH:NM_001441:exon13:c.C1427G:p.A476G,	.	.	415	1100	6	1	0	8	0.00362319	.	.	719000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.235	N	-0.13	T	-1.094	T	0.053	T	0.149	0.490	6.661	4.66	1.203	6.705	15.054	0.147	.	0.0008	0.00858626	0.0055	0.0020	0.0018	0.0206	0	0.0005	0.0050	0.0119	0.0019728	305	154602	rs75429705	0.0017	0.0017	0.0014	0.0020	0.0225	0.0016	0.0016	0.0212	0.0207	0.0020	0.0007	0.0043	0.0225	0	0.0040	8.864e-05	0.0030	0.0128	0.0020	0.0020	0.0017	0.0023	0.0181	0.0018	0.0017	0.0152	0.0141	0.0020	0	0.0003	0.0032	0.0181	0	0.0374	0.0002	0.0024	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000022	0.55875	N	0.120287	0.999789	0.20372	N	-1.135	0.00931	N	-0.13	0.64818	T	1.94	0.00435	N	0.134	0.13055	-1.0944	0.04839	T	0.053	0.22539	T	10	0.008026004	0.00182	T	.	.	.	0.147	0.38986	.	.	0.586602809486	0.58333	0.6235040766255612	0.62283	0.337364224605	0.35732	0.365211248398	0.20142	T	0.026639	0.19670	T	-0.473302	0.00811	T	-0.436386	0.29212	T	0.00636535984990673	0.00071	T	0.0621938	0.00452	T	0.08743576	0.20361	0.10064022	0.24069	0.08743576	0.20360	0.10064022	0.24068	0.162	0.00296	T	.	.	0.046	0.00057	B	.	.	2.511553	0.32436	19.04	0.83504806691106614	0.14762	0.08016	0.13994	N	ALL	0.039342	0.05699	N	-0.579435519013347	0.19570	1.025281	-0.366861812356833	0.25992	1.432885	0.999999999658464	0.74766	0.631981	0.41245	0	0.61073	0.52368	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	4.66	4.66	0.57857	7.047000	0.76316	9.878000	0.82178	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.1428:0.8572:0.0	15.054	0.71567	94	0.96106	Amidase signature domain	.	.	.	.	rs75429705	Uncertain significance	0	0	0	0	0	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	1218.98	36	chr1	46412213	.	C	G	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.434;SOR=0.738	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1233,0,1288	20	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.025	M	.	.	0.264	D	0.557	D	0.741	5.819	36	5.31	2.490	9.817	17.964	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	650.19	81	chr1	46613215	.	G	C	650.19	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.295e+00;DP=2536;ExcessHet=0.3300;FS=133.457;InbreedingCoeff=-0.1712;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.21;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,39:178:99:.:.:120,0,3340	12	0	3	6
chr1	46678618	46678618	C	T	exonic	EFCAB14	.	nonsynonymous SNV	EFCAB14:NM_014774:exon11:c.G1331A:p.R444H,	.	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.673	N	0.997	D	-1.245	N	3.04	T	-0.951	T	0.007	T	0.07	-0.559	1.475	2.88	0.440	1.304	4.357	0.049	.	.	0.00279553	0.0009	0	8.643e-05	0	0	1.5e-05	0.0011	0.0062	0.0008215	127	154602	rs572799869	0.0005	0.0005	0.0003	0.0006	0.0070	0.0004	0.0004	0.0065	0.0063	0	0	0	5.046e-05	1.873e-05	0.0002	1.89e-05	0.0006	0.0070	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	2.41e-05	0	0	0	0	0	0	0	0	0.0081	1.0	0.00964	T	0.143	0.33219	T	0.0	0.02946	B	0.0	0.01387	B	0.673001	0.10324	N	0.861311	0.99726	0.43752	D	-1.4	0.00597	N	3.04	0.08810	T	0.77	0.01949	N	0.038	0.01203	-0.9514	0.40730	T	0.007	0.02399	T	10	0.0045357943	0.00094	T	.	.	.	0.049	0.13647	.	.	0.101711395817	0.09552	0.19881608764194802	0.19798	0.160446265012	0.18105	0.232040479779	0.02122	T	0.005987	0.05431	T	-0.663208	0.00060	T	-0.7224	0.04680	T	0.0403446691664305	0.03752	T	0.213879	0.02633	T	0.016162174	0.00180	0.026113372	0.00684	0.016162174	0.00180	0.026113372	0.00684	-5.387	0.40794	T	.	.	0.057	0.00524	B	.	.	1.883430	0.23925	16.20	0.80414156731790898	0.13191	0.06469	0.12478	N	AEFBI	0.024614	0.01553	N	-0.958795365989689	0.09496	0.4496877	-0.693369804851687	0.17126	0.9092313	0.132293724273485	0.17114	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.23	2.88	0.32617	1.300000	0.33040	-0.024000	0.12886	-0.901000	0.02322	1.000000	0.71638	0.381000	0.24616	0.981000	0.58702	0.1463:0.1557:0.0:0.698	4.357	0.10619	194	0.92479	EF-hand 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	779.98	36	chr1	46678618	.	C	T	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.341;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.070e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:25,31:56:99:794,0,586	20	0	1	0
chr1	49851452	49851452	C	A	exonic	AGBL4	.	nonsynonymous SNV	AGBL4:NM_001323573:exon2:c.G101T:p.G34V	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.945	D	0.000	D	1.000	D	2.71	M	1.4	T	-0.742	T	0.159	T	0.712	3.415	17.54	4.15	2.344	3.279	9.229	0.280	0.0845270753052	0.0022	0.00119808	0.0006	0.0060	0	0	0	0	0	0	0.0001294	20	154602	rs182850756	0.0001	0.0001	0.0002	0.0001	0.0053	0.0001	0.0001	0.0047	0.0044	0.0053	0.0003	0	0	0	0.0002	6.491e-06	0.0002	0	0.0014	0.0014	0.0015	0.0012	0.0048	0.0012	0.0011	0.0042	0.0040	0.0048	0	0.0005	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.005	0.83351	D	0.998	0.73220	D	0.945	0.68163	D	0.000149	0.49130	D	0.081669	1	0.81001	D	1.78	0.46185	L	1.4	0.33630	T	-5.3	0.90411	D	0.552	0.62781	-0.7415	0.58376	T	0.159	0.49228	T	9	0.0124979615	0.00268	T	0.084527	0.74345	D	0.280	0.59740	.	.	0.298403945805	0.29456	0.7036919565012681	0.70310	0.599678572617	0.55079	0.568824470043	0.48512	T	0.088421	0.38154	T	-0.286807	0.09958	T	-0.183802	0.56169	T	0.120097267693209	0.14440	T	0.787021	0.42574	T	0.7581082	0.81341	0.58794624	0.76098	0.7581082	0.81343	0.58794624	0.76099	-6.342	0.49055	T	.	.	0.217	0.56191	B	.;.;.	.;.;.	4.383760	0.67590	25.1	0.9972734477320766	0.82477	0.95328	0.64293	D	AEFI	0.595127	0.58979	D	0.600276557248543	0.73191	5.926224	0.540220668543127	0.70721	5.546821	2.07147373058915E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	4.15	0.47978	3.425000	0.52535	5.842000	0.50257	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.7692:0.1485:0.0822	9.229	0.36589	592	0.68746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	785.98	36	chr1	49851452	.	C	A	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.440e-01;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=0.515;SOR=0.769	GT:AD:DP:GQ:PL	0/1:66,40:106:99:800,0,1615	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	1|2:0,7,4:11:99:1|0:50419101_CCGGCGG_C:589,114,147,286,0,256:50419101	0	2	0	0
chr1	70952979	70952979	G	-	exonic	PTGER3	.	frameshift deletion	PTGER3:NM_198718:exon4:c.1185delC:p.N395Kfs*9,	.	.	438	1070	13	1	0	15	0.00696056	.	.	696867	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.00219649	0.0053	0.0009	0.0030	0	0.0091	0.0077	0.0044	0.0008	0.0009605	25	26028	rs568967213	0.0080	0.0081	0.0082	0.0079	0.0095	0.0079	0.0079	0.0093	0.0093	0.0011	0.0031	0.0036	0	0.0085	0.0052	0.0095	0.0064	0.0011	0.0057	0.0057	0.0059	0.0055	0.0090	0.0054	0.0052	0.0084	0.0082	0.0011	0	0.0052	0.0049	0	0.0087	0.0068	0.0090	0.0043	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2625.94	38	chr1	70952978	.	TG	T	2625.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.310e-01;DP=868;ExcessHet=0.0000;FS=1.191;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-3.140e-01;SOR=0.577	GT:AD:DP:GQ:PL	0/1:100,79:179:99:2640,0,3465	20	0	1	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3414299	Hypertrophic_cardiomyopathy_2	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.47	T	0.973	D	0.648	P	0.000	D	1.000	D	1.735	L	0.31	T	-0.963	T	0.154	T	0.348	4.133	21.3	6.03	2.868	6.514	13.716	0.138	0.0164858304763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.046	0.49120	D	0.973	0.57599	D	0.585	0.50320	P	0.000023	0.55875	D	0.000000	0.905979	0.36288	D	2.015	0.55033	M	0.19	0.60236	T	-1.01	0.29933	N	0.455	0.49237	-0.9629	0.38625	T	0.154	0.48378	T	10	0.34226173	0.51261	T	0.016486	0.37771	T	0.138	0.37187	0.392	0.41606	0.693294191124	0.69065	0.13722819317445287	0.13646	0.192239442232	0.21553	0.485696047544	0.36842	T	0.018272	0.14759	T	-0.0193476	0.48946	T	-0.265568	0.48267	T	0.786236812373274	0.45445	D	0.978102	0.92255	D	0.10524542	0.24882	0.1166717	0.28166	0.10524542	0.24882	0.1166717	0.28165	-6.321	0.50449	T	0.2120513649046057	0.28444	0.679	0.72087	P	.;.	.;.	4.374991	0.67387	25.1	0.9810877380999008	0.38334	0.98337	0.81764	D	AEFBI	0.814499	0.73671	D	0.543291857114929	0.69675	5.390713	0.620374817542519	0.76421	6.487894	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	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	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10,0:43:58:0|1:77935995_G_C:58,0,1063,157,1091,1248:77935995	11	0	4	2
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.148	B	0.021	B	0.000	D	1.000	D	0.085	N	0.45	T	-1.052	T	0.041	T	0.151	1.673	11.55	6.03	2.868	6.514	13.716	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	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	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10,0:43:58:0|1:77935995_G_C:58,0,1063,157,1091,1248:77935995	11	0	4	2
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.089	N	0.999	N	-0.345	N	3.28	T	-0.932	T	0.002	T	0.048	2.206	13.34	2.91	0.308	0.889	1.797	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	606.1	33	chr1	85158755	.	A	G	606.1	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.537e+00;DP=1578;ExcessHet=3.5521;FS=65.892;InbreedingCoeff=-0.2459;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=-3.190e-01;SOR=9.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,15:77:30:.:.:30,0,1481	13	0	8	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	0/1:46,27:73:99:.:.:415,0,984	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|1:0,349,0,0:351:99:1|1:86580213_TCCTACA_T:14820,1057,0,13208,1075,12701,13208,1075,12701,12701:86580213	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|1:0,349,0,0:351:99:1|1:86580213_TCCTACA_T:14820,1057,0,13208,1075,12701,13208,1075,12701,12701:86580213	0	12	6	0
chr1	93246862	93246862	C	T	exonic	CCDC18	.	nonsynonymous SNV	CCDC18:NM_001306076:exon23:c.C3103T:p.R1035C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.67	L	-1.2	T	0.116	D	0.537	D	0.767	4.346	22.9	5.24	2.435	5.458	18.816	0.609	0.0541253181638	.	.	1.666e-05	0	0	0	0	1.508e-05	0	6.076e-05	1.94e-05	3	154602	rs757538758	5.075e-06	1.164e-05	2.901e-06	7.248e-06	6.18e-05	2.11e-06	1.36e-06	2.406e-05	1.511e-05	0	0	0	0	0	0	9.547e-07	1.737e-05	6.18e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.005	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	-1.2	0.78537	T	-4.81	0.80767	D	0.509	0.64989	0.116	0.84472	D	0.537	0.82882	D	10	0.7058997	0.72735	D	0.054125	0.65736	D	0.609	0.84666	0.372	0.38340	0.760880696488	0.75870	0.2966828084306163	0.29581	.	.	0.760693073273	0.76032	T	0.292733	0.66545	T	0.15988	0.70189	D	0.101938	0.77037	D	0.992017388343811	0.82399	D	0.917708	0.70674	D	0.6249369	0.74027	0.4005653	0.64589	0.6249369	0.74028	0.4005653	0.64589	-12.281	0.86192	D	.	.	0.179	0.40279	B	.;.;.	.;.;.	5.526849	0.91835	32	0.99900498769451551	0.97275	0.92476	0.55800	D	AEFI	0.750310	0.69147	D	0.692492765477962	0.79140	7.015328	0.675540060762139	0.80525	7.318384	0.999763781092684	0.42728	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	5.296000	0.65493	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	18.816	0.92044	437	0.80299	.;.;.	.	.	.	.	.	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	1537.98	33	chr1	93246862	.	C	T	1537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.182;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.656;SOR=0.655	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1552,0,1224	20	0	1	0
chr1	99689087	99689087	C	T	exonic	PALMD	.	nonsynonymous SNV	PALMD:NM_017734:exon7:c.C827T:p.T276M,	.	.	433	1074	14	1	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.752	P	0.026	B	0.835	N	1.000	N	0	N	2.19	T	-0.975	T	0.006	T	0.09	-0.244	2.824	0.667	0.171	0.474	2.396	0.029	0.00621147428308	0.0017	0.00139776	0.0019	9.752e-05	0.0011	0.0001	0.0005	0.0024	0.0044	0.0032	0.0018887	292	154602	rs150035005	0.0015	0.0015	0.0013	0.0016	0.0064	0.0014	0.0014	0.0048	0.0042	0.0003	0.0018	0	5.039e-05	0.0005	0.0064	0.0014	0.0016	0.0034	0.0016	0.0016	0.0015	0.0016	0.0036	0.0014	0.0013	0.0028	0.0026	0.0002	0	0.0036	0	0.0002	0.0011	0.0034	0.0021	0.0033	0.0023	0.101	0.30375	T	0.233	0.24913	T	0.68	0.43309	P	0.026	0.20792	B	0.834603	0.06962	N	1.068040	1	0.08975	N	0.345	0.11182	N	2.19	0.18724	T	-0.04	0.07590	N	0.114	0.10198	-0.9751	0.36104	T	0.006	0.02055	T	10	0.003810972	0.00072	T	0.006211	0.16288	T	0.029	0.06676	.	.	0.380394304726	0.37652	0.33538978486146326	0.33451	0.0357936617355	0.03777	0.261952459812	0.05125	T	0.006929	0.06354	T	-0.628878	0.00097	T	-0.680107	0.06977	T	0.00318161430520586	0.00033	T	0.880112	0.59716	D	0.04825544	0.08380	0.038500525	0.03732	0.04825544	0.08379	0.038500525	0.03731	-4.892	0.36731	T	.	.	0.067	0.03060	B	.;.;.	.;.;.	1.292333	0.16934	12.85	0.8232332630396455	0.14133	0.07407	0.13427	N	AEFBI	0.101250	0.20340	N	-0.95383677188216	0.09607	0.455	-0.976264052836759	0.10320	0.5190062	0.997201536743409	0.35373	0.722319	0.85440	0	0.573888	0.26702	0	0.573888	0.23631	0	0.735409	0.98432	0	.	.	5.93	0.667	0.17076	0.634000	0.24304	1.030000	0.23473	-0.136000	0.12710	0.121000	0.23193	0.050000	0.21810	0.094000	0.17991	0.5443:0.1229:0.221:0.1118	2.396	0.04122	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	1	0	0	0	0.02381	1499.98	33	chr1	99689087	.	C	T	1499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.459;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.598;SOR=0.676	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1514,0,1161	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	0/1:91,43:134:99:.:.:303,0,1755	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	0/1:98,36:134:99:.:.:376,0,3223	6	0	15	0
chr1	99884427	99884427	C	T	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.C2522T:p.S841F	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	4	1493	24	1	0	26	0.00863214	.	.	250055	AGL-related_disorder|Inborn_genetic_diseases|not_specified|Glycogen_storage_disease_type_III|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.377	B	0.269	B	0.000	D	1.000	D	0.805	L	1.48	T	-1.080	T	0.049	T	0.279	3.554	18.12	5.8	2.745	5.609	20.043	0.084	0.0353063885639	0.0025	0.00199681	0.0029	0.0003	0.0015	0.0001	0.0002	0.0040	0.0056	0.0031	0.0025679	397	154602	rs150441555	0.0020	0.0020	0.0019	0.0022	0.0186	0.0020	0.0019	0.0157	0.0147	0.0012	0.0020	0.0150	2.524e-05	0.0003	0.0186	0.0016	0.0036	0.0033	0.0023	0.0023	0.0024	0.0021	0.0036	0.0021	0.0020	0.0028	0.0026	0.0003	0	0.0036	0.0141	0	0.0004	0.0340	0.0027	0.0066	0.0035	0.031	0.46513	D	0.051	0.50809	T	0.26	0.34270	B	0.139	0.39840	B	0.000001	0.62929	D	0.098941	0.999891	0.50595	D	1.15	0.29295	L	1.48	0.31731	T	-2.21	0.49684	N	0.276	0.33578	-1.0804	0.07272	T	0.049	0.20750	T	10	0.010740131	0.00238	T	0.035306	0.56258	D	0.084	0.24469	.	.	0.528160237705	0.52464	0.6871515394653197	0.68655	0.0596318990953	0.06628	0.462177336216	0.33609	T	0.10719	0.41917	T	-0.449639	0.01135	T	-0.422017	0.30845	T	0.0303424716408463	0.02043	T	0.974503	0.90930	D	0.46422943	0.64934	0.5469604	0.73811	0.5126768	0.67836	0.5123905	0.71824	-7.352	0.57674	T	0.30378784481655136	0.40131	0.209	0.50287	B	.;.;.;.;.	.;.;.;.;.	4.064347	0.60343	24.2	0.99640421921869393	0.76633	0.99209	0.92840	D	AEFBI	0.640365	0.61808	D	0.242698005705764	0.53278	3.497486	0.408699092796405	0.62105	4.420588	0.999999840276989	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	5.685000	0.67865	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.043	0.97596	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1981.98	45	chr1	99884427	.	C	T	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.680e-01;DP=964;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-8.400e-01;SOR=0.609	GT:AD:DP:GQ:PL	0/1:72,79:151:99:1996,0,1829	20	0	1	0
chr1	100107719	100107723	TGATA	-	splicing	SASS6	.	.	.	.	.	635	880	7	0	0	7	0.00396152	.	.	1859379	Microcephaly_14,_primary,_autosomal_recessive|Inborn_genetic_diseases	MONDO:MONDO:0014623,MedGen:C4225338,OMIM:616402,Orphanet:2512|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	8.848e-05	0	0	0.0002	0.0023	0.0015	0.0002587	40	154602	rs776645730	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0014	0.0013	0	0.0001	0.0002	0	0	0.0021	6.582e-05	0.0004	0.0017	0.0001	0.0001	5.144e-05	0.0002	0.0019	7.091e-05	5.747e-05	0.0010	0.0007	0	0	0	0	0	0	0	0.0001	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1083.94	36	chr1	100107718	.	CTGATA	C	1083.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=788;ExcessHet=0.0000;FS=1.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-4.800e-02;SOR=0.711	GT:AD:DP:GQ:PL	0/1:54,30:84:99:1098,0,2177	20	0	1	0
chr1	100216031	100216031	A	G	exonic	DBT	.	nonsynonymous SNV	DBT:NM_001918:exon6:c.T724C:p.S242P,	Maple syrup urine disease, type II, Autosomal recessive	YES	0	1500	20	2	0	24	0.00793651	.	.	99913	not_provided|not_specified|Maple_syrup_urine_disease|Maple_syrup_urine_disease_type_1A	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.001	B	0.003	B	0.233	N	1.000	N	0.55	N	1.5	T	-0.948	T	0.015	T	0.064	0.969	8.956	0.236	-0.140	1.370	8.600	0.026	.	0.0072	0.00339457	0.0096	0.0012	0.0039	0.0001	0.0085	0.0148	0.0154	0.0028	0.0092302	1427	154602	rs146249007	0.0096	0.0096	0.0095	0.0097	0.0110	0.0094	0.0094	0.0108	0.0108	0.0013	0.0051	0.0078	5.041e-05	0.0089	0.0087	0.0110	0.0087	0.0030	0.0084	0.0084	0.0088	0.0081	0.0134	0.0080	0.0079	0.0126	0.0123	0.0018	0	0.0100	0.0075	0	0.0080	0.0034	0.0134	0.0099	0.0023	0.327	0.16466	T	0.261	0.22962	T	.	.	.	.	.	.	0.233402	0.15869	N	0.655427	0.999999	0.08975	N	.	.	.	1.5	0.31987	T	0.0	0.08495	N	0.252	0.28498	-0.9484	0.41245	T	0.015	0.05994	T	10	0.0040974617	0.00080	T	.	.	.	0.026	0.05648	.	.	0.18274738541	0.17906	0.5375995511524111	0.53684	0.534135777531	0.50832	0.360091269016	0.19399	T	.	.	.	-0.632211	0.00093	T	-0.664648	0.07957	T	0.000309917408977404	0.00003	T	0.59724	0.22223	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.01011	B	.;.	.;.	0.930296	0.13055	9.559	0.84317567664795934	0.15221	0.34859	0.25166	N	AEFDBI	0.088245	0.17890	N	-1.03815179980117	0.07821	0.3646864	-0.990087816733431	0.10007	0.5013103	0.00160025830155342	0.08681	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.66	0.236	0.14733	0.899000	0.28049	3.854000	0.40103	-0.103000	0.15852	0.456000	0.26612	0.999000	0.35428	0.019000	0.11356	0.3275:0.4528:0.0:0.2197	8.600	0.32902	527	0.73864	.;.	SASS6|AGL|SASS6	Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	SLC35A3|SLC35A3|SASS6|SLC35A3|SLC35A3|SLC35A3|SLC35A3	Adipose_Subcutaneous|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs146249007	Likely benign	0	0	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	767.98	33	chr1	100216031	.	A	G	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.933e+00;DP=754;ExcessHet=0.0000;FS=3.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.611;SOR=0.309	GT:AD:DP:GQ:PL	0/1:25,32:57:99:782,0,686	20	0	1	0
chr1	109092956	109092956	A	C	exonic	TMEM167B	.	nonsynonymous SNV	TMEM167B:NM_001322248:exon2:c.A77C:p.K26T	.	.	425	1089	8	0	0	8	0.00365965	.	.	2679106	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.669	P	0.355	B	0.000	U	1.000	D	.	.	.	.	-1.014	T	0.099	T	0.771	4.212	21.9	5.63	2.134	8.222	13.800	0.262	0.023389137893	7.7e-05	.	9.06e-05	9.61e-05	0	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs149500592	8.209e-05	8.209e-05	4.764e-05	0.0001	0.0008	7.002e-05	6.552e-05	0.0006	0.0006	0	0	0	0	0	0.0005	4.137e-05	4.967e-05	0.0008	3.944e-05	3.94e-05	5.14e-05	2.691e-05	7.349e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.415e-05	0	0	0	0	0	0	7.349e-05	0	0	0.055	0.38407	T	0.105	0.38016	T	0.669	0.41149	P	0.355	0.42984	B	0.000001	0.62929	U	0.000000	0.99951	0.47363	D	.	.	.	.	.	.	-2.86	0.60188	D	0.707	0.71055	-1.0136	0.25784	T	0.099	0.36805	T	8	0.38210648	0.54271	T	0.023389	0.46348	T	0.262	0.57482	.	.	0.281547015583	0.27767	0.9732073783109457	0.97309	1.13977541105	0.78881	0.828316509724	0.86305	D	0.116249	0.43545	T	0.00982123	0.53001	T	0.119062	0.78173	D	0.249846864723333	0.22866	T	0.952205	0.81731	D	0.3905611	0.60072	0.27495378	0.53428	0.3905611	0.60072	0.27495378	0.53427	-3.615	0.18074	T	.	.	0.792	0.76910	P	.	.	4.153158	0.62308	24.4	0.9976477748342184	0.85335	0.97103	0.72707	D	AEFBI	0.848980	0.76580	D	0.378853499870447	0.60276	4.214978	0.482948838849808	0.66861	5.007417	0.999999999993897	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.644132	0.48003	0	0.735409	0.98432	0	.	.	5.63	5.63	0.86108	8.425000	0.90138	11.176000	0.88137	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.800	0.62682	720	0.55521	.	.	.	.	.	.	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	2959.11	35	chr1	109092956	.	A	C	2959.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=930;ExcessHet=0.1072;FS=1.433;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.318;SOR=0.652	GT:AD:DP:GQ:PL	0/1:85,64:149:99:1412,0,1873	19	0	2	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	1/1:0,43,0:43:99:1893,129,0,1893,129,1893	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	1/1:0,43,0:43:99:1893,129,0,1893,129,1893	1	11	8	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,32:137:99:0|1:110222977_C_G:244,0,3736:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,32:140:99:0|1:110222977_C_G:235,0,3816:110222977	12	0	8	1
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	.	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.0	B	0.495	N	1.000	N	0	N	2.2	T	-0.929	T	0.009	T	0.077	0.789	8.160	0.956	0.026	0.865	8.347	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	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	1843.98	39	chr1	110341408	.	C	T	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.509e+00;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=0.184;SOR=0.666	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1858,0,2024	20	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:89,21,2:112:99:112,0,1882,328,1900,2259	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:89,21,2:112:99:112,0,1882,328,1900,2259	12	0	8	0
chr1	114686902	114686902	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon3:c.G311A:p.R104H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	.	1	1450	69	2	0	73	0.0245543	.	.	177319	not_specified|AMPD1-related_disorder|not_provided|Muscle_AMP_deaminase_deficiency	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.12	T	0.99	D	0.583	P	0.002	U	0.988	D	1.95	M	0.97	T	-0.999	T	0.109	T	0.294	2.598	14.65	4.5	1.286	2.198	12.292	0.093	.	0.0029	0.00479233	0.0051	0.0016	0.0036	0.0003	0.0005	0.0051	0.0132	0.0121	0.00478	739	154602	rs61738827	0.0038	0.0038	0.0034	0.0042	0.0165	0.0037	0.0037	0.0138	0.0128	0.0010	0.0032	0.0231	0.0001	0.0005	0.0165	0.0030	0.0054	0.0121	0.0036	0.0036	0.0034	0.0037	0.0145	0.0033	0.0032	0.0118	0.0108	0.0010	0.0011	0.0043	0.0239	0	0.0002	0.0136	0.0038	0.0095	0.0145	0.028	0.47320	D	0.109	0.37872	T	.	.	.	.	.	.	0.002416	0.00885	U	11.368800	0.987684	0.40632	D	2.045	0.56016	M	0.97	0.42502	T	-0.15	0.09796	N	0.289	0.32921	-0.9990	0.30199	T	0.109	0.39509	T	10	0.0043738484	0.00089	T	.	.	.	0.093	0.26882	.	.	0.71889551114	0.71642	0.3105258791752021	0.30965	0.105181179434	0.11892	0.356991648674	0.18946	T	0.368652	0.73350	T	-0.485421	0.00689	T	-0.459019	0.26707	T	0.0192262107775266	0.00628	T	0.70223	0.31206	T	0.08808499	0.20535	0.06575114	0.13373	0.099119626	0.23387	0.07012084	0.14860	-4.017	0.24072	T	.	.	0.099	0.21428	B	.;.	.;.	2.835667	0.37399	20.5	0.99748629097363373	0.84077	0.92457	0.55756	D	AEFBI	0.120830	0.23519	N	0.219453574693732	0.52143	3.390361	0.254924878545914	0.52931	3.464669	0.0102450568174137	0.11992	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	4.5	0.54382	2.272000	0.43032	1.774000	0.28659	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.997000	0.79791	0.0:0.9199:0.0:0.0801	12.292	0.54142	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2251.11	35	chr1	114686902	.	C	T	2251.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.23;DP=879;ExcessHet=0.1072;FS=4.200;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.572;SOR=0.986	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1132,0,1062	19	0	2	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	0/1:93,66:165:99:678,0,987	0	0	21	0
chr1	145673800	145673800	T	G	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201326:exon5:c.A739C:p.T247P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.125	N	0.984	N	-1.95	N	2.36	T	-0.939	T	0.003	T	0.066	-2.234	0.005	3.37	1.291	1.511	10.565	0.098	0.00245089654178	.	.	.	.	.	.	.	.	.	.	.	.	.	rs137949277	0.0006	0.0006	0.0007	0.0005	0.0187	0.0005	0.0005	0.0174	0.0170	0.0187	0.0011	0.0007	0	0	0.0012	4.318e-05	0.0013	3.482e-05	0.0053	0.0053	0.0054	0.0051	0.0183	0.0050	0.0048	0.0172	0.0168	0.0183	0	0.0018	0.0003	0	0	0.0034	4.415e-05	0.0052	0	0.271	0.15984	T	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.36	0.16089	T	0.37	0.03639	N	0.056	0.02759	.	.	.	.	.	.	.	0.008852422	0.00200	T	.	.	.	.	.	.	.	.	.	0.4477185568517741	0.44689	.	.	.	.	.	0.079262	0.36088	T	.	.	.	.	.	.	.	.	.	0.509249	0.17252	T	.	.	.	.	.	.	.	.	-2.873	0.08876	T	.	.	0.057	0.00514	B	.;.;.	.;.;.	1.255094	0.16525	12.59	.	.	.	.	.	.	0.456537	0.50836	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.894000	0.27983	0.444000	0.18454	-0.849000	0.02733	0.775000	0.29414	0.000000	0.08366	0.584000	0.30992	.	.	.	272	0.89337	.;.;.	.	.	.	.	.	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	499.98	33	chr1	145673800	.	T	G	499.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.161;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.74;MQRankSum=-2.176e+00;QD=5.56;ReadPosRankSum=0.272;SOR=0.729	GT:AD:DP:GQ:PL	0/1:61,29:90:99:514,0,1361	20	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,27:135:99:0|1:145872713_C_G:171,0,3205:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,27:135:99:0|1:145872713_C_G:171,0,3205:145872713	6	0	14	1
chr1	146069632	146069632	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.G10214A:p.C3405Y	.	.	435	1084	2	0	1	3	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	.	.	.	.	.	.	1.000	N	0.205	N	3.29	T	-0.925	T	0.003	T	0.057	-2.482	0.003	-1.31	-1.035	-0.321	5.020	0.019	0.000460893155156	.	.	8.675e-06	0	8.895e-05	0	0	0	0	0	.	.	.	rs587652859	3.55e-05	4.037e-05	2.912e-05	4.193e-05	0.0010	2.744e-05	2.481e-05	0.0003	0.0002	0	0	3.88e-05	0	0	0.0010	2.471e-05	6.774e-05	0.0002	3.955e-05	3.983e-05	4.606e-05	3.263e-05	8.61e-05	1.556e-05	9.4e-06	3.342e-05	2.124e-05	0	0	0	0	0	0	0	8.61e-05	0	0	.	.	.	0.156	0.31833	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.20262	.	.	.	.	.	.	.	0.10535896	0.19471	T	.	.	.	.	.	.	.	.	.	0.009178284301519223	0.00880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645335	0.25688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.64173	B	.;.	.;.	-1.106630	0.00632	0.017	.	.	.	.	.	.	0.020549	0.00823	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.334000	0.01187	-20.000000	0.00162	-2.799000	0.00185	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	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	0	0	0	0	0.02381	1811.98	102	chr1	146069632	.	C	T	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=1518;ExcessHet=0.0000;FS=5.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.39;MQRankSum=3.30;QD=7.11;ReadPosRankSum=0.783;SOR=1.046	GT:AD:DP:GQ:PL	0/1:166,89:255:99:1826,0,3955	20	0	1	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	0/1:623,103:726:99:733,0,16050	1	0	20	0
chr1	150553740	150553740	G	A	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.G749A:p.R250Q	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	277172	not_provided|Inborn_genetic_diseases|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.66	T	0.003	B	0.001	B	.	.	1.000	N	0	N	0.46	T	-0.969	T	0.029	T	0.037	0.013	4.083	-2.09	-0.169	-0.058	9.561	0.036	0.00702192640697	0.0004	.	0.0003	0	0.0002	0	0	0.0006	0	6.06e-05	0.000304	47	154602	rs145673891	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0004	2.987e-05	0.0007	0.0065	0	0	0.0003	0.0001	0.0005	3.478e-05	0.0005	0.0005	0.0005	0.0005	0.0026	0.0004	0.0004	0.0019	0.0017	2.46e-05	0	0.0026	0.0084	0	0	0	7.399e-05	0	0	0.843	0.04699	T	0.669	0.06836	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	0.17	0.60485	T	0.47	0.03297	N	0.054	0.02559	-0.9685	0.37510	T	0.029	0.12234	T	9	0.004232824	0.00085	T	0.007022	0.18594	T	0.036	0.09122	.	.	0.391930172978	0.38808	0.09893298444509327	0.09824	0.139450407887	0.15718	0.210682630539	0.00840	T	0.002107	0.01509	T	-0.611793	0.00124	T	-0.726988	0.04466	T	0.00378264534191721	0.00040	T	0.60384	0.22664	T	0.015131475	0.00124	0.031480342	0.01744	0.015131475	0.00124	0.031480342	0.01744	-4.347	0.31123	T	0.05814621507014385	0.01456	0.061	0.02639	B	.;.;.;.	.;.;.;.	-0.098849	0.03647	0.728	0.46224246337830405	0.03686	0.02550	0.07077	N	AEFDBCI	0.030691	0.03138	N	-1.68947305197247	0.00880	0.03806895	-1.68669727650715	0.01197	0.05389348	0.999998883111714	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.16	-2.09	0.06831	-0.728000	0.05029	0.010000	0.13426	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3688:0.0:0.6312:0.0	9.561	0.38534	114	0.95383	.;.;.;.	.	.	.	.	.	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	1995.98	90	chr1	150553740	.	G	A	1995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1489;ExcessHet=0.0000;FS=3.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=-2.266e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/1:54,73:127:99:2010,0,1248	20	0	1	0
chr1	151242225	151242225	G	C	exonic	PIP5K1A	.	nonsynonymous SNV	PIP5K1A:NM_001135636:exon11:c.G1346C:p.G449A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.098	B	0.075	B	0.274	U	1.000	D	2.015	M	1.82	T	-1.108	T	0.038	T	0.367	1.339	10.40	4.39	2.453	5.825	9.982	0.081	0.00562898346231	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1358672146	2.052e-06	2.052e-06	0	4.125e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.10588	T	0.718	0.05452	T	0.013	0.25584	B	0.011	0.28327	B	0.273720	0.15078	U	0.504336	1	0.81001	D	1.39	0.34934	L	1.82	0.30133	T	-0.27	0.11366	N	0.248	0.28616	-1.1076	0.03284	T	0.038	0.16376	T	10	0.17105553	0.31804	T	0.005629	0.14560	T	0.081	0.23632	0.208	0.12497	0.72112745763	0.71867	0.18776267043273245	0.18694	0.195110510202	0.21846	0.483822017908	0.36582	T	0.007	0.40145	T	-0.172736	0.24822	T	-0.403035	0.33030	T	0.273770064115524	0.23908	T	0.875412	0.61653	D	0.03540485	0.04159	0.06997836	0.14811	0.03540485	0.04159	0.06997836	0.14810	-2.673	0.08529	T	.	.	0.082	0.11989	B	.;.;.;.	.;.;.;.	3.173227	0.43041	21.7	0.93872280804592267	0.23884	0.96368	0.68797	D	AEFGBI	0.531783	0.55192	D	-0.00140177494393713	0.41791	2.506138	0.138534277408335	0.46537	2.898141	0.217572456814553	0.18316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	6.413000	0.73226	9.843000	0.81937	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7981:0.2019	9.982	0.40992	102	0.95784	.;.;.;.	.	.	.	.	.	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	1829.98	36	chr1	151242225	.	G	C	1829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.329e+00;DP=960;ExcessHet=0.0000;FS=0.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-1.184e+00;SOR=0.777	GT:AD:DP:GQ:PL	0/1:102,80:182:99:1844,0,2794	20	0	1	0
chr1	152110285	152110285	G	A	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.C2932T:p.P978S,	.	.	395	1124	3	0	0	3	0.00133274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.002	B	0.004	B	.	.	1.000	N	0	N	3.32	T	-0.911	T	0.003	T	0.157	0.527	6.853	0.644	0.123	-0.049	5.584	0.009	0.00121969976179	0.0006	0.00159744	0.0009	0	0.0007	0.0001	0	0.0012	0.0033	0.0013	0.0008279	128	154602	rs144030050	0.0007	0.0007	0.0007	0.0007	0.0030	0.0007	0.0006	0.0019	0.0015	5.998e-05	0.0010	0.0113	0	0	0.0030	0.0004	0.0017	0.0008	0.0009	0.0009	0.0008	0.0009	0.0023	0.0007	0.0007	0.0017	0.0015	4.946e-05	0	0.0023	0.0133	0.0002	0	0.0035	0.0005	0.0024	0.0015	0.02	0.49613	D	0.207	0.26969	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.32	0.06214	T	0.34	0.03824	N	0.124	0.11626	-0.9110	0.46732	T	0.003	0.00832	T	9	0.003262043	0.00056	T	0.00122	0.01608	T	0.009	0.00846	.	.	0.279370189704	0.27548	0.01310820703252027	0.01268	0.26868674241	0.29385	0.229409307241	0.01925	T	0.002742	0.02136	T	-0.584812	0.00180	T	-0.673417	0.07391	T	0.00821694931801731	0.00098	T	0.229177	0.03066	T	0.031220032	0.02922	0.05217873	0.08547	0.031220032	0.02922	0.05217873	0.08546	-4.894	0.35667	T	.	.	0.318	0.54324	B	.;.	.;.	0.675945	0.10444	7.164	0.68378226156136535	0.08640	0.06123	0.12101	N	AEFBHCI	0.053112	0.09541	N	-1.20434263500344	0.04935	0.2238635	-1.22444315082256	0.05519	0.2632011	0.998290542279174	0.36710	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.603991	0.37454	0	.	.	2.83	0.644	0.16948	-0.623000	0.05643	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.1325:0.1993:0.6682:0.0	5.584	0.16548	479	0.77495	.;.	.	.	.	.	.	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	2086.98	66	chr1	152110285	.	G	A	2086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.470e-01;DP=1705;ExcessHet=0.0000;FS=2.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.63;SOR=0.502	GT:AD:DP:GQ:PL	0/1:90,84:174:99:2101,0,2371	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|2:158,0,15:173:99:0|1:152214821_T_A:128,603,7206,0,6603,6558:152214821	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|2:158,0,15:173:99:0|1:152214821_T_A:128,603,7206,0,6603,6558:152214821	8	0	3	0
chr1	152217506	152217506	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T4123C:p.Y1375H,	.	.	1144	376	0	2	0	4	0.00529101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.03	B	0.005	B	.	.	1.000	N	-1.245	N	3.81	T	-0.910	T	0.001	T	0.243	0.474	6.571	-6.98	-1.668	-2.067	1.705	0.018	0.00173056149379	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1309534987	0.0011	0.0054	0.0013	0.0008	0.0069	0.0008	0.0007	0.0013	0.0010	0	0.0027	0	0.0016	0	0.0069	0.0014	0	0.0025	0	0.0039	0	0	.	0	0	.	.	0	.	0	.	.	.	.	0	0	0	0.05	0.39575	D	0.633	0.07127	T	0.03	0.20002	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	3.81	0.03754	T	0.21	0.04776	N	0.146	0.14763	-0.9104	0.46805	T	0.001	0.00318	T	9	0.050194085	0.04716	T	0.001731	0.02908	T	0.018	0.03083	0.229	0.15556	0.267299060538	0.26338	0.04758130645969206	0.04701	.	.	0.516538083553	0.41139	T	0.015148	0.12759	T	-0.280112	0.10656	T	-0.640138	0.09659	T	0.0469758134912459	0.04960	T	0.285271	0.05070	T	0.03716449	0.04714	0.03682694	0.03208	0.03716449	0.04713	0.03682694	0.03208	-6.239	0.48237	T	.	.	0.254	0.48827	B	.	.	0.175161	0.05637	2.086	0.36949164820005748	0.02406	0.01097	0.04030	N	AEFI	0.038503	0.05457	N	-1.8575146582502	0.00419	0.01802566	-1.90394947169819	0.00481	0.02130543	0.0101384164433719	0.11972	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.49	-6.98	0.01454	-0.428000	0.07059	.	.	-0.291000	0.06292	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2856:0.2579:0.3295:0.1271	1.705	0.02706	569	0.70546	.	.	.	.	.	.	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	0.09091	53.87	1	chr1	152217506	.	A	G	53.87	.	AC=2;AF=0.091;AN=22;DP=19;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2431;MLEAC=2;MLEAF=0.091;MQ=25.00;QD=26.93;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:152217506_A_G:64,6,0:152217506	10	1	0	10
chr1	152306323	152306323	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G8563C:p.G2855R,	Ichthyosis vulgaris, Autosomal dominant	YES	0	1513	9	0	0	9	0.0029654	.	.	2360180	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.87	P	0.753	P	.	.	1.000	N	1.6	L	3.17	T	-0.985	T	0.014	T	0.206	0.981	9.006	1.03	-0.016	1.059	5.356	0.103	0.00746531922885	0.0002	0.000998403	0.0005	0	0.0004	0	0	0.0004	0.0022	0.0015	0.0004075	63	154602	rs373833125	0.0002	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	3.335e-05	0.0003	0	0	0	0.0023	0.0002	0.0006	0.0009	0.0003	0.0004	0.0003	0.0003	0.0010	0.0002	0.0002	0.0006	0.0004	2.934e-05	0	0.0009	0	0.0002	0	0.0034	0.0003	0.0010	0.0010	0.041	0.41915	D	.	.	.	0.87	0.47827	P	0.753	0.56122	P	.	.	.	.	1	0.08975	N	1.935	0.51832	L	3.17	0.07599	T	-0.24	0.10833	N	0.137	0.13484	-0.9845	0.33951	T	0.014	0.05369	T	9	0.010484487	0.00233	T	0.007465	0.19792	T	0.103	0.29403	0.637	0.77361	0.250579442822	0.24687	0.03192658727628576	0.03140	.	.	0.28669667244	0.08443	T	0.009238	0.08422	T	-0.554937	0.00272	T	-0.638727	0.09762	T	0.0435213031315912	0.04333	T	0.40156	0.10241	T	0.07462287	0.16760	0.084656484	0.19490	0.07462287	0.16759	0.084656484	0.19489	-7.013	0.54129	T	.	.	0.274	0.50790	B	.	.	0.578062	0.09464	6.244	0.92545119571005874	0.21993	0.03607	0.08838	N	AEFI	0.042527	0.06610	N	-0.520610287970705	0.21414	1.136289	-0.746298472828468	0.15813	0.8335285	1.36427774763999E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.02	1.03	0.19161	-0.040000	0.12056	.	.	0.418000	0.20770	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.7013:0.0:0.2987	5.356	0.15365	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	0.02381	5812.98	73	chr1	152306323	.	C	G	5812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e+00;DP=11882;ExcessHet=0.0000;FS=1.212;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.85;MQRankSum=-2.260e-01;QD=6.05;ReadPosRankSum=0.509;SOR=0.800	GT:AD:DP:GQ:PL	0/1:678,283:961:99:5827,0,18786	20	0	1	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	0/1:7,24,0,0:31:99:982,0,227,1008,299,1307,1008,299,1307,1307	3	4	8	2
chr1	153346191	153346191	C	A	exonic	PGLYRP4	.	nonsynonymous SNV	PGLYRP4:NM_020393:exon3:c.G50T:p.G17V,	.	.	.	.	.	.	.	.	.	0.9495	0.66	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.933	P	0.75	P	.	.	1.000	N	0	N	3.38	T	-0.958	T	0.007	T	0.206	2.561	14.52	1.32	0.364	0.316	4.757	0.092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.89	0.52105	P	0.443	0.56031	B	.	.	.	.	0.999997	0.08975	N	2.24	0.63355	M	3.38	0.05918	T	-1.59	0.43334	N	0.44	0.53181	-0.9575	0.39644	T	0.007	0.02244	T	9	0.3783845	0.54007	T	0.005607	0.14500	T	0.092	0.26621	0.576	0.70087	0.356072328145	0.35220	0.319902617854372	0.31903	0.227419575633	0.25295	0.339881956577	0.16420	T	0.109712	0.42382	T	-0.257121	0.13238	T	-0.607113	0.12220	T	0.684814810752869	0.40009	D	0.515049	0.16594	T	0.070537165	0.15545	0.084015526	0.19296	0.070537165	0.15544	0.084015526	0.19295	-7.132	0.55295	T	.	.	0.126	0.27373	B	.;.	.;.	2.565877	0.33239	19.28	0.98359968429785083	0.40638	0.13007	0.17609	N	AEFDBHCI	0.071474	0.14229	N	-0.6486981116427	0.17498	0.9009385	-0.760499699692567	0.15465	0.8134697	0.999637591754258	0.41205	0.487112	0.14033	0	0.518115	0.08659	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.25	1.32	0.20897	0.097000	0.15007	0.494000	0.18929	-0.174000	0.10959	0.072000	0.22128	0.128000	0.22971	0.026000	0.12556	0.0:0.6532:0.2213:0.1255	4.757	0.12464	826	0.39940	.;.	.	.	.	.	.	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	1567.98	38	chr1	153346191	.	C	A	1567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.088;DP=842;ExcessHet=0.0000;FS=3.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=1.16;SOR=0.452	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1582,0,1612	20	0	1	0
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	0/1:117,43:160:29:29,0,2206	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	2/4:0,0,22,0,19,0,0:44:99:2026,1787,1769,826,810,742,1787,1769,810,1769,911,895,0,895,822,1787,1769,810,1769,895,1769,1787,1769,810,1769,895,1769,1769	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	2/4:0,0,22,0,19,0,0:44:99:2026,1787,1769,826,810,742,1787,1769,810,1769,911,895,0,895,822,1787,1769,810,1769,895,1769,1787,1769,810,1769,895,1769,1769	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	2/4:0,0,22,0,19,0,0:44:99:2026,1787,1769,826,810,742,1787,1769,810,1769,911,895,0,895,822,1787,1769,810,1769,895,1769,1787,1769,810,1769,895,1769,1769	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	2/4:0,0,22,0,19,0,0:44:99:2026,1787,1769,826,810,742,1787,1769,810,1769,911,895,0,895,822,1787,1769,810,1769,895,1769,1787,1769,810,1769,895,1769,1769	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	2/4:0,0,22,0,19,0,0:44:99:2026,1787,1769,826,810,742,1787,1769,810,1769,911,895,0,895,822,1787,1769,810,1769,895,1769,1787,1769,810,1769,895,1769,1769	0	1	0	0
chr1	155030462	155030462	G	A	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon6:c.C989T:p.T330M,	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.066	B	0.004	B	0.063	N	1.000	N	0.55	N	1.89	T	-0.993	T	0.013	T	0.162	0.021	4.121	4.19	0.885	0.004	6.587	0.076	0.00494578456474	7.7e-05	.	0.0002	0	8.75e-05	0.0006	0	0.0002	0	0.0001	0.0001423	22	154602	rs199920613	7.73e-05	7.73e-05	6.534e-05	8.939e-05	0.0014	6.533e-05	6.136e-05	0.0007	0.0005	0	0	3.826e-05	0.0003	0	0.0014	4.406e-05	0.0003	0.0003	5.918e-05	5.911e-05	5.141e-05	6.731e-05	0.0010	3.079e-05	2.211e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	5.881e-05	0	0	0.266	0.16251	T	0.228	0.25286	T	0.066	0.23586	B	0.004	0.10090	B	0.062950	0.22060	N	0.433503	1	0.08975	N	0.68	0.16426	N	1.84	0.24656	T	-0.94	0.25118	N	0.34	0.38129	-0.9925	0.31959	T	0.013	0.05129	T	10	0.033588797	0.01539	T	0.004946	0.12442	T	0.076	0.22200	.	.	0.0716867268079	0.06686	0.3041859152448464	0.30331	0.078622320537	0.08843	0.309993207455	0.11906	T	0.034127	0.23198	T	-0.509299	0.00507	T	-0.612972	0.11744	T	0.00937517633725064	0.00120	T	0.59994	0.22366	T	0.020356834	0.00591	0.050802935	0.08046	0.020356834	0.00591	0.050802935	0.08045	-5.004	0.36883	T	.	.	0.083	0.09143	B	.	.	1.266850	0.16649	12.68	0.6982955638713354	0.09098	0.11459	0.16648	N	AEFGBCI	0.088727	0.17986	N	-0.711823890731682	0.15689	0.7928551	-0.646898055984518	0.18295	0.9766997	0.11550978613625	0.16757	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.24	4.19	0.48645	0.074000	0.14525	0.931000	0.22780	0.676000	0.76740	0.000000	0.06391	0.205000	0.23600	0.457000	0.28051	0.1895:0.0:0.8105:0.0	6.587	0.21819	258	0.89879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	725.98	36	chr1	155030462	.	G	A	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=772;ExcessHet=0.0000;FS=1.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-3.980e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:31,27:58:99:740,0,744	20	0	1	0
chr1	155925716	155925716	T	C	exonic	KHDC4	.	nonsynonymous SNV	KHDC4:NM_014949:exon7:c.A809G:p.K270R,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.921	P	0.849	P	0.000	D	1.000	D	0.79	N	0.92	T	-1.063	T	0.091	T	0.903	4.421	23.5	5.82	2.221	7.694	15.842	0.288	0.0113262767226	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242900718	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.17	0.30436	T	0.048	0.51088	B	0.078	0.60615	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.92	0.44461	T	-0.67	0.21429	N	0.767	0.76481	-1.0627	0.11093	T	0.091	0.34901	T	10	0.47397068	0.60031	T	0.011326	0.28845	T	0.288	0.60691	0.377	0.39156	0.694625678026	0.69199	0.7761950758471396	0.77569	1.00100662246	0.74402	0.779058158398	0.78785	T	0.092	0.38954	T	0.0861341	0.62751	D	0.0550774	0.73918	D	0.549800495838612	0.34470	D	0.927407	0.73262	D	0.21434891	0.43839	0.19034882	0.42432	0.21434891	0.43838	0.19034882	0.42431	-4.676	0.43889	T	.	.	0.169	0.38747	B	.;.;.	.;.;.	3.684836	0.52465	23.2	0.99857249666015868	0.93639	0.98805	0.87082	D	AEFDGBI	0.886207	0.81740	D	0.187114982737349	0.50579	3.246657	0.359386689858783	0.59076	4.08239	0.99999999999672	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.82	5.82	0.92740	7.670000	0.82907	7.817000	0.69620	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.842	0.78635	75	0.96833	.;.;.	.	.	.	.	.	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	2366.98	37	chr1	155925716	.	T	C	2366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.640e-01;DP=922;ExcessHet=0.0000;FS=4.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-5.460e-01;SOR=0.451	GT:AD:DP:GQ:PL	0/1:114,92:206:99:2381,0,3128	20	0	1	0
chr1	156815838	156815838	G	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001007792:exon1:c.G9C:p.E3D,	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0003	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.004	B	.	.	1.000	N	0	N	-0.97	T	-0.994	T	0.083	T	0.07	2.192	13.29	2.36	0.744	0.242	6.516	0.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	0.0001	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	-0.97	0.75670	T	-0.05	0.07736	N	0.05	0.02179	-0.9939	0.31591	T	0.083	0.32499	T	9	0.082740545	0.13688	T	0.007492	0.19872	T	0.177	0.44549	0.115	0.02372	0.51372946856	0.51013	.	.	.	.	.	.	.	.	.	.	-0.1645	0.26071	T	-0.474069	0.25079	T	0.22831466794014	0.21871	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.709	0.19451	T	.	.	.	.	.	.	.	1.156672	0.15452	11.86	0.96680647164573041	0.30697	0.17383	0.19813	N	AEFGBCI	0.071145	0.14151	N	-0.913840955761567	0.10517	0.5029817	-0.907916361291049	0.11907	0.6094711	0.999995659671766	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.616487	0.41570	0	0.635259	0.50027	0	.	.	4.23	2.36	0.28258	0.251000	0.18025	0.143000	0.15197	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.2157:0.0:0.7843:0.0	6.516	0.21443	721	0.55360	.	.	.	.	.	.	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	0.09524	470.92	92	chr1	156815838	.	G	C	470.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.519e+00;DP=2320;ExcessHet=0.6776;FS=154.586;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.85;ReadPosRankSum=1.30;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,20:130:99:.:.:117,0,3222	17	0	4	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,32:131:99:.:.:212,0,3166	12	0	8	1
chr1	158256900	158256900	G	A	exonic	CD1A	.	nonsynonymous SNV	CD1A:NM_001320652:exon4:c.G686A:p.G229D	.	.	401	1113	8	0	0	8	0.00358102	.	.	718289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.374	B	0.157	B	0.851	N	1.000	N	1.455	L	4.38	T	-0.915	T	0.003	T	0.327	0.916	8.730	0.886	0.382	0.924	5.824	0.037	0.00551610757983	0.0025	0.00119808	0.0027	0.0008	0.0017	0	0.0002	0.0041	0.0011	0.0016	0.0028978	448	154602	rs141060322	0.0038	0.0038	0.0037	0.0038	0.0056	0.0037	0.0036	0.0042	0.0042	0.0010	0.0027	0.0060	0	0.0008	0.0056	0.0043	0.0037	0.0014	0.0028	0.0028	0.0029	0.0027	0.0045	0.0026	0.0025	0.0041	0.0039	0.0007	0	0.0032	0.0055	0	0.0004	0.0068	0.0045	0.0033	0.0017	0.041	0.41915	D	0.028	0.54934	D	0.374	0.34192	B	0.157	0.34536	B	0.850774	0.08964	N	0.916621	1	0.08975	N	0.775	0.19437	N	4.38	0.02255	T	-5.53	0.86073	D	0.199	0.21969	-0.9151	0.46207	T	0.003	0.00994	T	10	0.008817434	0.00200	T	0.005516	0.14197	T	0.037	0.09474	.	.	0.246215685461	0.24236	0.5252002769740619	0.52444	0.204350460978	0.22859	0.295900523663	0.09792	T	0.210616	0.57116	T	-0.542458	0.00324	T	-0.547134	0.17601	T	0.0465838566662096	0.04890	T	0.645335	0.25688	T	0.28336895	0.51369	0.27650347	0.53595	0.28336895	0.51369	0.27650347	0.53594	-9.985	0.73822	D	.	.	0.15	0.33156	B	.	.	2.263302	0.28925	17.96	0.93506498802727323	0.23316	0.01212	0.04309	N	AEFI	0.025633	0.01789	N	-0.818445059053981	0.12839	0.6284719	-0.886663445607987	0.12409	0.6381499	0.997338092546843	0.35509	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	0.886	0.18329	0.888000	0.27904	2.057000	0.30374	0.593000	0.32247	0.919000	0.31930	0.108000	0.22760	0.492000	0.28837	0.3529:0.0:0.6471:0.0	5.824	0.17796	878	0.29785	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	3839.98	42	chr1	158256900	.	G	A	3839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.380e-01;DP=1130;ExcessHet=0.0000;FS=3.665;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.176e+00;SOR=0.521	GT:AD:DP:GQ:PL	0/1:157,158:315:99:3854,0,3873	20	0	1	0
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	0/1:178,64:242:99:495,0,3569	5	0	16	0
chr1	164849380	164849380	G	A	exonic	PBX1	.	nonsynonymous SNV	PBX1:NM_001204963:exon9:c.G1241A:p.R414Q,	Leukemia, acute pre-B-cell	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.893	P	0.417	B	.	.	.	.	0	N	-2.29	D	-0.795	T	0.237	T	0.08	0.590	7.185	0.427	0.458	-0.036	.	0.237	0.0115262147457	.	0.000599042	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs536700162	0.0001	0.0001	0.0001	0.0001	0.0003	9.607e-05	9.086e-05	0.0001	9.8e-05	0	0.0003	0	2.799e-05	2.977e-05	0.0002	0.0001	0.0001	3.786e-05	0.0002	0.0002	0.0002	9.408e-05	0.0003	0.0001	9.702e-05	0.0002	0.0001	4.816e-05	0.0022	0.0003	0	0	0	0	0.0002	0	0	.	.	.	0.589	0.08245	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.142	0.14196	-0.7946	0.55461	T	0.237	0.60439	T	7	0.023901433	0.00640	T	0.011526	0.29247	T	.	.	.	.	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.482734	0.00713	T	-0.639042	0.09738	T	0.0351929863093563	0.02841	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	-2.998	0.10159	T	.	.	0.118	0.24088	B	.	.	0.394639	0.07661	4.330	0.91003240117748285	0.20253	0.02391	0.06784	N	AEFGBI	0.065040	0.12662	N	-0.75796028051058	0.14417	0.7180294	-0.962034699923795	0.10644	0.5374373	0.999949860432622	0.47345	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	0.427	0.427	0.15704	-0.018000	0.12508	0.143000	0.15197	0.509000	0.23192	0.001000	0.13787	0.000000	0.08366	0.012000	0.09680	.	.	.	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	1	0	0	0	0.02381	3325.98	34	chr1	164849380	.	G	A	3325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.920e-01;DP=1026;ExcessHet=0.0000;FS=0.857;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-9.870e-01;SOR=0.771	GT:AD:DP:GQ:PL	0/1:171,144:315:99:3340,0,4035	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|2:0,32,45:77:99:1|0:175160809_TC_T:2834,1785,1716,1047,0,1208:175160809	2	5	6	0
chr1	178514733	178514733	C	T	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_001170722:exon3:c.C148T:p.R50W	.	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.949	P	0.533	P	0.430	N	0.999	N	0.895	L	2.2	T	-1.045	T	0.081	T	0.271	0.994	9.059	1.75	0.513	0.939	9.809	0.057	.	0.0045	0.00399361	0.0060	0.0013	0.0057	0	0.0108	0.0076	0.0070	0.0037	0.0053945	834	154602	rs144999625	0.0062	0.0062	0.0062	0.0062	0.0075	0.0061	0.0060	0.0064	0.0064	0.0007	0.0061	0.0086	7.558e-05	0.0092	0.0075	0.0066	0.0068	0.0033	0.0052	0.0052	0.0049	0.0054	0.0086	0.0049	0.0048	0.0074	0.0070	0.0016	0.0011	0.0086	0.0098	0	0.0091	0.0068	0.0062	0.0090	0.0025	0.04	0.45039	D	0.038	0.53788	D	0.949	0.53761	P	0.431	0.48638	B	0.429817	0.12762	N	0.645994	0.999999	0.22098	N	0	0.06538	N	2.2	0.50192	T	-1.71	0.55339	N	0.214	0.28264	-1.0453	0.15738	T	0.081	0.31913	T	10	0.0052550733	0.00115	T	.	.	.	0.057	0.16321	.	.	0.284150004643	0.28039	0.017887348145770147	0.01743	0.330932626544	0.35172	0.275729805231	0.06904	T	0.019	0.15525	T	-0.522219	0.00427	T	-0.517217	0.20576	T	0.0134876583169153	0.00246	T	0.867113	0.56785	D	0.032599952	0.03316	0.04527947	0.06056	0.032599952	0.03316	0.04527947	0.06056	-5.48	0.41681	T	.	.	0.148	0.33732	B	.;.;.;.;.	.;.;.;.;.	2.959437	0.39404	21.0	0.99503782940323104	0.68206	0.26253	0.22939	N	AEFDGBCI	0.175344	0.30251	N	-0.305526412320958	0.28937	1.600369	-0.428621174827072	0.24161	1.321558	0.424570754903303	0.20319	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	1.75	0.23707	0.946000	0.28667	0.158000	0.15372	-0.850000	0.02721	0.716000	0.28781	0.005000	0.19230	0.002000	0.04165	0.0:0.589:0.411:0.0	9.809	0.39978	806	0.43582	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1583.98	34	chr1	178514733	.	C	T	1583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.435;SOR=0.717	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1598,0,1375	20	0	1	0
chr1	178865020	178865020	G	A	exonic	ANGPTL1	.	nonsynonymous SNV	ANGPTL1:NM_001376763:exon2:c.C757T:p.P253S	.	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.245	B	0.032	B	0.009	N	1.000	D	1.7	L	0.59	T	-0.956	T	0.125	T	0.356	1.821	12.05	4.41	1.381	5.474	16.152	0.121	0.0102737381831	0.0018	0.00159744	0.0016	0.0004	0.0022	0	0.0002	0.0019	0.0051	0.0020	0.001313	203	154602	rs138256408	0.0014	0.0014	0.0013	0.0015	0.0105	0.0014	0.0013	0.0083	0.0075	0.0002	0.0018	0.0062	0	8.181e-05	0.0105	0.0013	0.0018	0.0026	0.0015	0.0015	0.0012	0.0017	0.0050	0.0013	0.0012	0.0041	0.0037	0.0002	0	0.0050	0.0063	0	0	0.0034	0.0014	0.0033	0.0025	0.36	0.11919	T	0.259	0.23097	T	0.245	0.31074	B	0.032	0.22131	B	0.009072	0.30531	N	0.336727	0.999991	0.81001	D	1.995	0.54099	M	0.59	0.53943	T	0.4	0.03463	N	0.412	0.46555	-0.9558	0.39952	T	0.125	0.43028	T	10	0.005987823	0.00134	T	0.010274	0.26610	T	0.121	0.33580	.	.	0.64125479947	0.63829	0.6034380268883854	0.60274	0.0901073495918	0.10162	0.39449185133	0.24300	T	0.06872	0.33530	T	-0.402891	0.02216	T	-0.357359	0.38358	T	0.013583099000501	0.00251	T	0.873613	0.58243	D	0.05064917	0.09181	0.087473966	0.20334	0.05064917	0.09181	0.087473966	0.20333	-3.536	0.16940	T	.	.	0.075	0.05447	B	.;.	.;.	2.219682	0.28328	17.76	0.95089269561520429	0.26151	0.99297	0.94124	D	AEFBI	0.768811	0.70426	D	-0.272137197756959	0.30228	1.683532	-0.122153702378769	0.34497	1.985085	0.999998846714514	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.32	4.41	0.52588	5.959000	0.70057	6.764000	0.56543	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.1339:0.8661:0.0	16.152	0.81438	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	696.98	36	chr1	178865020	.	G	A	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-2.220e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:32,28:60:99:711,0,841	20	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	D	.	.	.	.	.	.	.	.	.	0.905	8.680	3.14	1.963	2.159	6.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	528.34	34	chr1	179903964	.	A	C	528.34	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.394e+00;DP=1049;ExcessHet=1.7912;FS=123.470;InbreedingCoeff=-0.1775;MLEAC=6;MLEAF=0.150;MQ=59.88;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.52;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,13:68:86:0|1:179903957_A_C:86,0,1600:179903957	14	0	6	1
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.24	M	-2.57	D	0.672	D	0.818	D	0.871	5.044	29.9	5.6	2.788	9.092	19.577	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	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	0.1786	351.91	104	chr1	180014239	.	G	C	351.91	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-3.051e+00;DP=1895;ExcessHet=1.1607;FS=246.725;InbreedingCoeff=-0.2543;MLEAC=7;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.125;SOR=11.993	GT:AD:DP:GQ:PL	0/1:72,36:113:73:73,0,1222	9	0	5	7
chr1	186977737	186977737	A	G	exonic	PLA2G4A	.	nonsynonymous SNV	PLA2G4A:NM_001311193:exon14:c.A1729G:p.I577V	Phospholipase A2, group IV A, deficiency of (3)	.	421	1040	59	2	0	63	0.029398	.	.	696325	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.036	B	0.000	N	0.969	D	-0.4	N	4.04	T	-0.943	T	0.003	T	0.119	0.670	7.587	3.68	0.516	3.247	8.149	0.035	.	0.0077	0.00658946	0.0085	0.0013	0.0057	0	0.0021	0.0110	0.0132	0.0116	0.0085704	1325	154602	rs28395831	0.0091	0.0091	0.0089	0.0093	0.0439	0.0089	0.0089	0.0394	0.0377	0.0025	0.0070	0.0295	5.04e-05	0.0018	0.0439	0.0090	0.0099	0.0127	0.0071	0.0071	0.0072	0.0069	0.0141	0.0067	0.0066	0.0114	0.0104	0.0020	0	0.0071	0.0346	0.0002	0.0014	0.0510	0.0094	0.0109	0.0141	0.892	0.02471	T	0.352	0.17372	T	0.003	0.11197	B	0.026	0.20792	B	0.000250	0.46924	N	0.250277	0.968559	0.38668	D	-0.745	0.01742	N	4.04	0.03121	T	0.39	0.03521	N	0.105	0.08925	-0.9427	0.42185	T	0.003	0.00832	T	10	0.0045812726	0.00095	T	.	.	.	0.035	0.08770	.	.	0.53586618445	0.53237	0.3995844948397593	0.39873	0.482066616854	0.47176	0.437642633915	0.30255	T	0.098935	0.40324	T	-0.626606	0.00100	T	-0.662464	0.08101	T	0.0106937320788063	0.00150	T	0.829517	0.49484	T	0.06799674	0.14775	0.047745768	0.06944	0.06799674	0.14774	0.047745768	0.06944	-3.377	0.14748	T	0.12229267029175715	0.11702	0.064	0.01622	B	.	.	1.949672	0.24767	16.52	0.86608487478827612	0.16651	0.64634	0.32471	D	AEFGBCI	0.157326	0.28282	N	-0.623964233145568	0.18226	0.944563	-0.393162390332354	0.25199	1.384411	0.999985796314232	0.51787	0.627647	0.40530	0	0.670034	0.63936	0	0.618467	0.43123	0	0.657601	0.63696	0	.	.	5.98	3.68	0.41359	3.259000	0.51217	6.863000	0.56768	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.979000	0.57723	0.7827:0.0:0.2173:0.0	8.149	0.30293	897	0.25382	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	731.98	34	chr1	186977737	.	A	G	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-7.410e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:39,33:72:99:746,0,1007	20	0	1	0
chr1	197902785	197902785	G	C	exonic	C1orf53	.	nonsynonymous SNV	C1orf53:NM_001024594:exon1:c.G136C:p.E46Q,	.	.	333	1181	8	0	0	8	0.00337553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.014	B	0.009	B	0.335	N	1.000	N	1.39	L	.	.	-1.004	T	0.102	T	0.078	2.936	15.78	1.04	0.130	-0.276	8.952	0.009	.	0.0034	0.00259585	0.0054	0.0016	0.0021	0	0.0029	0.0068	0.0098	0.0081	0.0033505	518	154602	rs202128014	0.0041	0.0041	0.0042	0.0041	0.0061	0.0041	0.0040	0.0057	0.0055	0.0010	0.0016	0.0018	2.686e-05	0.0016	0.0046	0.0045	0.0038	0.0061	0.0037	0.0037	0.0036	0.0039	0.0060	0.0035	0.0034	0.0054	0.0052	0.0009	0.0121	0.0039	0.0023	0	0.0016	0	0.0058	0.0043	0.0060	0.034	0.44029	D	0.428	0.13792	T	0.014	0.16867	B	0.009	0.14300	B	0.335090	0.04154	N	1.562160	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.3	0.11913	N	0.081	0.05670	-1.0042	0.28696	T	0.102	0.37743	T	9	0.0037774146	0.00070	T	.	.	.	0.009	0.00846	.	.	0.16115917748	0.15686	0.23059572420947583	0.22974	0.192941141249	0.21626	.	.	.	0.010059	0.09113	T	-0.450688	0.01119	T	-0.416013	0.31534	T	0.0121039965075849	0.00193	T	0.414459	0.10821	T	0.08111804	0.18623	0.063350014	0.12534	0.08111804	0.18623	0.063350014	0.12534	-3.582	0.17596	T	.	.	0.079	0.07412	B	.	.	0.767989	0.11380	7.993	0.98854251347137767	0.47356	0.03528	0.08716	N	ALL	0.037977	0.05306	N	-0.680630309694579	0.16574	0.8456469	-0.851864410727462	0.13242	0.68591	0.999999999996433	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.289072	0.05449	1	0.249971	0.05119	0	.	.	3.12	1.04	0.19220	0.275000	0.18461	-0.245000	0.10556	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.485:0.515:0.0	8.952	0.34955	472	0.77968	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1151.98	38	chr1	197902785	.	G	C	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-1.591e+00;SOR=0.732	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1166,0,898	20	0	1	0
chr1	198253085	198253085	C	G	exonic	NEK7	.	nonsynonymous SNV	NEK7:NM_133494:exon3:c.C103G:p.R35G,	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.095	B	0.175	B	0.003	N	0.996	D	2.1	M	3.06	T	-0.560	T	0.233	T	0.712	3.245	16.88	4.41	2.775	4.443	14.597	0.131	.	0.0068	0.00399361	0.0066	0.0022	0.0024	0	0.0195	0.0088	0.0089	0.0016	0.0064747	1001	154602	rs55833332	0.0081	0.0082	0.0083	0.0080	0.0090	0.0080	0.0079	0.0089	0.0088	0.0010	0.0028	0.0042	0	0.0181	0.0010	0.0090	0.0076	0.0018	0.0070	0.0070	0.0073	0.0066	0.0104	0.0066	0.0065	0.0097	0.0095	0.0016	0	0.0062	0.0035	0.0002	0.0145	0	0.0104	0.0085	0.0017	0.067	0.49613	T	0.16	0.42794	T	0.095	0.25437	B	0.175	0.35598	B	0.002656	0.36173	N	0.256241	0.996019	0.42972	D	1.47	0.36993	L	-0.23	0.66652	T	-2.33	0.59059	N	0.677	0.68429	-0.5599	0.66407	T	0.233	0.59879	T	10	0.010851383	0.00240	T	.	.	.	0.131	0.35738	.	.	0.901857119871	0.90088	0.4970526681200249	0.49626	0.906264560816	0.70858	0.482114434242	0.36349	T	0.344899	0.71335	T	-0.219543	0.18055	T	-0.0777469	0.65069	T	0.0279889426191284	0.01687	T	0.978402	0.92384	D	0.6073363	0.73085	0.44948563	0.67956	0.6073363	0.73086	0.44948563	0.67957	-13.412	0.90989	D	.	.	0.465	0.63547	A	.;.;.;.;.	.;.;.;.;.	4.464820	0.69523	25.4	0.99681776223222318	0.79307	0.94923	0.62800	D	AEFBI	0.828871	0.74789	D	0.223764555029638	0.52354	3.409977	0.344285072708671	0.58164	3.985423	0.999999751571901	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.34	4.41	0.52588	4.646000	0.61108	5.933000	0.51351	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9286:0.0:0.0714	14.597	0.68013	530	0.73653	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	764.98	34	chr1	198253085	.	C	G	764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.46;SOR=0.752	GT:AD:DP:GQ:PL	0/1:26,33:59:99:779,0,514	20	0	1	0
chr1	201211012	201211012	C	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.C6119A:p.A2040D,	.	.	440	963	112	1	6	120	0.0558824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	0.92	T	-1.099	T	0.036	T	0.039	-0.268	2.716	-5.71	-4.359	-1.907	1.091	0.015	0.00709800692553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs58792551	0.0014	0.0025	0.0014	0.0014	0.0064	0.0013	0.0013	0.0057	0.0054	0.0010	0.0019	0.0027	0.0064	0.0031	0.0006	0.0012	0.0023	0.0004	2.712e-05	5.945e-05	3.498e-05	1.871e-05	0.0006	7.21e-06	3e-06	0.0001	4.151e-05	3.218e-05	0	0	0	0.0006	0	0	0	0	0	0.007	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.92	0.44461	T	-0.01	0.07155	N	0.081	0.05670	-1.0989	0.04227	T	0.036	0.15378	T	6	0.07361832	0.11148	T	0.007098	0.18814	T	0.015	0.02232	0.198	0.11110	0.0611884634855	0.05136	0.4005840240631751	0.39973	.	.	0.388744324446	0.23493	T	.	.	.	-0.399969	0.02316	T	-0.812304	0.01614	T	0.0642949969481738	0.07826	T	0.269973	0.04523	T	.	.	.	.	.	.	.	.	-9.492	0.70809	D	.	.	0.140	0.30660	B	.	.	-1.615603	0.00232	0.004	0.28537350981167992	0.01470	0.00307	0.01628	N	AEFBI	0.044882	0.07275	N	-2.16159657607577	0.00093	0.003994879	-2.34148725282434	0.00054	0.002357071	0.999962635586944	0.48965	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.85	-5.71	0.02218	-6.621000	0.00073	.	.	-7.833000	0.00001	0.000000	0.06391	.	.	0.000000	0.00833	0.2536:0.3503:0.1677:0.2285	1.091	0.01561	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	1	0	0	0	0.03846	457.62	277	chr1	201211012	.	C	A	457.62	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.913e+00;DP=4218;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=1;MLEAF=0.038;MQ=53.53;MQRankSum=-4.310e-01;QD=3.09;ReadPosRankSum=3.09;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,21:148:99:0|1:201211012_C_A:468,0,5094:201211012	12	0	1	8
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,35:187:51:.:.:51,0,3291	12	0	8	1
chr1	209843488	209843488	C	T	exonic	UTP25	.	nonsynonymous SNV	UTP25:NM_014388:exon11:c.C1819T:p.R607C,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.976	D	0.000	D	1.000	D	2.475	M	0.76	T	-0.365	T	0.315	T	0.572	4.075	21.0	4.71	1.346	6.077	15.779	0.389	0.0524860210233	.	.	5e-05	0	0	0	0	7.573e-05	0	6.129e-05	3.88e-05	6	154602	rs750896524	2.189e-05	2.189e-05	1.497e-05	2.888e-05	3.478e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	3.478e-05	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000001	0.84330	D	0.096756	1	0.81001	D	.	.	.	0.76	0.49919	T	-6.19	0.90332	D	0.674	0.68169	-0.3653	0.73105	T	0.315	0.68522	T	10	0.8368162	0.82837	D	0.052486	0.65089	D	0.389	0.70521	0.697	0.83406	0.720329122439	0.71786	0.748756468702446	0.74821	0.623308993497	0.56559	0.46598392725	0.34130	T	.	.	.	-0.105108	0.35578	T	-0.202853	0.54375	T	0.906220614910126	0.56017	D	0.979102	0.92705	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.28920	B	.	.	4.779207	0.77442	26.7	0.99933561949013705	0.99488	0.97503	0.75172	D	AEFBI	0.762302	0.69976	D	0.627697349904831	0.74933	6.217643	0.553291629446579	0.71626	5.683636	0.999999842042855	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.64	4.71	0.59010	6.134000	0.71435	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.1373:0.8627:0.0:0.0	15.779	0.78017	859	0.33891	.	.	.	.	.	.	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	33	chr1	209843488	.	C	T	1391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.39;DP=886;ExcessHet=0.0000;FS=2.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.49;ReadPosRankSum=-2.830e-01;SOR=0.917	GT:AD:DP:GQ:PL	0/1:105,59:164:99:1406,0,2474	20	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.998	D	0.000	D	0.999	D	1.795	L	-0.64	T	-0.354	T	0.438	T	0.77	3.715	18.87	4.24	0.943	5.925	12.458	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	789.99	105	chr1	212100360	.	A	G	789.99	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.330e+00;DP=2216;ExcessHet=1.1607;FS=79.885;InbreedingCoeff=-0.1403;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.42;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,25:119:99:0|1:212100360_A_G:435,0,3514:212100360	15	0	5	1
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	0.989	D	1.795	L	-0.53	T	-0.381	T	0.393	T	0.433	3.843	19.52	3.55	0.781	1.239	11.901	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	1408.15	87	chr1	212100361	.	C	G	1408.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.253e+00;DP=2254;ExcessHet=3.5521;FS=100.771;InbreedingCoeff=-0.2600;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.54;ReadPosRankSum=1.61;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,25:119:99:0|1:212100360_A_G:435,0,3514:212100360	11	0	8	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.998	D	0.000	D	1.000	D	1.845	L	-0.74	T	-0.175	T	0.536	D	0.259	3.999	20.5	5.41	2.697	4.959	19.553	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1127.66	57	chr1	212100362	.	C	G	1127.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.580e+00;DP=1907;ExcessHet=2.5830;FS=91.638;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.46;ReadPosRankSum=1.70;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,25:119:99:0|1:212100360_A_G:435,0,3514:212100360	14	0	7	0
chr1	212626654	212626654	G	A	exonic	FAM71A	.	nonsynonymous SNV	FAM71A:NM_153606:exon1:c.G1777A:p.A593T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.001	B	0.002	B	.	.	1.000	N	0.075	N	3.47	T	-0.930	T	0.007	T	0.041	0.713	7.796	-4.35	-1.370	-0.216	2.703	0.012	0.00157146603947	.	.	3.548e-05	0	0	0	0	6.227e-05	0	0	2.59e-05	4	154602	rs780791348	2.489e-05	2.463e-05	2.474e-05	2.505e-05	0.0004	1.823e-05	1.618e-05	6.183e-05	2.555e-05	0	0	0	0	0	0.0004	2.534e-05	6.701e-05	2.407e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.07	0.43721	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	3.47	0.05188	T	-0.69	0.19720	N	0.053	0.02462	-0.9303	0.44095	T	0.007	0.02282	T	9	0.03136775	0.01270	T	0.001571	0.02497	T	0.012	0.01476	0.143	0.04650	0.0920862733494	0.08535	0.051706640169727446	0.05112	0.0676473337877	0.07564	0.30421102047	0.11032	T	0.001407	0.00865	T	-0.537147	0.00348	T	-0.840222	0.01095	T	0.0172601570731133	0.00468	T	0.440756	0.12177	T	0.030247578	0.02655	0.049015183	0.07400	0.030247578	0.02655	0.049015183	0.07400	-3.561	0.17296	T	.	.	0.08	0.07793	B	.	.	-0.051126	0.03944	0.879	0.71725687354716094	0.09727	0.01393	0.04730	N	AEFGBI	0.025506	0.01757	N	-1.97106391720851	0.00244	0.01045689	-1.99269282741174	0.00317	0.01401015	0.0465362041070385	0.14694	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.04	-4.35	0.03402	-0.319000	0.08080	-0.131000	0.11618	-0.787000	0.03278	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.41:0.1131:0.3624:0.1145	2.703	0.04836	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	1	0	0	0	0.02381	1176.98	39	chr1	212626654	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.970e-01;DP=930;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.12;ReadPosRankSum=1.02;SOR=0.675	GT:AD:DP:GQ:PL	0/1:74,55:129:99:1191,0,1851	20	0	1	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.012	B	0.006	B	0.387	N	0.996	N	0.9	L	1.98	T	-0.979	T	0.033	T	0.095	1.289	10.22	4.32	0.912	3.074	9.207	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	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	0.1905	842.74	162	chr1	214645259	.	T	C	842.74	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.014e+00;DP=2279;ExcessHet=3.5521;FS=127.609;InbreedingCoeff=-0.2304;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=1.21;SOR=11.454	GT:AD:DP:GQ:PL	0/1:139,29:168:51:51,0,3016	13	0	8	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	0	1493	28	1	0	30	0.00994695	.	.	57589	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_specified|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.51	T	1.0	D	0.987	D	0.001	U	1.000	D	1.555	L	0.46	T	-0.776	T	0.190	T	0.974	3.861	19.61	4.17	1.264	3.440	13.484	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1928.98	38	chr1	215671031	.	C	T	1928.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.012e+00;DP=859;ExcessHet=0.0000;FS=1.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-8.390e-01;SOR=0.539	GT:AD:DP:GQ:PL	0/1:82,87:169:99:1943,0,1906	20	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, 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	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:76,38:114:81:81,0,879	10	0	11	0
chr1	222746592	222746592	C	G	exonic	FAM177B	.	nonsynonymous SNV	FAM177B:NM_001324080:exon2:c.C47G:p.P16R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.358	B	0.11	B	0.148	N	1.000	N	1.155	L	1.53	T	-1.030	T	0.080	T	0.229	-1.415	0.022	2.76	0.934	0.509	5.088	0.073	0.00824275709649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.799e-06	4.789e-06	4.094e-06	5.511e-06	6.311e-06	2e-06	1.28e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.311e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.09989	T	0.246	0.24123	T	0.358	0.33818	B	0.11	0.31460	B	0.148296	0.02941	N	1.912360	1	0.08975	N	0.895	0.22405	L	0.98	0.42502	T	-2.18	0.49187	N	0.063	0.03502	-1.0299	0.20487	T	0.080	0.31735	T	10	0.09022528	0.15700	T	0.008243	0.21827	T	0.073	0.21317	0.252	0.19067	0.0846915920261	0.08053	0.03377660181712105	0.03325	0.445951067236	0.44474	0.280969798565	0.07627	T	0.024883	0.18717	T	-0.235179	0.15970	T	-0.575595	0.14941	T	0.207843214273453	0.20840	T	0.476552	0.14308	T	0.104536965	0.24713	0.14776337	0.34956	0.104536965	0.24713	0.14776337	0.34955	-4.338	0.28706	T	.	.	0.092	0.16099	B	.;.;.;.	.;.;.;.	1.028298	0.14083	10.65	0.087233806802862981	0.00074	0.04596	0.10250	N	AEFBI	0.041856	0.06420	N	-0.69570000420952	0.16143	0.819914	-0.721455249629235	0.16428	0.8689494	4.05454634408433E-5	0.03775	0.553676	0.25195	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.67	2.76	0.31527	0.276000	0.18478	0.545000	0.19369	0.539000	0.25131	0.000000	0.06391	0.003000	0.18671	0.676000	0.33425	0.2071:0.6859:0.0:0.107	5.088	0.14029	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	0.02381	2444.98	38	chr1	222746592	.	C	G	2444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.501;DP=970;ExcessHet=0.0000;FS=4.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.12;SOR=0.751	GT:AD:DP:GQ:PL	0/1:103,104:207:99:2459,0,2396	20	0	1	0
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:4,5,0:9:99:196,0,153,208,168,376	8	0	12	0
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16,	.	.	455	1039	27	1	0	29	0.0137636	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2455.94	46	chr1	225085607	.	GA	G	2455.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.530;DP=1059;ExcessHet=0.0000;FS=2.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.11;ReadPosRankSum=-1.356e+00;SOR=0.524	GT:AD:DP:GQ:PL	0/1:80,94:174:99:2470,0,2018	20	0	1	0
chr1	225377378	225377378	T	C	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon79:c.T12658C:p.F4220L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.005	B	.	.	1.000	N	-1.48	N	3.47	T	-0.925	T	0.005	T	0.154	-1.037	0.211	1.09	0.294	0.574	8.376	0.046	0.0116066758946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02951	T	0.406	0.14725	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-0.1	0.04694	N	3.47	0.05188	T	-1.67	0.39887	N	0.21	0.23380	-0.9248	0.44886	T	0.005	0.01578	T	9	0.0605765	0.07462	T	0.011607	0.29407	T	0.046	0.12618	0.546	0.66015	0.0482279557977	0.04254	.	.	.	.	0.568539500237	0.48471	T	0.002023	0.01432	T	-0.304001	0.08288	T	-0.674453	0.07326	T	0.0399423272159021	0.03680	T	0.39556	0.09932	T	0.13351198	0.31052	0.10735878	0.25844	0.13351198	0.31052	0.10735878	0.25843	-2.454	0.05475	T	.	.	0.777	0.76241	P	.;.;.	.;.;.	0.533444	0.09024	5.803	0.34329979157815255	0.02094	0.02229	0.06478	N	AEFBI	0.040848	0.06131	N	-1.31521407425997	0.03500	0.1564671	-1.19587670465252	0.05978	0.2864177	3.38899039422105E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	1.09	0.19517	0.568000	0.23326	0.478000	0.18778	0.624000	0.51786	0.047000	0.21291	0.218000	0.23694	0.464000	0.28207	0.0:0.3155:0.0:0.6845	8.376	0.31601	619	0.66147	Dynein heavy chain 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	953.98	41	chr1	225377378	.	T	C	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=870;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=2.06;SOR=0.700	GT:AD:DP:GQ:PL	0/1:57,39:96:99:968,0,1397	20	0	1	0
chr1	228510442	228510442	G	A	exonic	BTNL10	.	nonsynonymous SNV	BTNL10:NM_001287262:exon3:c.C544T:p.P182S,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	.	.	.	.	.	.	.	.	0.625	N	.	.	-0.993	T	0.054	T	.	-0.724	0.895	2.16	0.463	0.477	7.214	0.035	.	.	0.00239617	0.0053	0.0035	0.0035	0.0063	0	0.0040	0.0132	0.0063	0.0009573	148	154602	rs189572020	0.0025	0.0020	0.0023	0.0027	0.0229	0.0024	0.0024	0.0192	0.0178	0.0006	0.0031	0.0055	0.0076	0.0002	0.0229	0.0020	0.0040	0.0064	0.0024	0.0024	0.0020	0.0028	0.0073	0.0022	0.0021	0.0054	0.0048	0.0004	0	0.0061	0.0058	0.0052	0.0003	0.0170	0.0022	0.0052	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1498.98	36	chr1	228510442	.	G	A	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.800e-02;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=0.011;SOR=0.644	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1513,0,1381	20	0	1	0
chr1	228511918	228511918	G	A	exonic	BTNL10	.	nonsynonymous SNV	BTNL10:NM_001287262:exon2:c.C40T:p.P14S,	.	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	.	.	2.39	M	.	.	-0.131	T	0.331	T	.	2.366	13.87	3.82	2.093	2.380	14.062	0.251	.	.	0.00239617	0.0061	0.0024	0.0041	0.0069	0	0.0041	0.0159	0.0127	0.0009314	144	154602	rs182509913	0.0025	0.0020	0.0023	0.0027	0.0223	0.0024	0.0024	0.0187	0.0173	0.0006	0.0031	0.0055	0.0077	0.0002	0.0223	0.0020	0.0039	0.0066	0.0024	0.0024	0.0020	0.0028	0.0072	0.0022	0.0021	0.0054	0.0048	0.0004	0	0.0062	0.0058	0.0052	0.0003	0.0170	0.0022	0.0057	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1920.98	43	chr1	228511918	.	G	A	1920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.32;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.49;ReadPosRankSum=-7.820e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:55,69:124:99:1935,0,1300	20	0	1	0
chr1	230678952	230678952	C	T	exonic	COG2	.	nonsynonymous SNV	COG2:NM_001145036:exon10:c.C1066T:p.R356W	.	.	431	1085	6	0	0	6	0.00275735	.	.	794606	not_provided|Congenital_disorder_of_glycosylation,_type_IIq|not_specified	MedGen:C3661900|MONDO:MONDO:0054559,MedGen:C4479353,OMIM:617395,Orphanet:435934|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.992	D	0.487	P	0.029	N	0.998	D	2.52	M	3.52	T	-0.669	T	0.181	T	0.51	3.561	18.15	3.06	0.867	1.786	12.749	0.213	0.0385122524623	7.7e-05	.	4.956e-05	0	0	0	0	9.014e-05	0	0	4.53e-05	7	154602	rs200705175	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	5.978e-05	0.0001	0	7.564e-05	1.873e-05	0.0003	0.0001	0.0002	5.802e-05	6.575e-05	6.568e-05	5.141e-05	8.076e-05	8.821e-05	3.518e-05	2.618e-05	3.762e-05	2.575e-05	7.243e-05	0	6.546e-05	0	0	0	0	8.821e-05	0	0	0.011	0.58626	D	0.082	0.45318	T	0.975	0.58077	D	0.386	0.44011	B	0.028839	0.25543	N	0.429971	0.998428	0.44899	D	2.77	0.80896	M	3.52	0.04905	T	-3.81	0.71882	D	0.612	0.62950	-0.6686	0.61892	T	0.181	0.52767	T	10	0.5218507	0.62688	D	0.038512	0.58269	D	0.213	0.50496	.	.	0.336892272479	0.33291	0.5122040009096595	0.51142	0.43872957691	0.43897	0.35747730732	0.19017	T	0.495744	0.81833	T	-0.262869	0.12567	T	-0.360324	0.38016	T	0.652112305164337	0.38552	D	0.940206	0.77406	D	0.13691837	0.31723	0.14632757	0.34670	0.13691837	0.31723	0.14632757	0.34669	-6.868	0.53063	T	0.4917912686882258	0.56855	0.088	0.15520	B	.;.;.	.;.;.	4.148323	0.62211	24.4	0.99868102475979881	0.94637	0.89017	0.49236	D	AEFBI	0.486604	0.52570	N	0.300363824959683	0.56167	3.781131	0.259958012969278	0.53217	3.491826	0.33508970711538	0.19525	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.07	3.06	0.34374	1.826000	0.38730	2.329000	0.32183	0.599000	0.40250	1.000000	0.71638	0.454000	0.24968	0.985000	0.61073	0.1142:0.6294:0.2564:0.0	12.749	0.56672	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	0.04762	1698.11	33	chr1	230678952	.	C	T	1698.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.898;DP=836;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.85;SOR=0.646	GT:AD:DP:GQ:PL	0/1:45,42:87:99:964,0,1016	19	0	2	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.06	96	chr1	240207634	.	G	C,*	10864.06	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=0.439;DP=1592;ExcessHet=1.5138;FS=0.581;InbreedingCoeff=-0.0794;MLEAC=9,1;MLEAF=0.225,0.025;MQ=59.94;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.210e-01;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,42,0:89:99:0|1:240207634_G_C:1552,0,1806,1007,1960,2994:240207634	11	1	7	1
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,42,0:89:99:0|1:240207634_G_C:1552,0,1806,1007,1960,2994:240207634	10	1	8	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5665.43	76	chr1	240207775	.	C	T,*	5665.43	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=0.155;DP=1288;ExcessHet=0.1504;FS=0.973;InbreedingCoeff=0.0933;MLEAC=6,1;MLEAF=0.214,0.036;MQ=55.45;MQRankSum=2.61;QD=21.46;ReadPosRankSum=0.00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,69,0:70:99:1|1:240207775_C_T:2831,187,0,2850,248,2911:240207775	9	1	3	7
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6200.34	61	chr1	240207785	.	A	T,*	6200.34	.	AC=6,1;AF=0.214,0.036;AN=28;BaseQRankSum=0.505;DP=1124;ExcessHet=0.3860;FS=0.432;InbreedingCoeff=0.0463;MLEAC=8,1;MLEAF=0.286,0.036;MQ=54.15;MQRankSum=1.73;QD=18.13;ReadPosRankSum=0.388;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,132,0:133:99:.:.:3280,259,0,3021,273,2981	8	1	4	7
chr1	240207788	240207788	-	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2976_2977insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.297e-05	0	0	0	0	5.93e-05	0	0	3.84e-05	1	26028	rs746761716	0.0040	0.0069	0.0039	0.0042	0.0132	0.0039	0.0039	0.0119	0.0113	0.0055	0.0029	0.0121	0.0132	0.0047	0.0110	0.0032	0.0061	0.0071	2.121e-05	0.0005	0	4.471e-05	4.004e-05	0	0	.	.	0	0	0	0	0	0	0	4.004e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2680.23	68	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA,*	2680.23	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-1.476e+00;DP=1101;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5325;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.12;MQRankSum=3.04;QD=16.54;ReadPosRankSum=0.213;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,126,0:127:99:1|1:240207775_C_T:2889,221,0,2694,253,2685:240207775	18	1	0	1
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	2680.23	68	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA,*	2680.23	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-1.476e+00;DP=1101;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5325;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.12;MQRankSum=3.04;QD=16.54;ReadPosRankSum=0.213;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,126,0:127:99:1|1:240207775_C_T:2889,221,0,2694,253,2685:240207775	18	1	0	1
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,27,0,0:29:33:1|1:240207775_C_T:982,33,0,801,78,809,801,78,809,809:240207775	6	1	7	3
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	2505.01	36	chr1	240207818	.	A	T,*	2505.01	.	AC=6,1;AF=0.200,0.033;AN=30;BaseQRankSum=1.26;DP=723;ExcessHet=0.3441;FS=4.214;InbreedingCoeff=0.0526;MLEAC=6,1;MLEAF=0.200,0.033;MQ=49.66;MQRankSum=1.36;QD=13.05;ReadPosRankSum=0.284;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,8,0:23:99:.:.:128,0,302,187,321,551	9	1	4	6
chr1	241787896	241787896	G	A	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon24:c.G2753A:p.R918Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.573	P	0.049	B	0.002	N	0.700	N	1.95	M	0.92	T	-1.032	T	0.075	T	0.291	1.778	11.91	3.12	0.435	0.811	9.065	0.082	0.0108489923757	7.7e-05	.	3.319e-05	0.0002	0	0	0	1.504e-05	0	6.292e-05	2.59e-05	4	154602	rs143794967	2.809e-05	2.873e-05	2.045e-05	3.581e-05	0.0005	2.09e-05	1.881e-05	0.0001	7.56e-05	0	0	0	0	0	0.0005	3.15e-05	3.318e-05	1.167e-05	1.972e-05	1.97e-05	0	4.038e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.415e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.213	0.19430	T	0.103	0.41913	T	0.328	0.33195	B	0.012	0.16012	B	0.001735	0.38161	N	0.119284	0.700242	0.30110	N	1.59	0.40313	L	0.92	0.44461	T	-0.87	0.23590	N	0.106	0.20262	-1.0315	0.19970	T	0.075	0.30055	T	10	0.0937902	0.16626	T	0.010849	0.27853	T	0.082	0.23913	.	.	0.146414634003	0.14194	0.1690467053722706	0.16824	0.0855495186323	0.09666	0.272784054279	0.06506	T	0.001099	0.00611	T	-0.368184	0.03687	T	-0.529979	0.19287	T	0.0636990964412689	0.07738	T	0.779722	0.44465	T	0.053448543	0.10114	0.05728759	0.10388	0.053448543	0.10114	0.05728759	0.10387	-5.654	0.43282	T	.	.	0.083	0.30842	B	.;.;.	.;.;.	2.244287	0.28660	17.87	0.95819269671408513	0.27907	0.60751	0.31286	D	AEFDBI	0.180216	0.30752	N	-0.405738663125765	0.25268	1.370359	-0.324036426569658	0.27325	1.515407	6.49933312585449E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	3.12	0.34986	0.752000	0.26027	1.822000	0.29048	-0.121000	0.13915	0.999000	0.42656	1.000000	0.68203	0.829000	0.39076	0.2294:0.0:0.7706:0.0	9.065	0.35621	823	0.40596	.;.;.	.	.	.	.	.	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	330.98	35	chr1	241787896	.	G	A	330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.25;ReadPosRankSum=1.12;SOR=0.763	GT:AD:DP:GQ:PL	0/1:46,17:63:99:345,0,1094	20	0	1	0
chr1	243164613	243164613	A	G	exonic	CEP170	.	nonsynonymous SNV	CEP170:NM_001042404:exon12:c.T3053C:p.L1018P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	1.0	D	0.999	D	0.000	D	1.000	D	0.69	N	0.75	T	-0.879	T	0.178	T	0.842	2.891	15.63	5.04	1.879	8.663	13.964	0.377	0.0692907707242	.	0.000199681	8.32e-06	0.0001	0	0	0	0	0	0	3.84e-05	1	26028	rs564306490	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	8.995e-07	1.657e-05	0	6.564e-06	6.561e-06	1.284e-05	0	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.207	0.19854	T	0.245	0.24054	T	0.999	0.77913	D	0.966	0.84481	D	0.000003	0.62929	D	0.062483	1	0.81001	D	1.255	0.31814	L	0.75	0.51474	T	-1.7	0.40468	N	0.782	0.77883	-0.8790	0.49840	T	0.178	0.52334	T	10	0.6914418	0.71880	D	0.069291	0.70689	D	0.377	0.69527	0.128	0.03331	0.680411640291	0.67769	0.23372308482298973	0.23287	.	.	0.866966784	0.92131	D	0.03782	0.24615	T	0.0570461	0.59242	T	0.0256943	0.71999	D	0.554442584514618	0.34644	D	.	.	.	0.34033442	0.56306	0.458112	0.68513	0.34033442	0.56306	0.458112	0.68513	-7.895	0.61159	D	.	.	0.650	0.71656	P	.;.;.	.;.;.	4.783880	0.77568	26.7	0.99757116713734117	0.84772	0.97819	0.77366	D	AEFDGBI	0.960247	0.98096	D	0.539493869813663	0.69442	5.357835	0.571670279753969	0.72918	5.88604	0.999850697816334	0.44174	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	8.652000	0.90837	11.203000	0.89108	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.964	0.63710	803	0.44167	CEP170, 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	1781.98	35	chr1	243164613	.	A	G	1781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.740e-01;DP=871;ExcessHet=0.0000;FS=1.298;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.81;MQRankSum=-4.520e-01;QD=12.12;ReadPosRankSum=-1.029e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1796,0,2008	20	0	1	0
chr1	247738622	247738622	A	G	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.A8G:p.N3S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.001	U	1.000	N	.	.	-0.07	T	-0.754	T	0.252	T	0.162	2.704	15.00	3.11	1.259	2.109	10.249	0.247	0.0124673835694	.	.	8.633e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs751263288	9.582e-06	9.542e-06	1.403e-05	5.863e-06	2.883e-05	3.45e-06	2.26e-06	4.78e-06	1.81e-06	0	0	0	0	0	0	1.147e-05	0	2.883e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.0	0.92824	D	.	.	.	.	.	.	0.000892	0.41231	U	0.000000	1	0.08975	N	.	.	.	-0.07	0.63738	T	-4.43	0.77554	D	0.446	0.48411	-0.7544	0.57705	T	0.252	0.62212	T	7	0.28711534	0.46294	T	0.012467	0.31071	T	0.247	0.55478	0.532	0.64002	0.346085882481	0.34212	0.05388122422182845	0.05330	0.35392592426	0.37183	.	.	.	0.07834	0.35868	T	-0.210004	0.19379	T	-0.438802	0.28944	T	0.599449932575226	0.36378	D	0.380262	0.09172	T	0.22661717	0.45346	0.15851434	0.37013	0.22661717	0.45346	0.15851434	0.37012	-7.56	0.58031	D	.	.	0.096	0.15520	B	.	.	1.971795	0.25051	16.62	0.99499348142446475	0.67916	0.26731	0.23077	N	AEFBI	0.049879	0.08662	N	-0.337279919828391	0.27743	1.524562	-0.479262343732903	0.22725	1.235781	1.68726777540361E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.11	3.11	0.34883	1.388000	0.34048	.	.	0.717000	0.85348	0.123000	0.23227	0.601000	0.25719	0.007000	0.07825	1.0:0.0:0.0:0.0	10.249	0.42534	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1680.98	33	chr1	247738622	.	A	G	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.196;DP=818;ExcessHet=0.0000;FS=2.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-2.470e+00;SOR=1.040	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1695,0,2120	20	0	1	0
chr1	247738686	247738686	G	-	exonic	OR14K1	.	frameshift deletion	OR14K1:NM_001004732:exon1:c.72delG:p.H25Mfs*7,	.	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0012	0.0001	0.0004	0	0	0.0013	0.0045	0.0032	0.0001537	4	26028	rs568673953	0.0011	0.0011	0.0010	0.0013	0.0147	0.0011	0.0010	0.0118	0.0107	0.0002	0.0005	0.0055	0	1.883e-05	0.0147	0.0008	0.0015	0.0028	0.0007	0.0007	0.0008	0.0007	0.0042	0.0006	0.0006	0.0028	0.0023	0.0001	0	0.0015	0.0058	0	0	0.0102	0.0005	0.0028	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4138.94	33	chr1	247738685	.	TG	T	4138.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=944;ExcessHet=0.0000;FS=1.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.42;ReadPosRankSum=0.436;SOR=0.798	GT:AD:DP:GQ:PL	0/1:130,122:252:99:4153,0,4441	20	0	1	0
chr2	21138038	21138038	C	T	exonic	TDRD15	.	nonsynonymous SNV	TDRD15:NM_001306137:exon4:c.C571T:p.R191C,	.	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	.	.	.	.	2.17	T	-1.016	T	0.047	T	0.479	1.768	11.87	0.823	-0.127	-0.026	5.133	0.069	0.0106146990254	.	0.000798722	0.0011	0.0019	0	0	0	0.0015	0	0.0011	0.0005045	78	154602	rs140081299	0.0025	0.0022	0.0024	0.0026	0.0036	0.0024	0.0023	0.0035	0.0034	0.0004	0.0008	0.0007	0	0.0009	0.0015	0.0036	0.0022	0.0014	0.0017	0.0017	0.0019	0.0015	0.0032	0.0015	0.0015	0.0029	0.0027	0.0005	0	0.0008	0	0	0.0002	0	0.0032	0	0.0010	0.116	0.28395	T	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.17	0.19020	T	-0.27	0.11366	N	0.148	0.15046	-1.0159	0.25045	T	0.047	0.20077	T	5	0.009122252	0.00206	T	0.010615	0.27345	T	0.069	0.20116	.	.	0.47290127212	0.46918	0.3073515180210649	0.30648	.	.	.	.	.	0.003838	0.03252	T	-0.508213	0.00514	T	-0.505211	0.21808	T	0.0153492083285648	0.00342	T	0.681532	0.29028	T	0.056685116	0.11184	0.04772613	0.06937	0.056685116	0.11184	0.04772613	0.06937	-3.155	0.11939	T	.	.	0.067	0.03093	B	.;.	.;.	0.684153	0.10526	7.239	0.95715190508235115	0.27631	0.19950	0.20858	N	AEFI	0.136805	0.25759	N	-0.398226230460818	0.25533	1.386683	-0.418497842186151	0.24454	1.339207	1.29450436108755E-5	0.02871	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.73	0.823	0.17950	-0.012000	0.12637	-1.345000	0.05662	-0.187000	0.09635	0.067000	0.21986	0.000000	0.08366	0.982000	0.59238	0.1381:0.3779:0.0:0.484	5.133	0.14253	690	0.58899	.;.	.	.	.	.	.	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	5021.11	35	chr2	21138038	.	C	T	5021.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.40;DP=1374;ExcessHet=0.1072;FS=0.521;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-2.570e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:109,126:235:99:3144,0,2415	19	0	2	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,26:79:99:.:.:122,0,709	7	0	13	1
chr2	29065032	29065032	G	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon2:c.C3704T:p.P1235L,	.	.	.	.	.	.	.	.	.	.	.	826232	Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.848	P	0.313	N	1.000	N	1.905	M	1.77	T	-1.013	T	0.124	T	0.129	3.437	17.63	4.01	1.281	1.436	12.462	0.100	0.0141160271065	0.0002	0.000199681	9.26e-05	0.0004	0	0	0	0.0001	0	0	0.0001876	29	154602	rs201933656	0.0001	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0011	0.0010	0.0010	0.0001	0	0.0014	0.0001	0	6.015e-05	0.0003	0.0004	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0006	0.0004	0.0007	0	0.0009	0	0.0012	0	0	2.943e-05	0	0.0002	0.005	0.63226	D	0.015	0.61642	D	0.996	0.68779	D	0.848	0.60574	P	0.312513	0.14409	N	0.664749	0.999999	0.08975	N	.	.	.	1.77	0.25841	T	-6.65	0.92260	D	0.078	0.05287	-1.0128	0.26038	T	0.124	0.42799	T	10	0.03174171	0.01313	T	0.014116	0.34021	T	0.100	0.28662	.	.	0.380564188046	0.37663	0.030662640420139938	0.03015	0.0146235893545	0.01385	.	.	.	0.03758	0.24526	T	-0.556788	0.00265	T	-0.579827	0.14561	T	0.0838263039763814	0.10469	T	0.543646	0.18539	T	0.19084202	0.40687	0.21174072	0.45616	0.17048335	0.37626	0.18425384	0.41465	-4.111	0.25452	T	.	.	0.079	0.07130	B	.	.	2.043095	0.25971	16.95	0.99577216846535732	0.72802	0.12683	0.17417	N	AEFDGBI	0.083016	0.16816	N	-0.0674691833841178	0.38826	2.280007	-0.2629053434974	0.29330	1.642392	0.99998648034073	0.51787	0.616025	0.39624	0	0.547309	0.14657	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	4.88	4.01	0.45821	1.486000	0.35138	3.759000	0.39711	0.676000	0.76740	0.005000	0.17040	0.959000	0.29258	0.006000	0.07323	0.0809:0.0:0.9191:0.0	12.462	0.55077	449	0.79428	.	.	.	.	.	.	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	1012.98	41	chr2	29065032	.	G	A	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=1.17;SOR=0.798	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1027,0,968	20	0	1	0
chr2	33543536	33543536	G	C	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon12:c.G1300C:p.D434H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.995	M	-1.07	T	0.278	D	0.616	D	0.85	4.801	27.1	5.54	2.601	9.776	19.477	0.817	0.0909307281483	.	.	1.019e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs773130349	1.374e-06	1.368e-06	0	2.762e-06	4.498e-05	2.3e-07	9e-08	7.46e-06	2.79e-06	0	4.498e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.665	0.42610	L	-1.07	0.76948	T	-4.55	0.78553	D	0.871	0.91852	0.278	0.87196	D	0.616	0.86448	D	10	0.866773	0.85924	D	0.090931	0.75611	D	0.817	0.94123	0.659	0.79689	0.922271135264	0.92148	0.792965221280005	0.79249	0.490409126362	0.47766	0.861566960812	0.91342	D	0.545679	0.84524	D	0.195578	0.73480	D	0.219004	0.84124	D	0.981241822242737	0.73802	D	0.949755	0.81731	D	0.6684043	0.76347	0.65176445	0.79622	0.6684043	0.76348	0.65176445	0.79623	-13.475	0.91236	D	.	.	0.894	0.84937	P	.;.;.	.;.;.	5.182141	0.86891	29.1	0.99617105556314434	0.75172	0.99231	0.93164	D	AEFI	0.938837	0.93860	D	0.86336347420729	0.89855	10.14668	0.849714698663087	0.93001	11.76169	0.999999999523679	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	9.910000	0.98672	11.739000	0.95154	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.477	0.94984	778	0.48011	EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain|EF-hand 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	1554.98	34	chr2	33543536	.	G	C	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.692;DP=846;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=-6.730e-01;SOR=0.585	GT:AD:DP:GQ:PL	0/1:85,70:155:99:1569,0,1876	20	0	1	0
chr2	38070921	38070921	A	G	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.T1433C:p.M478T,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.029	B	0.013	N	0.547	N	1.49	L	-0.55	T	-0.806	T	0.219	T	0.15	0.817	8.286	2.19	0.131	4.134	8.943	0.073	0.00827924104834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.24840	T	.	.	.	.	.	.	0.012942	0.29001	N	0.421294	0.546761	0.31368	N	1.725	0.44537	L	.	.	.	.	.	.	0.092	0.08786	-0.8056	0.54813	T	0.219	0.58227	T	10	0.11064458	0.20689	T	0.008279	0.21928	T	.	.	.	.	0.306053231325	0.30222	0.7853405575445672	0.78485	.	.	0.460129648447	0.33328	T	0.216982	0.57930	T	-0.132633	0.31072	T	-0.428294	0.30129	T	0.236900717020035	0.22276	T	0.156384	0.27420	T	0.14393404	0.33059	0.2122428	0.45685	0.14393404	0.33059	0.2122428	0.45684	-7.38	0.56764	T	.	.	0.336	0.55658	B	.;.;.	.;.;.	1.988831	0.25265	16.70	0.76500165312934842	0.11493	0.90454	0.51643	D	AEFDGBCI	0.742165	0.68587	D	-0.305826891475538	0.28926	1.599638	-0.175937045579868	0.32424	1.844531	0.999998563789525	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.687403	0.62504	0	0.530356	0.10902	0	.	.	5.95	2.19	0.26890	4.411000	0.59536	2.640000	0.33748	0.756000	0.94297	0.996000	0.39380	0.002000	0.18203	0.974000	0.55675	0.7804:0.0:0.2196:0.0	8.943	0.34900	913	0.21160	.;.;.	.	.	.	.	.	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	1792.98	33	chr2	38070921	.	A	G	1792.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.186;SOR=0.690	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1807,0,1808	20	0	1	0
chr2	38074704	38074704	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G685A:p.E229K,	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	.	0	1411	106	5	0	116	0.0394826	.	.	79359	Congenital_glaucoma|Congenital_ocular_coloboma|not_specified|not_provided|Glaucoma_3A|Irido-corneo-trabecular_dysgenesis	MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|other	.	.	.	.	.	.	.	.	0	D	0.781	P	0.139	B	0.000	D	1.000	D	1.25	L	-0.32	T	-0.829	T	0.124	T	0.789	4.035	20.7	3.77	1.186	3.709	10.465	0.395	.	0.0037	0.0103834	0.0142	0.0017	0.0025	0	0.0040	0.0098	0.0214	0.0562	0.0107955	1669	154602	rs57865060	0.0085	0.0085	0.0070	0.0101	0.0518	0.0084	0.0083	0.0506	0.0501	0.0010	0.0021	0.0101	5.041e-05	0.0026	0.0206	0.0061	0.0088	0.0518	0.0062	0.0062	0.0055	0.0069	0.0503	0.0059	0.0057	0.0451	0.0431	0.0008	0	0.0034	0.0118	0.0004	0.0023	0.0102	0.0078	0.0076	0.0503	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000014	0.62929	D	0.111194	0.999619	0.47849	D	1.57	0.39626	L	.	.	.	.	.	.	0.697	0.70351	-0.8290	0.53365	T	0.124	0.42841	T	10	0.004917532	0.00105	T	.	.	.	.	.	.	.	.	.	0.5846823461645314	0.58398	.	.	0.597627282143	0.52569	T	0.457736	0.79599	T	-0.163042	0.26294	T	0.029531	0.72247	D	0.026333973035908	0.01451	T	0.933007	0.74900	D	0.62011653	0.73769	0.7128727	0.83058	0.72305995	0.79334	0.68006516	0.81203	-9.726	0.72255	D	.	.	0.244	0.53261	B	.;.	.;.	3.594627	0.50741	23.0	0.99863475441628191	0.94184	0.79813	0.39624	D	AEFDGBHCI	0.475083	0.51907	N	0.142951330129671	0.48478	3.059665	0.201290397305074	0.49920	3.189551	0.999999999999926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.65	3.77	0.42499	2.673000	0.46524	3.320000	0.37537	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.9053:0.0:0.0947	10.465	0.43786	922	0.19044	.;.	EIF2AK2	Cells_Cultured_fibroblasts	.	.	rs57865060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3840.11	33	chr2	38074704	.	C	T	3840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.83;DP=1009;ExcessHet=0.1072;FS=0.821;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=0.723;SOR=0.633	GT:AD:DP:GQ:PL	0/1:118,78:196:99:2167,0,2988	19	0	2	0
chr2	47799343	47799343	G	A	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.G970A:p.G324S	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	807211	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.998	D	0.000	D	1.000	D	2.385	M	-2.08	D	0.655	D	0.791	D	0.911	4.458	23.8	5.15	2.408	9.835	18.619	0.834	0.155374878272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.58626	D	0.012	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.905	0.84014	M	-2.08	0.86010	D	-5.65	0.86988	D	0.874	0.87157	0.655	0.92609	D	0.791	0.92920	D	10	0.9196079	0.91317	D	0.155375	0.83633	D	0.834	0.94765	0.806	0.92372	0.943350435871	0.94276	0.749069511857866	0.74852	.	.	0.886476993561	0.94814	D	0.808571	0.95191	D	0.435192	0.91790	D	0.387347	0.91688	D	0.993670297605094	0.84570	D	0.945305	0.91674	D	0.8548864	0.87699	0.7471236	0.85053	0.8548864	0.87701	0.7471236	0.85054	-9.551	0.77071	D	0.5749010540387977	0.64190	0.818	0.82843	P	.;.;.;.;.	.;.;.;.;.	4.427198	0.68622	25.3	0.99842763701111215	0.92316	0.98716	0.85943	D	AEFBCI	0.911748	0.87144	D	0.876015401900491	0.90536	10.44861	0.84339302578143	0.92623	11.53496	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.15	5.15	0.70287	9.968000	0.99102	11.864000	0.98398	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.619	0.91272	904	0.23766	.;.;DNA mismatch repair protein MutS-like, N-terminal;DNA mismatch repair protein MutS-like, N-terminal;.	.	.	.	.	.	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	0.02381	1920.98	34	chr2	47799343	.	G	A	1920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.41;DP=1089;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.37;ReadPosRankSum=0.839;SOR=0.696	GT:AD:DP:GQ:PL	0/1:58,67:125:99:1935,0,1530	20	0	1	0
chr2	54973838	54973838	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_007008:exon5:c.A481G:p.I161V	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.995	D	0.991	D	0.000	D	1.000	D	-0.795	N	1.17	T	-0.967	T	0.077	T	0.566	0.292	5.580	6.06	2.324	3.066	16.609	0.110	0.00902227382269	0.0002	.	4.125e-05	0	0	0	0	7.5e-05	0	0	4.53e-05	7	154602	rs201008627	5.133e-05	5.13e-05	4.631e-05	5.641e-05	0.0007	4.194e-05	3.825e-05	0.0002	0.0001	0	0	0	0	0	0.0007	6.027e-05	6.626e-05	0	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.28395	T	1.0	0.09655	T	0.995	0.67487	D	0.991	0.79672	D	0.000000	0.84330	D	0.047876	0.999852	0.51968	D	-0.295	0.03650	N	1.17	0.37910	T	-0.25	0.11008	N	0.264	0.35620	-0.9673	0.37754	T	0.077	0.30828	T	10	0.18791771	0.34323	T	0.009022	0.23750	T	0.221	0.51721	.	.	0.306053231325	0.30222	0.3777184607299535	0.37686	0.211518287228	0.23653	0.722889304161	0.70468	T	0.087757	0.38012	T	-0.206948	0.19810	T	-0.330493	0.41414	T	0.186377035221636	0.19628	T	0.918608	0.70760	D	0.1010498	0.23867	0.1362508	0.32599	0.1010498	0.23867	0.1362508	0.32598	-3.277	0.18773	T	.	.	0.088	0.50500	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.498991	0.70345	25.5	0.86385496419168317	0.16501	0.92115	0.54978	D	AEGBI	0.451454	0.50543	N	0.0777366728182722	0.45425	2.799292	0.26901987038118	0.53740	3.541405	0.999999990566384	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.06	6.06	0.98340	4.791000	0.62154	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	16.609	0.84711	615	0.66512	.;.;.;Reticulon|Reticulon;.;.;.;.;Reticulon|Reticulon	.	.	.	.	.	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	1318.98	49	chr2	54973838	.	T	C	1318.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.30;DP=1038;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.491;SOR=0.687	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1333,0,1297	20	0	1	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	1/2:1,17,24,0,0,0:42:99:1505,964,958,555,0,697,1540,1004,688,1659,1540,1004,688,1659,1659,1540,1004,688,1659,1659,1659	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	1/2:1,17,24,0,0,0:42:99:1505,964,958,555,0,697,1540,1004,688,1659,1540,1004,688,1659,1659,1540,1004,688,1659,1659,1659	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	1/2:1,17,24,0,0,0:42:99:1505,964,958,555,0,697,1540,1004,688,1659,1540,1004,688,1659,1659,1540,1004,688,1659,1659,1659	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	1/2:1,17,24,0,0,0:42:99:1505,964,958,555,0,697,1540,1004,688,1659,1540,1004,688,1659,1659,1540,1004,688,1659,1659,1659	0	4	5	0
chr2	74198717	74198717	C	T	exonic	MTHFD2	.	nonsynonymous SNV	MTHFD2:NM_006636:exon1:c.C76T:p.R26C,	.	.	.	.	.	.	.	.	.	.	.	3369604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.076	B	0.01	B	0.330	N	0.999	N	0.345	N	1.83	T	-1.050	T	0.066	T	0.28	0.085	4.458	2.78	0.857	0.363	5.787	0.044	0.0180721257203	.	.	1.929e-05	0	0	0	0	3.461e-05	0	0	1.29e-05	2	154602	rs771539434	1.851e-05	1.915e-05	2.184e-05	1.516e-05	0.0005	1.268e-05	1.087e-05	0.0001	7.57e-05	0	0	0	0	0	0.0005	1.35e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.78490	T	0.005	0.76473	D	0.006	0.24253	B	0.006	0.14941	B	0.330450	0.14123	N	0.698788	1	0.21331	N	0	0.06538	N	1.83	0.51474	T	-0.48	0.24460	N	0.191	0.30914	-1.0496	0.14509	T	0.066	0.27225	T	10	0.13597381	0.25872	T	0.018072	0.40007	T	0.044	0.11924	0.626	0.76141	0.518531843619	0.51497	0.5469011963806527	0.54616	0.199589811103	0.22362	0.359801530838	0.19356	T	0.314742	0.68640	T	-0.148922	0.28482	T	-0.451692	0.27511	T	0.0663010255635337	0.08122	T	0.765923	0.44827	T	0.09126941	0.21382	0.09049428	0.21224	0.09126941	0.21381	0.09049428	0.21223	-5.39	0.40823	T	.	.	0.167	0.36811	B	.;.;.	.;.;.	1.843105	0.23417	16.01	0.90602554543348413	0.19856	0.28089	0.23458	N	ALL	0.069778	0.13825	N	-0.880252104142548	0.11314	0.5452838	-0.878345931429552	0.12608	0.6495123	0.999999999999532	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.58	2.78	0.31702	0.372000	0.20199	0.432000	0.18335	0.549000	0.26987	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.191:0.7119:0.0:0.0971	5.787	0.17605	758	0.50837	.;.;.	.	.	.	.	.	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	631.98	34	chr2	74198717	.	C	T	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.382;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.65;ReadPosRankSum=0.701;SOR=0.779	GT:AD:DP:GQ:PL	0/1:63,32:95:99:646,0,1478	20	0	1	0
chr2	74221502	74221502	C	T	splicing	SLC4A5	NM_133478:exon30:c.3332-1G>A;NM_021196:exon26:c.3380-1G>A	.	.	.	.	428	1092	2	0	0	2	0.000914913	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.545	18.09	5.18	1.576	4.921	11.168	.	.	.	.	2.472e-05	0	8.639e-05	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs202126887	3.01e-05	3.01e-05	2.995e-05	3.025e-05	0.0002	2.282e-05	2.032e-05	2.995e-05	2.038e-05	2.987e-05	2.236e-05	0	0	0	0.0002	3.058e-05	1.656e-05	6.956e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154746	0.69712	D	0.170409	0.81435	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.761807	0.93435	33	0.99077481197918493	0.51882	0.84569	0.43652	D	AEFDBCI	.	.	.	1.03476343997364	0.96716	15.04955	0.883199609967911	0.94797	13.05115	0.996659569308907	0.34900	0.115753	0.02995	0	0.12628	0.03447	0	0.068591	0.01938	0	0.062806	0.01542	0	0.827389	0.49545	6.06	5.18	0.71140	4.986000	0.63577	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9162:0.0:0.0838	11.168	0.47778	724	0.55085	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.98	38	chr2	74221502	.	C	T	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.853e+00;DP=820;ExcessHet=0.0000;FS=5.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.716;SOR=0.330	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1066,0,944	20	0	1	0
chr2	74366844	74366844	C	T	exonic	DCTN1	.	nonsynonymous SNV	DCTN1:NM_001135041:exon16:c.G2003A:p.R668Q	Neuropathy, distal hereditary motor, type VIIB, Autosomal dominant;Perry syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	3094154	Amyotrophic_lateral_sclerosis_type_1|Perry_syndrome|Neuronopathy,_distal_hereditary_motor,_type_7B	MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509|MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.988	D	0.003	N	1.000	D	1.89	L	-1.57	D	0.417	D	0.685	D	0.733	5.098	31	5.32	2.769	7.117	17.919	0.685	0.182468314395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.015	0.63109	D	0.998	0.73220	D	0.988	0.77976	D	0.003167	0.35330	N	0.000000	1	0.81001	D	1.59	0.40313	L	-1.57	0.81900	D	-2.41	0.54546	N	0.798	0.82057	0.417	0.89354	D	0.685	0.89132	D	10	0.72925	0.74184	D	0.182468	0.85622	D	0.685	0.88490	0.399	0.42753	0.979016098191	0.97879	0.5159983753484382	0.51522	0.424303151291	0.42865	0.859854102135	0.91089	D	0.621351	0.88135	D	0.217496	0.75538	D	0.0746422	0.75220	D	0.937501430511475	0.60734	D	0.991601	0.97869	D	0.27413878	0.50480	0.22913945	0.47977	0.27413878	0.50480	0.22913945	0.47976	-8.705	0.65890	D	0.17392362024964245	0.22059	0.293	0.65368	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.710527	0.75672	26.4	0.99958695129745401	0.99990	0.98810	0.87149	D	AEFGBI	0.901832	0.84901	D	0.762982267136809	0.83747	8.099293	0.760282510549084	0.86925	9.047799	0.999999999999529	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.238000	0.77628	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.919	0.88878	559	0.71409	Dynein associated protein;.;Dynein associated protein;.;.;.;Dynein associated protein;.	.	.	.	.	.	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	1476.98	37	chr2	74366844	.	C	T	1476.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.180e-01;DP=830;ExcessHet=0.0000;FS=4.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=1.87;SOR=0.391	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1491,0,1609	20	0	1	0
chr2	86075130	86075130	C	T	exonic	POLR1A	.	nonsynonymous SNV	POLR1A:NM_015425:exon12:c.G1511A:p.R504H,	Acrofacial dysostosis, Cincinnati type, Autosomal dominant	.	429	1084	9	0	0	9	0.00413413	.	.	697690	Acrofacial_dysostosis_Cincinnati_type|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014651,MedGen:C4225317,OMIM:616462,Orphanet:1200|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.952	D	0.000	D	0.999	D	1.89	L	-1.13	T	-0.101	T	0.459	T	0.558	3.465	17.74	5.01	2.606	2.848	12.860	0.514	0.0398403984058	0.0030	0.00139776	0.0031	0.0009	0.0030	0	0.0002	0.0047	0.0026	0.0009	0.0029948	463	154602	rs142266408	0.0038	0.0038	0.0037	0.0038	0.0045	0.0037	0.0037	0.0044	0.0044	0.0008	0.0026	0.0006	2.519e-05	0.0004	0.0016	0.0045	0.0035	0.0009	0.0027	0.0027	0.0030	0.0024	0.0047	0.0025	0.0024	0.0043	0.0041	0.0008	0	0.0022	0.0003	0	9.418e-05	0.0034	0.0047	0.0071	0.0010	0.083	0.42783	T	0.132	0.34477	T	0.999	0.77913	D	0.952	0.69102	D	0.000040	0.55875	D	0.154071	0.99948	0.47237	D	1.845	0.48678	L	-1.13	0.77719	T	-2.14	0.48523	N	0.308	0.36884	-0.1013	0.80068	T	0.459	0.78970	T	10	0.010700852	0.00237	T	0.03984	0.59037	D	0.514	0.79217	.	.	0.769042027199	0.76693	0.6680208597019953	0.66740	0.792136211062	0.65854	0.447788029909	0.31642	T	0.610981	0.87671	D	-0.26521	0.12295	T	-0.153192	0.58960	T	0.0177484476136179	0.00505	T	0.927207	0.73169	D	0.30399966	0.53261	0.20216939	0.44232	0.32210124	0.54816	0.20419073	0.44530	-9.481	0.70741	D	0.815112836619076	0.88926	0.110	0.21087	B	.;.	.;.	5.365908	0.89973	31	0.99851250447332862	0.93013	0.89870	0.50621	D	AEFDBI	0.219597	0.34446	N	0.609040865276295	0.73744	6.016698	0.588718253190354	0.74128	6.084879	0.999999462416441	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	2.888000	0.48292	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9196:0.0:0.0804	12.860	0.57293	573	0.70213	RNA polymerase, alpha subunit|RNA polymerase, N-terminal;RNA polymerase, alpha subunit|RNA polymerase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2808.98	37	chr2	86075130	.	C	T	2808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=1034;ExcessHet=0.0000;FS=0.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=2.30;SOR=0.687	GT:AD:DP:GQ:PL	0/1:90,114:204:99:2823,0,2050	20	0	1	0
chr2	88028314	88028314	G	A	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.C250T:p.R84W	.	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.03	B	0.007	B	0.601	N	1.000	N	1.525	L	1.39	T	-0.966	T	0.089	T	0.127	1.091	9.454	1.41	0.355	0.455	9.492	0.049	0.00708983012314	0.0002	0.000599042	0.0013	0	0.0004	0.0001	0	0.0005	0.0011	0.0073	0.0011449	177	154602	rs148657110	0.0008	0.0008	0.0005	0.0010	0.0075	0.0007	0.0007	0.0070	0.0068	0.0002	0.0002	0.0019	0.0001	1.872e-05	0.0038	0.0003	0.0010	0.0075	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0004	0.0046	0.0040	0.0001	0.0077	0.0004	0.0012	0.0004	9.425e-05	0	0.0004	0.0005	0.0064	0.005	0.63226	D	0.008	0.67890	D	0.03	0.20002	B	0.007	0.12992	B	0.601190	0.05647	N	1.259100	1	0.08975	N	1.935	0.51832	L	1.39	0.33842	T	-3.17	0.64363	D	0.103	0.08646	-0.9657	0.38073	T	0.089	0.34353	T	10	0.0041328967	0.00081	T	0.00709	0.18786	T	0.049	0.13647	.	.	0.257786959452	0.25393	0.05990734627676535	0.05930	0.173662969819	0.19551	0.192794680595	0.00278	T	0.12193	0.44523	T	-0.57121	0.00218	T	-0.588855	0.13766	T	0.0356304762796449	0.02917	T	0.186981	0.01949	T	0.07956599	0.18183	0.10883202	0.26221	0.07956599	0.18183	0.10883202	0.26221	-5.684	0.43551	T	.	.	0.097	0.15654	B	.	.	2.663030	0.34696	19.70	0.98595329465342152	0.43427	0.34039	0.24973	N	AEFGBI	0.186310	0.31362	N	-0.923780949585967	0.10288	0.4908913	-0.911895572910837	0.11813	0.6041108	0.999920659921244	0.46280	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.41	0.21461	0.296000	0.18839	.	.	-0.776000	0.03386	0.261000	0.24959	0.873000	0.27615	0.117000	0.19042	0.0725:0.0:0.5619:0.3657	9.492	0.38129	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2447.98	37	chr2	88028314	.	G	A	2447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=1007;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.502;SOR=0.678	GT:AD:DP:GQ:PL	0/1:99,94:193:99:2462,0,2410	20	0	1	0
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|1:413,63:476:99:0|1:94876671_A_G:1392,0,16866:94876671	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|1:411,63:474:99:0|1:94876671_A_G:1398,0,16840:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:417,49:466:99:.:.:223,0,10390	4	0	17	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	0/1:183,56:239:99:.:.:1209,0,4956	0	0	21	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	0/1:212,171:383:99:3765,0,5570	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|1:227,112:339:99:0|1:95855576_A_G:3713,0,8923:95855576	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	0/1:281,39:320:99:385,0,10879	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|1:224,94:318:99:0|1:95855576_A_G:3272,0,8947:95855576	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	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	0/1:91,22:113:99:.:.:549,0,3694	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|1:135,46:181:99:0|1:95859969_A_AT:1525,0,5449:95859969	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|1:135,46:181:99:0|1:95859969_A_AT:1525,0,5449:95859969	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|1:133,47:180:99:0|1:95859969_A_AT:1573,0,5403:95859969	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	0/1:137,42:179:99:1301,0,3365	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|1:131,39:170:99:0|1:95860002_T_A:1243,0,5383:95860002	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|1:132,36:168:99:0|1:95860002_T_A:1114,0,5414:95860002	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|1:125,30:155:99:0|1:95860020_G_A:883,0,5112:95860020	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|1:126,29:155:99:0|1:95860020_G_A:838,0,5137:95860020	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	0/1:89,18:107:99:489,0,2376	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|1:149,38:187:99:0|1:95927222_G_GAT:1147,0,6142:95927222	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|1:156,53:209:99:0|1:95927222_G_GAT:1756,0,6391:95927222	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|1:161,70:231:99:0|1:95927222_G_GAT:2455,0,6550:95927222	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|1:180,128:308:99:0|1:95927222_G_GAT:4833,0,7173:95927222	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|1:201,157:358:99:0|1:95927222_G_GAT:5896,0,7907:95927222	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|1:213,160:373:99:0|1:95927222_G_GAT:5925,0,8164:95927222	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|1:132,51:183:99:0|1:95929092_T_C:1634,0,5328:95929092	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|1:167,63:230:99:0|1:95929092_T_C:2143,0,6802:95929092	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|1:183,85:268:99:0|1:95929092_T_C:3018,0,7428:95929092	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|1:187,91:278:99:0|1:95929092_T_C:3258,0,7578:95929092	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|1:185,99:284:99:0|1:95929092_T_C:3544,0,7442:95929092	1	0	20	0
chr2	95935472	95935472	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.T1717C:p.S573P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	.	.	-1.12	T	-0.904	T	0.225	T	0.201	0.441	6.396	-1.93	-0.633	-3.146	1.787	0.177	0.00527153839806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.12	0.77593	T	-1.12	0.28906	N	0.175	0.18784	-0.9044	0.47515	T	0.225	0.58957	T	6	0.090824604	0.15857	T	0.005272	0.13464	T	0.177	0.44549	0.26	0.20315	0.303453137403	0.29957	0.0025964046087465953	0.00241	.	.	.	.	.	0.008067	0.07427	T	-0.141922	0.29583	T	-0.441637	0.28624	T	0.039472528729692	0.03595	T	0.268373	0.04464	T	0.13172004	0.30693	0.07496957	0.16457	0.13172004	0.30693	0.07496957	0.16457	-4.435	0.30028	T	.	.	0.196	0.48156	B	.;.	.;.	0.902052	0.12763	9.279	0.84518185438774429	0.15338	0.00147	0.00892	N	AEFGI	0.051239	0.09033	N	-0.976929361326503	0.09098	0.4292066	-1.22904852238101	0.05448	0.2596297	7.79519956303825E-5	0.04552	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	-1.93	0.07180	-2.368000	0.01156	-4.076000	0.02356	0.358000	0.20042	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3254:0.4164:0.0:0.2581	1.787	0.02859	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	40.98	93	chr2	95935472	.	A	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.233e+00;DP=871;ExcessHet=0.0000;FS=40.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.51;MQRankSum=-8.880e-01;QD=0.60;ReadPosRankSum=1.08;SOR=5.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,11:68:55:0|1:95935472_A_G:55,0,2268:95935472	20	0	1	0
chr2	95935476	95935476	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon24:c.G1713C:p.K571N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	.	.	-1.14	T	-0.647	T	0.345	T	0.068	0.870	8.526	0.967	0.824	0.817	5.254	0.135	0.0083674401014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.082	0.45110	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.14	0.78082	T	-0.86	0.23372	N	0.107	0.11054	-0.6469	0.62848	T	0.345	0.70980	T	6	0.11460441	0.21567	T	0.008367	0.22156	T	0.135	0.36572	0.228	0.15406	0.345175991111	0.34120	0.005614326811380592	0.00531	.	.	.	.	.	0.00465	0.04060	T	-0.155069	0.27523	T	-0.460523	0.26542	T	0.0812367503032391	0.10144	T	0.350665	0.07816	T	0.11469298	0.27075	0.0896353	0.20972	0.11469298	0.27074	0.0896353	0.20971	-5.103	0.37939	T	.	.	0.482	0.65656	A	.;.	.;.	2.227110	0.28424	17.79	0.97922211699768646	0.36893	0.01157	0.04176	N	AEFGI	0.032006	0.03534	N	-0.615391303957462	0.18482	0.9598562	-0.831756511074597	0.13727	0.7136663	6.3933392879342E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.967	0.967	0.18792	0.810000	0.26841	-0.343000	0.09801	0.290000	0.18761	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	5.254	0.14853	253	0.90069	.;.	.	.	.	.	.	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	40.98	79	chr2	95935476	.	C	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.084e+00;DP=1034;ExcessHet=0.0000;FS=22.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.21;MQRankSum=-8.880e-01;QD=0.60;ReadPosRankSum=0.983;SOR=4.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,11:68:55:0|1:95935472_A_G:55,0,2268:95935472	20	0	1	0
chr2	96284585	96284585	C	T	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon31:c.G4165A:p.V1389I,	Retinitis pigmentosa 33, Autosomal dominant	.	0	1411	103	8	0	119	0.0404624	0.9982	0.89	101450	Retinitis_pigmentosa|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.012	B	0.000	D	1.000	D	0.005	N	1.34	T	-1.105	T	0.026	T	0.315	2.906	15.68	5.62	2.659	5.725	12.526	0.062	.	0.0038	0.00419329	0.0053	0.0003	0.0040	0	0.0017	0.0065	0.0055	0.0092	0.0051746	800	154602	rs143898031	0.0045	0.0046	0.0043	0.0048	0.0495	0.0045	0.0044	0.0448	0.0430	0.0010	0.0045	0.0198	0	0.0007	0.0495	0.0039	0.0068	0.0101	0.0036	0.0036	0.0034	0.0039	0.0083	0.0034	0.0033	0.0063	0.0058	0.0007	0.0044	0.0073	0.0205	0.0002	0.0007	0.0476	0.0037	0.0104	0.0083	0.141	0.25560	T	0.159	0.31527	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.31	0.10265	N	1.34	0.34841	T	-0.28	0.11547	N	0.291	0.32921	-1.1047	0.03567	T	0.026	0.11264	T	10	0.008113712	0.00184	T	0.008952	0.23583	T	0.062	0.17934	.	.	0.174091166621	0.17034	0.5685495379776625	0.56782	0.810597044278	0.66712	0.613193273544	0.54767	T	0.094437	0.39416	T	-0.457552	0.01018	T	-0.422057	0.30840	T	0.00818022676011606	0.00098	T	0.905909	0.66829	D	0.13796365	0.31925	0.070453815	0.14972	0.13796365	0.31925	0.070453815	0.14972	-6.034	0.46563	T	0.26735886023795424	0.36023	0.077	0.06295	B	.	.	3.656982	0.51934	23.2	0.99634088163219547	0.76203	0.96016	0.67153	D	AEFDBCI	0.560424	0.56884	D	-0.0620636731460172	0.39066	2.297824	0.168667584025889	0.48139	3.033977	0.999997737677715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.801000	0.68775	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.0:0.92:0.0:0.08	12.526	0.55431	291	0.88420	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.07143	2774.68	36	chr2	96284585	.	C	T	2774.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.01;DP=795;ExcessHet=0.3300;FS=5.389;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.02;ReadPosRankSum=-1.135e+00;SOR=1.150	GT:AD:DP:GQ:PL	0/1:17,26:43:99:810,0,404	18	0	3	0
chr2	96816473	96816473	C	T	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_017623:exon1:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.000	U	0.988	N	0.695	N	-2.89	D	-0.399	T	0.533	D	0.194	2.811	15.36	2.11	0.328	-0.046	7.917	0.260	0.987571586336	.	.	0.0002	0	0	0	0	0.0007	0	0	1.29e-05	2	154602	rs764221378	2.603e-05	2.805e-05	2.416e-05	2.795e-05	3.812e-05	1.874e-05	1.653e-05	2.231e-05	1.909e-05	3.812e-05	0	0	0	0	0	3.083e-05	1.868e-05	0	1.975e-05	1.971e-05	2.574e-05	1.347e-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	0.097	0.31682	T	0.148	0.33330	T	0.001	0.07471	B	0.001	0.04355	B	0.000027	0.55875	U	0.000000	0.98802	0.24455	N	0.975	0.24501	L	-2.89	0.92407	D	-1.67	0.39887	N	0.042	0.01498	-0.3993	0.72049	T	0.533	0.82694	D	10	0.10665932	0.19775	T	0.987572	0.99947	D	0.260	0.57221	0.234	0.16305	0.0762999501168	0.06990	0.5407660077327664	0.54001	.	.	0.880744457245	0.94061	D	0.042292	0.26136	T	-0.140631	0.29788	T	-0.319802	0.42597	T	0.532766759395599	0.33836	D	0.529347	0.17530	T	0.11802065	0.27814	0.11490716	0.27738	0.11802065	0.27814	0.11490716	0.27737	-4.928	0.38992	T	.	.	0.236	0.46927	B	.;.	.;.	2.989500	0.39905	21.1	0.99649919083938054	0.77254	0.26075	0.22887	N	ALL	0.062342	0.11978	N	-0.875238475431654	0.11434	0.5517489	-0.817173522504223	0.14079	0.7338234	0.999999999997565	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	3.98	2.11	0.26299	-0.379000	0.07494	1.244000	0.25126	0.475000	0.22001	0.000000	0.06391	0.990000	0.31317	0.941000	0.48210	0.0:0.7429:0.1628:0.0943	7.917	0.28983	132	0.94697	.;.	.	.	.	.	.	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	275.98	37	chr2	96816473	.	C	T	275.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.289;DP=691;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.392;SOR=0.709	GT:AD:DP:GQ:PL	0/1:15,13:28:99:290,0,338	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|1:135,18:153:99:1|0:97185332_A_G:350,0,5533:97185332	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|1:134,18:152:99:1|0:97185332_A_G:352,0,5572:97185332	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|1:135,18:153:99:1|0:97185332_A_G:349,0,5614:97185332	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|1:141,18:159:99:1|0:97185332_A_G:331,0,5866:97185332	3	0	18	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	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|1:145,67:212:99:0|1:97513219_T_C:2377,0,5867:97513219	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|1:153,73:226:99:0|1:97513219_T_C:2596,0,6184:97513219	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|1:171,88:259:99:0|1:97513244_G_T:3180,0,6860:97513244	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|1:173,98:271:99:0|1:97513244_G_T:3574,0,6929:97513244	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|1:172,98:270:99:0|1:97513244_G_T:3577,0,6900:97513244	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|1:179,110:289:99:0|1:97513268_C_T:4080,0,7185:97513268	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|1:180,115:295:99:0|1:97513268_C_T:4226,0,7212:97513268	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|1:180,115:295:99:0|1:97513268_C_T:4226,0,7212:97513268	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|1:180,124:304:99:0|1:97513268_C_T:4426,0,7121:97513268	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	0/1:118,54:172:99:987,0,2955	0	0	20	1
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	1/1:0,18,0:18:53:473,53,0,473,53,473	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	1|2:0,116,82:198:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:6850,3426,3078,3692,0,4729:108259008	3	5	3	0
chr2	109615225	109615233	TCGGTGGCC	-	exonic	SOWAHC	.	nonframeshift deletion	SOWAHC:NM_023016:exon1:c.736_744del:p.V247_S249del,	.	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0015	0	0	0	0.0014	0.0075	0.0005	0.0003458	9	26028	rs775437106	0.0005	0.0005	0.0005	0.0005	0.0153	0.0005	0.0004	0.0126	0.0116	0.0004	0.0030	0.0002	0	4.38e-05	0.0153	0.0004	0.0009	0.0006	0.0008	0.0008	0.0006	0.0009	0.0044	0.0007	0.0006	0.0036	0.0033	0.0001	0	0.0044	0	0	0	0.0034	0.0005	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	627.94	36	chr2	109615224	.	ATCGGTGGCC	A	627.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=852;ExcessHet=0.0000;FS=3.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=-1.256e+00;SOR=1.084	GT:AD:DP:GQ:PL	0/1:56,20:76:99:642,0,2257	20	0	1	0
chr2	112165099	112165099	C	T	exonic	FBLN7	.	nonsynonymous SNV	FBLN7:NM_001128165:exon3:c.C334T:p.R112W	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.169	B	0.027	B	0.200	N	1.000	D	1.9	L	-0.23	T	-0.664	T	0.252	T	0.291	3.194	16.69	4.48	1.269	2.426	12.851	0.176	0.0175624347794	0.0002	0.000199681	7.414e-05	0.0006	0	0	0	4.496e-05	0	0	9.7e-05	15	154602	rs147579184	0.0001	0.0001	0.0001	0.0001	0.0006	9.266e-05	8.731e-05	0.0004	0.0003	0.0006	2.236e-05	0	0	0	0	0.0001	0.0001	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.533e-05	0	0	0	0	5.88e-05	0.0005	0	0.049	0.63226	D	0.023	0.67890	D	0.013	0.28678	B	0.016	0.21085	B	0.199730	0.16631	N	0.636926	0.999586	0.54805	D	2.125	0.59049	M	-0.23	0.66652	T	-2.53	0.70432	D	0.382	0.46462	-0.6639	0.62104	T	0.252	0.62142	T	10	0.12121108	0.22973	T	0.017562	0.39307	T	0.176	0.44373	.	.	0.732716374277	0.73033	0.5106782391462972	0.50989	0.300726370093	0.32425	0.230084002018	0.01974	T	0.270826	0.64312	T	-0.303883	0.08298	T	-0.331552	0.41297	T	0.0620186753757791	0.07484	T	0.246775	0.06141	T	0.3625952	0.58033	0.309802	0.56993	0.3625952	0.58034	0.309802	0.56992	-7.951	0.60845	D	.	.	0.078	0.38924	B	.;.;.;.	.;.;.;.	3.785602	0.54452	23.5	0.99788915145743207	0.87484	0.89530	0.50053	D	AEFDGBI	0.731696	0.67869	D	-0.0301525771702124	0.40493	2.405706	0.100935682078668	0.44596	2.738353	0.999980375925758	0.51787	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.36	4.48	0.53973	2.511000	0.45137	2.081000	0.30495	-0.173000	0.11020	1.000000	0.71638	0.970000	0.29701	0.995000	0.73285	0.0:0.9196:0.0:0.0804	12.851	0.57244	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2576.98	35	chr2	112165099	.	C	T	2576.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=885;ExcessHet=0.0000;FS=1.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=0.755;SOR=0.869	GT:AD:DP:GQ:PL	0/1:86,101:187:99:2591,0,1961	20	0	1	0
chr2	124798175	124798175	C	G	exonic	CNTNAP5	.	nonsynonymous SNV	CNTNAP5:NM_001367498:exon19:c.C3072G:p.S1024R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.198	B	0.058	B	0.023	N	0.975	D	2.865	M	0.71	T	-0.885	T	0.153	T	0.65	1.492	10.94	0.401	0.115	1.941	11.525	0.222	0.0197585046779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.169e-06	7.46e-05	1.228e-05	0	8.112e-06	2.9e-06	2.1e-06	3.82e-06	2.76e-06	0	0	0	0	0	0	8.112e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.025	0.56192	D	0.198	0.29589	B	0.058	0.26451	B	0.022842	0.26555	N	0.313001	0.97517	0.39166	D	2.815	0.81989	M	0.71	0.51228	T	-3.33	0.66206	D	0.831	0.82660	-0.8851	0.49349	T	0.153	0.48257	T	10	0.65605485	0.69880	D	0.019759	0.42203	T	0.222	0.51872	0.435	0.48664	0.361758802978	0.35793	0.6951138276526944	0.69452	0.241818290328	0.26701	0.45844399929	0.33097	T	0.185956	0.53910	T	0.00764218	0.52703	T	-0.226799	0.52080	T	0.937857866287231	0.60799	D	0.691931	0.30130	T	0.32975513	0.55451	0.31521225	0.57509	0.32975513	0.55451	0.31521225	0.57508	-10.184	0.75006	D	.	.	0.379	0.58393	A	.	.	2.540979	0.32871	19.17	0.99060784371643462	0.51482	0.90005	0.50852	D	AEFI	0.369386	0.45614	N	-0.375600167826072	0.26341	1.436866	-0.422944519539033	0.24326	1.331436	1.98354847856055E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.93	0.401	0.15558	1.992000	0.40357	0.593000	0.19842	0.599000	0.40250	0.965000	0.33920	0.050000	0.21810	0.928000	0.46473	0.0:0.6475:0.0:0.3525	11.525	0.49825	938	0.14419	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	0.02381	168.98	38	chr2	124798175	.	C	G	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.254e+00;DP=1018;ExcessHet=0.0000;FS=160.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.61;ReadPosRankSum=1.76;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,52:279:99:0|1:124798175_C_G:183,0,7385:124798175	20	0	1	0
chr2	124798176	124798176	C	G	exonic	CNTNAP5	.	nonsynonymous SNV	CNTNAP5:NM_001367498:exon19:c.C3073G:p.L1025V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.055	B	0.033	B	0.955	N	0.998	N	2.015	M	0.63	T	-0.928	T	0.123	T	0.121	-0.326	2.452	5.05	2.814	-0.731	5.219	0.128	0.0052014953642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.234e-05	6.571e-05	1.501e-05	9.644e-06	1.442e-05	7.71e-06	6.36e-06	8.54e-06	6.91e-06	0	0	3.829e-05	0	0	0	1.442e-05	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.06669	T	0.574	0.08685	T	0.055	0.22733	B	0.033	0.22329	B	0.955176	0.07682	N	1.026910	0.99767	0.22562	N	2.115	0.58683	M	0.63	0.53088	T	-0.11	0.08653	N	0.129	0.12341	-0.9285	0.44357	T	0.123	0.42589	T	10	0.058574677	0.06907	T	0.005201	0.13248	T	0.128	0.35103	0.341	0.33302	0.428169733428	0.42434	0.23500268934532034	0.23415	0.0844667912105	0.09542	0.257001668215	0.04540	T	0.012832	0.11210	T	-0.248544	0.14279	T	-0.594793	0.13253	T	0.124164062241365	0.14832	T	0.626037	0.24205	T	0.07393395	0.16556	0.053482354	0.09018	0.07393395	0.16555	0.053482354	0.09018	-5.988	0.46179	T	.	.	0.073	0.04477	B	.	.	0.764482	0.11341	7.961	0.63272136431199155	0.07180	0.21676	0.21485	N	AEFI	0.175134	0.30229	N	-0.486500131997058	0.22523	1.203204	-0.444494743368801	0.23705	1.29416	3.3332960385866E-5	0.03775	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.93	5.05	0.67566	-0.778000	0.04770	-0.714000	0.07736	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.926000	0.46234	0.1843:0.6606:0.0:0.1551	5.219	0.14680	938	0.14419	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	0	0	0	0	0.02381	152.98	109	chr2	124798176	.	C	G	152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.018e+00;DP=1647;ExcessHet=0.0000;FS=160.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=1.90;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,52:285:99:0|1:124798175_C_G:167,0,7487:124798175	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	0/1:203,149,0:352:99:.:.:3496,0,5214,4104,5661,9766	4	10	6	0
chr2	131125798	131125798	C	T	exonic	PLEKHB2	.	nonsynonymous SNV	PLEKHB2:NM_001100623:exon3:c.C83T:p.S28L	.	.	.	.	.	.	.	.	.	.	.	3373195	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.38	T	1.0	D	0.998	D	0.004	U	1.000	D	0.94	L	-1.21	T	-0.353	T	0.440	T	0.39	1.385	10.56	4.05	1.213	5.240	11.354	0.389	0.144167140299	0.0002	0.000199681	4.943e-05	0	8.639e-05	0	0	7.493e-05	0	0	7.76e-05	12	154602	rs201430764	8.28e-05	8.345e-05	7.49e-05	9.078e-05	7.197e-05	7.071e-05	6.62e-05	5.886e-05	5.453e-05	2.988e-05	2.236e-05	0	0	0.0006	0	7.197e-05	0.0001	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.13e-05	5.779e-05	9.06e-05	7.021e-05	0	0	0	0	0	0.0006	0	0.0002	0	0	1.0	0.21968	T	1.0	0.51737	T	0.327	0.90584	B	0.018	0.70837	B	0.004016	0.34221	U	0.242201	0.999972	0.81001	D	1.385	0.34509	L	-1.21	0.78645	T	-1.17	0.32791	N	0.661	0.69474	-0.3526	0.73478	T	0.440	0.77846	T	10	0.35780597	0.52488	T	0.144167	0.82645	D	0.389	0.70521	.	.	0.857241831496	0.85586	0.36715917577935037	0.36629	0.961546008612	0.73030	0.703975141048	0.67719	T	0.030266	0.66134	T	-0.145155	0.29072	T	-0.197972	0.54839	T	0.156307184842706	0.17595	T	0.774523	0.48291	T	0.12595287	0.29512	0.0835982	0.19169	0.12595287	0.29512	0.0835982	0.19169	-7.541	0.60407	D	.	.	0.109	0.57610	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.978354	0.39716	21.0	0.96828406691932811	0.31255	0.95225	0.63902	D	AEFBI	0.581081	0.58124	D	-0.0157652198506623	0.41142	2.455657	0.0594853666958808	0.42531	2.574	0.997980798473197	0.36275	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.93	4.05	0.46415	5.369000	0.65892	.	.	-0.212000	0.08331	1.000000	0.71638	0.999000	0.35428	0.959000	0.51448	0.0:0.91:0.0:0.09	11.354	0.48846	872	0.31118	.;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1300.98	36	chr2	131125798	.	C	T	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-01;DP=897;ExcessHet=0.0000;FS=4.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-1.136e+00;SOR=0.360	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1315,0,1362	20	0	1	0
chr2	135153721	135153721	G	C	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon19:c.G2134C:p.V712L	Warburg micro syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.01	B	0.002	N	1.000	D	0.585	N	0.96	T	-1.087	T	0.066	T	0.317	2.570	14.55	4.52	1.299	5.702	11.248	0.026	0.00916011762551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.07695	T	0.454	0.12884	T	0.001	0.07471	B	0.007	0.12992	B	0.002121	0.37183	N	0.258170	0.998365	0.44821	D	1.04	0.26193	L	0.96	0.42888	T	-1.06	0.28290	N	0.353	0.39457	-1.0865	0.06138	T	0.066	0.27156	T	10	0.115828454	0.21834	T	0.00916	0.24083	T	0.026	0.05648	0.189	0.09907	0.474954162714	0.47126	0.36482779472885013	0.36396	0.223275487687	0.24858	0.541095495224	0.44599	T	0.124802	0.45008	T	-0.150491	0.28235	T	-0.453947	0.27260	T	0.419142510498911	0.29659	T	0.880112	0.59716	D	0.040517136	0.05797	0.05471902	0.09465	0.040517136	0.05797	0.05471902	0.09464	-6.345	0.51130	T	0.513049502216929	0.58652	0.141	0.31074	B	.;.;.	.;.;.	2.968655	0.39555	21.0	0.99014009082590748	0.50420	0.98239	0.80830	D	AEFBI	0.655320	0.62770	D	-0.175366295483999	0.34163	1.946633	0.0285534360724214	0.41047	2.459518	0.552661290633918	0.21348	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.52	0.54797	5.813000	0.68876	8.694000	0.78086	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1466:0.0:0.8534:0.0	11.248	0.48238	862	0.33134	.;.;.	.	.	.	.	.	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	0.02632	68.72	36	chr2	135153721	.	G	C	68.72	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.489e+00;DP=1479;ExcessHet=0.0000;FS=187.793;InbreedingCoeff=-0.0500;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=1.23;SOR=9.437	GT:AD:DP:GQ:PL	0/1:139,41:180:82:82,0,2950	18	0	1	2
chr2	149582194	149582194	T	G	exonic	MMADHC	.	nonsynonymous SNV	MMADHC:NM_015702:exon3:c.A87C:p.K29N,	Homocystinuria, cblD type, variant 1, Autosomal recessive;Methylmalonic aciduria and homocystinuria, cblD type, Autosomal recessive;Methylmalonic aciduria, cblD type, variant 2, Autosomal recessive	.	1	1507	14	0	0	14	0.00462351	.	.	284564	not_specified|not_provided|Methylmalonic_aciduria_and_homocystinuria_type_cblD|Disorders_of_Intracellular_Cobalamin_Metabolism	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283|MedGen:CN043592	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.21	B	0.213	B	0.001	D	0.999	N	1.085	L	-2.41	D	-0.389	T	0.371	T	0.048	2.829	15.42	4.7	1.876	1.321	7.511	0.327	.	0.0083	0.00559105	0.0088	0.0018	0.0064	0	0.0173	0.0122	0.0121	0.0021	0.0086092	1331	154602	rs61750442	0.0096	0.0096	0.0099	0.0093	0.0107	0.0095	0.0094	0.0106	0.0105	0.0018	0.0067	0.0022	0	0.0176	0.0035	0.0107	0.0091	0.0023	0.0074	0.0074	0.0069	0.0079	0.0105	0.0070	0.0069	0.0098	0.0096	0.0019	0	0.0081	0.0017	0	0.0167	0	0.0105	0.0104	0.0017	0.006	0.65419	D	0.004	0.76473	D	0.14	0.29968	B	0.213	0.37437	B	0.000624	0.42799	D	0.258524	0.999375	0.21289	N	1.52	0.38360	L	-2.41	0.88533	D	-1.34	0.33401	N	0.56	0.59901	-0.3885	0.72389	T	0.371	0.72993	T	10	0.010101467	0.00226	T	.	.	.	0.327	0.64926	0.613	0.74652	0.771221540755	0.76912	0.37686213649392164	0.37601	0.0648658095776	0.07242	0.326800614595	0.14451	T	0.315313	0.74842	T	-0.437537	0.01337	T	-0.388295	0.34751	T	0.0194967862203156	0.00653	T	0.844815	0.53849	T	0.13332705	0.31015	0.0991525	0.23663	0.13224386	0.30799	0.0991525	0.23662	-4.911	0.35858	T	0.551726111235236	0.62026	0.553	0.72704	A	.;.;.	.;.;.	3.700983	0.52779	23.3	0.99735422206405644	0.83119	0.94504	0.61379	D	AEFBI	0.403007	0.47686	N	-0.0894842385370937	0.37853	2.208302	0.0333076615415787	0.41272	2.476783	0.999990894831856	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.7	4.7	0.58776	1.253000	0.32488	5.086000	0.47311	0.609000	0.47794	0.854000	0.30511	1.000000	0.68203	0.987000	0.62547	0.0:0.1705:0.0:0.8295	7.511	0.26744	840	0.37365	.;.;.	.	.	.	.	rs61750442	Likely benign	0	0	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	1280.98	33	chr2	149582194	.	T	G	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.862;DP=790;ExcessHet=0.0000;FS=3.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-2.072e+00;SOR=1.101	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1295,0,851	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	0/1:5,13,0,0:18:99:283,0,99,343,133,586,343,133,586,586	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	0/1:5,13,0,0:18:99:283,0,99,343,133,586,343,133,586,586	1	6	10	0
chr2	151512812	151512812	A	G	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon133:c.T18128C:p.M6043T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	0	1507	15	0	0	15	0.00495213	.	.	177067	not_specified|not_provided|NEB-related_disorder|Nemaline_myopathy_2	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.59	T	0.996	D	0.966	D	0.000	D	1.000	D	1.04	L	1.54	T	-0.836	T	0.209	T	0.777	2.878	15.59	5.72	2.311	5.230	16.299	0.088	0.0265597914517	0.0015	0.000199681	0.0018	0.0002	0.0004	0	0	0.0026	0.0037	0.0017	0.0014424	223	154602	rs201767727	0.0015	0.0015	0.0014	0.0015	0.0042	0.0014	0.0014	0.0029	0.0024	0.0001	0.0006	0.0162	0	0.0002	0.0042	0.0013	0.0020	0.0014	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0009	0.0003	0	0.0003	0.0187	0	9.425e-05	0.0102	0.0011	0.0005	0.0014	0.268	0.16144	T	0.114	0.44905	T	0.996	0.68779	D	0.93	0.66466	D	0.000000	0.84330	D	0.085543	0.997174	0.43684	D	1.035	0.25616	L	0.9	0.45248	T	-2.57	0.55501	D	0.665	0.91276	-0.8362	0.52898	T	0.209	0.56812	T	10	0.0072886944	0.00166	T	0.02656	0.49457	D	0.219	0.51417	.	.	0.54294064856	0.53946	0.10906890648319095	0.10835	0.325890546285	0.34736	0.733500659466	0.72018	T	0.043184	0.44593	T	-0.255524	0.13429	T	-0.169898	0.57453	T	0.0353002263818053	0.02860	T	0.850515	0.68393	D	0.46223137	0.64809	0.41840926	0.65866	0.42844704	0.62651	0.43272364	0.66849	-2.703	0.09632	T	.	.	0.272	0.50572	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.649817	0.51790	23.1	0.94645462078591625	0.25246	0.95120	0.63511	D	AEFBI	0.755140	0.69480	D	0.317342865222644	0.57037	3.869821	0.430055078599464	0.63447	4.578478	0.976110644675405	0.29695	0.638212	0.43195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.72	5.72	0.89380	5.192000	0.64953	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.299	0.82622	856	0.34373	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	2192.98	37	chr2	151512812	.	A	G	2192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.474e+00;DP=879;ExcessHet=0.0000;FS=0.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.917;SOR=0.643	GT:AD:DP:GQ:PL	0/1:91,99:190:99:2207,0,2296	20	0	1	0
chr2	151563644	151563644	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon91:c.G13516A:p.V4506M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.996	D	0.993	D	0.000	D	1.000	D	0.58	N	1.4	T	-0.970	T	0.143	T	0.769	3.628	18.45	5.54	2.765	4.778	19.843	0.185	0.0257429881797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.004	0.76473	D	0.991	0.64070	D	0.957	0.69900	D	0.000002	0.62929	D	0.057522	0.999869	0.50061	D	1.435	0.35949	L	1.4	0.33630	T	-0.98	0.30964	N	0.679	0.73735	-0.9702	0.37157	T	0.143	0.46532	T	10	0.41652066	0.56578	T	0.025743	0.48694	D	0.185	0.45933	0.468	0.54052	0.384252928164	0.38032	0.4368378146436939	0.43600	0.342242573836	0.36158	0.645839691162	0.59394	T	0.033276	0.65956	T	0.0402236	0.57075	T	-0.179998	0.56523	T	0.845594756587734	0.49790	D	0.922208	0.81197	D	0.20621848	0.42789	0.21098427	0.45508	0.20621848	0.42789	0.21098427	0.45507	-2.408	0.05182	T	.	.	0.354	0.56831	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.824449	0.55248	23.6	0.99645059197829022	0.76943	0.96783	0.70916	D	AEFBI	0.737525	0.68269	D	0.54096491380808	0.69532	5.370566	0.593621167541424	0.74479	6.144403	0.998184138364493	0.36545	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	4.834000	0.62463	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:1.0:0.0:0.0	19.843	0.96691	901	0.24189	.;.;.;.;.;.;.;.	.	.	.	.	.	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	2315.98	33	chr2	151563644	.	C	T	2315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.980e-01;DP=870;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-2.170e-01;SOR=0.611	GT:AD:DP:GQ:PL	0/1:73,97:170:99:2330,0,1655	20	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:126,54:180:53:53,0,2102	3	0	15	3
chr2	158815810	158815810	C	T	exonic	DAPL1	.	stopgain	DAPL1:NM_001017920:exon4:c.C313T:p.R105X,	.	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.883	28.0	5.82	2.756	4.718	17.602	.	.	0.0042	0.00199681	0.0041	0.0007	0.0023	0	0	0.0060	0.0044	0.0035	0.0043143	667	154602	rs138143887	0.0054	0.0055	0.0055	0.0054	0.0062	0.0053	0.0053	0.0061	0.0061	0.0016	0.0028	0.0087	5.041e-05	0.0005	0.0061	0.0062	0.0052	0.0028	0.0039	0.0039	0.0038	0.0039	0.0061	0.0036	0.0035	0.0056	0.0054	0.0011	0	0.0040	0.0104	0	0.0005	0.0034	0.0061	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.935821	0.81001	D	.	.	.	.	.	.	.	.	.	0.319	0.35938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280891	0.81392	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.843250	0.99367	43	0.997242230251698	0.82266	0.89370	0.49794	D	AEFDGBIJ	0.096972	0.19567	N	0.904317775879345	0.91971	11.16241	0.80208606730091	0.89937	10.18559	0.99999829693348	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.82	5.82	0.92740	5.043000	0.64012	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.602	0.87929	910	0.22284	.	.	.	.	.	.	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	1541.98	33	chr2	158815810	.	C	T	1541.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-2.800e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:86,68:154:99:1556,0,1924	20	0	1	0
chr2	169608732	169608732	G	C	exonic	PPIG	.	nonsynonymous SNV	PPIG:NM_004792:exon7:c.G351C:p.K117N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.988	D	0.000	D	1.000	D	2.02	M	0.96	T	-0.794	T	0.206	T	0.418	2.371	13.89	0.397	-0.157	1.193	11.092	0.261	0.01944597803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.379e-06	7.526e-06	2.746e-06	0	2.244e-05	2.3e-07	9e-08	.	.	0	2.244e-05	0	0	0	0	9.069e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.975	0.77976	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	1.945	0.52268	M	0.96	0.42888	T	-4.16	0.77798	D	0.63	0.74553	-0.7942	0.55485	T	0.206	0.56458	T	10	0.52530545	0.62874	D	0.019446	0.41815	T	0.261	0.57352	0.526	0.63115	0.430901523487	0.42706	0.8581340116100287	0.85776	2.18312323932	0.95585	0.858037412167	0.90821	D	0.254366	0.62501	T	-0.0820767	0.39377	T	-0.355674	0.38553	T	0.984650313854218	0.75892	D	0.948505	0.80194	D	0.86334527	0.88342	0.718911	0.83405	0.86334527	0.88343	0.718911	0.83406	-14.686	0.95073	D	.	.	0.997	0.96865	P	.;.;.;.;.;.	.;.;.;.;.;.	3.966139	0.58200	24.0	0.96150424860349593	0.28866	0.91014	0.52693	D	AEFBI	0.577529	0.57909	D	0.27786992997667	0.55027	3.667272	0.181881338303824	0.48854	3.095905	6.26995957631514E-5	0.04366	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	0.397	0.15537	1.197000	0.31819	2.109000	0.30648	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.4296:0.0:0.5704:0.0	11.092	0.47339	688	0.59122	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;.;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain;Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase 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	0.04762	64.72	41	chr2	169608732	.	G	C	64.72	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.466e+00;DP=1165;ExcessHet=0.1072;FS=72.029;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.024;MQ=59.99;MQRankSum=0.00;QD=0.33;ReadPosRankSum=1.37;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,17:123:2:.:.:2,0,2249	19	0	2	0
chr2	171868760	171868760	G	C	exonic	SLC25A12	.	nonsynonymous SNV	SLC25A12:NM_003705:exon3:c.C130G:p.L44V,	Epileptic encephalopathy, early infantile, 39, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.685	P	0.000	D	1.000	D	1.615	L	-2.34	D	0.415	D	0.649	D	0.522	3.141	16.50	4.77	1.615	7.198	16.230	0.608	0.172312738213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.211	0.26631	T	0.988	0.62325	D	0.685	0.53610	P	0.000051	0.53742	D	0.127979	0.999945	0.81001	D	1.74	0.45129	L	-2.34	0.87989	D	-2.61	0.56144	D	0.661	0.67045	0.415	0.89320	D	0.649	0.87762	D	10	0.7119132	0.73099	D	0.172313	0.84933	D	0.608	0.84613	0.345	0.33950	0.77984530462	0.77781	0.42970187115032454	0.42887	1.24468813859	0.81636	0.689796805382	0.65677	T	0.537436	0.84101	D	0.133401	0.67690	D	-0.0461546	0.67285	D	0.973421990871429	0.70091	D	0.966503	0.87759	D	0.5725574	0.71201	0.30958068	0.56972	0.5725574	0.71202	0.30958068	0.56971	-8.776	0.66244	D	0.5680659298809736	0.63539	0.543	0.66480	A	.	.	4.485238	0.70018	25.5	0.99598157664423459	0.74042	0.98143	0.79968	D	AEFBI	0.876672	0.80082	D	0.595340053827147	0.72882	5.876355	0.61284353438413	0.75874	6.388005	0.942851622466203	0.27541	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	4.77	0.60425	7.425000	0.79444	11.903000	0.99411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.8663:0.1337	16.230	0.82154	385	0.83500	.	.	.	.	.	.	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	1613.98	35	chr2	171868760	.	G	C	1613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.186e+00;DP=811;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-2.343e+00;SOR=0.833	GT:AD:DP:GQ:PL	0/1:52,70:122:99:1628,0,1182	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/1:34,45,0:79:99:1083,0,785,1185,920,2105	10	2	8	0
chr2	176100031	176100031	T	C	exonic	HOXD12	.	nonsynonymous SNV	HOXD12:NM_021193:exon1:c.T230C:p.L77P,	.	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	N	1.000	D	2.645	M	0.73	T	-0.562	T	0.229	T	0.33	2.428	14.08	4.12	0.843	5.187	9.528	0.217	0.226537407909	.	0.000998403	0.0012	0.0007	0.0048	0	0.0012	0.0020	0	0	0.0005951	92	154602	rs201839891	0.0011	0.0011	0.0012	0.0011	0.0018	0.0011	0.0011	0.0012	0.0012	0.0002	0.0014	0.0016	0	6.234e-05	0.0018	0.0013	0.0013	3.693e-05	0.0009	0.0009	0.0009	0.0008	0.0014	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0014	0.0017	0	0.0003	0.0068	0.0012	0.0014	0	0.051	0.41637	T	0.01	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.001356	0.39310	N	0.222876	0.999992	0.58761	D	2.69	0.78713	M	0.73	0.50721	T	-3.78	0.81910	D	0.361	0.83269	-0.5617	0.66339	T	0.229	0.59459	T	10	0.018804818	0.00413	T	0.226537	0.88049	D	0.217	0.51112	.	.	0.801191154241	0.79933	0.5866705117231026	0.58597	0.723154558357	0.62320	0.745763540268	0.73821	T	0.490089	0.81504	T	-0.368477	0.03672	T	-0.342602	0.40049	T	0.0826490995073038	0.10323	T	0.762724	0.38847	T	0.6446731	0.75080	0.6762694	0.80989	0.6446731	0.75081	0.6762694	0.80990	-3.373	0.14695	T	.	.	0.124	0.51463	B	.;.	.;.	4.021256	0.59398	24.1	0.99672388057173844	0.78652	0.92091	0.54924	D	AEFDBCI	0.681937	0.64512	D	0.521936829652896	0.68389	5.210406	0.411411761857804	0.62274	4.440194	0.99997307440619	0.50053	0.59774	0.34471	0	0.59043	0.45803	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	5.28	4.12	0.47504	5.252000	0.65263	6.214000	0.55048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0812:0.0:0.9188	9.528	0.38340	727	0.54702	.;.	.	.	.	.	.	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	1770.98	33	chr2	176100031	.	T	C	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.086e+00;DP=858;ExcessHet=0.0000;FS=1.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=-6.870e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/1:66,76:142:99:1785,0,1740	20	0	1	0
chr2	181493408	181493408	A	G	exonic	ITGA4	.	nonsynonymous SNV	ITGA4:NM_000885:exon11:c.A1237G:p.T413A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.0	B	0.001	B	0.160	N	1.000	N	1.15	L	0.55	T	-0.998	T	0.080	T	0.098	-0.307	2.537	-4.13	-0.553	-0.636	8.186	0.030	0.0125073645802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.071e-06	2.736e-06	0	4.158e-06	3.016e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	3.016e-05	0	0	0	0	0	1.817e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.876	0.04636	T	0.0	0.02946	B	0.001	0.04355	B	0.159978	0.17694	N	0.646588	1	0.08975	N	0.49	0.13296	N	0.55	0.54728	T	-0.62	0.25118	N	0.081	0.05670	-0.9976	0.30590	T	0.080	0.31765	T	10	0.056267917	0.06281	T	0.012507	0.31146	T	0.030	0.07022	0.178	0.08503	0.669547798661	0.66676	0.3793797707855381	0.37852	0.502331297958	0.48594	0.229748874903	0.01949	T	0.243526	0.61247	T	-0.284423	0.10204	T	-0.64633	0.09214	T	0.0927875116467476	0.11545	T	0.537746	0.21167	T	0.03923722	0.05378	0.026750963	0.00782	0.03923722	0.05378	0.026750963	0.00782	-3.55	0.17139	T	.	.	0.061	0.02399	B	.;.	.;.	-0.309460	0.02575	0.315	0.46922451448991614	0.03796	0.03321	0.08390	N	AEFBI	0.049043	0.08432	N	-1.51269500383643	0.01766	0.0773408	-1.54958217610963	0.01979	0.09038257	0.028798189858735	0.13851	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.83	-4.13	0.03639	-0.729000	0.05024	-0.111000	0.11829	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.6057:0.0:0.2505:0.1438	8.186	0.30502	852	0.35056	.;.	.	.	.	.	.	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	856.98	35	chr2	181493408	.	A	G	856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=788;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.597;SOR=0.846	GT:AD:DP:GQ:PL	0/1:44,33:77:99:871,0,1098	20	0	1	0
chr2	190294620	190294620	T	C	exonic	HIBCH	.	nonsynonymous SNV	HIBCH:NM_014362:exon4:c.A230G:p.Q77R	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	.	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.001	B	0.003	B	0.017	N	1.000	D	0.28	N	-0.32	T	-0.986	T	0.161	T	0.114	1.682	11.58	3.92	0.742	2.395	9.288	0.040	0.0123997720762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.19430	T	0.404	0.14818	T	0.001	0.07471	B	0.003	0.08700	B	0.017128	0.27801	N	0.419415	0.98105	0.39733	D	0.03	0.08032	N	-0.32	0.71068	T	-1.15	0.32185	N	0.208	0.23380	-0.9862	0.33542	T	0.161	0.49548	T	10	0.16028011	0.30093	T	0.012	0.30939	T	0.040	0.10527	0.372	0.38340	0.751349547757	0.74909	0.33778741835876647	0.33691	0.0349017754887	0.03680	0.319298118353	0.13314	T	0.264421	0.78474	T	-0.134663	0.30744	T	-0.431211	0.29798	T	0.309904128313065	0.25410	T	0.759024	0.38317	T	0.12610678	0.29546	0.10806757	0.26027	0.12610678	0.29546	0.10806757	0.26027	-5.234	0.39386	T	0.11547642510905427	0.10335	0.096	0.16582	B	.;.;.	.;.;.	2.550998	0.33015	19.22	0.97762895104451919	0.35819	0.88284	0.48142	D	AEFBI	0.362716	0.45187	N	-0.416230549547508	0.24900	1.347794	-0.225186236813305	0.30637	1.726689	0.00900199985644263	0.11780	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.11	3.92	0.44525	2.626000	0.46126	3.483000	0.38662	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0877:0.0:0.9123	9.288	0.36932	511	0.75131	.;.;.	.	.	.	.	.	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	674.98	35	chr2	190294620	.	T	C	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=1.23;SOR=0.631	GT:AD:DP:GQ:PL	0/1:54,34:88:99:689,0,1312	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	0/1:59,42:101:99:420,0,874	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	0/1:31,5,0,3:39:2:2,0,690,117,744,988,25,653,949,1069	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	0/1:31,5,0,3:39:2:2,0,690,117,744,988,25,653,949,1069	2	0	4	0
chr2	199925669	199925669	C	T	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.C941T:p.P314L,	.	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.966	D	0.000	D	1.000	D	1.465	L	.	.	-0.398	T	0.370	T	0.533	2.873	15.57	5.63	2.636	2.609	18.667	0.397	0.00537036326544	.	.	6.631e-05	0	0	0	0	0.0001	0	6.059e-05	5.82e-05	9	154602	rs751350941	4.926e-05	4.925e-05	5.037e-05	4.814e-05	0.0002	3.993e-05	3.67e-05	4.613e-05	4.197e-05	0	4.473e-05	0	0	0	0.0002	5.756e-05	4.97e-05	2.319e-05	5.91e-05	5.906e-05	7.71e-05	4.03e-05	0.0001	3.076e-05	2.209e-05	4.766e-05	3.34e-05	0	0	6.54e-05	0	0	0	0.0034	0.0001	0	0	0.08	0.33585	T	0.175	0.29945	T	0.999	0.77913	D	0.966	0.71341	D	0.000029	0.55875	D	0.157668	0.999987	0.54805	D	1.935	0.51832	L	.	.	.	-3.7	0.70553	D	0.497	0.53006	-0.3980	0.72090	T	0.370	0.72978	T	9	0.35844475	0.52537	T	0.00537	0.13771	T	0.397	0.71163	.	.	0.186928172975	0.18263	0.6187170171674948	0.61804	0.371526058029	0.38651	.	.	.	0.050434	0.28595	T	-0.123891	0.32490	T	-0.200403	0.54608	T	0.327375201689722	0.26119	T	0.911709	0.68653	D	0.22579259	0.45247	0.1871449	0.41929	0.22579259	0.45247	0.1871449	0.41928	-6.868	0.53063	T	.	.	0.119	0.24464	B	.	.	4.515972	0.70766	25.6	0.99681129190196172	0.79241	0.91704	0.54087	D	AEFGBI	0.255738	0.37480	N	0.611540969837049	0.73903	6.043	0.623850215528054	0.76676	6.535059	0.999380382385154	0.39415	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.63	5.63	0.86108	2.637000	0.46219	7.712000	0.66855	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.667	0.91452	639	0.64210	.	.	.	.	.	.	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	1161.98	33	chr2	199925669	.	C	T	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.062e+00;DP=821;ExcessHet=0.0000;FS=3.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=-1.049e+00;SOR=0.998	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1176,0,1539	20	0	1	0
chr2	200864100	200864100	C	T	splicing	CLK1	NM_001162407:exon1:c.126+1G>A	.	.	.	.	423	1097	2	0	0	2	0.000910747	1.0000	0.676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	D	.	.	.	.	.	.	.	.	.	0.000	4.015	-0.434	-0.123	0.235	4.059	.	.	.	0.000199681	9.368e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs75648691	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	0	0.0003	0	0	0	0.0007	0.0002	0.0001	2.54e-05	9.844e-05	9.842e-05	0.0002	4.025e-05	0.0002	5.999e-05	4.874e-05	0.0001	9.897e-05	0	0	6.533e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630681	0.32787	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.618819	0.00112	T	-0.819251	0.01467	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.045958	0.14271	10.85	0.68979795220956219	0.08826	0.00361	0.01848	N	ALL	.	.	.	-0.0323661827113463	0.40393	2.398036	-0.4905243623663	0.22413	1.217267	0.999999997930018	0.74766	0.075627	0.01787	0	0.090139	0.02499	0	0.03606	0.00165	1	0.143876	0.04018	0	0.10436	0.22835	1.72	-0.434	0.11670	0.236000	0.17745	-0.591000	0.08322	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5022:0.0:0.4978	4.059	0.09308	347	0.85595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2180.98	34	chr2	200864100	.	C	T	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=969;ExcessHet=0.0000;FS=2.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-3.620e-01;SOR=0.841	GT:AD:DP:GQ:PL	0/1:144,102:246:99:2195,0,3363	20	0	1	0
chr2	201880153	201880153	A	G	exonic	CDK15	.	nonsynonymous SNV	CDK15:NM_001261435:exon12:c.A1184G:p.Y395C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.793	P	0.487	P	0.493	N	0.937	D	1.525	L	-0.39	T	-0.752	T	0.233	T	0.327	3.060	16.21	2.43	0.173	1.416	4.921	0.102	0.059597392584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.33418	T	0.13	0.49390	T	.	.	.	.	.	.	0.492752	0.12038	N	0.773321	0.937309	0.37186	D	1.445	0.36358	L	-0.42	0.69536	T	-4.04	0.74427	D	0.357	0.44283	-0.7522	0.57820	T	0.233	0.59904	T	10	0.3146265	0.48902	T	0.059597	0.67717	D	0.102	0.29158	0.403	0.43408	0.69386598177	0.69122	0.3036952532869187	0.30282	0.168924006569	0.19044	0.30390894413	0.10987	T	.	.	.	-0.0593391	0.43010	T	-0.323013	0.42243	T	0.573856174945831	0.35383	D	0.952105	0.88706	D	.	.	.	.	.	.	.	.	-3.786	0.31330	T	.	.	0.080	0.10594	B	.;.;.;.	.;.;.;.	2.509493	0.32405	19.03	0.99504565920639509	0.68264	0.91688	0.54053	D	AEFDBIJ	0.355902	0.44747	N	0.053673039531949	0.44312	2.707526	0.0626752725957319	0.42689	2.586437	0.999983645200668	0.51787	0.603402	0.35316	0	0.624306	0.53593	0	0.657636	0.52715	0	0.663205	0.64265	0	.	.	6.17	2.43	0.28797	1.532000	0.35634	.	.	0.756000	0.94297	0.990000	0.36992	0.999000	0.35428	0.913000	0.44837	0.6961:0.1234:0.063:0.1176	4.921	0.13222	116	0.95299	.;.;.;.	.	.	.	.	.	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	1442.98	37	chr2	201880153	.	A	G	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.410e-01;DP=814;ExcessHet=0.0000;FS=2.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=1.87;SOR=0.467	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1457,0,1340	20	0	1	0
chr2	205615460	205615460	G	C	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon22:c.G3058C:p.G1020R	.	.	416	1101	5	0	0	5	0.00226552	.	.	2266491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.001	N	0.911	D	1.905	M	2.59	T	-0.912	T	0.104	T	0.49	2.134	13.09	4.29	0.910	5.017	13.191	0.186	0.016244658253	0.0002	0.000399361	0.0005	0.0002	0.0007	0	0	0.0007	0.0012	0	0.0004851	75	154602	rs193187748	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	6.12e-05	0.0011	4.104e-05	0	3.795e-05	0.0011	0.0004	0.0004	7.277e-05	0.0004	0.0004	0.0003	0.0005	0.0016	0.0003	0.0003	0.0011	0.0010	4.814e-05	0	0.0016	0	0	0.0002	0	0.0004	0	0.0004	0.004	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000633	0.42799	N	0.105398	0.911437	0.36422	D	2.57	0.75187	M	2.59	0.15843	T	-1.98	0.46146	N	0.53	0.73826	-0.9123	0.46569	T	0.104	0.38169	T	10	0.036987484	0.02027	T	0.016245	0.37414	T	0.186	0.46104	0.247	0.18293	0.469826472337	0.46610	0.31798902244741967	0.31711	0.19097760818	0.21418	0.599527895451	0.52837	T	0.010219	0.25277	T	-0.385048	0.02894	T	-0.376312	0.36154	T	0.0785529174815552	0.09801	T	0.945305	0.79188	D	0.09247276	0.21695	0.13827808	0.33028	0.09247276	0.21694	0.13827808	0.33028	-2.049	0.05053	T	.	.	0.246	0.48018	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.341217	0.46043	22.2	0.99555551238193229	0.71397	0.96227	0.68120	D	AEFBI	0.631197	0.61226	D	-0.0796649417544212	0.38284	2.239974	-0.0640798595359811	0.36887	2.152511	0.912262265444728	0.26390	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	6.07	4.29	0.50359	5.833000	0.69056	5.790000	0.49863	-0.642000	0.04431	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.1242:0.0:0.8758:0.0	13.191	0.59132	882	0.29131	.;.;.;.;.;.;.	.	.	.	.	.	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	961.98	33	chr2	205615460	.	G	C	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.048e+00;DP=783;ExcessHet=0.0000;FS=0.826;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.761;SOR=0.567	GT:AD:DP:GQ:PL	0/1:51,39:90:99:976,0,1377	20	0	1	0
chr2	206009583	206009583	T	C	exonic	INO80D	.	nonsynonymous SNV	INO80D:NM_017759:exon9:c.A1754G:p.H585R,	.	.	427	1084	11	0	0	11	0.00504819	.	.	697261	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.199	N	1.000	N	0.69	N	1.54	T	-1.006	T	0.025	T	0.027	0.584	7.154	-0.695	-0.103	1.785	5.579	0.076	.	0.0071	0.00139776	0.0068	0.0014	0.0027	0	0.0153	0.0098	0.0078	0.0006	0.0065458	1012	154602	rs144598064	0.0080	0.0080	0.0080	0.0079	0.0097	0.0078	0.0078	0.0087	0.0086	0.0011	0.0038	0.0093	2.52e-05	0.0153	0.0097	0.0088	0.0073	0.0007	0.0086	0.0086	0.0080	0.0091	0.0118	0.0082	0.0080	0.0112	0.0109	0.0013	0.1075	0.0042	0.0110	0.0002	0.0212	0.0034	0.0118	0.0043	0.0010	0.586	0.05881	T	0.667	0.06365	T	0.0	0.02946	B	0.0	0.01387	B	0.198942	0.16650	N	0.655303	0.999969	0.18878	N	0.55	0.14455	N	1.54	0.30133	T	-0.97	0.25770	N	0.027	0.00571	-1.0057	0.28247	T	0.025	0.10777	T	10	0.0025288165	0.00038	T	.	.	.	0.076	0.22200	.	.	0.043077524339	0.03247	0.07182252728062584	0.07119	0.784832105031	0.65468	0.308417022228	0.11667	T	.	.	.	-0.679744	0.00048	T	-0.735556	0.04080	T	0.00176428672020891	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00625	B	.	.	1.317035	0.17209	13.02	0.64866371886898355	0.07612	0.61749	0.31576	D	AEFBI	0.054014	0.09785	N	-0.945326735392604	0.09798	0.4653177	-0.866453346636752	0.12892	0.6658287	0.117059824760342	0.16792	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	-0.695	0.10723	1.959000	0.40036	0.555000	0.19457	-0.120000	0.14102	1.000000	0.71638	0.954000	0.29108	0.526000	0.29613	0.0:0.2813:0.1337:0.585	5.579	0.16523	638	0.64280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1964.11	36	chr2	206009583	.	T	C	1964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=826;ExcessHet=0.1072;FS=0.575;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-2.720e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1128,0,896	19	0	2	0
chr2	206304824	206304824	A	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A296T:p.D99V	.	.	427	1082	12	1	0	14	0.00642792	.	.	2982334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.652	P	0.113	B	0.011	N	1.000	N	0.69	N	2.29	T	-1.025	T	0.026	T	0.353	0.659	7.532	1.49	0.649	-0.246	4.968	0.059	0.00150610793014	0.0009	0.00139776	0.0018	0	0.0011	0	0	0.0015	0.0022	0.0062	0.0016365	253	154602	rs149317779	0.0013	0.0013	0.0011	0.0015	0.0106	0.0013	0.0013	0.0085	0.0077	8.963e-05	0.0011	3.828e-05	2.519e-05	3.745e-05	0.0106	0.0010	0.0015	0.0075	0.0011	0.0011	0.0011	0.0010	0.0052	0.0009	0.0009	0.0036	0.0031	0.0003	0.0099	0.0012	0.0006	0	0	0.0102	0.0012	0.0033	0.0052	0.085	0.32769	T	0.033	0.53072	D	0.652	0.40767	P	0.113	0.31689	B	0.010663	0.01282	N	3.311150	1	0.08975	N	0.69	0.16971	N	2.29	0.17113	T	-1.64	0.39314	N	0.211	0.23506	-1.0246	0.22214	T	0.026	0.10954	T	10	0.005754322	0.00128	T	0.001506	0.02318	T	0.059	0.16972	.	.	0.209622950755	0.20551	0.039830665300983996	0.03929	0.341368232332	0.36070	0.259487062693	0.04830	T	0.01732	0.29940	T	-0.543983	0.00317	T	-0.550445	0.17284	T	0.0346557185982412	0.02749	T	.	.	.	0.10526064	0.24887	0.046848074	0.06619	0.10526064	0.24887	0.046848074	0.06618	-3.595	0.17785	T	.	.	0.111	0.26010	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.468404	0.08381	5.134	0.75972991080953822	0.11283	0.36710	0.25596	N	AEFBI	0.045790	0.07529	N	-0.832117958751698	0.12494	0.6093761	-0.974997277389136	0.10348	0.5206438	0.0099870363551659	0.11946	0.615465	0.37627	0	0.653731	0.59785	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	1.49	1.49	0.21966	-0.250000	0.08849	0.101000	0.14649	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.009000	0.08673	1.0:0.0:0.0:0.0	4.968	0.13450	885	0.28214	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1544.98	34	chr2	206304824	.	A	T	1544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=848;ExcessHet=0.0000;FS=3.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=0.204;SOR=0.559	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1559,0,1342	20	0	1	0
chr2	217848166	217848166	-	GCTGCT	exonic	TNS1	.	nonframeshift insertion	TNS1:NM_001308022:exon16:c.1975_1976insAGCAGC:p.Q659_P660insQQ	.	.	424	918	155	1	24	181	0.0787757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1844.05	115	chr2	217848163	.	GGCT	G,GGCTGCTGCT	1844.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.920e-01;DP=2103;ExcessHet=0.1072;FS=0.778;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=-3.000e-02;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,16,0:148:99:.:.:275,0,5320,672,5370,6041	19	0	1	0
chr2	218782265	218782265	A	C	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon1:c.A83C:p.K28T,	Cerebrotendinous xanthomatosis, Autosomal recessive	.	3	1518	1	0	0	1	0.000329272	.	.	492252	Intellectual_disability|Cholestanol_storage_disease|Cardiovascular_phenotype|not_provided	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.998	D	0.986	D	0.067	N	0.580	D	0.55	N	-0.94	T	-0.332	T	0.355	T	0.584	2.282	13.59	4.14	1.730	3.633	9.458	0.329	0.0634679372036	7.9e-05	.	0.0002	0.0007	0	0	0	0.0003	0	0	3.23e-05	5	154602	rs371449777	8.909e-05	8.824e-05	9.092e-05	8.722e-05	0.0002	7.6e-05	7.135e-05	9.76e-05	9.124e-05	0	0	0	0	0	0.0002	0.0001	1.709e-05	0	7.228e-05	7.223e-05	8.994e-05	5.379e-05	0.0002	3.971e-05	3.127e-05	5.844e-05	4.24e-05	4.823e-05	0	0	0	0	0	0	0.0001	0	0.0002	0.116	0.28395	T	0.526	0.10245	T	0.998	0.73220	D	0.986	0.76916	D	0.067450	0.21740	N	0.472592	0.579855	0.32365	D	0.975	0.24501	L	-0.94	0.75325	T	-0.62	0.18248	N	0.512	0.54322	-0.3317	0.74084	T	0.355	0.71819	T	10	0.46265993	0.59379	T	0.063468	0.68978	D	0.329	0.65126	.	.	0.730013675969	0.72761	0.41474417287627857	0.41390	0.716479101392	0.61995	0.855491638184	0.90441	D	0.237603	0.60532	T	-0.113327	0.34219	T	-0.174861	0.56997	T	0.105344646798586	0.12934	T	0.80472	0.45238	T	0.10032811	0.23688	0.08322085	0.19055	0.10032811	0.23688	0.08322085	0.19055	-2.742	0.07663	T	.	.	0.196	0.41708	B	.	.	3.864805	0.56067	23.7	0.99498976064605049	0.67916	0.94498	0.61359	D	AEFDBHCIJ	0.537198	0.55510	D	0.151588493066006	0.48888	3.095502	0.114628613450184	0.45296	2.795292	0.999999999997189	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.14	4.14	0.47821	3.635000	0.54050	7.277000	0.58009	0.582000	0.30178	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	1.0:0.0:0.0:0.0	9.458	0.37929	888	0.27761	.	.	.	.	.	.	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	351.98	38	chr2	218782265	.	A	C	351.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e-01;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.51;ReadPosRankSum=-2.399e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/1:22,15:37:99:366,0,572	20	0	1	0
chr2	219029469	219029469	G	T	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon10:c.C1389A:p.H463Q	.	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.557	P	0.111	B	0.705	N	1.000	D	2.015	M	3.59	T	-0.935	T	0.021	T	0.217	1.197	9.864	5.18	2.688	1.385	7.942	0.122	0.00514401937025	0.0004	0.000599042	0.0008	0	0.0014	0	0.0003	0.0011	0.0067	0.0003	0.0008085	125	154602	rs150200816	0.0005	0.0005	0.0005	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	0.0003	0.0020	0.0048	0	0.0001	0.0057	0.0003	0.0014	0.0006	0.0007	0.0007	0.0006	0.0008	0.0026	0.0006	0.0005	0.0020	0.0017	9.622e-05	0	0.0026	0.0058	0	0.0002	0	0.0003	0.0033	0.0010	0.451	0.10245	T	0.081	0.41742	T	0.557	0.38282	P	0.111	0.31539	B	0.705304	0.06227	N	1.166910	0.954511	0.26367	N	.	.	.	3.59	0.06368	T	-1.17	0.45587	N	0.337	0.39659	-0.9353	0.43349	T	0.021	0.08686	T	10	0.0089583695	0.00203	T	0.005144	0.13063	T	0.122	0.33800	0.446	0.50466	0.5073929853	0.50376	0.31062789499850624	0.30975	0.0791058433363	0.08898	0.219812646508	0.01299	T	0.025872	0.22241	T	-0.568736	0.00225	T	-0.59699	0.13065	T	0.0331956601018521	0.02503	T	0.541246	0.18617	T	0.097028	0.22865	0.08611691	0.19930	0.097028	0.22865	0.08611691	0.19929	-4.961	0.36414	T	.	.	0.135	0.31882	B	.;.;.;.;.	.;.;.;.;.	2.035897	0.25880	16.92	0.89779770804195913	0.19094	0.52168	0.29067	D	AEFDBCI	0.236329	0.35879	N	0.0325215651298387	0.43340	2.628782	0.121790523639878	0.45664	2.825702	0.802862119828783	0.24217	0.554377	0.28877	0	0.615948	0.52940	0	0.602189	0.34648	0	0.584449	0.35598	0	.	.	5.18	5.18	0.71140	1.429000	0.34511	3.374000	0.37954	0.676000	0.76740	0.875000	0.30889	1.000000	0.68203	0.789000	0.37270	0.0864:0.2137:0.6999:0.0	7.942	0.29125	595	0.68488	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7461.66	40	chr2	219029469	.	G	T	7461.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.775e+00;DP=1045;ExcessHet=0.0000;FS=0.954;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.26;ReadPosRankSum=0.604;SOR=0.779	GT:AD:DP:GQ:PL	0/1:89,95:184:99:2418,0,2288	19	1	1	0
chr2	219230327	219230327	C	G	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon2:c.C70G:p.P24A	.	.	435	1085	2	0	0	2	0.00092081	.	.	1345738	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.122	B	0.059	B	0.330	N	0.592	N	1.67	L	1.85	T	-1.030	T	0.050	T	0.272	1.129	9.602	2.73	0.882	0.196	4.570	0.036	0.00573193283726	0.0002	.	5.015e-05	0	0.0002	0	0	6.066e-05	0	0	4.53e-05	7	154602	rs372243770	6.157e-05	6.293e-05	5.99e-05	6.326e-05	0.0005	5.095e-05	4.715e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.486e-05	4.968e-05	5.798e-05	6.569e-05	6.566e-05	6.422e-05	6.723e-05	0.0003	3.516e-05	2.616e-05	8.877e-05	5.386e-05	2.412e-05	0	0.0003	0	0	0	0	2.939e-05	0.0014	0	0.532	0.41637	T	0.668	0.92824	T	0.075	0.24198	B	0.027	0.21085	B	0.329999	0.14130	N	0.718707	0.999845	0.31011	N	2.325	0.66631	M	1.85	0.24472	T	-1.08	0.96495	N	0.287	0.32481	-1.0298	0.20519	T	0.050	0.21222	T	10	0.059838295	0.07256	T	0.005732	0.14862	T	0.036	0.09122	.	.	0.555867075214	0.55247	0.1718900934841166	0.17109	0.110943649586	0.12524	0.433737635612	0.29719	T	0.002697	0.42389	T	-0.400117	0.02311	T	-0.478367	0.24620	T	0.0585170384869688	0.06932	T	0.580842	0.45757	T	0.050960246	0.09288	0.0655022	0.13284	0.050960246	0.09287	0.0655022	0.13283	-2.162	0.03860	T	.	.	0.060	0.06849	B	.;.;.;.;.	.;.;.;.;.	1.481081	0.19065	14.07	0.85755232149730631	0.16092	0.07958	0.13942	N	ALL	0.060196	0.11424	N	-0.549927170548765	0.20486	1.08028	-0.519454373841407	0.21626	1.170751	0.99999999998381	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.65	2.73	0.31266	0.221000	0.17463	1.652000	0.27851	0.594000	0.32500	0.014000	0.18986	0.024000	0.20971	0.424000	0.27317	0.157:0.6083:0.1518:0.0829	4.570	0.11600	546	0.72524	.;.;.;.;.	.	.	.	.	.	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	1082.98	35	chr2	219230327	.	C	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=790;ExcessHet=0.0000;FS=1.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.552;SOR=0.590	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1097,0,1106	20	0	1	0
chr2	219239114	219239114	G	A	exonic	GLB1L	.	nonsynonymous SNV	GLB1L:NM_001286427:exon8:c.C770T:p.A257V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.884	P	0.339	B	0.000	D	1.000	D	2.295	M	-4.75	D	0.834	D	0.878	D	0.367	3.314	17.14	4.74	2.937	4.646	9.888	0.581	0.0914000139502	.	.	1.648e-05	0	0	0	0	1.5e-05	0	6.058e-05	1.29e-05	2	154602	rs778219795	2.055e-06	2.052e-06	1.363e-06	2.753e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.658e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.022	0.57587	D	0.884	0.48618	P	0.339	0.42346	B	0.000002	0.62929	D	0.099485	0.999913	0.51042	D	1.9	0.50570	L	-4.75	0.98096	D	-3.1	0.67014	D	0.445	0.48411	0.834	0.94827	D	0.878	0.95945	D	10	0.44581026	0.58388	T	0.091	0.75699	D	0.581	0.83137	0.594	0.72371	0.921619882418	0.92082	0.838375923516556	0.83797	0.288172231167	0.31226	0.467142701149	0.34288	T	0.856751	0.96787	D	0.10945	0.65294	D	0.0200714	0.71635	D	0.939858973026276	0.61167	D	0.864914	0.56300	D	0.25219017	0.48232	0.23847152	0.49170	0.25219017	0.48232	0.23847152	0.49169	-6.652	0.57017	T	.	.	0.148	0.33319	B	.;.;.	.;.;.	4.047189	0.59964	24.2	0.99720897976497125	0.82054	0.93146	0.57445	D	AEFBCI	0.748875	0.69049	D	0.513931810312543	0.67914	5.145577	0.567073545251784	0.72592	5.834422	0.999858400130708	0.44174	0.634777	0.41761	0	0.601575	0.49859	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	5.64	4.74	0.59717	4.943000	0.63255	9.973000	0.82874	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0701:0.0:0.7927:0.1372	9.888	0.40443	546	0.72524	Glycoside hydrolase 35, catalytic domain;.;Glycoside hydrolase 35, catalytic 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	1194.98	34	chr2	219239114	.	G	A	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.018e+00;DP=785;ExcessHet=0.0000;FS=0.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.51;SOR=0.592	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1209,0,1236	20	0	1	0
chr2	219547901	219547901	G	A	exonic	TMEM198	.	nonsynonymous SNV	TMEM198:NM_001005209:exon3:c.G562A:p.A188T	.	.	435	1086	1	0	0	1	0.000460193	.	.	2216962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.125	B	0.042	B	0.012	N	1.000	N	-0.205	N	.	.	-1.052	T	0.041	T	0.136	3.129	16.46	3.97	2.219	2.997	10.014	0.070	0.00814605282033	.	.	4.637e-05	0	0	0	0	6.281e-05	0	7.577e-05	3.23e-05	5	154602	rs757055985	5.333e-05	5.951e-05	6.204e-05	4.453e-05	0.0004	4.331e-05	4.002e-05	6.228e-05	4.43e-05	0	2.258e-05	3.846e-05	0	0	0.0004	6.035e-05	6.661e-05	2.335e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.374	0.11406	T	0.506	0.16328	T	0.125	0.26866	B	0.042	0.24114	B	0.012100	0.29294	N	0.346611	1	0.08975	N	0.255	0.09829	N	.	.	.	-0.41	0.14000	N	0.123	0.11483	-1.0525	0.13709	T	0.041	0.17573	T	9	0.12872702	0.24489	T	0.008146	0.21598	T	0.070	0.20419	0.385	0.40460	0.0716867268079	0.06686	0.5500360897500179	0.54929	0.762172987685	0.64322	0.735573887825	0.72322	T	0.007531	0.07935	T	-0.187881	0.22570	T	-0.507654	0.21557	T	0.0797757833413998	0.09958	T	0.827517	0.49142	T	0.061662275	0.12792	0.070773855	0.15078	0.061662275	0.12792	0.070773855	0.15077	-4.712	0.33549	T	.	.	0.084	0.09772	B	.;.;.	.;.;.	4.030448	0.59597	24.1	0.99830518933570311	0.91198	0.38585	0.26021	N	AEFBI	0.270065	0.38621	N	-0.449298788843079	0.23763	1.278432	-0.328470884759178	0.27183	1.506609	0.999812008237653	0.43459	0.660377	0.49826	0	0.610034	0.51514	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	3.97	3.97	0.45241	3.520000	0.53221	7.482000	0.59270	0.618000	0.50648	0.488000	0.26863	1.000000	0.68203	0.987000	0.62547	0.0962:0.0:0.9038:0.0	10.014	0.41178	114	0.95383	Domain of unknown function DUF4203;Domain of unknown function DUF4203;Domain of unknown function DUF4203	.	.	.	.	.	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	1041.98	35	chr2	219547901	.	G	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.082e+00;DP=832;ExcessHet=0.0000;FS=5.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=-1.300e-02;SOR=0.326	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1056,0,947	20	0	1	0
chr2	226906872	226906872	G	A	exonic	RHBDD1	.	nonsynonymous SNV	RHBDD1:NM_001349071:exon4:c.G646A:p.A216T	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.001	B	0.002	B	0.936	N	1.000	N	0.095	N	0.97	T	-0.972	T	0.045	T	0.026	1.330	10.36	-6.57	-1.064	-0.204	10.991	0.009	0.00318932410229	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247265683	4.104e-06	4.104e-06	2.723e-06	5.5e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.11696	T	0.452	0.15890	T	0.001	0.07471	B	0.002	0.06944	B	0.935784	0.08388	N	0.974151	1	0.08975	N	-0.06	0.04898	N	0.97	0.42502	T	-0.54	0.20145	N	0.101	0.10626	-0.9723	0.36712	T	0.045	0.19234	T	10	0.042218447	0.02949	T	0.003189	0.06996	T	0.009	0.00846	0.233	0.16155	0.0954503805726	0.09146	0.5509201901625623	0.55018	0.0471200179943	0.05133	0.239198774099	0.02719	T	0.001251	0.11459	T	-0.36685	0.03756	T	-0.764731	0.02945	T	0.0258160528976588	0.01380	T	0.633137	0.29972	T	0.019086203	0.00434	0.038829945	0.03840	0.019086203	0.00433	0.038829945	0.03840	-3.718	0.19584	T	.	.	0.067	0.06433	B	.;.;.	.;.;.	0.933213	0.13084	9.588	0.78416162182754767	0.12291	0.03908	0.09289	N	AEFGBHCI	0.024595	0.01548	N	-1.3859980934668	0.02768	0.12272	-1.37435492484234	0.03527	0.1647202	0.999999986604476	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.89	-6.57	0.01674	-0.050000	0.11859	0.344000	0.17410	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.957000	0.51019	0.2928:0.0:0.603:0.1042	10.991	0.46766	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	1	0	0	0	0.02381	1058.98	36	chr2	226906872	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.086;DP=828;ExcessHet=0.0000;FS=5.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-9.940e-01;SOR=1.416	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1073,0,1145	20	0	1	0
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2555.11	33	chr2	232847515	.	C	CCG,*	2555.11	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=2.00;DP=2129;ExcessHet=0.3300;FS=0.797;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=6.74;ReadPosRankSum=0.403;SOR=0.758	GT:AD:DP:GQ:PL	0/2:61,0,56:117:99:2117,2300,4760,0,2460,2287	18	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,55,56:112:99:.:.:4440,2274,2136,2155,0,2243	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,55,0:112:99:.:.:2304,138,0,2329,174,2455	6	4	10	0
chr2	235740993	235740993	A	T	exonic	AGAP1	.	nonsynonymous SNV	AGAP1:NM_001037131:exon4:c.A341T:p.D114V	.	.	414	1103	5	0	0	5	0.00226142	.	.	1925518	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.996	D	0.000	D	1.000	D	3.88	H	1.68	T	-0.221	T	0.266	T	0.936	3.897	19.81	4.8	1.911	9.168	14.664	0.704	0.0880502821085	.	.	0.0002	0	0.0003	0	0	4.497e-05	0	0.0007	0.0001229	19	154602	rs756920826	8.004e-05	8.072e-05	3.267e-05	0.0001	0.0011	6.801e-05	6.355e-05	0.0009	0.0009	0	0.0001	0	0	0	0.0003	1.259e-05	1.656e-05	0.0011	1.313e-05	1.312e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.988	0.65571	D	0.923	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.845	0.95734	H	1.68	0.27184	T	-7.82	0.97757	D	0.95	0.98563	-0.2208	0.77130	T	0.266	0.63749	T	10	0.86080366	0.85299	D	0.08805	0.75057	D	0.704	0.89376	0.804	0.92230	0.841479636562	0.83996	0.8937390900700843	0.89344	1.50946548698	0.87204	0.876686692238	0.93510	D	0.517203	0.87050	D	0.0360054	0.56519	T	0.189788	0.82557	D	0.965130567550659	0.67173	D	0.992801	0.97620	D	0.91145134	0.92430	0.8827041	0.93752	0.91145134	0.92431	0.8827041	0.93752	-16.312	0.98191	D	.	.	0.974	0.94165	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.112926	0.85491	28.6	0.99373119120390863	0.61541	0.96487	0.69383	D	ALL	0.921809	0.89585	D	0.815564975897887	0.87070	9.092701	0.669724946535695	0.80086	7.22155	0.99999999999993	0.74766	0.77792	0.99625	0	0.573888	0.26702	0	0.854111	0.99894	0	0.759125	0.99760	0	.	.	4.8	4.8	0.61157	9.207000	0.94192	10.895000	0.84111	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	1.0:0.0:0.0:0.0	14.664	0.68501	988	0.01987	.;.;.;.;.;.;.;.	.	.	.	.	.	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	2964.98	33	chr2	235740993	.	A	T	2964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=885;ExcessHet=0.0000;FS=2.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.61;ReadPosRankSum=-1.351e+00;SOR=0.579	GT:AD:DP:GQ:PL	0/1:70,120:190:99:2979,0,1602	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	0|1:50,57,0:107:99:0|1:240757423_ATCC_A:2119,0,1807,2270,1980,4250:240757423	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	0/2:25,4,31:63:99:634,537,1241,0,416,384	0	0	1	0
chr3	12813374	12813374	A	T	exonic	CAND2	.	nonsynonymous SNV	CAND2:NM_012298:exon5:c.A713T:p.E238V	.	.	424	1060	34	4	0	42	0.0194265	.	.	2819925	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.384	B	0.311	B	0.000	D	1.000	D	2.015	M	-0.27	T	-0.553	T	0.232	T	0.343	3.098	16.35	4.67	1.739	6.415	12.078	0.231	0.212997662004	0.0058	0.00259585	0.0050	0.0010	0.0043	0	0.0034	0.0070	0.0047	0.0027	0.0050517	781	154602	rs138783925	0.0061	0.0061	0.0061	0.0061	0.0112	0.0060	0.0059	0.0090	0.0082	0.0012	0.0059	0.0145	5.038e-05	0.0032	0.0112	0.0066	0.0073	0.0023	0.0053	0.0053	0.0057	0.0048	0.0077	0.0050	0.0048	0.0071	0.0069	0.0014	0	0.0077	0.0147	0	0.0020	0.0068	0.0076	0.0080	0.0033	0.002	0.78490	D	0.005	0.72224	D	0.384	0.34453	B	0.311	0.41430	B	0.000283	0.46274	D	0.082402	1	0.81001	D	2.565	0.75005	M	-0.27	0.67367	T	-4.03	0.74900	D	0.449	0.54845	-0.5528	0.66680	T	0.232	0.59757	T	10	0.0043477714	0.00088	T	0.212998	0.87384	D	0.231	0.53208	.	.	0.854174799299	0.85277	0.42959531088564745	0.42876	0.521512358638	0.49918	0.494949102402	0.38125	T	0.124184	0.44905	T	-0.305828	0.08121	T	-0.208072	0.53879	T	0.046848688626475	0.04939	T	0.70293	0.31283	T	0.41039586	0.61445	0.3350563	0.59324	0.41039586	0.61446	0.3350563	0.59323	-8.817	0.66511	D	.	.	0.164	0.41541	B	.;.	.;.	4.017003	0.59304	24.1	0.97823422286081851	0.36213	0.99131	0.91682	D	AEFDBI	0.659531	0.63041	D	0.130841528955499	0.47906	3.009839	0.223713165953116	0.51167	3.301554	0.999999894199915	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.67	4.67	0.58089	5.313000	0.65584	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.078	0.52956	835	0.38313	.;.	RPL32	Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2241.11	40	chr3	12813374	.	A	T	2241.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.340e-01;DP=862;ExcessHet=0.1072;FS=1.873;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=0.531;SOR=0.563	GT:AD:DP:GQ:PL	0/1:34,53:87:99:1323,0,868	19	0	2	0
chr3	14129481	14129481	C	T	exonic	TMEM43	.	nonsynonymous SNV	TMEM43:NM_024334:exon2:c.C82T:p.R28W,	Arrhythmogenic right ventricular dysplasia 5, Autosomal dominant;Emery-Dreifuss muscular dystrophy 7, AD, Autosomal dominant	.	0	1505	16	1	0	18	0.00594452	.	.	55318	Arrhythmogenic_right_ventricular_dysplasia_5|not_specified|Auditory_neuropathy,_autosomal_dominant_3|Emery-Dreifuss_muscular_dystrophy_7,_autosomal_dominant|Cardiovascular_phenotype|Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided	MONDO:MONDO:0011459,MedGen:C1858379,OMIM:604400|MedGen:CN169374|MONDO:MONDO:0859235,MedGen:C5676964,OMIM:619832|MONDO:MONDO:0013677,MedGen:C3553060,OMIM:614302,Orphanet:261|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.645	M	0.82	T	-0.423	T	0.204	T	0.551	4.331	22.7	5.04	2.341	1.760	17.177	0.395	.	0.0067	0.00838658	0.0029	0.0185	0.0014	0.0001	0.0002	0.0011	0.0077	0.0035	0.0027813	430	154602	rs35028636	0.0013	0.0013	0.0012	0.0014	0.0153	0.0013	0.0012	0.0142	0.0138	0.0153	0.0017	0.0114	0.0004	0.0001	0.0081	0.0004	0.0030	0.0036	0.0052	0.0052	0.0054	0.0050	0.0159	0.0049	0.0048	0.0149	0.0145	0.0159	0	0.0020	0.0115	0	0	0.0204	0.0005	0.0038	0.0029	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000020	0.62929	D	0.066364	0.999962	0.52935	D	2.97	0.85306	M	0.82	0.48142	T	-4.17	0.75456	D	0.867	0.86404	-0.4228	0.71300	T	0.204	0.56142	T	10	0.011812419	0.00257	T	.	.	.	0.395	0.71004	.	.	0.585624173979	0.58236	0.8509143264560879	0.85053	0.410448358861	0.41831	0.59380787611	0.52031	T	0.273881	0.64635	T	-0.338533	0.05490	T	-0.244776	0.50330	T	0.0585583195871895	0.06940	T	0.959504	0.84742	D	0.49552068	0.66831	0.41299242	0.65485	0.5049861	0.67387	0.48785636	0.70363	-11.969	0.84700	D	0.8236454928906443	0.89609	0.695	0.72749	P	.	.	5.039401	0.83867	28.2	0.99929177576521133	0.99279	0.89766	0.50444	D	AEFDBI	0.550294	0.56283	D	0.678361365327708	0.78214	6.826775	0.618827999199292	0.76309	6.467047	0.999997166434567	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	0.907000	0.28154	3.328000	0.37603	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	17.177	0.86724	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1379.98	36	chr3	14129481	.	C	T	1379.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=807;ExcessHet=0.0000;FS=0.708;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.345;SOR=0.569	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1394,0,1266	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,65:230:99:0|1:15003967_C_G:504,0,4443:15003967	8	0	12	1
chr3	20174951	20174951	T	C	exonic	SGO1	.	nonsynonymous SNV	SGO1:NM_001012409:exon6:c.A580G:p.S194G	Chronic atrial and intestinal dysrhythmia, Autosomal recessive	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.002	B	0.583	N	1.000	N	1.175	L	1.45	T	-0.982	T	0.042	T	0.133	0.082	4.443	-0.22	0.007	0.230	4.401	0.010	0.00275094187874	0.0002	.	8.264e-05	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs141448850	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.635e-05	0.0001	0.0001	2.987e-05	2.236e-05	0	0	3.744e-05	0.0005	0.0001	0.0002	0	6.569e-05	6.567e-05	6.422e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0	0.73	0.03811	T	0.239	0.25135	T	0.001	0.07471	B	0.002	0.06944	B	0.583346	0.11122	N	0.848527	1	0.08975	N	.	.	.	1.42	0.33189	T	-0.41	0.14390	N	0.079	0.05414	-0.9816	0.34632	T	0.042	0.17994	T	10	0.044078887	0.03326	T	0.002751	0.05694	T	0.010	0.01040	.	.	0.0954503805726	0.09146	0.05265415619597537	0.05207	0.0202712198182	0.01990	0.24178186059	0.02953	T	0.015351	0.12895	T	-0.472207	0.00823	T	-0.631356	0.10312	T	0.0133305931794151	0.00240	T	0.40416	0.10358	T	0.019250803	0.00453	0.020472312	0.00138	0.019250803	0.00453	0.020472312	0.00137	-5.068	0.38460	T	0.11986537840542535	0.11213	0.081	0.08948	B	.;.;.	.;.;.	0.848318	0.12204	8.749	0.72956238818526919	0.10156	0.06385	0.12387	N	AEFGBI	.	.	.	-0.947984500192329	0.09738	0.462201	-0.919458749730914	0.11636	0.5939728	0.163218720681022	0.17625	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	6.03	-0.22	0.12483	0.244000	0.17899	1.755000	0.28506	0.665000	0.62972	0.000000	0.06391	0.022000	0.20871	0.061000	0.16044	0.1039:0.1797:0.5301:0.1862	4.401	0.10816	689	0.59000	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2127.98	33	chr3	20174951	.	T	C	2127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.087e+00;DP=874;ExcessHet=0.0000;FS=1.952;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-9.930e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/1:77,93:170:99:2142,0,1897	20	0	1	0
chr3	30728391	30728391	T	A	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon15:c.A1417T:p.M473L,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.995	D	0.99	D	0.000	D	1.000	D	1.945	M	1.9	T	-1.008	T	0.144	T	0.795	5.408	34	6.02	2.311	7.698	16.545	0.339	0.0260842779726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.05	0.48080	T	0.995	0.67487	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	2.755	0.80505	M	1.9	0.23486	T	-2.78	0.58896	D	0.502	0.53445	-1.0077	0.27634	T	0.144	0.46587	T	10	0.5295273	0.63104	D	0.026084	0.49023	D	0.339	0.66106	0.712	0.84781	0.117506650769	0.11410	0.6983275464233277	0.69773	0.0593796571921	0.06593	0.697414040565	0.66770	T	0.15386	0.49490	T	0.108803	0.65226	D	-0.081488	0.64795	T	0.986639678478241	0.77303	D	0.908809	0.67676	D	0.76610404	0.81815	0.8243602	0.89819	0.76610404	0.81816	0.8243602	0.89820	-7.321	0.56345	T	.	.	0.415	0.60378	A	.	.	4.628858	0.73573	26.0	0.98278466786266672	0.39833	0.96990	0.72056	D	AEFHCI	0.909576	0.86638	D	0.700552038740836	0.79667	7.126614	0.721477596391144	0.84008	8.174299	0.999999999997744	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.645665	0.59343	0	.	.	6.02	6.02	0.97559	7.674000	0.83146	7.949000	0.75792	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.545	0.84275	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	719.98	34	chr3	30728391	.	T	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=783;ExcessHet=0.0000;FS=0.950;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-2.038e+00;SOR=0.939	GT:AD:DP:GQ:PL	0/1:41,30:71:99:734,0,1030	20	0	1	0
chr3	30778259	30778259	C	T	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon14:c.G1312A:p.A438T,	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.004	B	0.001	N	1.000	D	-0.745	N	1.18	T	-1.037	T	0.020	T	0.218	0.380	6.061	3.86	1.213	3.300	9.603	0.050	0.00659389926062	0.0049	0.00199681	0.0037	0.0008	0.0017	0	0.0033	0.0054	0.0066	0.0018	0.0001921	5	26028	rs143542109	0.0052	0.0053	0.0051	0.0052	0.0056	0.0051	0.0050	0.0055	0.0054	0.0005	0.0023	0.0185	0	0.0034	0.0024	0.0056	0.0049	0.0026	0.0042	0.0042	0.0047	0.0037	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0028	0.0202	0	0.0033	0.0034	0.0064	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000786	0.41772	N	0.241129	0.935291	0.26948	N	-0.15	0.04376	N	1.18	0.37746	T	1.62	0.00637	N	0.463	0.49965	-1.0374	0.18109	T	0.020	0.08593	T	10	0.010186911	0.00228	T	0.006594	0.17386	T	0.050	0.13987	.	.	0.0297737177859	0.01360	0.47175260623024184	0.47094	0.0095085458128	0.00866	0.435543239117	0.29967	T	0.008	0.07715	T	-0.540843	0.00331	T	-0.545935	0.17718	T	0.00757071028522608	0.00088	T	0.835117	0.50455	T	0.033086956	0.03459	0.07781945	0.17372	0.033086956	0.03458	0.07781945	0.17371	-2.701	0.07312	T	.	.	0.111	0.21541	B	.	.	2.551693	0.33031	19.22	0.38348791463395926	0.02581	0.77915	0.38368	D	AEFBI	0.174041	0.30115	N	-0.518554976326813	0.21480	1.140251	-0.241176085524428	0.30077	1.690382	0.98632270452313	0.31043	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.02	3.86	0.43689	3.394000	0.52294	3.323000	0.37562	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.7967:0.0:0.2033	9.603	0.38782	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	696.98	34	chr3	30778259	.	C	T	696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.280e-01;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=-4.300e-02;SOR=0.745	GT:AD:DP:GQ:PL	0/1:38,30:68:99:711,0,974	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	1/1:0,59,0,0,0,0,0:59:99:2651,176,0,2652,178,2654,2652,178,2654,2654,2652,178,2654,2654,2654,2652,178,2654,2654,2654,2654,2652,178,2654,2654,2654,2654,2654	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	1/1:0,59,0,0,0,0,0:59:99:2651,176,0,2652,178,2654,2652,178,2654,2654,2652,178,2654,2654,2654,2652,178,2654,2654,2654,2654,2652,178,2654,2654,2654,2654,2654	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	1/1:0,59,0,0,0,0,0:59:99:2651,176,0,2652,178,2654,2652,178,2654,2654,2652,178,2654,2654,2654,2652,178,2654,2654,2654,2654,2652,178,2654,2654,2654,2654,2654	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	1/1:0,59,0,0,0,0,0:59:99:2651,176,0,2652,178,2654,2652,178,2654,2654,2652,178,2654,2654,2654,2652,178,2654,2654,2654,2654,2652,178,2654,2654,2654,2654,2654	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	1/1:0,59,0,0,0,0,0:59:99:2651,176,0,2652,178,2654,2652,178,2654,2654,2652,178,2654,2654,2654,2652,178,2654,2654,2654,2654,2652,178,2654,2654,2654,2654,2654	1	2	2	0
chr3	40533016	40533016	C	T	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon5:c.C1246T:p.R416C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.939	P	0.326	B	0.825	N	1.000	N	0.55	N	3.24	T	-0.993	T	0.015	T	0.176	2.064	12.86	2.01	0.571	-1.762	3.452	0.010	0.0164194363904	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	1.94e-05	3	154602	rs747015346	1.286e-05	1.231e-05	8.46e-06	1.739e-05	0.0002	8.04e-06	6.63e-06	0.0001	8.117e-05	0	0.0002	7.942e-05	0	0	0	3.707e-06	1.724e-05	3.786e-05	6.57e-06	6.566e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.007	0.78490	D	0.006	0.70582	D	0.939	0.52645	P	0.326	0.41929	B	0.824679	0.06904	N	1.121610	1	0.08975	N	0.895	0.22405	L	3.24	0.08810	T	-2.29	0.56144	N	0.076	0.06322	-0.9928	0.31880	T	0.015	0.05897	T	10	0.054667354	0.05855	T	0.016419	0.37668	T	0.010	0.01040	0.416	0.45544	0.263612267334	0.25957	0.2440493363284048	0.24318	0.245599816144	0.27083	0.237095862627	0.02535	T	0.08375	0.37125	T	-0.454767	0.01058	T	-0.606305	0.12287	T	0.0657258186810671	0.08037	T	0.90401	0.66351	D	0.08163529	0.18768	0.05802751	0.10653	0.08163529	0.18768	0.05802751	0.10653	-3.84	0.21403	T	.	.	0.134	0.33800	B	.;.;.	.;.;.	2.119683	0.26979	17.31	0.98134762212252324	0.38547	0.12288	0.17177	N	AEFBCI	0.049968	0.08687	N	-0.718814045540149	0.15493	0.7812864	-0.795771812427377	0.14599	0.7636061	0.00524035518973816	0.10872	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.83	2.01	0.25568	-0.504000	0.06456	0.031000	0.13732	0.577000	0.29297	0.000000	0.06391	0.000000	0.08366	0.806000	0.37994	0.202:0.5869:0.0:0.2111	3.452	0.07067	749	0.51929	.;.;.	.	.	.	.	.	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	3432.98	35	chr3	40533016	.	C	T	3432.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.135e+00;DP=1007;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=1.73;SOR=0.676	GT:AD:DP:GQ:PL	0/1:138,154:292:99:3447,0,3191	20	0	1	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/2:1,35,38,0,0:74:99:2957,1551,1604,1378,0,1317,2975,1656,1434,3077,2975,1656,1434,3077,3077	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/2:1,35,38,0,0:74:99:2957,1551,1604,1378,0,1317,2975,1656,1434,3077,2975,1656,1434,3077,3077	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	1/2:1,35,38,0,0:74:99:2957,1551,1604,1378,0,1317,2975,1656,1434,3077,2975,1656,1434,3077,3077	1	3	1	0
chr3	44243954	44243954	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A1448G:p.Q483R,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.912	N	1.000	N	0	N	3.14	T	-0.926	T	0.008	T	0.083	-1.884	0.008	-3.29	-0.504	-0.166	13.357	0.035	.	0.0028	0.00579073	0.0037	0.0089	0.0044	0	0	0.0022	0.0039	0.0051	0.0009961	154	154602	rs17076541	0.0013	0.0013	0.0012	0.0014	0.0298	0.0013	0.0012	0.0261	0.0247	0.0105	0.0023	0.0023	0	0	0.0298	0.0007	0.0029	0.0032	0.0035	0.0035	0.0033	0.0036	0.0088	0.0032	0.0031	0.0081	0.0078	0.0088	0	0.0025	0.0017	0	0	0.0170	0.0012	0.0043	0.0043	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.911959	0.07421	N	1.038110	1	0.08975	N	-0.205	0.04094	N	3.14	0.07920	T	1.27	0.00985	N	0.047	0.01911	-0.9259	0.44730	T	0.008	0.02638	T	10	0.0025490224	0.00039	T	.	.	.	0.035	0.08770	.	.	0.0482279557977	0.04254	0.21658741482236482	0.21574	.	.	0.221319049597	0.01388	T	8.32E-4	0.00412	T	-0.730454	0.00024	T	-0.814062	0.01576	T	0.0055632490905544	0.00061	T	0.524548	0.17205	T	0.039508287	0.05469	0.0520892	0.08514	0.039508287	0.05469	0.0520892	0.08514	-3.388	0.14896	T	.	.	0.067	0.02399	B	.	.	-0.212529	0.03027	0.463	0.32374395834308728	0.01872	0.01430	0.04814	N	AEFDBI	0.030791	0.03167	N	-1.35093760866715	0.03115	0.1386367	-1.27041351859735	0.04836	0.2290646	0.00976757613190134	0.11910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.55	-3.29	0.04706	-0.026000	0.12340	-0.162000	0.11313	-0.208000	0.08445	0.426000	0.26377	0.000000	0.08366	0.843000	0.39806	0.4055:0.0:0.5945:0.0	13.357	0.60075	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4169.11	41	chr3	44243954	.	A	G	4169.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.320e+00;DP=1262;ExcessHet=0.1072;FS=2.671;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-4.560e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:92,96:188:99:2251,0,2433	19	0	2	0
chr3	44244892	44244892	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A2386G:p.K796E,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.763	P	0.242	B	.	.	1.000	N	0.695	N	2.68	T	-1.037	T	0.009	T	0.2	0.689	7.683	4.6	2.187	1.467	8.843	0.078	.	0.0083	0.0109824	0.0057	0.0281	0.0052	0	0	0.0024	0.0042	0.0051	0.0015524	240	154602	rs17076545	0.0018	0.0018	0.0018	0.0019	0.0302	0.0018	0.0018	0.0265	0.0251	0.0266	0.0034	0.0023	0	0	0.0302	0.0008	0.0042	0.0032	0.0085	0.0085	0.0087	0.0082	0.0259	0.0081	0.0079	0.0246	0.0241	0.0259	0	0.0043	0.0017	0	0	0.0204	0.0013	0.0099	0.0044	0.008	0.58626	D	0.0	0.92824	D	0.763	0.43659	P	0.242	0.38699	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	2.68	0.12371	T	-1.55	0.37566	N	0.255	0.28849	-1.0370	0.18233	T	0.009	0.03011	T	9	0.003294468	0.00057	T	.	.	.	0.078	0.22779	.	.	0.0716867268079	0.06686	0.2982062153470853	0.29733	.	.	0.336203336716	0.15869	T	0.011622	0.10346	T	-0.586762	0.00175	T	-0.593989	0.13322	T	0.0180266410121894	0.00526	T	0.639636	0.25265	T	0.20178348	0.42200	0.18954335	0.42307	0.20178348	0.42200	0.18954335	0.42306	-3.889	0.22137	T	.	.	0.083	0.09385	B	.	.	1.950725	0.24781	16.52	0.99123435050489805	0.53063	0.11872	0.16915	N	AEDBI	0.054050	0.09793	N	-0.191757305705605	0.33477	1.899678	-0.177528634749536	0.32366	1.840599	0.954957825442561	0.28161	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.74	4.6	0.56512	1.477000	0.35039	5.575000	0.48953	0.691000	0.84096	0.006000	0.17386	1.000000	0.68203	0.814000	0.38357	0.8578:0.0:0.1422:0.0	8.843	0.34314	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4574.11	41	chr3	44244892	.	A	G	4574.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.41;DP=1188;ExcessHet=0.1072;FS=6.893;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.391;SOR=1.021	GT:AD:DP:GQ:PL	0/1:94,84:178:99:2210,0,2377	19	0	2	0
chr3	44421810	44421810	A	T	exonic	C3orf86	.	startloss	C3orf86:NM_001351480:exon2:c.T2A:p.M1?	.	.	1009	509	4	0	0	4	0.00391389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00898562	.	.	.	.	.	.	.	.	0.0036115	94	26028	rs112666989	0	8.111e-05	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0052	0.0052	0.0050	0.0054	0.0144	0.0049	0.0048	0.0134	0.0130	0.0144	0	0.0032	0.0017	0	0	0.0204	0.0014	0.0071	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3466.11	33	chr3	44421810	.	A	T	3466.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.57;DP=938;ExcessHet=0.1072;FS=3.315;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-2.820e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1540,0,1488	19	0	2	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	1/1:0,63,0:63:99:2786,190,0,2786,190,2786	2	7	11	0
chr3	47122647	47122647	T	G	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.A1857C:p.L619F	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.961	D	0.708	P	0.069	N	0.610	D	0.695	N	1.11	T	0.324	D	0.619	D	0.388	2.648	14.82	3.03	0.486	0.578	9.848	0.220	0.0523457504914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.08	0.41913	T	0.961	0.55431	D	0.621	0.51426	P	0.069343	0.21611	N	0.331275	0.61015	0.32614	D	0.805	0.20218	L	-2.71	0.90566	D	-0.99	0.51968	N	0.27	0.30574	0.324	0.87935	D	0.619	0.86568	D	10	0.18813914	0.34356	T	0.052346	0.65033	D	0.220	0.51569	0.252	0.19067	0.386522206555	0.38262	0.33474810973961094	0.33387	0.582462587002	0.54002	0.52076625824	0.41734	T	0.240852	0.60925	T	0.0905999	0.63257	D	-0.107636	0.62799	T	0.658206933786314	0.38817	D	0.79872	0.44372	T	0.11742104	0.27681	0.14938414	0.35274	0.11742104	0.27681	0.14938414	0.35273	-4.424	0.29880	T	0.25959012701761075	0.35063	0.089	0.36073	B	.;.	.;.	2.484343	0.32044	18.92	0.99746177316725326	0.83927	0.84539	0.43621	D	AEBI	0.099180	0.19969	N	0.124211317944405	0.47594	2.982947	0.144859445792893	0.46869	2.926038	0.995182838809271	0.33994	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.44	3.03	0.34070	0.574000	0.23416	1.826000	0.29078	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.195:0.0:0.805	9.848	0.40210	13	0.98894	.;.	.	.	.	.	.	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	2808.98	43	chr3	47122647	.	T	G	2808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.760e-01;DP=983;ExcessHet=0.0000;FS=4.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=1.25;SOR=0.533	GT:AD:DP:GQ:PL	0/1:67,111:178:99:2823,0,1601	20	0	1	0
chr3	47123489	47123489	G	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.C1015G:p.L339V	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.146	B	0.057	B	.	.	0.995	N	0.345	N	2.44	T	-1.054	T	0.022	T	0.215	1.186	9.822	4.06	2.758	2.307	3.084	0.074	0.00266022905441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1354211496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.371	0.16425	T	0.146	0.27821	B	0.039	0.23607	B	.	.	.	.	0.994787	0.23443	N	1.39	0.34934	L	2.44	0.15145	T	-0.22	0.27463	N	0.188	0.20528	-1.0537	0.13386	T	0.022	0.09330	T	9	0.08811697	0.15142	T	0.00266	0.05434	T	0.074	0.21613	0.224	0.14813	0.220282294035	0.21616	0.10593293897313748	0.10523	0.280442592091	0.30528	0.39762160182	0.24737	T	0.090016	0.38496	T	-0.227334	0.17003	T	-0.564326	0.15973	T	0.164467157244467	0.18196	T	0.839116	0.51273	T	0.040376473	0.05751	0.06588037	0.13417	0.040376473	0.05751	0.06588037	0.13417	-4.534	0.31330	T	0.2664687210439594	0.35913	0.086	0.16886	B	.;.	.;.	2.830090	0.37305	20.5	0.96799024938121125	0.31142	0.90604	0.51918	D	AEFBI	0.271212	0.38711	N	-0.0947717851871296	0.37620	2.19142	0.0916981602559691	0.44129	2.700757	0.998637914057389	0.37351	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.0	4.06	0.46572	1.969000	0.40134	5.030000	0.46819	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1976:0.0:0.5613:0.2411	3.084	0.05893	13	0.98894	.;.	.	.	.	.	.	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	1581.98	43	chr3	47123489	.	G	C	1581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.603;SOR=0.701	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1596,0,1198	20	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.391	17.44	4.72	2.632	2.205	11.513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	152.25	73	chr3	48174283	.	C	G	152.25	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-3.184e+00;DP=1667;ExcessHet=0.1072;FS=139.614;InbreedingCoeff=-0.1264;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.704;SOR=10.723	GT:AD:DP:GQ:PL	0/1:69,30:99:40:40,0,983	14	0	2	5
chr3	48639758	48639758	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9827T:p.P3276L,	.	.	421	1052	47	2	0	51	0.0236659	.	.	698156	CELSR3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.058	B	0.028	B	.	.	0.999	D	0.805	L	-0.48	T	-0.888	T	0.105	T	0.172	3.094	16.33	4.49	1.233	5.017	6.267	0.128	.	0.0062	0.00359425	0.0075	0.0012	0.0074	0	0.0029	0.0104	0.0168	0.0051	0.0072767	1125	154602	rs61729242	0.0079	0.0079	0.0078	0.0079	0.0390	0.0078	0.0077	0.0348	0.0332	0.0015	0.0066	0.0499	5.038e-05	0.0041	0.0390	0.0074	0.0104	0.0060	0.0062	0.0062	0.0064	0.0059	0.0080	0.0058	0.0057	0.0074	0.0072	0.0011	0	0.0060	0.0478	0	0.0036	0.0238	0.0080	0.0085	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.999333	0.46701	D	1.65	0.42232	L	-0.48	0.70249	T	-2.7	0.57599	D	0.464	0.50056	-0.8880	0.49105	T	0.105	0.38489	T	9	0.0051828325	0.00113	T	.	.	.	0.128	0.35103	.	.	0.467483910872	0.46373	0.30267156966905423	0.30180	0.295121419121	0.31921	0.675325274467	0.63598	T	0.343702	0.71231	T	-0.371478	0.03519	T	-0.295991	0.45146	T	0.0751808807291779	0.09360	T	0.779122	0.41282	T	0.16058633	0.36010	0.17643678	0.40178	0.16058633	0.36010	0.17643678	0.40177	-4.595	0.32109	T	.	.	0.124	0.25946	B	.	.	3.561600	0.50119	22.9	0.99799961824778272	0.88461	0.94399	0.61041	D	AEFBI	0.534837	0.55372	D	-0.125447496584212	0.36285	2.095405	0.0344376320891939	0.41326	2.480925	0.999707340005375	0.41986	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.36	4.49	0.54177	5.120000	0.64523	6.362000	0.55510	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1537:0.0:0.6964:0.1498	6.267	0.20143	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2738.11	35	chr3	48639758	.	G	A	2738.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.161;DP=962;ExcessHet=0.1072;FS=0.946;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.90;SOR=0.764	GT:AD:DP:GQ:PL	0/1:78,60:138:99:1282,0,2040	19	0	2	0
chr3	48646874	48646874	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon21:c.C7184T:p.P2395L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.224	B	0.096	B	.	.	1.000	N	1.1	L	-0.44	T	-0.954	T	0.183	T	0.181	0.984	9.017	3.42	1.239	1.428	8.915	0.037	0.0631592220302	.	.	2.808e-05	0	0	0	0	5.137e-05	0	0	1.94e-05	3	154602	rs750836613	4.317e-05	4.515e-05	3.877e-05	4.763e-05	0.0003	3.437e-05	3.119e-05	0.0001	0.0001	0.0003	5.166e-05	0.0001	0	0	0	3.718e-05	0.0001	1.205e-05	3.948e-05	3.941e-05	5.144e-05	2.695e-05	4.831e-05	1.717e-05	1.131e-05	1.171e-05	6.25e-06	4.831e-05	0	0	0	0	0	0	4.411e-05	0.0005	0	0.348	0.12386	T	0.357	0.17115	T	0.018	0.17786	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	-0.45	0.69896	T	-0.99	0.26200	N	0.25	0.28264	-0.9543	0.40221	T	0.183	0.53057	T	9	0.09673414	0.17372	T	0.063159	0.68882	D	0.037	0.09474	0.248	0.18447	0.502596446142	0.49897	0.3632829049986184	0.36242	0.336840717658	0.35678	0.297836005688	0.10080	T	0.084278	0.37244	T	-0.227507	0.16981	T	-0.417246	0.31393	T	0.0271229864240092	0.01562	T	0.69513	0.30474	T	0.032155085	0.03187	0.03918463	0.03952	0.032155085	0.03187	0.03918463	0.03952	-4.491	0.30770	T	.	.	0.076	0.05935	B	.	.	1.742085	0.22164	15.51	0.5479992047401302	0.05210	0.28264	0.23506	N	AEFBI	0.123230	0.23873	N	-0.84283929687399	0.12227	0.5946852	-0.832401771567534	0.13711	0.7127724	0.392842749735984	0.20062	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.26	3.42	0.38259	1.998000	0.40415	4.732000	0.44559	-0.108000	0.15293	0.043000	0.21118	1.000000	0.68203	0.150000	0.20306	0.0:0.4578:0.4127:0.1295	8.915	0.34736	4	0.99387	GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1896.98	35	chr3	48646874	.	G	A	1896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.175e+00;DP=888;ExcessHet=0.0000;FS=2.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=-2.303e+00;SOR=0.565	GT:AD:DP:GQ:PL	0/1:92,83:175:99:1911,0,2286	20	0	1	0
chr3	49163890	49163890	T	C	exonic	CCDC71	.	nonsynonymous SNV	CCDC71:NM_022903:exon2:c.A319G:p.M107V,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.0	B	0.371	N	1.000	N	0	N	1.63	T	-1.032	T	0.030	T	0.055	0.166	4.892	-5.63	-0.748	-1.036	4.383	0.015	0.00325377277835	0.0003	0.000399361	0.0006	9.636e-05	0.0023	0	0	0.0007	0.0033	6.056e-05	0.0005498	85	154602	rs143414989	0.0003	0.0003	0.0003	0.0003	0.0055	0.0003	0.0003	0.0040	0.0035	0.0003	0.0016	0.0052	0	0	0.0055	0.0001	0.0009	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0002	0.0003	0.0002	2.406e-05	0	0.0005	0.0046	0	0	0.0102	0.0002	0.0028	0.0002	1.0	0.00964	T	0.872	0.03296	T	0.0	0.02946	B	0.0	0.01387	B	0.370556	0.04360	N	1.385010	1	0.08975	N	0.35	0.11930	N	1.63	0.28002	T	-0.11	0.08653	N	0.094	0.07398	-1.0325	0.19650	T	0.030	0.12848	T	10	0.0022620559	0.00033	T	0.003254	0.07177	T	0.015	0.02232	.	.	0.124217242631	0.12060	0.2156238693120016	0.21478	0.152547326704	0.17211	0.494650423527	0.38084	T	0.003564	0.02970	T	-0.66869	0.00056	T	-0.757931	0.03187	T	0.00784760214633818	0.00092	T	0.50435	0.15896	T	0.01888747	0.00412	0.037019808	0.03266	0.01888747	0.00412	0.037019808	0.03266	-2.114	0.03644	T	.	.	0.056	0.00496	B	.	.	-0.248041	0.02853	0.402	0.58741942598924879	0.06062	0.05463	0.11343	N	AEFDGBCI	0.057978	0.10842	N	-1.22022006493123	0.04707	0.2130268	-1.22720063189754	0.05476	0.2610589	0.999999757664015	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	-5.63	0.02276	-0.822000	0.04555	-0.948000	0.06824	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1:0.3931:0.1022:0.4047	4.383	0.10736	0	0.99858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1990.98	38	chr3	49163890	.	T	C	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-02;DP=976;ExcessHet=0.0000;FS=1.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-3.060e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/1:91,82:173:99:2005,0,2290	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	1/1:0,66,0:66:99:2972,200,0,2972,200,2972	0	4	6	0
chr3	49812492	49812492	G	A	exonic	UBA7	.	nonsynonymous SNV	UBA7:NM_003335:exon6:c.C610T:p.R204C,	.	.	.	.	.	.	.	.	.	.	.	2397989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.0	B	0.0	B	0.045	N	1.000	N	-0.41	N	1.51	T	-1.009	T	0.030	T	0.093	2.122	13.05	-10.9	-1.791	-1.011	9.124	0.050	0.00510123387456	.	.	3.295e-05	0	0	0	0.0002	4.496e-05	0	0	3.23e-05	5	154602	rs772727259	1.915e-05	1.915e-05	1.497e-05	2.338e-05	2.319e-05	1.328e-05	1.144e-05	1.46e-05	1.227e-05	0	0	0	0	0	0	2.158e-05	3.311e-05	2.319e-05	3.942e-05	3.94e-05	3.854e-05	4.035e-05	0.0001	1.715e-05	1.129e-05	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	2.939e-05	0.0005	0	0.077	0.34095	T	0.066	0.44501	T	0.0	0.02946	B	0.0	0.01387	B	0.044960	0.01940	N	1.802330	0.999777	0.20412	N	-0.21	0.04010	N	1.51	0.30937	T	-3.02	0.62630	D	0.087	0.06454	-1.0086	0.27354	T	0.030	0.12804	T	10	0.047828138	0.04153	T	0.005101	0.12939	T	0.050	0.13987	0.484	0.56621	0.0551355673512	0.04727	0.341284228284862	0.34041	0.286801719503	0.31071	0.182575032115	0.00120	T	0.257532	0.62858	T	-0.395052	0.02494	T	-0.741596	0.03823	T	0.17390376329422	0.18842	T	0.357564	0.08149	T	0.07812895	0.17775	0.0960494	0.22805	0.07812895	0.17774	0.0960494	0.22804	-4.536	0.31356	T	.	.	0.074	0.05231	B	.	.	0.297348	0.06730	3.243	0.82043477711143686	0.13990	0.01888	0.05800	N	AEFGBI	0.048859	0.08382	N	-1.73977463490396	0.00710	0.03065071	-1.82302744383319	0.00688	0.03064093	0.999999999980301	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.55458	0.18720	0	0.635551	0.53088	0	.	.	5.46	-10.9	0.00151	-1.757000	0.01910	-0.251000	0.10506	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.1124:0.0808:0.6472:0.1597	9.124	0.35966	1	0.99630	THIF-type NAD/FAD binding fold|Ubiquitin-activating enzyme E1, FCCH 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	1263.98	36	chr3	49812492	.	G	A	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.48;ReadPosRankSum=-1.817e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:93,56:149:99:1278,0,2312	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/1:15,13,0:28:99:500,0,553,546,592,1138	5	0	8	1
chr3	52392627	52392627	G	A	exonic	DNAH1	.	nonsynonymous SNV	DNAH1:NM_015512:exon64:c.G10216A:p.V3406I,	.	.	359	1145	16	2	0	20	0.00865801	.	.	452667	Spermatogenic_failure_18|Ciliary_dyskinesia,_primary,_37|not_provided	MONDO:MONDO:0054615,MedGen:C4539783,OMIM:617576|MONDO:MONDO:0033204,MedGen:C4539798,OMIM:617577|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.996	D	0.987	D	0.000	D	0.997	D	1.88	L	0.6	T	-0.392	T	0.311	T	0.345	3.529	18.01	4.5	2.345	3.972	17.374	0.191	0.0207977319322	0.0022	0.000798722	0.0031	0.0002	0.0025	0	0.0007	0.0034	0.0026	0.0060	0.0025808	399	154602	rs201752275	0.0028	0.0028	0.0027	0.0029	0.0082	0.0027	0.0027	0.0063	0.0056	0.0006	0.0030	0.0024	5.04e-05	0.0003	0.0082	0.0028	0.0037	0.0055	0.0019	0.0019	0.0016	0.0021	0.0046	0.0017	0.0016	0.0037	0.0034	0.0003	0	0.0046	0.0046	0	0	0.0102	0.0023	0.0038	0.0037	0.028	0.46129	D	0.051	0.47828	T	.	.	.	.	.	.	0.000045	0.53742	D	0.000000	0.997306	0.43782	D	.	.	.	0.6	0.53731	T	-0.59	0.17624	N	0.462	0.49874	-0.3923	0.72269	T	0.311	0.68121	T	10	0.011325091	0.00248	T	0.020798	0.43464	T	0.191	0.46948	.	.	0.617553467032	0.61445	0.5765351129843146	0.57582	0.443457838412	0.44272	0.422725081444	0.28211	T	.	.	.	-0.396013	0.02459	T	-0.340255	0.40316	T	0.0170417205810395	0.00452	T	0.929807	0.74042	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32153	B	.	.	3.441245	0.47869	22.5	0.99767462866848722	0.85583	0.84598	0.43681	D	AEFDI	0.254721	0.37398	N	0.550914154922702	0.70138	5.457689	0.524477752706873	0.69640	5.389526	0.983722070684218	0.30605	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.5	4.5	0.54382	3.487000	0.52986	8.727000	0.78176	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.374	0.87277	69	0.97055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1435.98	34	chr3	52392627	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.074;DP=810;ExcessHet=0.0000;FS=2.418;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-5.960e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1450,0,1221	20	0	1	0
chr3	52435925	52435925	G	T	exonic	SEMA3G	.	nonsynonymous SNV	SEMA3G:NM_020163:exon16:c.C2027A:p.A676D,	.	.	415	1090	16	1	0	18	0.00818926	.	.	3199364	SEMA3G-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.081	B	0.066	B	0.001	N	1.000	N	2.005	M	-1.31	T	-0.687	T	0.413	T	0.488	0.544	6.942	4.71	2.451	1.478	13.860	0.346	0.0515469133001	0.0019	0.000798722	0.0026	0.0002	0.0022	0	0.0006	0.0029	0.0022	0.0055	0.0025291	391	154602	rs149805640	0.0028	0.0028	0.0026	0.0029	0.0081	0.0027	0.0027	0.0063	0.0056	0.0006	0.0029	0.0024	5.038e-05	0.0003	0.0081	0.0027	0.0037	0.0055	0.0019	0.0019	0.0016	0.0021	0.0046	0.0017	0.0016	0.0037	0.0034	0.0003	0	0.0046	0.0046	0	0	0.0102	0.0023	0.0038	0.0037	0.474	0.08384	T	0.509	0.10857	T	0.081	0.24602	B	0.066	0.27432	B	0.001044	0.40475	N	0.156351	1	0.08975	N	1.975	0.53506	M	-1.31	0.79666	T	-0.79	0.21860	N	0.131	0.12627	-0.6867	0.61062	T	0.413	0.76081	T	10	0.0064661503	0.00146	T	0.051547	0.64705	D	0.346	0.66769	.	.	0.722918377869	0.72047	0.6304994316280946	0.62983	0.559114294219	0.52467	0.519995212555	0.41626	T	0.031853	0.22228	T	-0.31175	0.07595	T	-0.219217	0.52811	T	0.0256077404468672	0.01352	T	0.633137	0.24745	T	0.17525576	0.38374	0.19189392	0.42674	0.17525576	0.38374	0.19189392	0.42673	-5.651	0.43255	T	.	.	0.139	0.30450	B	.	.	2.734235	0.35793	19.99	0.92604600904607093	0.22068	0.16604	0.19465	N	AEFDBI	0.257935	0.37657	N	-0.445058434009325	0.23908	1.287209	-0.422965203171445	0.24325	1.331397	0.999963371953726	0.48965	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	1.330000	0.33387	7.364000	0.58360	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.976000	0.56436	0.0:0.1996:0.8003:0.0	13.860	0.63052	68	0.97118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1293.98	38	chr3	52435925	.	G	T	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.908e+00;DP=804;ExcessHet=0.0000;FS=3.730;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.749;SOR=0.418	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1308,0,1232	20	0	1	0
chr3	56633868	56633868	G	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon18:c.C2923A:p.Q975K	.	.	431	1038	48	5	0	58	0.027179	.	.	708997	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.2	B	0.051	B	.	.	1.000	D	1.1	L	2.76	T	-1.094	T	0.021	T	0.258	2.744	15.13	4.69	2.801	4.602	15.662	0.087	.	0.0012	0.00539137	0.0080	0.0008	0.0030	0	0.0007	0.0026	0.0076	0.0397	0.0051616	798	154602	rs200904014	0.0041	0.0041	0.0031	0.0050	0.0341	0.0040	0.0040	0.0330	0.0326	0.0005	0.0014	0.0007	0.0001	0.0004	0.0182	0.0023	0.0044	0.0341	0.0023	0.0023	0.0021	0.0026	0.0282	0.0021	0.0020	0.0244	0.0229	0.0003	0	0.0022	0.0006	0.0002	9.434e-05	0.0068	0.0023	0.0033	0.0282	0.109	0.29288	T	0.448	0.13030	T	0.2	0.29645	B	0.051	0.25434	B	.	.	.	.	1	0.81001	D	.	.	.	2.76	0.11515	T	-0.74	0.20791	N	0.238	0.26837	-1.0940	0.04899	T	0.021	0.08824	T	9	0.00344491	0.00061	T	.	.	.	0.087	0.25287	.	.	0.082315109003	0.07666	.	.	0.361154789686	0.37775	0.47948050499	0.35985	T	.	.	.	-0.519304	0.00444	T	-0.493653	0.23008	T	0.00853554385659028	0.00104	T	0.873313	0.58144	D	.	.	.	.	.	.	.	.	-3.72	0.19614	T	.	.	0.097	0.15966	B	.	.	3.751016	0.53764	23.4	0.98952803109616327	0.49170	0.88481	0.48429	D	AEFBCI	0.550794	0.56313	D	-0.10567149547457	0.37144	2.156905	0.102129240639342	0.44657	2.743241	0.850442536593728	0.25034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	4.69	0.58546	5.023000	0.63858	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8623:0.1377	15.662	0.76948	283	0.88803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1167.98	40	chr3	56633868	.	G	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e+00;DP=870;ExcessHet=0.0000;FS=1.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-5.860e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1182,0,1269	20	0	1	0
chr3	58653691	58653691	C	T	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.G104A:p.R35H,	.	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.992	D	0.599	P	0.009	N	0.620	D	1.7	L	1.85	T	-0.811	T	0.115	T	0.349	3.164	16.58	3.38	1.156	1.522	9.779	0.063	.	0.0068	0.00259585	0.0071	0.0018	0.0030	0.0001	0.0057	0.0107	0.0033	0.0032	0.0067981	1051	154602	rs13097314	0.0071	0.0071	0.0071	0.0071	0.0081	0.0070	0.0069	0.0080	0.0079	0.0010	0.0047	0.0005	0.0004	0.0069	0.0042	0.0081	0.0065	0.0030	0.0054	0.0054	0.0056	0.0051	0.0085	0.0051	0.0049	0.0079	0.0077	0.0015	0	0.0062	0.0006	0.0002	0.0057	0	0.0085	0.0052	0.0027	0.105	0.47320	T	0.292	0.20877	T	0.992	0.64738	D	0.599	0.50715	P	0.008602	0.30756	N	0.262588	0.619856	0.32695	D	2.005	0.54552	M	0.6	0.53731	T	-1.2	0.40082	N	0.289	0.32701	-0.8114	0.54466	T	0.115	0.40763	T	10	0.0070091486	0.00159	T	.	.	.	0.063	0.18251	.	.	0.607205898885	0.60405	0.42217253051544185	0.42134	0.130150782498	0.14680	0.343895494938	0.17019	T	0.02659	0.20767	T	-0.42537	0.01582	T	-0.375829	0.36210	T	0.0180318163346801	0.00527	T	0.755524	0.37862	T	0.0651721	0.13902	0.05647457	0.10099	0.0651721	0.13901	0.05647457	0.10098	-3.607	0.17958	T	.	.	0.118	0.28807	B	.;.;.	.;.;.	3.421100	0.47502	22.5	0.99870505638251272	0.94815	0.76413	0.37474	D	AEFBI	0.170758	0.29769	N	0.0978670330124511	0.46363	2.877822	0.0763986621505273	0.43364	2.639726	0.00330133000668038	0.10046	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.26	3.38	0.37806	1.425000	0.34467	0.981000	0.23125	0.589000	0.31548	0.968000	0.34134	0.448000	0.24938	0.640000	0.32422	0.2049:0.795:0.0:0.0	9.779	0.39804	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1126.98	33	chr3	58653691	.	C	T	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.689;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=0.014;SOR=0.740	GT:AD:DP:GQ:PL	0/1:68,48:116:99:1141,0,1612	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|1:79,69:148:99:0|1:75730450_C_T:2618,0,3106:75730450	0	0	20	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|1:141,35:176:99:0|1:75736884_G_GA:1037,0,5758:75736884	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|1:143,36:179:99:0|1:75736884_G_GA:1073,0,5783:75736884	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|1:149,31:180:99:0|1:75736908_C_T:853,0,6163:75736908	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|1:150,31:181:99:0|1:75736908_C_T:850,0,6198:75736908	0	0	21	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	0/1:163,50:213:99:.:.:1609,0,6694	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	0/1:164,50:214:99:.:.:1606,0,6736	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	0/1:177,47:224:99:.:.:1441,0,7291	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	0/1:176,41:217:99:.:.:1192,0,7267	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	0/1:167,22:189:99:.:.:421,0,6936	0	0	21	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|1:129,85:214:99:1|0:75737511_A_T:3000,0,4968:75737511	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|1:139,92:231:99:0|1:75737590_A_G:3419,0,5511:75737590	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|1:136,98:234:99:0|1:75737590_A_G:3706,0,5416:75737590	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|1:151,103:254:99:0|1:75737590_A_G:3870,0,6030:75737590	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|1:163,105:268:99:0|1:75737590_A_G:3918,0,6528:75737590	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|1:147,105:252:99:0|1:75737590_A_G:3966,0,5856:75737590	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|1:204,60:264:99:0|1:75737814_C_T:1905,0,8349:75737814	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|1:217,38:255:99:0|1:75737881_T_C:719,0,8765:75737881	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|1:217,31:248:99:0|1:75737881_T_C:554,0,8968:75737881	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|1:218,27:245:99:0|1:75737881_T_C:440,0,8987:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,34:277:99:0|1:75737994_T_C:684,0,9917:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,28:249:99:0|1:75737994_T_C:510,0,9195:75737994	5	0	13	3
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R	.	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	.	.	1.000	N	-0.87	N	3.21	T	-0.915	T	0.007	T	0.332	-1.903	0.008	-0.593	-0.086	-0.759	2.786	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.2	2892.1	214	chr3	75738071	.	A	G	2892.1	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.740e-01;DP=3983;ExcessHet=3.5521;FS=8.270;InbreedingCoeff=-0.2377;MLEAC=8;MLEAF=0.200;MQ=57.37;MQRankSum=-1.015e+01;QD=1.67;ReadPosRankSum=-1.907e+00;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,20:235:99:0|1:75737994_T_C:193,0,8968:75737994	12	0	8	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C	.	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	1.21	L	3.11	T	-0.989	T	0.016	T	0.343	0.147	4.790	-3.58	-1.677	-0.063	5.171	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.2	1932.26	212	chr3	75738074	.	G	A	1932.26	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-9.700e-02;DP=3886;ExcessHet=3.5521;FS=8.966;InbreedingCoeff=-0.2654;MLEAC=8;MLEAF=0.200;MQ=57.53;MQRankSum=-9.911e+00;QD=1.13;ReadPosRankSum=-2.333e+00;SOR=1.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,18:236:99:0|1:75737994_T_C:100,0,9100:75737994	12	0	8	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V	.	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.56	H	0.99	T	-0.796	T	0.314	T	0.499	2.958	15.86	1.91	1.185	4.477	7.900	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.2	1551.64	205	chr3	75738077	.	A	C	1551.64	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-1.917e+00;DP=3863;ExcessHet=3.5521;FS=11.803;InbreedingCoeff=-0.2553;MLEAC=8;MLEAF=0.200;MQ=57.57;MQRankSum=-9.670e+00;QD=0.92;ReadPosRankSum=-2.700e+00;SOR=1.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,16:226:40:0|1:75737994_T_C:40,0,8770:75737994	12	0	8	1
chr3	75738346	75738346	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1277G:p.D426G	.	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.625	P	0.246	B	.	.	1.000	N	0.465	N	3.19	T	-0.970	T	0.012	T	0.387	0.829	8.344	-1.43	-0.263	-1.033	3.653	0.079	0.00157043738241	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879020387	0.0007	0.0007	0.0004	0.0010	0.0117	0.0007	0.0007	0.0111	0.0108	0	2.849e-05	0	5.744e-05	0	0.0002	2.81e-06	0.0008	0.0117	0.0004	0.0004	0.0002	0.0007	0.0132	0.0003	0.0003	0.0106	0.0097	0	0	0	0	0	0	0	0	0	0.0132	0.096	0.31088	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-0.93	0.24898	N	0.146	0.14763	-0.9695	0.37304	T	0.012	0.04653	T	9	0.0047684014	0.00101	T	0.00157	0.02497	T	0.079	0.23065	.	.	0.0297737177859	0.01360	0.0025789429370471208	0.00239	.	.	0.440825641155	0.30690	T	.	.	.	-0.241313	0.15182	T	-0.584406	0.14154	T	0.124967762573498	0.14909	T	0.339966	0.07337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37198	B	.	.	0.693887	0.10624	7.327	0.94663330734589946	0.25280	0.00604	0.02691	N	AEFDBHCI	0.027213	0.02183	N	-0.978679924300545	0.09059	0.4272455	-1.15547001181155	0.06670	0.3218333	0.999960434078766	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.75	-1.43	0.08418	-1.023000	0.03718	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2216:0.0:0.4486:0.3298	3.653	0.07747	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	0.02381	1800.98	171	chr3	75738346	.	T	C	1800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.937;DP=3811;ExcessHet=0.0000;FS=3.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.59;MQRankSum=6.36;QD=7.38;ReadPosRankSum=-8.960e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:164,80:244:99:1815,0,5452	20	0	1	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	0/1:76,23:99:99:339,0,2141	0	0	21	0
chr3	88467137	88467137	G	C	exonic	CSNKA2IP	.	nonsynonymous SNV	CSNKA2IP:NM_001368165:exon2:c.G1780C:p.D594H	.	.	498	1020	3	1	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs553847678	0.0003	0.0003	0.0002	0.0003	0.0087	0.0002	0.0002	0.0062	0.0054	0	0	0	4.357e-05	0	0.0030	0.0002	0.0004	0.0087	0.0003	0.0003	0.0002	0.0005	0.0091	0.0003	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.355e-05	0	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03327939	0.01500	T	.	.	.	.	.	.	.	.	.	0.04547636252887201	0.04491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505949	0.15996	T	0.09049101	0.21175	0.19390145	0.42984	0.09049101	0.21175	0.19390145	0.42983	-3.649	0.18568	T	.	.	0.675	0.71933	P	.	.	4.143791	0.62103	24.4	0.71298972143786876	0.09582	0.78093	0.38479	D	AEFI	.	.	.	.	.	.	.	.	.	2.08141837707866E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.700406	0.42877	4.71	3.75	0.42236	1.958000	0.40027	7.218000	0.57839	0.589000	0.31548	0.978000	0.35038	1.000000	0.68203	0.989000	0.64315	0.1261:0.0:0.8739:0.0	6.989	0.23925	807	0.43470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	31.47	3	chr3	88467137	.	G	C	31.47	.	AC=2;AF=0.056;AN=36;DP=149;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4170;MLEAC=1;MLEAF=0.028;MQ=60.00;QD=15.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	17	1	0	3
chr3	97872638	97872638	A	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.A1444G:p.S482G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.034	B	0.053	B	.	.	.	.	0	N	.	.	-0.945	T	0.085	T	0.08	1.641	11.45	5.54	2.253	3.642	12.382	0.063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275720693	3.614e-06	3.42e-06	2.854e-06	4.394e-06	.	1.06e-06	7.7e-07	.	.	0	0	0.0002	0	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	-0.9452	0.41781	T	0.085	0.33157	T	7	0.05533442	0.06031	T	.	.	.	.	.	0.108	0.01928	0.318540980066	0.31459	0.03117744300148179	0.03066	.	.	0.302836418152	0.10825	T	0.002812	0.02207	T	-0.22275	0.17618	T	-0.557742	0.16589	T	0.206638440489769	0.20777	T	0.332967	0.07033	T	0.12926772	0.30197	0.19615456	0.43331	0.12926772	0.30197	0.19615456	0.43330	-4.729	0.33754	T	.	.	0.086	0.10642	B	.	.	2.424042	0.31176	18.66	0.98972277043059709	0.49560	0.88934	0.49109	D	ALL	0.283089	0.39627	N	-0.409609654799359	0.25131	1.362	-0.237916553393413	0.30190	1.69769	0.999999999999781	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.678554	0.66404	0	.	.	5.54	5.54	0.82907	3.452000	0.52735	4.425000	0.43330	0.756000	0.94297	0.790000	0.29595	0.437000	0.24884	0.447000	0.27828	1.0:0.0:0.0:0.0	12.382	0.54639	797	0.45241	.	.	.	.	.	.	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	2148.98	34	chr3	97872638	.	A	G	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.702;DP=1231;ExcessHet=0.0000;FS=1.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.893;SOR=0.571	GT:AD:DP:GQ:PL	0/1:72,85:157:99:2163,0,1727	20	0	1	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	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	0	0	0	0	0	0	0	0.07895	73.95	40	chr3	97876679	.	G	A	73.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.141e+00;DP=2512;ExcessHet=0.3300;FS=138.063;InbreedingCoeff=-0.1030;MLEAC=2;MLEAF=0.053;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=1.12;SOR=8.801	GT:AD:DP:GQ:PL	0/1:116,30:146:7:7,0,2290	16	0	3	2
chr3	98025619	98025619	C	G	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.G186C:p.E62D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	7.677e-05	2.526e-05	1.873e-05	0.0002	0.0004	0.0003	4.662e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.37173	T	0.029	0.19866	B	0.098	0.30479	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.10471362	0.19318	T	.	.	.	.	.	.	.	0.352476196916	0.34857	0.40720103366486365	0.40636	.	.	.	.	.	0.006922	0.06344	T	-0.218202	0.18239	T	-0.551208	0.17211	T	.	.	.	0.407359	0.10471	T	0.03210559	0.03173	0.050597325	0.07975	0.03210559	0.03173	0.050597325	0.07974	-3.351	0.14404	T	.	.	0.132	0.28435	B	.;.	.;.	0.811300	0.11821	8.392	0.99029985120482455	0.50786	0.65308	0.32694	D	AEFBHCI	0.127138	0.24438	N	.	.	.	.	.	.	0.114311401285484	0.16729	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	-0.445	0.11631	-0.039000	0.12076	.	.	0.597000	0.34315	0.594000	0.27698	0.000000	0.08366	0.053000	0.15439	0.145:0.4054:0.0:0.4496	5.182	0.14491	772	0.48957	.;.	.	.	.	.	.	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	155.59	57	chr3	98025619	.	C	G,T	155.59	.	AC=1,3;AF=0.025,0.075;AN=40;BaseQRankSum=-3.105e+00;DP=1411;ExcessHet=0.6776;FS=340.609;InbreedingCoeff=-0.1204;MLEAC=1,3;MLEAF=0.025,0.075;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.606;SOR=10.823	GT:AD:DP:GQ:PL	0/1:90,39,0:129:47:47,0,1295,290,1395,1686	16	0	1	1
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,34,0:135:99:0|1:98133456_ACCCC_A:675,0,3791,865,3931,4961:98133456	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,34,0:135:99:0|1:98133456_ACCCC_A:675,0,3791,865,3931,4961:98133456	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;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	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,0,34:135:99:0|1:98133456_ACCCC_A:675,865,4961,0,3931,3791:98133456	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,0,34:135:99:0|1:98133456_ACCCC_A:675,865,4961,0,3931,3791:98133456	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:101,0,34:135:99:0|1:98133456_ACCCC_A:675,865,4961,0,3931,3791:98133456	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,21,6,0,0,0:127:99:.:.:678,0,3769,461,3767,4711,862,3904,4587,4905,862,3904,4587,4905,4905,862,3904,4587,4905,4905,4905	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,21,6,0,0,0:127:99:.:.:678,0,3769,461,3767,4711,862,3904,4587,4905,862,3904,4587,4905,4905,862,3904,4587,4905,4905,4905	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;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	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,21,6,0,0,0:127:99:.:.:678,0,3769,461,3767,4711,862,3904,4587,4905,862,3904,4587,4905,4905,862,3904,4587,4905,4905,4905	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,21,6,0,0,0:127:99:.:.:678,0,3769,461,3767,4711,862,3904,4587,4905,862,3904,4587,4905,4905,862,3904,4587,4905,4905,4905	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,21,6,0,0,0:127:99:.:.:678,0,3769,461,3767,4711,862,3904,4587,4905,862,3904,4587,4905,4905,862,3904,4587,4905,4905,4905	0	0	5	10
chr3	98169297	98169297	T	C	exonic	OR5H15	.	nonsynonymous SNV	OR5H15:NM_001005515:exon1:c.T598C:p.F200L,	.	.	433	1081	7	1	0	9	0.00414556	.	.	2827588	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.329	B	0.327	B	0.000	D	1.000	N	0.875	L	8.84	T	-1.052	T	0.000	T	0.24	0.906	8.687	2.48	1.138	0.314	8.498	0.041	.	0.0055	0.00339457	0.0069	0.0010	0.0012	0	0.0176	0.0103	0.0045	0.0006	0.0060801	940	154602	rs147066998	0.0072	0.0072	0.0075	0.0069	0.0079	0.0071	0.0070	0.0077	0.0077	0.0011	0.0011	0.0053	2.529e-05	0.0191	0.0030	0.0079	0.0070	0.0007	0.0058	0.0058	0.0055	0.0061	0.0083	0.0055	0.0054	0.0078	0.0076	0.0014	0	0.0016	0.0052	0	0.0189	0.0068	0.0083	0.0066	0.0002	.	.	.	.	.	.	0.329	0.33227	B	0.327	0.41976	B	0.000182	0.48115	D	0.000000	1	0.08975	N	0.97	0.24054	L	.	.	.	.	.	.	.	.	-1.0522	0.13790	T	0.000	0.00114	T	10	0.004107207	0.00081	T	.	.	.	.	.	0.456	0.52102	.	.	0.09222979570973336	0.09155	.	.	0.280691593885	0.07588	T	0.012683	0.11106	T	-0.589348	0.00169	T	-0.612511	0.11783	T	0.045165754101796	0.04632	T	0.590841	0.21745	T	0.49135414	0.66583	0.34380898	0.60087	0.49135414	0.66584	0.34380898	0.60087	-4.331	0.28610	T	.	.	0.574	0.71619	P	.;.	.;.	2.170966	0.27664	17.54	0.72736061803663132	0.10077	0.02954	0.07786	N	AEI	0.044564	0.07185	N	-0.791147068565641	0.13539	0.6677436	-0.886533680681822	0.12412	0.6383249	3.82598782376753E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	0.445000	0.21392	.	.	0.585000	0.30472	0.000000	0.06391	0.004000	0.18990	0.068000	0.16518	0.0:0.0:0.0:1.0	8.498	0.32302	768	0.49510	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	0.02381	2626.98	109	chr3	98169297	.	T	C	2626.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=2115;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.81;MQRankSum=1.74;QD=15.27;ReadPosRankSum=0.365;SOR=0.719	GT:AD:DP:GQ:PL	0/1:81,91:172:99:2641,0,2182	20	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.007	B	0.626	N	0.999	N	0.55	N	-2.79	D	-0.614	T	0.561	D	0.252	3.430	17.60	5.86	2.241	5.505	14.197	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	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	0.2	566.96	141	chr3	99790960	.	T	C	566.96	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.024e+00;DP=2798;ExcessHet=3.5521;FS=92.750;InbreedingCoeff=-0.2560;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.888;SOR=10.380	GT:AD:DP:GQ:PL	0/1:136,37:173:17:17,0,2632	12	0	8	1
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	0/1:28,21:49:99:.:.:229,0,353	4	0	17	0
chr3	107798693	107798693	C	G	exonic	BBX	.	nonsynonymous SNV	BBX:NM_020235:exon15:c.C2434G:p.R812G	.	.	432	1089	1	0	0	1	0.000458926	.	.	2725478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.997	D	0.986	D	0.000	D	1.000	D	0.805	L	1.55	T	1.083	D	0.925	D	0.848	4.696	26.0	5.96	2.826	3.598	20.401	0.330	0.30503890382	.	.	8.286e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs376586358	1.231e-05	1.231e-05	9.529e-06	1.513e-05	0.0009	7.7e-06	6.35e-06	0.0003	0.0002	0	4.472e-05	0	0	0	0.0009	7.194e-06	4.967e-05	0	6.582e-06	6.57e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.04	0.55341	D	0.997	0.70673	D	0.986	0.76916	D	0.000042	0.53742	D	0.166719	0.999898	0.81001	D	.	.	.	1.55	0.98020	T	-2.84	0.80851	D	0.387	0.43126	1.083	0.98967	D	0.925	0.97537	D	10	0.5337547	0.63330	D	0.305039	0.91006	D	0.330	0.65226	0.315	0.29096	0.892024225134	0.89095	0.35293404145461454	0.35207	0.724124553774	0.62372	0.681325316429	0.64458	T	0.094635	0.42112	T	0.375684	0.88430	D	0.432318	0.93115	D	0.925509572029114	0.58726	D	0.932307	0.74741	D	0.3078582	0.53600	0.4317332	0.66781	0.3078582	0.53600	0.4317332	0.66782	-3.563	0.27484	T	.	.	0.391	0.62655	A	.;.;.;.;.	.;.;.;.;.	4.355962	0.66946	25.0	0.99840094028592419	0.92057	0.94743	0.62177	D	AEFDBIJ	.	.	.	0.542734134990064	0.69642	5.385921	0.61399667313309	0.75956	6.403078	0.999999999995808	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636	0.56748	0	.	.	5.96	5.96	0.96695	4.231000	0.58439	5.997000	0.52425	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.401	0.98992	594	0.68584	.;.;.;.;.	.	.	.	.	.	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	740.98	33	chr3	107798693	.	C	G	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=767;ExcessHet=0.0000;FS=2.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-7.140e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:45,32:77:99:755,0,1048	20	0	1	0
chr3	112169290	112169290	A	T	exonic	SLC9C1	.	nonsynonymous SNV	SLC9C1:NM_001320531:exon23:c.T2814A:p.F938L	.	.	435	1084	3	0	0	3	0.00138185	.	.	697750	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.996	D	0.000	N	1.000	N	0.89	L	-2.88	D	-0.029	T	0.674	D	0.432	3.322	17.17	3.39	0.438	4.908	10.268	0.432	.	0.0047	0.00359425	0.0064	0.0012	0.0017	0	0.0059	0.0093	0.0089	0.0046	0.0064941	1004	154602	rs144423530	0.0077	0.0077	0.0077	0.0078	0.0089	0.0076	0.0076	0.0088	0.0087	0.0006	0.0035	0.0016	0	0.0076	0.0017	0.0089	0.0057	0.0048	0.0061	0.0061	0.0060	0.0063	0.0098	0.0058	0.0057	0.0092	0.0090	0.0012	0.0033	0.0072	0.0014	0.0004	0.0067	0	0.0098	0.0038	0.0039	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000211	0.47681	N	0.093937	0.999951	0.19072	N	1.52	0.38360	L	-2.88	0.91533	D	-4.91	0.83557	D	0.694	0.69913	-0.0293	0.81645	T	0.674	0.88696	D	10	0.015887707	0.00334	T	.	.	.	0.432	0.73807	0.679	0.81691	0.589131389434	0.58588	0.4557867718362405	0.45496	0.386311765763	0.39923	0.53951561451	0.44377	T	0.53721	0.84089	D	-0.255318	0.13454	T	-0.127846	0.61154	T	0.0535679611152521	0.06117	T	.	.	.	0.38036737	0.59343	0.32286474	0.58223	0.38036737	0.59344	0.32286474	0.58222	-5.903	0.46028	T	.	.	0.742	0.76179	P	.;.	.;.	2.936961	0.39040	20.9	0.98761635769132106	0.45816	0.72887	0.35662	D	AEFI	0.479784	0.52178	N	-0.147937583161936	0.35323	2.027414	-0.232042399387118	0.30396	1.711011	4.39839553939223E-4	0.06970	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.83	3.39	0.37919	4.949000	0.63298	3.636000	0.39331	-0.118000	0.14412	0.998000	0.41325	0.993000	0.31925	0.094000	0.17991	0.6796:0.3204:0.0:0.0	10.268	0.42646	830	0.39242	Cyclic nucleotide-binding domain|Cyclic nucleotide-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	0.02381	1423.98	35	chr3	112169290	.	A	T	1423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.735e+00;DP=842;ExcessHet=0.0000;FS=6.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-9.290e-01;SOR=0.322	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1438,0,1425	20	0	1	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	1/2:0,36,45,0,0,0:81:99:3321,1874,1762,1454,0,1627,3346,1894,1622,3488,3346,1894,1622,3488,3488,3346,1894,1622,3488,3488,3488	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	1/2:0,36,45,0,0,0:81:99:3321,1874,1762,1454,0,1627,3346,1894,1622,3488,3346,1894,1622,3488,3488,3346,1894,1622,3488,3488,3488	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	1/2:0,36,45,0,0,0:81:99:3321,1874,1762,1454,0,1627,3346,1894,1622,3488,3346,1894,1622,3488,3488,3346,1894,1622,3488,3488,3488	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	1/2:0,36,45,0,0,0:81:99:3321,1874,1762,1454,0,1627,3346,1894,1622,3488,3346,1894,1622,3488,3488,3346,1894,1622,3488,3488,3488	0	4	0	0
chr3	123271708	123271708	G	A	exonic	SEC22A	.	nonsynonymous SNV	SEC22A:NM_012430:exon7:c.G910A:p.D304N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.825	P	0.000	D	1.000	D	2.485	M	1.98	T	-0.914	T	0.144	T	0.104	4.960	28.9	5.84	2.765	9.476	20.139	0.199	0.0533765115749	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs763566783	1.437e-05	1.437e-05	1.225e-05	1.65e-05	0.0001	9.23e-06	7.84e-06	5.849e-05	3.758e-05	0.0001	0.0001	0	0	0	0	6.296e-06	0	4.638e-05	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0.0005	0.0002	0.0	0.91255	D	0.329	0.18617	T	0.998	0.73220	D	0.825	0.59331	P	0.000000	0.84330	D	0.046596	1	0.81001	D	2.66	0.77858	M	1.98	0.21865	T	-1.49	0.36385	N	0.636	0.64903	-0.9145	0.46285	T	0.144	0.46605	T	10	0.41024202	0.56174	T	0.053377	0.65443	D	0.199	0.48268	0.244	0.17830	0.591365477771	0.58813	0.7519831047034059	0.75145	0.341506169282	0.36087	0.658751726151	0.61231	T	0.061	0.31643	T	-0.327694	0.06287	T	-0.453441	0.27318	T	0.532513809081598	0.33827	D	0.945605	0.79272	D	0.39972082	0.60713	0.41291514	0.65480	0.39972082	0.60713	0.41291514	0.65481	-4.374	0.29202	T	.	.	0.116	0.23360	B	.;.	.;.	5.134397	0.85931	28.8	0.99884157485778358	0.95970	0.99351	0.94882	D	AEFDGBIJ	0.903019	0.85162	D	0.890875063535803	0.91304	10.817	0.889061160171714	0.95078	13.29178	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.84	5.84	0.93373	9.602000	0.97623	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	20.139	0.98050	635	0.64580	.;.	.	.	.	.	.	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	1295.98	34	chr3	123271708	.	G	A	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=826;ExcessHet=0.0000;FS=3.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.105;SOR=1.102	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1310,0,1545	20	0	1	0
chr3	125001863	125001863	C	T	exonic	HEG1	.	nonsynonymous SNV	HEG1:NM_020733:exon11:c.G3506A:p.R1169Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.998	D	0.811	P	0.314	U	1.000	N	0.695	N	-2.37	D	0.281	D	0.846	D	0.374	1.518	11.03	5.65	2.941	0.802	9.648	0.327	0.0651322746164	.	0.000199681	0.0002	0.0001	0	0	0	5.266e-05	0	0.0015	0.0001617	25	154602	rs528833591	6.847e-05	6.909e-05	3.269e-05	0.0001	0.0010	5.718e-05	5.331e-05	0.0008	0.0008	5.975e-05	0	0	5.042e-05	0	0	7.198e-06	3.315e-05	0.0010	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.996e-05	4.813e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0006	0.029	0.45756	D	0.252	0.23570	T	0.998	0.73220	D	0.811	0.58656	P	0.313777	0.14388	U	0.503050	1	0.08975	N	1.79	0.46772	L	-2.37	0.97218	D	-2.06	0.52612	N	0.273	0.30914	0.281	0.87251	D	0.846	0.94843	D	10	0.03726062	0.02070	T	0.065132	0.69487	D	0.327	0.64926	0.52	0.62217	0.901112211887	0.90013	0.42016296476931464	0.41932	0.443254346901	0.44260	0.372453123331	0.21183	T	0.076461	0.35424	T	-0.144427	0.29187	T	-0.0306773	0.68323	D	0.101276060207108	0.12496	T	0.843516	0.52087	T	0.0930566	0.21847	0.077035055	0.17122	0.0930566	0.21847	0.077035055	0.17122	-6.1	0.47109	T	.	.	0.155	0.34339	B	.;.	.;.	3.724936	0.53253	23.3	0.99292056536831141	0.58290	0.34456	0.25071	N	AEFDGBHCI	0.073364	0.14672	N	0.0764079699057364	0.45364	2.794156	0.0557014538911373	0.42349	2.559859	0.999999910933021	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	0.796000	0.26646	4.717000	0.44485	0.599000	0.40250	0.000000	0.06391	0.831000	0.27213	0.975000	0.56047	0.1568:0.6922:0.151:0.0	9.648	0.39042	496	0.76301	.;.	.	.	.	.	.	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	1121.98	39	chr3	125001863	.	C	T	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=774;ExcessHet=0.0000;FS=0.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.75;ReadPosRankSum=0.772;SOR=0.543	GT:AD:DP:GQ:PL	0/1:25,42:67:99:1136,0,563	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|1:52,19:71:99:0|1:128055734_T_C:201,0,1152:128055734	7	0	14	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|2:54,0,14,0:68:99:0|1:130421335_G_C:197,358,2083,0,1725,1684,358,2083,1725,2083:130421335	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|2:54,0,14,0:68:99:0|1:130421335_G_C:197,358,2083,0,1725,1684,358,2083,1725,2083:130421335	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|2:54,0,14,0:68:99:0|1:130421335_G_C:197,358,2083,0,1725,1684,358,2083,1725,2083:130421335	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|1:54,14,0:68:99:0|1:130421335_G_C:197,0,1684,358,1725,2083:130421335	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|1:54,14,0:68:99:0|1:130421335_G_C:197,0,1684,358,1725,2083:130421335	0	0	14	6
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.060	N	1.000	D	1.98	M	1.67	T	-0.981	T	0.142	T	0.992	3.877	19.70	2.24	0.505	0.421	7.683	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	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	0.08333	33.3	121	chr3	133811164	.	G	C	33.3	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.169e+00;DP=2243;ExcessHet=0.3300;FS=109.461;InbreedingCoeff=-0.1346;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=0.524;SOR=9.250	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,31:188:40:0|1:133811157_G_C:40,0,5751:133811157	15	0	3	3
chr3	149527888	149527888	T	A	exonic	WWTR1	.	nonsynonymous SNV	WWTR1:NM_001168280:exon5:c.A853T:p.T285S	.	.	427	1016	74	5	0	84	0.0396975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.190	N	0.946	N	0.455	N	1.05	T	-1.021	T	0.025	T	0.072	2.398	13.98	3.92	2.046	2.609	7.488	0.114	.	0.0048	0.0195687	0.0145	0.0044	0.0047	0.0013	0.0020	0.0079	0.0088	0.0668	0.0130529	2018	154602	rs28763914	0.0095	0.0095	0.0078	0.0113	0.0648	0.0094	0.0093	0.0633	0.0628	0.0043	0.0057	0.0320	0.0009	0.0018	0.0288	0.0055	0.0118	0.0648	0.0082	0.0083	0.0070	0.0095	0.0685	0.0079	0.0077	0.0624	0.0600	0.0045	0	0.0105	0.0334	0.0012	0.0009	0.0340	0.0061	0.0099	0.0685	1.0	0.00964	T	1.0	0.03945	T	0.0	0.02946	B	0.001	0.04355	B	0.189626	0.16881	N	0.622461	0.945773	0.26651	N	0.405	0.12330	N	1.05	0.39990	T	0.6	0.02853	N	0.277	0.32481	-1.0210	0.23389	T	0.025	0.10866	T	10	0.0015960932	0.00018	T	.	.	.	0.114	0.32008	0.065	0.00293	.	.	0.290718380610075	0.28984	0.42995996695	0.43261	0.481068134308	0.36204	T	0.214331	0.57588	T	-0.644689	0.00078	T	-0.650148	0.08944	T	0.0179148183194432	0.00518	T	0.476852	0.14330	T	0.07942054	0.18144	0.04499123	0.05953	0.07942054	0.18143	0.04499123	0.05953	-4.436	0.30042	T	0.1702844105836142	0.21400	0.074	0.10545	B	.;.;.;.	.;.;.;.	2.307038	0.29529	18.15	0.87434686040373133	0.17225	0.89995	0.50835	D	ALL	0.790365	0.71928	D	-0.400604213907978	0.25447	1.381	-0.180672069225818	0.32247	1.832765	0.999999999898381	0.74766	0.758104	0.99027	0	0.588066	0.40923	0	0.691618	0.62860	0	0.648885	0.59868	0	.	.	5.09	3.92	0.44525	2.685000	0.46626	3.438000	0.38361	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0762:0.1435:0.7804	7.488	0.26617	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	894.98	39	chr3	149527888	.	T	A	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-1.411e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:26,37:63:99:909,0,576	20	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	.	436	1039	45	2	0	49	0.0230371	.	.	3221779	MECOM-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.548	P	0.089	B	.	.	1.000	D	1.795	L	2.93	T	-0.430	T	0.301	T	0.423	4.026	20.6	6.07	2.885	5.423	20.659	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2633.11	35	chr3	169143748	.	C	A	2633.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.949;DP=864;ExcessHet=0.1072;FS=1.684;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-2.810e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1527,0,1391	19	0	2	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.069	B	0.000	D	0.833	D	0.145	N	-2.32	D	-0.070	T	0.405	T	0.407	3.124	16.44	5.88	2.250	2.889	12.983	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	652.74	158	chr3	179875393	.	T	C	652.74	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.375e+00;DP=2194;ExcessHet=0.3300;FS=111.995;InbreedingCoeff=-0.0784;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.15;ReadPosRankSum=1.70;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,37:205:99:0|1:179875392_T_C:370,0,5693:179875392	18	0	3	0
chr3	184187749	184187749	C	T	exonic	ABCF3	.	nonsynonymous SNV	ABCF3:NM_001351298:exon5:c.C416T:p.T139I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.005	B	0.019	B	0.016	N	1.000	D	0.345	N	-2.91	D	-0.064	T	0.574	D	0.109	3.002	16.01	4.57	2.098	5.612	16.356	0.233	0.0561618225424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.16	0.31427	T	0.003	0.12996	B	0.009	0.18783	B	0.015694	0.28177	N	0.370552	1	0.81001	D	0.55	0.14455	N	-2.91	0.91748	D	-1.18	0.30140	N	0.221	0.26354	-0.0642	0.80904	T	0.574	0.84595	D	10	0.17629325	0.32606	T	0.056162	0.66504	D	0.233	0.53499	0.28	0.23483	0.915065264479	0.91420	0.1954715853570167	0.19464	0.285556785333	0.30958	0.480643033981	0.36146	T	0.079707	0.36192	T	-0.0193114	0.48951	T	-0.265516	0.48272	T	0.716307699680328	0.41513	D	0.79772	0.44184	T	0.116875015	0.27560	0.08444595	0.19427	0.116875015	0.27560	0.08444595	0.19427	-4.678	0.33137	T	.	.	0.080	0.27791	B	.;.	.;.	3.046993	0.40872	21.2	0.99403666593351847	0.62934	0.94129	0.60200	D	AEFDBCI	0.704277	0.66005	D	-0.138936142963524	0.35706	2.054394	0.0553265969558257	0.42331	2.558462	0.999999999998707	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	4.57	4.57	0.55860	5.691000	0.67911	3.993000	0.41005	0.599000	0.40250	0.963000	0.33788	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.356	0.83067	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	0.02381	1027.98	40	chr3	184187749	.	C	T	1027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=839;ExcessHet=0.0000;FS=0.731;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=1.74;SOR=0.793	GT:AD:DP:GQ:PL	0/1:67,45:112:99:1042,0,1909	20	0	1	0
chr3	184957468	184957468	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon35:c.G3091A:p.V1031I	.	.	433	1085	4	0	0	4	0.00183993	.	.	804998	Flexion_contracture	Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.635	P	0.227	B	0.000	D	1.000	D	2.445	M	1.06	T	-0.862	T	0.137	T	0.474	3.047	16.17	4.72	1.349	5.598	13.754	0.180	0.0167234269749	.	0.000199681	7.868e-05	0	0.0001	0	0	8.863e-05	0	0.0001	5.82e-05	9	154602	rs566967979	6.3e-05	6.293e-05	3.27e-05	9.362e-05	0.0021	5.233e-05	4.85e-05	0.0012	0.0009	2.988e-05	0	0	0	0	0.0021	3.959e-05	0.0001	0.0003	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.093	0.31834	T	0.227	0.25514	T	0.521	0.40310	P	0.111	0.38084	B	0.000069	0.52346	D	0.127025	0.996713	0.43371	D	2.485	0.72352	M	1.06	0.39781	T	-0.65	0.18877	N	0.655	0.66529	-0.8617	0.51140	T	0.137	0.45318	T	10	0.21170217	0.37606	T	0.016723	0.38109	T	0.180	0.45073	0.463	0.53242	0.267299060538	0.26338	0.31093084398566456	0.31006	.	.	0.438448250294	0.30365	T	0.067224	0.33148	T	-0.25627	0.13340	T	-0.313742	0.43255	T	0.101022997347651	0.12469	T	0.837116	0.50934	T	0.044799224	0.07223	0.055745754	0.09836	0.044799224	0.07222	0.055745754	0.09836	-8.35	0.64030	D	.	.	0.126	0.26576	B	.;.;.;.	.;.;.;.	3.082211	0.41468	21.4	0.98918993946324763	0.48527	0.93261	0.57746	D	AEFBI	0.278942	0.39310	N	0.154748971832413	0.49035	3.10865	0.22558713515716	0.51271	3.311145	0.0178508517183418	0.12995	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.61	4.72	0.59248	5.927000	0.69800	9.823000	0.81815	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1543:0.8457:0.0	13.754	0.62410	699	0.57969	.;.;.;.	.	.	.	.	.	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	2713.11	48	chr3	184957468	.	G	A	2713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.955;DP=1066;ExcessHet=0.1072;FS=0.432;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.881;SOR=0.640	GT:AD:DP:GQ:PL	0/1:82,80:162:99:1674,0,1958	19	0	2	0
chr3	193614733	193614733	C	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_015560:exon2:c.C43A:p.Q15K	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	.	4	1458	55	5	0	65	0.0218048	.	.	101623	Optic_atrophy_with_or_without_deafness,_ophthalmoplegia,_myopathy,_ataxia,_and_neuropathy|Autosomal_dominant_optic_atrophy_classic_form|not_specified|not_provided|Mitochondrial_DNA_depletion_syndrome_14_(cardioencephalomyopathic_type)|Abortive_cerebellar_ataxia	MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500,Orphanet:98673|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000,Orphanet:1239	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.012	N	0.894	N	0.755	N	-2.09	D	-0.680	T	0.227	T	0.392	2.273	13.56	5.08	2.835	3.160	14.894	0.220	.	0.0032	0.00758786	0.0068	0.0008	0.0033	0.0177	0.0015	0.0034	0.0143	0.0223	0.0060413	934	154602	rs75414918	0.0043	0.0043	0.0035	0.0051	0.0238	0.0042	0.0041	0.0230	0.0226	0.0008	0.0023	0.0067	0.0236	0.0017	0.0186	0.0022	0.0050	0.0238	0.0031	0.0031	0.0027	0.0034	0.0168	0.0028	0.0027	0.0139	0.0128	0.0006	0	0.0028	0.0075	0.0162	0.0015	0.0136	0.0025	0.0066	0.0168	0.304	0.16738	T	0.351	0.25827	T	0.0	0.02946	B	0.0	0.01387	B	0.011971	0.29336	N	0.406211	0.893937	0.27830	N	0.695	0.17993	N	-2.09	0.86077	D	-0.17	0.14000	N	0.493	0.53972	-0.6798	0.61382	T	0.227	0.59183	T	10	0.0065462887	0.00148	T	.	.	.	0.220	0.51569	.	.	0.738843076146	0.73650	0.40007050218803836	0.39922	0.124045915619	0.13968	0.514264643192	0.40819	T	0.006467	0.47579	T	-0.296459	0.08997	T	-0.180366	0.56490	T	0.00525513114829355	0.00057	T	0.909409	0.69109	D	0.33606395	0.55964	0.09377326	0.22166	0.2908037	0.52067	0.085395366	0.19714	-4.335	0.29312	T	.	.	0.078	0.07036	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.023176	0.40473	21.2	0.96827769634480831	0.31252	0.85399	0.44528	D	AEFDGBI	0.188928	0.31620	N	-0.0500170846285696	0.39602	2.33801	0.171200702642791	0.48277	3.045737	0.999996167017284	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.743671	0.96076	0	0.662026	0.63922	0	.	.	5.98	5.08	0.68373	3.421000	0.52501	4.905000	0.45897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2512:0.7488:0.0:0.0	14.894	0.70271	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	0	0	1	0	0.02381	1522.98	36	chr3	193614733	.	C	A	1522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=852;ExcessHet=0.0000;FS=0.701;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=-1.466e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1537,0,1599	20	0	1	0
chr3	194359659	194359659	T	C	exonic	LRRC15	.	nonsynonymous SNV	LRRC15:NM_130830:exon2:c.A1385G:p.Q462R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.974	D	0.647	P	0.111	N	0.809	N	0.825	L	1.88	T	-1.115	T	0.049	T	0.482	0.807	8.244	5.24	2.119	1.968	7.451	0.125	0.00793838058317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	0.04616	T	0.298	0.20877	T	0.073	0.57829	B	0.018	0.52336	B	0.111020	0.19418	N	0.432525	0.808681	0.29027	N	1.275	0.32135	L	1.88	0.23884	T	-1.08	0.28084	N	0.06	0.04790	-1.1151	0.02666	T	0.049	0.20711	T	10	0.089279175	0.15451	T	0.007938	0.21059	T	0.125	0.34456	0.482	0.56302	0.583271498735	0.57999	0.4353675914623222	0.43453	.	.	0.39610940218	0.24527	T	0.084218	0.37230	T	-0.146738	0.28825	T	-0.448556	0.27857	T	0.0803407551278317	0.10031	T	0.678032	0.28700	T	0.076330125	0.17254	0.08296396	0.18977	0.076330125	0.17254	0.08296396	0.18976	-4.467	0.31408	T	.	.	0.131	0.33596	B	.;.	.;.	1.641987	0.20957	14.99	0.97418837887845855	0.33865	0.94397	0.61035	D	AEFDGBI	0.358129	0.44891	N	-0.0981434917095693	0.37473	2.180651	0.0315914193963158	0.41189	2.470542	0.99542265638408	0.34119	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.24	5.24	0.72863	1.138000	0.31103	6.156000	0.54269	0.665000	0.62972	0.233000	0.24675	1.000000	0.68203	0.652000	0.32748	0.1398:0.0:0.1458:0.7143	7.451	0.26411	845	0.36510	Cysteine-rich flanking region, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	87.98	33	chr3	194359659	.	T	C	87.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.874e+00;DP=1665;ExcessHet=0.0000;FS=206.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=1.87;SOR=8.189	GT:AD:DP:GQ:PL	0/1:210,59:269:99:102,0,4791	20	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L	.	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	.	.	1.000	N	0	N	3.15	T	-0.948	T	0.016	T	0.091	1.132	9.616	.	0.119	0.856	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	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	0.2812	1276.28	7	chr3	195725265	.	C	T	1276.28	.	AC=9;AF=0.281;AN=32;BaseQRankSum=2.03;DP=174;ExcessHet=0.2102;FS=9.661;InbreedingCoeff=0.1472;MLEAC=11;MLEAF=0.344;MQ=27.87;MQRankSum=0.329;QD=17.02;ReadPosRankSum=-4.050e-01;SOR=3.729	GT:AD:DP:GQ:PL	1/1:0,7:7:21:198,21,0	9	2	5	5
chr3	195733202	195733202	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon4:c.G2114A:p.R705H	.	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.73	P	0.144	B	0.606	N	0.997	N	0.625	N	2.72	T	-1.023	T	0.022	T	0.286	0.740	7.927	1.46	0.538	0.288	5.816	0.028	.	0.0013	0.000998403	0.0046	0.0011	0.0004	0	0.0165	0.0046	0.0049	0.0055	0.0020569	318	154602	rs140657826	0.0026	0.0026	0.0026	0.0026	0.0040	0.0025	0.0025	0.0036	0.0035	0.0005	0.0002	0.0002	7.882e-05	0.0142	0.0021	0.0022	0.0027	0.0040	0.0026	0.0027	0.0023	0.0030	0.0033	0.0024	0.0023	0.0025	0.0023	0.0007	0	6.532e-05	0.0003	0	0.0154	0	0.0028	0.0005	0.0033	0.173	0.22573	T	0.133	0.34359	T	0.73	0.42641	P	0.144	0.33818	B	0.606453	0.10908	N	0.774714	0.999986	0.22840	N	1.355	0.33814	L	2.69	0.17596	T	-1.25	0.43149	N	0.161	0.25130	-1.0228	0.22802	T	0.022	0.09421	T	10	0.004782319	0.00101	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.056067761531843605	0.05547	.	.	0.3369795084	0.15985	T	0.010568	0.21799	T	-0.565819	0.00234	T	-0.58568	0.14043	T	0.0124333312482588	0.00204	T	0.646635	0.25786	T	0.031904172	0.03116	0.03558535	0.02838	0.031904172	0.03116	0.03558535	0.02838	-7.262	0.55925	T	.	.	0.126	0.26825	B	.;.;.	.;.;.	1.723419	0.21940	15.41	0.96356972786076622	0.29537	0.03308	0.08369	N	AEFDBHIJ	0.044540	0.07179	N	-0.564749849478855	0.20023	1.052514	-0.630300346832089	0.18716	1.001062	0.13784193717457	0.17216	0.549168	0.22868	0	0.588015	0.36545	0	0.573078	0.19857	0	0.616125	0.45549	0	.	.	4.24	1.46	0.21769	0.578000	0.23476	-0.924000	0.06908	0.663000	0.56723	0.200000	0.24308	0.000000	0.08366	0.025000	0.12405	0.3335:0.0:0.6665:0.0	5.816	0.17756	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1144.98	35	chr3	195733202	.	G	A	1144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.742;DP=884;ExcessHet=0.0000;FS=3.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.12;ReadPosRankSum=-1.080e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/1:129,58:187:99:1159,0,3094	20	0	1	0
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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/2:334,0,181:515:99:.:.:6487,7184,21223,0,13858,13237	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/1:334,181,0:515:99:.:.:6487,0,13237,7184,13858,21223	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	0/2:334,0,181:515:99:.:.:6487,7184,21223,0,13858,13237	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	1/2:0,283,153:436:99:.:.:13675,6135,5290,8213,0,11588	0	7	0	8
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	0|2:303,0,81:384:99:0|1:195780182_A_C:1322,2234,14957,0,12723,12530:195780182	13	0	0	3
chr3	195781112	195781159	GAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10421_10468del:p.P3474_L3489del	.	.	437	1059	15	0	11	26	0.00703235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0008	0	0	0	0.0039	0.0083	0.0017	7.68e-05	2	26028	.	0.0031	0.0030	0.0031	0.0030	0.0035	0.0030	0.0029	0.0034	0.0034	0.0011	0.0007	4.82e-05	3.482e-05	0.0008	0.0009	0.0035	0.0032	0.0016	0.0052	0.0053	0.0058	0.0047	0.0078	0.0047	0.0044	0.0068	0.0065	0.0034	0	0.0022	0	0.0014	0.0009	0	0.0078	0.0036	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5897.3	484	chr3	195781111	.	TGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAG	T	5897.3	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.03;DP=8549;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.46;MQRankSum=-7.539e+00;QD=12.01;ReadPosRankSum=0.546;SOR=0.647	GT:AD:DP:GQ:PL	0/1:313,178:491:99:5911,0,12095	19	0	1	1
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:264,1,178:443:99:0|1:195781127_G_*:7497,6905,18001,0,10878,10409:195781127	6	0	13	1
chr3	195781157	195781246	CAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10334_10423del:p.S3445_V3475delinsI	.	.	423	1077	14	1	7	23	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0106	0	0	0.0015	0	0	0	0.0308	3.84e-05	1	26028	.	0.0007	0.0016	0.0004	0.0009	0.0108	0.0006	0.0006	0.0102	0.0100	0	0	0	2.997e-05	0	0.0005	4.8e-05	0.0007	0.0108	0.0007	0.0009	0.0003	0.0012	0.0217	0.0006	0.0006	0.0183	0.0170	8.556e-05	0	0	0	0	0	0	1.519e-05	0.0005	0.0217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5859.2	431	chr3	195781156	.	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	A,*	5859.2	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.334;DP=8293;ExcessHet=0.1072;FS=0.593;InbreedingCoeff=-0.0584;MLEAC=1,1;MLEAF=0.024,0.024;MQ=56.18;MQRankSum=2.96;QD=4.09;ReadPosRankSum=1.72;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:272,0,179:452:99:.:.:6228,7434,21381,0,11601,10650	19	0	1	0
chr3	195781156	195781246	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	0	exonic	MUC4	.	.	.	.	.	423	1077	14	1	7	23	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5859.2	431	chr3	195781156	.	ACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGTGC	A,*	5859.2	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.334;DP=8293;ExcessHet=0.1072;FS=0.593;InbreedingCoeff=-0.0584;MLEAC=1,1;MLEAF=0.024,0.024;MQ=56.18;MQRankSum=2.96;QD=4.09;ReadPosRankSum=1.72;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:272,0,179:452:99:.:.:6228,7434,21381,0,11601,10650	19	0	1	0
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	0/1:242,256,0:498:99:.:.:6032,0,6311,7259,7477,17256	10	2	5	3
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:155,0,200,0:357:99:.:.:8429,8367,17995,0,6734,5713,8367,17995,6734,17995	5	0	7	6
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	0/1:243,221,0:464:99:.:.:5452,0,7853,6426,8734,16855	0	3	3	1
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	0/2:318,0,207:525:99:.:.:7129,8100,20857,0,12757,12113	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	0/2:318,0,207:525:99:.:.:7129,8100,20857,0,12757,12113	11	0	1	4
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	89047.24	581	chr3	195782949	.	A	G,*	89047.24	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=0.195;DP=11733;ExcessHet=5.3821;FS=0.000;InbreedingCoeff=0.0111;MLEAC=20,2;MLEAF=1.00,0.111;MQ=56.70;MQRankSum=-8.626e+00;QD=21.07;ReadPosRankSum=0.379;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:207,145,0:358:99:.:.:4973,0,6439,5192,6245,11587	0	2	6	12
chr3	195783308	195783308	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8272G:p.T2758A,	.	.	428	1075	2	1	16	20	0.00185701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.001	B	.	.	1.000	N	0	N	1.58	T	-1.014	T	0.028	T	0.048	0.284	5.535	-1.37	-1.634	-0.220	2.229	0.010	0.00116770125284	.	.	0.0005	0.0024	0.0023	0	0	0.0004	0	0.0004	3.84e-05	1	26028	rs1219089535	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	6.351e-05	0.0001	0.0002	4.578e-05	0.0003	0.0002	0.0002	4.172e-05	0.0004	0.0023	0.0003	0.0005	0.0008	0.0003	0.0002	0.0005	0.0004	0.0008	0	0.0004	0	0.0004	0	0.0104	0.0003	0	0	0.329	0.13175	T	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-0.18	0.13418	N	0.013	0.00142	-1.0140	0.25656	T	0.028	0.12014	T	8	0.012935221	0.00276	T	0.001168	0.01484	T	0.010	0.01040	.	.	0.0138822411134	0.00435	2.5889544791019455E-5	0.00002	.	.	0.527253031731	0.42647	T	.	.	.	-0.42796	0.01525	T	-0.852512	0.00928	T	0.0107283737386794	0.00151	T	0.375462	0.08961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02829	B	.;.	.;.	0.203188	0.05879	2.317	0.6578800018455504	0.07872	0.00109	0.00694	N	AEFBI	0.039047	0.05616	N	-1.84724035622617	0.00440	0.01890782	-1.9207615658682	0.00445	0.01969931	1.52227916298095E-4	0.05650	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.37	0.08582	-5.463000	0.00144	-6.340000	0.01426	-1.678000	0.00790	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2384:0.3308:0.0:0.4308	2.229	0.03747	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	48.52	349	chr3	195783308	.	T	C	48.52	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.041e+00;DP=4459;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.025;MQ=57.13;MQRankSum=-8.664e+00;QD=0.36;ReadPosRankSum=0.929;SOR=0.803	GT:AD:DP:GQ:PL	0/1:125,11:138:62:62,0,5481	19	0	1	1
chr3	195783319	195783319	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8261T:p.P2754L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.002	B	.	.	1.000	N	0.55	N	1.52	T	-1.004	T	0.036	T	0.042	0.147	4.788	.	0.073	0.391	3.251	0.007	0.00248915785875	.	.	5.116e-05	0.0007	0	0	0	0	0	0	0.0001537	4	26028	rs377218971	3.941e-05	0.0003	3.813e-05	4.072e-05	0.0003	3.046e-05	2.754e-05	0.0002	0.0001	6.959e-05	0.0003	8.772e-05	3.298e-05	4.486e-05	0.0003	2.789e-05	7.567e-05	1.341e-05	8.02e-05	0.0008	6.954e-05	9.141e-05	9.672e-05	4.165e-05	3.124e-05	3.779e-05	2.449e-05	6.957e-05	0	9.111e-05	0	0	0.0001	0	9.672e-05	0	0	0.01	0.56456	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.31731	T	0.03	0.13226	N	0.036	0.07673	-1.0044	0.28636	T	0.036	0.15683	T	7	0.03291303	0.01453	T	0.002489	0.04953	T	0.007	0.00512	.	.	0.0954503805726	0.09146	2.5352474446950437E-5	0.00002	.	.	0.540446281433	0.44508	T	.	.	.	-0.349383	0.04766	T	-0.739641	0.03906	T	0.0293901517083702	0.01897	T	0.756024	0.37907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22464	B	.;.	.;.	1.984700	0.25217	16.68	0.68429454157064806	0.08656	0.00354	0.01821	N	AEFBI	0.057268	0.10653	N	-1.23382303094891	0.04517	0.2040384	-1.34455204611901	0.03870	0.1814309	1.44252550070371E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.275000	0.18461	1.159000	0.24539	0.133000	0.17659	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.3592:0.0:0.6408:0.0	3.251	0.06413	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	0.075	1408.99	349	chr3	195783319	.	GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	G,AGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	1408.99	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=2.84;DP=4474;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4738;MLEAC=2,1;MLEAF=0.050,0.025;MQ=53.04;MQRankSum=-1.680e+00;QD=29.35;ReadPosRankSum=1.74;SOR=1.421	GT:AD:DP:GQ:PL	0/2:3,0,11:14:64:68,64,192,0,116,5376	18	1	0	1
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2018.88	349	chr3	195783321	.	A	C,*	2018.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-6.330e-01;DP=4536;ExcessHet=0.0090;FS=0.891;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=56.98;MQRankSum=1.48;QD=4.67;ReadPosRankSum=-7.920e-01;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:3,0,0:14:4:.:.:4,383,5387,0,498,128	10	0	1	8
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	2117.88	340	chr3	195783323	.	G	C,*	2117.88	.	AC=1,3;AF=0.038,0.115;AN=26;BaseQRankSum=-4.523e+00;DP=4466;ExcessHet=0.0090;FS=0.000;InbreedingCoeff=0.1362;MLEAC=1,3;MLEAF=0.038,0.115;MQ=57.00;MQRankSum=1.65;QD=4.87;ReadPosRankSum=0.527;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:3,0,0:14:4:.:.:4,383,5387,0,498,128	10	0	1	8
chr3	195783326	195783470	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	0	exonic	MUC4	.	.	.	.	.	434	1017	25	28	18	99	0.0382979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1673.38	262	chr3	195783326	.	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	G,*	1673.38	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.756;DP=3915;ExcessHet=0.0082;FS=28.612;InbreedingCoeff=0.3997;MLEAC=1,3;MLEAF=0.024,0.071;MQ=54.54;MQRankSum=1.49;QD=8.16;ReadPosRankSum=4.44;SOR=2.081	GT:AD:DP:GQ:PL	0/2:16,0,0:16:99:783,140,2021,0,527,412	18	0	1	0
chr3	195783327	195783327	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	108.87	262	chr3	195783327	.	G	*,A	108.87	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=0.136;DP=3801;ExcessHet=0.0000;FS=25.966;InbreedingCoeff=0.6901;MLEAC=4,1;MLEAF=0.100,0.025;MQ=54.18;MQRankSum=2.52;QD=0.43;ReadPosRankSum=1.79;SOR=1.790	GT:AD:DP:GQ:PL	1/2:6,36,9:51:99:928,125,134,797,0,3314	17	1	1	1
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	240.71	262	chr3	195783332	.	T	*,C	240.71	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-1.199e+00;DP=3639;ExcessHet=0.0000;FS=34.661;InbreedingCoeff=0.6077;MLEAC=5,1;MLEAF=0.139,0.028;MQ=52.86;MQRankSum=0.066;QD=0.96;ReadPosRankSum=-1.151e+00;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,36,11:47:99:0|1:195783332_T_*:2508,353,243,982,0,1625:195783332	15	1	1	3
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	159.71	262	chr3	195783335	.	C	G,*	159.71	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=0.00;DP=3593;ExcessHet=0.0000;FS=18.458;InbreedingCoeff=0.6077;MLEAC=1,5;MLEAF=0.028,0.139;MQ=52.45;MQRankSum=1.21;QD=0.49;ReadPosRankSum=1.07;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,11,36:47:99:0|1:195783332_T_*:2690,997,1557,364,0,162:195783332	15	0	0	3
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	13623.42	256	chr3	195783346	.	A	*,G	13623.42	.	AC=4,7;AF=0.286,0.500;AN=14;BaseQRankSum=1.28;DP=3337;ExcessHet=1.1394;FS=1.217;InbreedingCoeff=0.2429;MLEAC=9,15;MLEAF=0.643,1.00;MQ=53.18;MQRankSum=1.23;QD=15.80;ReadPosRankSum=1.52;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,36,0:44:99:0|1:195783346_A_*:788,0,99,1038,339,3674:195783346	0	1	1	14
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9429.56	210	chr3	195783357	.	C	G,*	9429.56	.	AC=5,4;AF=0.357,0.286;AN=14;BaseQRankSum=-3.000e-03;DP=3094;ExcessHet=0.0000;FS=5.746;InbreedingCoeff=0.3636;MLEAC=10,8;MLEAF=0.714,0.571;MQ=49.14;MQRankSum=1.46;QD=23.75;ReadPosRankSum=-1.441e+00;SOR=1.550	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,36:36:99:.:.:3450,1173,1080,244,133,0	2	2	1	14
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6902.99	178	chr3	195783367	.	A	G,*	6902.99	.	AC=5,2;AF=0.357,0.143;AN=14;BaseQRankSum=1.84;DP=2929;ExcessHet=0.0000;FS=11.888;InbreedingCoeff=0.3056;MLEAC=10,4;MLEAF=0.714,0.286;MQ=46.46;MQRankSum=1.24;QD=30.54;ReadPosRankSum=1.51;SOR=1.789	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,36:36:99:.:.:3450,1173,1080,244,133,0	3	2	1	14
chr3	195783855	195783902	GGTGGCGTGACCTGTGGATGCTGCGGAAGTGTCGGTGACAGGAAGAGA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7678_7725del:p.S2560_T2575del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0031	0.0330	0	0	0.0006	0.0003	0.0042	0	3.84e-05	1	26028	rs763999230	4.332e-05	8.04e-05	5.219e-05	3.421e-05	0.0015	3.411e-05	3.123e-05	0.0012	0.0011	0.0015	5.88e-05	0	5.86e-05	0	0	4.747e-06	7.095e-05	0	0.0003	0.0017	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0004	0	0	0	0	4.467e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	5427.29	398	chr3	195783854	.	GGGTGGCGTGACCTGTGGATGCTGCGGAAGTGTCGGTGACAGGAAGAGA	G	5427.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.90;DP=8369;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=49.93;MQRankSum=-6.836e+00;QD=27.41;ReadPosRankSum=0.340;SOR=0.747	GT:AD:DP:GQ:PL	0/1:56,142:198:99:5441,0,1401	19	0	1	1
chr3	195783860	195783860	C	0	exonic	MUC4	.	.	.	.	.	448	1004	55	12	3	82	0.0378534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	7916.98	398	chr3	195783860	.	C	T,*	7916.98	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=2.35;DP=8280;ExcessHet=0.0000;FS=1.126;InbreedingCoeff=0.6396;MLEAC=2,1;MLEAF=0.050,0.025;MQ=54.70;MQRankSum=5.03;QD=19.79;ReadPosRankSum=0.856;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:56,0,142:198:99:.:.:5441,5608,7453,0,1845,1401	18	1	0	1
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:56,0,142:198:99:.:.:5441,5608,7453,0,1845,1401	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:56,0,142:198:99:.:.:5441,5608,7453,0,1845,1401	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:56,0,0,142,0:198:99:.:.:5441,5608,7453,5608,7453,7453,0,1845,1845,1401,5608,7453,7453,1845,7453	1	1	9	3
chr3	195783889	195783889	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6244.38	434	chr3	195783889	.	G	*,GT	6244.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-9.770e-01;DP=9025;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=55.94;MQRankSum=3.33;QD=8.45;ReadPosRankSum=2.72;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,142,0:198:99:.:.:5441,0,1401,5608,1845,7453	18	0	1	1
chr3	195783889	195783889	-	T	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7690dupA:p.T2564Nfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0.0017	0.0001	0	0	3.88e-05	6	154602	rs775414158	0.0001	0.0002	0.0001	0.0001	0.0016	0.0001	0.0001	0.0012	0.0011	0	2.937e-05	0	0.0016	0.0010	0.0005	6.342e-05	0.0002	0.0002	0.0001	0.0001	6.709e-05	0.0002	8.849e-05	6.771e-05	5.533e-05	3.772e-05	2.582e-05	0	0	0	0	0	0.0009	0	8.849e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6244.38	434	chr3	195783889	.	G	*,GT	6244.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=-9.770e-01;DP=9025;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0526;MLEAC=1,1;MLEAF=0.025,0.025;MQ=55.94;MQRankSum=3.33;QD=8.45;ReadPosRankSum=2.72;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,142,0:198:99:.:.:5441,0,1401,5608,1845,7453	18	0	1	1
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:56,0,142:198:99:.:.:5441,5608,7453,0,1845,1401	4	0	14	2
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL	.	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9982.69	409	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA,*	9982.69	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=-2.121e+00;DP=9293;ExcessHet=0.3476;FS=2.026;InbreedingCoeff=-0.0959;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.57;MQRankSum=-7.121e+00;QD=9.97;ReadPosRankSum=-6.922e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/2:56,0,142:198:99:5441,5608,7453,0,1845,1401	16	0	2	2
chr3	195783896	195783896	G	0	exonic	MUC4	.	.	.	.	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9982.69	409	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA,*	9982.69	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=-2.121e+00;DP=9293;ExcessHet=0.3476;FS=2.026;InbreedingCoeff=-0.0959;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.57;MQRankSum=-7.121e+00;QD=9.97;ReadPosRankSum=-6.922e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/2:56,0,142:198:99:5441,5608,7453,0,1845,1401	16	0	2	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:56,0,142:198:99:.:.:5441,5608,7453,0,1845,1401	2	0	15	3
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	59833.56	472	chr3	195784574	.	GC	G,*	59833.56	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=2.18;DP=11527;ExcessHet=0.0454;FS=2.301;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.15;MQRankSum=1.54;QD=17.87;ReadPosRankSum=2.75;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,556,0:855:99:0|1:195784574_GC_G:16834,0,10166,17733,11812,29545:195784574	16	0	3	1
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	77.83	457	chr3	195784575	.	C	G,*	77.83	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.15;DP=11392;ExcessHet=0.0295;FS=1.452;InbreedingCoeff=0.1763;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.55;MQRankSum=8.88;QD=0.03;ReadPosRankSum=5.23;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:299,0,556:855:99:0|1:195784574_GC_G:16834,17733,29545,0,11812,10166:195784574	3	1	0	13
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	57691.6	410	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	G,*	57691.6	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=7.19;DP=12602;ExcessHet=0.0454;FS=0.560;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.89;MQRankSum=1.55;QD=14.10;ReadPosRankSum=3.14;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:590,560,0:1150:99:0|1:195784574_GC_G:15967,0,19172,17739,20822,38562:195784574	16	0	3	1
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.44	410	chr3	195784580	.	T	C,*	71.44	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12589;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3872;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:590,0,560:1150:99:0|1:195784574_GC_G:15967,17739,38562,0,20822,19172:195784574	13	1	0	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.59	410	chr3	195784583	.	C	G,*	71.59	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12544;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3654;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:590,0,560:1150:99:0|1:195784574_GC_G:15967,17739,38562,0,20822,19172:195784574	13	1	0	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:314,0,552:869:99:1|0:195784574_GC_G:16735,18250,32140,0,12909,10955:195784574	2	3	8	4
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27	.	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2900.14	742	chr3	195785314	.	A	AC	2900.14	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.27;DP=14707;ExcessHet=0.1072;FS=5.464;InbreedingCoeff=-0.1062;MLEAC=2;MLEAF=0.059;MQ=57.83;MQRankSum=-1.068e+00;QD=2.36;ReadPosRankSum=-2.790e-01;SOR=1.313	GT:AD:DP:GQ:PL	0/1:497,89:586:99:2027,0,19976	15	0	2	4
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	1/2:0,463,89:554:99:.:.:22126,3919,2029,15566,0,19973	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	0/1:268,208,0:476:99:.:.:7595,0,10437,8488,11125,20041	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|1:264,193,0:457:99:0|1:195785371_G_A:7153,0,10429,7947,11010,18957:195785371	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|1:262,192,0:454:99:0|1:195785371_G_A:7137,0,10388,7925,10966,18892:195785371	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	0/1:176,259,0:435:99:.:.:6607,0,6614,7137,7390,14527	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|2:284,0,135:419:99:0|1:195785371_G_A:4814,5669,17589,0,11920,11514:195785371	11	0	1	4
chr3	195785437	195785437	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6143A:p.P2048H	.	.	447	1069	0	2	4	8	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	B	0.003	B	.	.	1.000	N	0	N	1.47	T	-1.006	T	0.030	T	0.078	-0.151	3.261	.	0.488	-0.267	.	0.019	0.00201068428208	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781754499	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.429e-05	0	8.323e-05	0	0.0023	0	0.0001	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	2.519e-05	0	0	0	0	0.0010	0	0.0003	0	0.0002	0.0	0.91255	D	0.107	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.31987	T	-0.2	0.10136	N	0.107	0.09207	-1.0058	0.28216	T	0.030	0.12848	T	6	0.055903792	0.06182	T	0.002011	0.03642	T	0.019	0.03383	.	.	0.0138822411134	0.00435	1.2924115843814766E-4	0.00011	.	.	0.52127122879	0.41805	T	.	.	.	-0.277298	0.10956	T	-0.636096	0.09957	T	0.0474089427526406	0.05038	T	0.548745	0.18852	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25785	B	.;.	.;.	1.440292	0.18595	13.82	0.88505193980125174	0.18029	0.01029	0.03860	N	AEFBCI	0.051259	0.09038	N	-1.24720308106973	0.04336	0.1955305	-1.35179852953206	0.03785	0.1772574	1.17531293679699E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.408000	0.34277	1.170000	0.24618	0.061000	0.17545	0.007000	0.17678	0.001000	0.17328	0.023000	0.12082	.	.	.	604	0.67577	.;.	.	.	.	.	.	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	0.03125	3407.04	800	chr3	195785437	.	G	T	3407.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.54;DP=12522;ExcessHet=0.0000;FS=0.419;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=56.41;MQRankSum=-6.271e+00;QD=8.85;ReadPosRankSum=-6.373e+00;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,102:385:99:0|1:195785371_G_A:3419,0,11589:195785371	15	0	1	5
chr3	195785443	195785443	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A6137C:p.D2046A	.	.	450	1058	12	1	1	15	0.00657277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.0	B	.	.	1.000	N	0	N	1.54	T	-1.020	T	0.025	T	0.125	0.288	5.558	.	-2.142	-2.267	.	0.015	0.003604254882	.	.	0.0012	0.0017	0	0	0.0023	0.0012	0	0.0009	0.0002393	37	154602	rs202129397	0.0003	0.0008	0.0003	0.0003	0.0008	0.0003	0.0003	0.0007	0.0006	0.0006	0	0.0003	0.0002	0.0024	0.0003	0.0002	0.0004	0.0008	0.0015	0.0030	0.0015	0.0016	0.0023	0.0014	0.0013	0.0017	0.0015	0.0021	0	0.0006	0.0007	0.0018	0.0017	0.0081	0.0014	0.0013	0.0023	0.318	0.13654	T	0.091	0.40426	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.53	0.30401	T	-0.2	0.10136	N	0.063	0.03502	-1.0198	0.23780	T	0.025	0.10509	T	6	0.007986397	0.00181	T	0.003604	0.08247	T	0.015	0.02232	.	.	0.0138822411134	0.00435	1.8720344249421197E-4	0.00016	.	.	0.493286401033	0.37895	T	.	.	.	-0.334697	0.05763	T	-0.718545	0.04867	T	0.00152941396766075	0.00015	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00229	B	.;.	.;.	0.397842	0.07692	4.366	0.94009402321113822	0.24110	0.00248	0.01370	N	AEFBCI	0.018914	0.00612	N	-2.0308230204244	0.00181	0.007772685	-2.11456447948871	0.00173	0.007623546	1.15454920013229E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.621000	0.05655	-5.708000	0.01623	-2.415000	0.00290	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	604	0.67577	.;.	.	.	.	.	.	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	0.03125	3566.04	800	chr3	195785443	.	T	G	3566.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=6.24;DP=12514;ExcessHet=0.0000;FS=2.463;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=56.72;MQRankSum=-4.961e+00;QD=9.46;ReadPosRankSum=-5.003e+00;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,105:377:99:0|1:195785371_G_A:3578,0,11118:195785371	15	0	1	5
chr3	195785445	195785445	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G6135C:p.Q2045H	.	.	476	1040	4	1	1	7	0.00287632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	B	0.003	B	.	.	1.000	N	0	N	1.29	T	-1.042	T	0.028	T	0.102	-0.781	0.728	.	-2.075	-2.609	.	0.019	0.00230392183033	.	.	0.0001	0	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs778025830	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.49e-05	0	8.501e-05	2.92e-05	0.0023	0	0.0001	0.0003	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0.0011	0	0.0003	0	0.0002	0.166	0.23183	T	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.29	0.37578	T	-0.27	0.11366	N	0.053	0.04668	-1.0418	0.16770	T	0.028	0.11971	T	6	0.025753945	0.00760	T	0.002304	0.04424	T	0.019	0.03383	0.186	0.09517	0.0138822411134	0.00435	2.668964189333766E-4	0.00023	.	.	0.553018987179	0.46284	T	.	.	.	-0.329979	0.06113	T	-0.711769	0.05204	T	0.0250923404852311	0.01285	T	0.618838	0.23746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21503	B	.;.	.;.	-0.175811	0.03215	0.536	0.271917780216337	0.01338	0.00112	0.00708	N	AEFBCI	0.022193	0.01079	N	-1.97504517995062	0.00239	0.01025281	-2.07382485738277	0.00212	0.00935824	4.04866484404787E-4	0.06860	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-5.284000	0.00160	-3.091000	0.03069	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	604	0.67577	.;.	.	.	.	.	.	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	0.03125	3475.04	800	chr3	195785445	.	C	G	3475.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.04;DP=12502;ExcessHet=0.0000;FS=3.097;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=57.37;MQRankSum=-4.193e+00;QD=9.14;ReadPosRankSum=-4.270e+00;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,104:380:99:0|1:195785371_G_A:3487,0,11163:195785371	15	0	1	5
chr3	196661697	196661697	G	A	exonic	NRROS	.	nonsynonymous SNV	NRROS:NM_198565:exon3:c.G2054A:p.R685H,	.	.	.	.	.	.	.	.	.	.	.	2207482	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.959	D	0.000	D	1.000	D	2.075	M	0.75	T	-0.518	T	0.302	T	0.846	4.002	20.5	5.66	2.831	4.805	20.122	0.271	0.0158104583267	7.7e-05	0.000399361	0.0001	0.0003	0.0004	0	0	7.913e-05	0	6.777e-05	0.0001811	28	154602	rs140011218	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0013	0.0012	5.993e-05	0.0016	0	2.533e-05	0	0	0.0001	0.0002	3.486e-05	0.0004	0.0004	0.0003	0.0005	0.0030	0.0003	0.0003	0.0023	0.0021	0.0002	0	0.0030	0	0	0	0	5.882e-05	0.0005	0.0002	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.959	0.70163	D	0.000006	0.62929	D	0.061993	0.99898	0.45816	D	.	.	.	0.75	0.50192	T	-2.1	0.47852	N	0.484	0.51851	-0.5185	0.67970	T	0.302	0.67288	T	10	0.07957786	0.12817	T	0.01581	0.36746	T	0.271	0.58633	.	.	0.608796909167	0.60565	0.34433850601847915	0.34347	1.30130239228	0.83020	0.343048930168	0.16894	T	0.167085	0.51357	T	-0.10278	0.35965	T	0.0442085	0.73203	D	0.0734686255455017	0.09130	T	0.865313	0.56401	D	0.23873466	0.46754	0.15032052	0.35457	0.23873466	0.46754	0.15032052	0.35456	-5.268	0.39625	T	.	.	0.113	0.22245	B	.	.	5.119734	0.85627	28.7	0.99950587712921812	0.99944	0.85688	0.44848	D	AEFDGBHCI	0.739819	0.68425	D	0.773829300032457	0.84445	8.289929	0.765546607943791	0.87312	9.179408	0.999999999999804	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.67347	0.61138	0	0.699875	0.68795	0	.	.	5.66	5.66	0.87293	5.431000	0.66245	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	20.122	0.97967	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	0.02381	905.98	39	chr3	196661697	.	G	A	905.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=764;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=0.846;SOR=0.828	GT:AD:DP:GQ:PL	0/1:27,38:65:99:920,0,561	20	0	1	0
chr4	442975	442975	C	T	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.G1492A:p.E498K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.902	P	0.254	B	.	.	1.000	D	1.145	L	1.86	T	-0.990	T	0.039	T	0.229	3.027	16.10	0.71	0.677	0.577	7.268	0.025	0.00194310787568	7.9e-05	.	2.485e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs199837561	3.353e-05	3.352e-05	3.54e-05	3.163e-05	4.317e-05	2.566e-05	2.312e-05	3.343e-05	2.956e-05	0	0	0	0	0	0	4.317e-05	1.656e-05	0	4.603e-05	4.598e-05	5.142e-05	4.039e-05	7.351e-05	2.111e-05	1.528e-05	2.847e-05	1.858e-05	2.416e-05	0	6.551e-05	0	0	0	0	7.351e-05	0	0	0.033	0.52492	D	0.019	0.67890	D	0.902	0.49745	P	0.226	0.38054	B	.	.	.	.	0.841829	0.81001	D	1.64	0.41913	L	1.86	0.24285	T	-3.31	0.65972	D	0.217	0.32812	-0.9897	0.32677	T	0.039	0.16849	T	9	0.099103004	0.17963	T	0.001943	0.03456	T	0.025	0.05312	.	.	0.0954503805726	0.09146	0.026854729054483804	0.02635	0.0956328157147	0.10801	0.331679582596	0.15189	T	0.071035	0.34108	T	-0.276592	0.11032	T	-0.527425	0.19545	T	0.698785006999969	0.40661	D	0.253675	0.05202	T	0.07479271	0.16809	0.09369634	0.22143	0.07479271	0.16809	0.09369634	0.22143	-8.04	0.61343	D	.	.	0.208	0.44319	B	.;.	.;.	1.440796	0.18602	13.83	0.99766270097812904	0.85500	0.00001	0.00044	N	AEFGBHCI	0.064894	0.12628	N	-0.706321666963897	0.15843	0.8020834	-0.904934590799817	0.11977	0.6134689	0.962363262649852	0.28618	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	0.71	0.17313	0.682000	0.25015	.	.	-0.663000	0.04345	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.9999:0.0:1.0E-4	7.268	0.25416	912	0.21483	Zinc finger C2H2-type;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2026.98	105	chr4	442975	.	C	T	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=959;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.927;QD=11.99;ReadPosRankSum=-4.340e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:92,77:169:99:2041,0,2177	20	0	1	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:78,9,0:87:43:43,0,2512,277,2539,2816	12	0	8	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G	Recombination rate QTL 1	.	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.13	B	0.05	B	.	.	1.000	N	1.1	L	0.79	T	-1.023	T	0.076	T	0.031	0.011	4.069	1.28	0.113	0.404	3.029	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	1261.11	33	chr4	1081428	.	G	C	1261.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.620;DP=751;ExcessHet=0.1072;FS=1.860;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.67;SOR=0.493	GT:AD:DP:GQ:PL	0/1:29,22:51:99:552,0,874	19	0	2	0
chr4	1841697	1841697	T	C	exonic	LETM1	.	nonsynonymous SNV	LETM1:NM_012318:exon3:c.A244G:p.I82V,	.	.	417	1073	30	2	0	34	0.0155963	.	.	720866	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.068	N	1.000	N	-0.55	N	.	.	-1.028	T	0.015	T	0.028	-0.918	0.401	-9.21	-1.907	-0.730	0.331	0.032	.	0.0028	0.00958466	0.0072	0.0002	0.0027	0.0001	0.0005	0.0037	0.01	0.0351	0.0065135	1007	154602	rs61759826	0.0047	0.0047	0.0037	0.0056	0.0344	0.0046	0.0045	0.0333	0.0329	0.0004	0.0037	0.0191	2.519e-05	0.0002	0.0097	0.0025	0.0055	0.0344	0.0034	0.0034	0.0033	0.0036	0.0269	0.0032	0.0031	0.0232	0.0217	0.0005	0.0011	0.0046	0.0219	0.0002	0.0004	0.0170	0.0030	0.0052	0.0269	0.529	0.07048	T	0.719	0.05363	T	0.0	0.02946	B	0.0	0.01387	B	0.068130	0.02219	N	1.895890	1	0.08975	N	0	0.06538	N	.	.	.	0.1	0.05810	N	0.129	0.12341	-1.0283	0.21005	T	0.015	0.05897	T	9	0.0027911067	0.00044	T	.	.	.	0.032	0.07718	.	.	0.128392430309	0.12331	0.14344038944705798	0.14267	0.344413011726	0.36371	0.312982559204	0.12358	T	0.001278	0.00758	T	-0.731799	0.00023	T	-0.798192	0.01948	T	0.00574088410594277	0.00063	T	0.152285	0.01295	T	0.01566273	0.00150	0.018345192	0.00053	0.011207705	0.00014	0.018345192	0.00053	-1.792	0.02485	T	.	.	0.059	0.00834	B	.	.	-1.964256	0.00110	0.002	0.22841734596420277	0.00938	0.02851	0.07609	N	AEFDBI	0.028796	0.02603	N	-1.79425779469062	0.00559	0.02409108	-1.86422658997944	0.00575	0.02551325	0.999999960001115	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.61	-9.21	0.00578	-1.176000	0.03209	-6.055000	0.01510	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2198:0.2521:0.2046:0.3235	0.331	0.00296	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3039.11	41	chr4	1841697	.	T	C	3039.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=989;ExcessHet=0.1072;FS=0.912;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=1.48;SOR=0.617	GT:AD:DP:GQ:PL	0/1:78,57:135:99:1317,0,1862	19	0	2	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.076	16.27	5.94	2.820	8.776	19.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	531.26	142	chr4	2662992	.	G	C	531.26	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.826e+00;DP=2064;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.827;SOR=11.598	GT:AD:DP:GQ:PL	0/1:100,35:135:99:128,0,1855	11	0	6	4
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	5/6:0,2,0,0,0,16,16:34:99:.:.:1664,1195,1125,1284,1134,1222,1284,1134,1222,1222,1284,1134,1222,1222,1222,573,483,555,555,555,457,560,418,505,505,505,0,450	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	5/6:0,2,0,0,0,16,16:34:99:.:.:1664,1195,1125,1284,1134,1222,1284,1134,1222,1222,1284,1134,1222,1222,1222,573,483,555,555,555,457,560,418,505,505,505,0,450	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	5/6:0,2,0,0,0,16,16:34:99:.:.:1664,1195,1125,1284,1134,1222,1284,1134,1222,1222,1284,1134,1222,1222,1222,573,483,555,555,555,457,560,418,505,505,505,0,450	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	5/6:0,2,0,0,0,16,16:34:99:.:.:1664,1195,1125,1284,1134,1222,1284,1134,1222,1222,1284,1134,1222,1222,1222,573,483,555,555,555,457,560,418,505,505,505,0,450	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	5/6:0,2,0,0,0,16,16:34:99:.:.:1664,1195,1125,1284,1134,1222,1284,1134,1222,1222,1284,1134,1222,1222,1222,573,483,555,555,555,457,560,418,505,505,505,0,450	3	1	1	0
chr4	5988873	5988873	G	A	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.C2636T:p.T879I	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	.	.	.	.	.	.	1.000	N	.	.	1.82	T	-0.998	T	0.048	T	0.02	1.525	11.05	-1.65	-0.478	-0.329	5.561	0.008	0.0173933740653	.	0.00139776	0.0002	0.0018	0	0	0	0	0	0.0001	5.82e-05	9	154602	rs537830288	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0010	0	0	0	0.0012	4.449e-05	0.0005	6.311e-05	0.0011	0.0011	0.0011	0.0011	0.0037	0.0010	0.0009	0.0033	0.0031	0.0037	0	0.0005	0	0	0	0.0034	5.88e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9984	0.30367	T	0.048	0.20474	T	6	0.008507282	0.00193	T	0.017393	0.39069	T	0.008	0.00669	.	.	0.0806252709748	0.07271	0.018592989722704522	0.01813	0.0259154320765	0.02646	.	.	.	.	.	.	-0.732093	0.00023	T	-0.824898	0.01356	T	0.00312078845783918	0.00033	T	0.342666	0.07446	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31355	B	.	.	0.294555	0.06705	3.213	0.94789219642571254	0.25527	0.03373	0.08472	N	AEFDBI	.	.	.	-0.962138520602753	0.09421	0.4458361	-1.11284842759607	0.07454	0.3626402	1.76118036808667E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.47	-1.65	0.07849	-0.302000	0.08259	-0.701000	0.07794	-0.740000	0.03671	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.312:0.3923:0.2957:0.0	5.561	0.16429	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1959.98	187	chr4	5988873	.	G	A	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=3386;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=-6.880e-01;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,81:196:99:0|1:5988872_T_C:1974,0,2873:5988872	20	0	1	0
chr4	6594610	6594611	AT	-	exonic	MAN2B2	.	frameshift deletion	MAN2B2:NM_015274:exon7:c.935_936del:p.H312Rfs*109,	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0	0	0	0	0	0.0013	0.0001552	24	154602	rs556252784	8.828e-05	8.825e-05	2.996e-05	0.0001	0.0014	7.557e-05	7.104e-05	0.0012	0.0011	0	0	0	0	0	0	0	9.937e-05	0.0014	4.595e-05	4.593e-05	1.285e-05	8.054e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2102.94	35	chr4	6594609	.	CAT	C	2102.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.349e+00;DP=841;ExcessHet=0.0000;FS=0.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.69;ReadPosRankSum=-7.700e-01;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,56:134:99:0|1:6594609_CAT_C:2117,0,3092:6594609	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	0/1:105,54:159:99:592,0,2328	0	0	21	0
chr4	8214523	8214532	GTGGTGACGT	-	exonic	SH3TC1	.	frameshift deletion	SH3TC1:NM_001318480:exon5:c.196_205del:p.V66Lfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1205.94	34	chr4	8214522	.	CGTGGTGACGT	C	1205.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=831;ExcessHet=0.0000;FS=1.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=-7.580e-01;SOR=0.927	GT:AD:DP:GQ:PL	0/1:94,36:130:99:1220,0,3838	20	0	1	0
chr4	8214523	8214523	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon5:c.G196A:p.V66M	.	.	429	1090	3	0	0	3	0.00137426	.	.	3318184	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.757	P	0.054	N	1.000	N	1.445	L	-1.18	T	-0.593	T	0.393	T	0.336	3.466	17.75	2.52	0.425	0.728	5.239	0.281	0.0237374566327	7.7e-05	.	7.426e-05	0	0	0	0	0.0001	0	6.058e-05	8.41e-05	13	154602	rs200132766	8.688e-05	8.687e-05	7.896e-05	9.489e-05	0.0047	7.421e-05	6.97e-05	0.0033	0.0028	0.0003	0.0003	0	0	0	0.0047	5.756e-05	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	2.406e-05	0	0.0010	0	0	0	0	7.351e-05	0.0014	0.0004	0.017	0.51248	D	0.033	0.53072	D	0.99	0.63424	D	0.757	0.56292	P	0.053720	0.22785	N	0.371121	0.991322	0.24050	N	2.34	0.67151	M	-1.22	0.78752	T	-1.24	0.31778	N	0.403	0.44379	-0.5926	0.65117	T	0.393	0.74685	T	10	0.13891798	0.26417	T	0.023737	0.46713	T	0.281	0.59861	.	.	0.637288232684	0.63431	0.26691754370024334	0.26604	0.0512075118454	0.05634	0.715992033482	0.69463	T	0.065852	0.32796	T	-0.21003	0.19374	T	-0.237748	0.51019	T	0.0863715158960548	0.10782	T	0.805419	0.45334	T	0.0729317	0.16260	0.079522744	0.17908	0.0729317	0.16260	0.079522744	0.17908	-8.515	0.64528	D	.	.	0.098	0.23848	B	.;.	.;.	2.912210	0.38636	20.8	0.99873951637034364	0.95160	0.38362	0.25971	N	AEFGBCI	0.082931	0.16796	N	0.116318572554302	0.47225	2.951119	0.0428579711456983	0.41729	2.511808	0.995610432670052	0.34224	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.32	2.52	0.29514	0.377000	0.20282	0.386000	0.17834	0.672000	0.70159	0.218000	0.24513	0.016000	0.20520	0.995000	0.73285	0.1899:0.1717:0.6384:0.0	5.239	0.14782	994	0.00715	.;.	.	.	.	.	.	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	1301.06	34	chr4	8214523	.	G	A,*	1301.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.612;DP=926;ExcessHet=0.1072;FS=3.656;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=-1.427e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/2:94,0,36:130:99:1220,1503,5450,0,3947,3838	19	0	1	0
chr4	8214523	8214523	G	0	exonic	SH3TC1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1301.06	34	chr4	8214523	.	G	A,*	1301.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.612;DP=926;ExcessHet=0.1072;FS=3.656;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=5.23;ReadPosRankSum=-1.427e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/2:94,0,36:130:99:1220,1503,5450,0,3947,3838	19	0	1	0
chr4	9210956	9210956	C	G	exonic	USP17L10	.	stopgain	USP17L10:NM_001256852:exon1:c.C300G:p.Y100X,	.	.	1294	226	0	2	0	4	0.00877193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.382	13.92	0.337	0.444	2.408	6.567	.	.	.	.	0.0069	0	0	0	0	0	0	0.0351	0.001022	158	154602	rs759637493	0.0036	0.0012	0.0020	0.0053	0.0383	0.0034	0.0034	0.0362	0.0353	0	0	0	0.0003	0	0	6.404e-05	0.0031	0.0383	0.0018	0.0023	0.0009	0.0028	0.0329	0.0014	0.0012	0.0247	0.0218	0	0	0	0	0	0	0	8.532e-05	0	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	5.826322	0.93719	33	0.99040729024750107	0.51028	0.42175	0.26820	N	AEFI	0.066284	0.12973	N	0.35928050468064	0.59231	4.100852	-0.00552036264661723	0.39465	2.340404	0.0017258734649051	0.08818	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	1.411000	0.34311	.	.	0.397000	0.20528	1.000000	0.71638	0.617000	0.25797	0.213000	0.22268	0.0:0.9998:0.0:2.0E-4	6.567	0.21715	.	.	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	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	4464.35	478	chr4	9210956	.	C	G	4464.35	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.120e-01;DP=478;ExcessHet=0.0000;FS=0.381;MLEAC=3;MLEAF=0.500;MQ=59.74;MQRankSum=0.954;QD=12.54;ReadPosRankSum=-2.240e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:182,174:356:99:4462,0,4749	2	0	1	18
chr4	9211077	9211077	C	A	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C421A:p.H141N,	.	.	1298	219	0	5	0	10	0.0223214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	-0.47	N	3.51	T	-0.922	T	0.006	T	0.086	-1.727	0.011	-0.674	-0.782	0.979	.	0.034	.	.	0.00119808	0.0092	0	0.0007	0	0	0	0	0.0449	0.0012936	200	154602	rs568922052	0.0042	0.0014	0.0024	0.0060	0.0433	0.0040	0.0039	0.0410	0.0401	0	0	0.0002	0	0	0.0034	0.0002	0.0040	0.0433	0.0017	0.0021	0.0008	0.0026	0.0269	0.0013	0.0011	0.0194	0.0168	0.0012	0	0	0	0	0	0	0.0003	0	0.0269	0.338	0.12796	T	0.782	0.04302	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	-1.045	0.01074	N	3.51	0.04959	T	1.55	0.00694	N	0.244	0.27554	-0.9219	0.45293	T	0.006	0.02093	T	5	0.0031163692	0.00052	T	.	.	.	0.034	0.08419	0.336	0.32491	0.0482279557977	0.04254	0.005254710017405761	0.00496	.	.	0.638035655022	0.58284	T	0.001	0.00865	T	-0.380993	0.03071	T	-0.785046	0.02304	T	0.0282142295791235	0.01719	T	0.0892911	0.00660	T	0.056557078	0.11142	0.07489258	0.16432	0.056557078	0.11141	0.07489258	0.16431	-5.395	0.40871	T	.	.	0.089	0.11989	B	.;.	.;.	0.164240	0.05541	2.002	0.67709135495991879	0.08436	0.00649	0.02827	N	AEFI	0.021847	0.01021	N	-0.90907497246602	0.10628	0.5088357	-1.04189882986195	0.08876	0.4386377	1.1710982475576E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	-0.674	0.10797	-0.016000	0.12550	.	.	-1.710000	0.00744	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.125	4410.58	452	chr4	9211077	.	C	A	4410.58	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-9.040e-01;DP=452;ExcessHet=0.0000;FS=0.398;MLEAC=3;MLEAF=0.375;MQ=59.82;MQRankSum=-1.750e-01;QD=13.45;ReadPosRankSum=-2.830e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/1:156,172:328:99:4410,0,4071	3	0	1	17
chr4	9268691	9268691	G	C	exonic	USP17L20;USP17L22	.	nonsynonymous SNV	USP17L20:NM_001256861:exon1:c.G1073C:p.S358T	.	.	1201	286	32	3	0	38	0.0622951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.026	B	0.273	N	1.000	N	-0.255	N	3.35	T	-0.960	T	0.008	T	0.041	0.106	4.572	-0.674	-0.463	0.939	.	0.047	0.00252801589494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190046545	0.0162	0.0048	0.0141	0.0180	0.0925	0.0152	0.0149	0.0834	0.0799	0.0013	0.0668	0.0042	0.0153	0.0084	0.0085	0.0099	0.0112	0.0925	0.0167	0.0016	0	0.0357	0.0217	0.0030	0.0012	.	.	0	.	0	0	.	0.0357	.	0.0217	.	0	0.003	0.68238	D	0.008	0.67890	D	0.002	0.09854	B	0.026	0.20792	B	0.272848	0.15094	N	0.530180	0.999999	0.08975	N	0.23	0.09627	N	3.35	0.05989	T	-1.09	0.28290	N	0.042	0.01825	-0.9598	0.39218	T	0.008	0.02842	T	9	0.001774013	0.00023	T	0.002528	0.05065	T	0.047	0.12962	.	.	.	.	0.010295473243389567	0.00990	.	.	0.555411934853	0.46620	T	0.012805	0.11189	T	-0.374487	0.03373	T	-0.775701	0.02586	T	0.00945624223669672	0.00122	T	0.440756	0.12177	T	0.23182844	0.45961	0.15108691	0.35605	0.23182844	0.45961	0.15108691	0.35604	-7.752	0.59368	D	.	.	0.109	0.20896	B	.;.	.;.	1.406614	0.18215	13.61	0.86885054519545457	0.16839	0.08602	0.14508	N	AEFI	0.043507	0.06886	N	-1.09628047717139	0.06711	0.309726	-1.13963482210736	0.06956	0.3365952	1.15120976389251E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	-0.674	0.10797	0.616000	0.24038	.	.	0.297000	0.18867	0.057000	0.21666	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04167	278.44	28	chr4	9268691	.	G	C	278.44	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.363;DP=814;ExcessHet=0.0000;FS=2.551;InbreedingCoeff=0.2428;MLEAC=2;MLEAF=0.083;MQ=30.78;MQRankSum=2.35;QD=7.14;ReadPosRankSum=-5.680e-01;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,10:39:99:0|1:9268687_T_G:285,0,1057:9268687	11	0	1	9
chr4	9782215	9782215	C	A	exonic	DRD5	.	stopgain	DRD5:NM_000798:exon1:c.C186A:p.C62X,	Dystonia, primary cervical (3)	.	386	1130	5	1	0	7	0.00308778	.	.	3203358	DRD5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.512	24.3	-1.98	-0.688	-0.758	11.832	.	.	.	0.00159744	0.0010	0	8.94e-05	0	0	4.796e-05	0	0.0077	0.0007891	122	154602	rs570059380	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	2.991e-05	0	3.848e-05	0	0	0.0012	6.3e-06	0.0004	0.0066	0.0002	0.0002	0.0001	0.0003	0.0056	0.0002	0.0001	0.0039	0.0034	7.212e-05	0	0	0	0	0	0	2.94e-05	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.721	0.72299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.148637	0.28526	T	0.017443	0.71465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.717760	0.75853	26.4	0.97854186248083119	0.36418	0.47422	0.27979	N	AEFDBI	0.223850	0.34815	N	-0.593673650128095	0.19135	0.9991522	-0.941836232594827	0.11113	0.5641793	0.84216131042656	0.24887	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	3.87	-1.98	0.07070	-0.838000	0.04480	.	.	-1.150000	0.01427	0.002000	0.15269	0.000000	0.08366	0.622000	0.31948	0.0:0.5591:0.0:0.4409	11.832	0.51576	917	0.20147	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	0.02381	593.98	35	chr4	9782215	.	C	A	593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=1.16;SOR=0.628	GT:AD:DP:GQ:PL	0/1:24,21:45:99:608,0,603	20	0	1	0
chr4	15003171	15003171	C	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.C498A:p.F166L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	.	.	.	.	.	.	1.000	N	0	N	0.8	T	-1.035	T	0.072	T	0.234	2.889	15.63	2.86	1.618	0.302	9.350	0.046	0.64443606595	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1054294649	2.894e-06	4.104e-06	1.428e-06	4.398e-06	0.0004	6.8e-07	4.6e-07	6.173e-05	2.551e-05	0	0	0	0	0	0.0004	9.274e-07	0	1.263e-05	6.59e-06	6.569e-06	0	1.35e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.0	0.91255	D	0.789	0.04207	T	.	.	.	.	.	.	.	.	.	.	0.990359	0.24182	N	.	.	.	0.78	0.49358	T	-0.68	0.19509	N	0.127	0.12198	-1.0353	0.18762	T	0.072	0.29323	T	7	0.14563066	0.27622	T	0.644436	0.96977	D	0.046	0.12618	0.131	0.03577	0.216943180021	0.21308	0.010066571108540456	0.00968	0.369964310443	0.38527	0.782397091389	0.79289	T	.	.	.	-0.142543	0.29486	T	-0.44253	0.28526	T	0.793429434299469	0.45914	D	.	.	.	.	.	.	.	.	.	.	.	-3.032	0.14589	T	.	.	0.763	0.83876	P	.;.	.;.	2.696483	0.35208	19.84	0.99444880525502455	0.64971	0.00909	0.03552	N	AEFDGBHCI	0.069504	0.13760	N	-0.297549843075845	0.29243	1.619952	-0.27755873792579	0.28839	1.611087	0.999999999811948	0.74766	0.623204	0.39778	0	0.166054	0.03914	2	0.378051	0.06126	2	0.56214	0.19341	0	.	.	2.86	2.86	0.32427	1.028000	0.29734	2.573000	0.33375	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	9.350	0.37294	588	0.69043	.;.	.	.	.	.	.	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	1105.98	41	chr4	15003171	.	C	A	1105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.002e+00;DP=906;ExcessHet=0.0000;FS=2.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=0.552;SOR=1.022	GT:AD:DP:GQ:PL	0/1:24,44:68:99:1120,0,557	20	0	1	0
chr4	15688136	15688136	C	T	exonic	FAM200B	.	nonsynonymous SNV	FAM200B:NM_001145191:exon2:c.C1159T:p.R387C,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	.	.	0.950	N	2.25	M	0.5	T	-0.873	T	0.216	T	0.829	1.736	11.77	1.76	0.669	-0.315	5.178	0.274	0.00660427240239	.	0.000399361	0.0008	0	0.0024	0.0016	0	0.0002	0	0.0015	0.0001035	16	154602	rs188407400	0.0003	0.0003	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0040	0.0006	0.0010	0.0005	0.0002	2.03e-05	0.0062	0.0002	0.0007	0.0013	0.0004	0.0004	0.0004	0.0003	0.0020	0.0003	0.0003	0.0015	0.0013	0.0001	0	0.0020	0.0003	0.0006	0	0.0034	0.0002	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.949795	0.26525	N	2.825	0.82220	M	0.5	0.55608	T	-7.37	0.94674	D	0.255	0.30118	-0.8729	0.50310	T	0.216	0.57745	T	8	0.034727782	0.01691	T	0.006604	0.17415	T	0.274	0.59007	.	.	0.229924730088	0.22615	0.4268844138963729	0.42605	.	.	0.298779249191	0.10220	T	0.102556	0.41040	T	-0.150828	0.28183	T	-0.0349821	0.68037	D	0.209553130412703	0.20930	T	0.890911	0.62511	D	0.46962094	0.65266	0.36781144	0.62083	0.46962094	0.65267	0.36781144	0.62083	-6.374	0.49307	T	.	.	0.097	0.18622	B	.;.	.;.	2.626712	0.34148	19.55	0.99891639898632456	0.96589	0.02065	0.06157	N	AEFDGBIJ	.	.	.	-0.00445208269225672	0.41654	2.495326	-0.211078748797485	0.31136	1.759358	0.999992373768661	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	2.62	1.76	0.23776	-0.682000	0.05286	-2.822000	0.03326	0.545000	0.25583	0.002000	0.15269	0.000000	0.08366	0.984000	0.60418	0.0:0.8317:0.0:0.1683	5.178	0.14471	542	0.72843	.;.	.	.	.	.	.	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	2160.98	35	chr4	15688136	.	C	T	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1318;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.085;SOR=0.727	GT:AD:DP:GQ:PL	0/1:92,85:177:99:2175,0,2254	20	0	1	0
chr4	47569072	47569072	G	A	exonic	ATP10D	.	nonsynonymous SNV	ATP10D:NM_020453:exon16:c.G3089A:p.R1030Q,	.	.	.	.	.	.	.	.	.	.	.	3301062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.906	P	0.000	D	1.000	D	3.26	M	-1.27	T	0.425	D	0.657	D	0.957	4.924	28.5	6.04	2.873	4.830	12.748	0.750	0.0507218193156	0.0002	.	0.0003	9.796e-05	0.0007	0	0	0.0005	0	0	0.0002975	46	154602	rs138541186	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.987e-05	0.0003	0.0058	0	0	0.0002	6.655e-05	0.0006	1.159e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.72e-05	0.0001	8.292e-05	2.413e-05	0	0.0003	0.0043	0	0	0	1.47e-05	0.0005	0	0.039	0.42487	D	0.033	0.53072	D	0.999	0.77913	D	0.906	0.64351	P	0.000011	0.62929	D	0.066766	0.990542	0.41182	D	2.64	0.77224	M	-1.27	0.79277	T	-3.5	0.68178	D	0.231	0.25989	0.425	0.89464	D	0.657	0.88073	D	10	0.02076003	0.00484	T	0.050722	0.64362	D	0.750	0.91413	.	.	0.931863963041	0.93116	0.7989112234564344	0.79844	0.300015251806	0.32365	0.365988492966	0.20255	T	0.416919	0.76972	T	0.136972	0.68034	D	0.27513	0.86857	D	0.150250017642975	0.17124	T	0.959004	0.84537	D	0.27346942	0.50414	0.18042809	0.40841	0.27346942	0.50414	0.18042809	0.40840	-10.913	0.79179	D	.	.	0.082	0.08899	B	.	.	4.341024	0.66595	25.0	0.99958184922363646	0.99986	0.97658	0.76213	D	AEFDBI	0.644748	0.62089	D	0.859448875205673	0.89638	10.055	0.814092329962937	0.90757	10.55399	0.999999990512614	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	4.930000	0.63163	4.573000	0.43888	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0817:0.0:0.9183:0.0	12.748	0.56666	473	0.77910	.	.	.	.	.	.	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	2555.98	36	chr4	47569072	.	G	A	2555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=925;ExcessHet=0.0000;FS=0.526;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-1.493e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/1:96,99:195:99:2570,0,2375	20	0	1	0
chr4	48557067	48557067	C	A	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon35:c.G4177T:p.A1393S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.992	D	0.989	D	0.000	D	1.000	D	1.79	L	1.61	T	-0.540	T	0.364	T	0.801	5.364	34	6.03	2.854	7.818	20.567	0.261	0.039772941585	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs200588184	8.776e-05	8.893e-05	8.596e-05	8.958e-05	0.0003	7.505e-05	7.051e-05	9.631e-05	8.977e-05	0	0	0	0	0	0.0003	0.0001	1.661e-05	0	9.376e-05	9.206e-05	7.827e-05	0.0001	0.0002	5.63e-05	4.444e-05	0.0001	8.934e-05	0	0	6.725e-05	0	0	0	0	0.0002	0	0	0.032	0.44694	D	0.014	0.62352	D	0.228	0.64738	B	0.25	0.78396	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.61	0.53731	T	-1.16	0.34596	N	0.819	0.81758	-0.5403	0.67152	T	0.364	0.72498	T	10	0.647606	0.69417	D	0.039773	0.59002	D	0.261	0.57352	.	.	0.357212565759	0.35331	0.4959369664498766	0.49514	0.847282011839	0.68377	0.86942255497	0.92486	D	0.051941	0.29019	T	-0.0340555	0.46826	T	-0.0173951	0.69200	D	0.492427438497543	0.32353	T	0.965953	0.89563	D	0.22835131	0.45553	0.20958145	0.45309	0.22835131	0.45553	0.20958145	0.45308	-5.081	0.37706	T	.	.	0.295	0.52565	B	.;.;.	.;.;.	4.004249	0.59023	24.0	0.99791053127295493	0.87661	0.99189	0.92544	D	AEFBI	0.869887	0.79061	D	0.537111695609569	0.69301	5.33751	0.630756087700776	0.77185	6.630883	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.905000	0.86479	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	20.567	0.99354	131	0.94738	Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region	.	.	.	.	.	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	812.98	34	chr4	48557067	.	C	A	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e-01;DP=774;ExcessHet=0.0000;FS=1.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=-1.200e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:40,38:78:99:827,0,892	20	0	1	0
chr4	52745123	52745123	C	G	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.G398C:p.S133T	.	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00231220863941	0.0004	0.00159744	0.0044	0.0004	0	0	0	0.0011	0	0.0090	0.000705	109	154602	rs185720967	0.0016	0.0014	0.0011	0.0020	0.0093	0.0015	0.0015	0.0087	0.0084	0	0.0020	9.985e-05	0	0	0.0052	0.0005	0.0021	0.0093	0.0008	0.0008	0.0005	0.0012	0.0070	0.0007	0.0007	0.0052	0.0045	0.0002	0	0.0038	0	0	0	0.0102	0.0003	0.0009	0.0070	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.019	0.00372	.	.	.	.	.	.	.	0.004608065	0.00096	T	0.002312	0.04452	T	.	.	.	.	0.0762999501168	0.06990	0.26040103510806806	0.25953	.	.	0.557054758072	0.46852	T	9.97E-4	0.00532	T	-0.643556	0.00079	T	-0.689238	0.06433	T	.	.	.	0.178782	0.01763	T	0.019858886	0.00526	0.061603524	0.11923	0.019858886	0.00526	0.061603524	0.11923	-3.0	0.10181	T	.	.	0.051	0.00286	B	.;.	.;.	0.054012	0.04668	1.317	0.87021243432755879	0.16933	0.00018	0.00208	N	AEFBI	0.012793	0.00150	N	.	.	.	.	.	.	9.41297695948815E-5	0.04910	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	1.22	0.352	0.15287	0.403000	0.20706	0.410000	0.18100	-1.251000	0.01302	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.3657:0.6343:0.0	5.340	0.15282	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2134.98	92	chr4	52745123	.	C	G	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=1296;ExcessHet=0.0000;FS=2.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-2.110e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/1:103,88:191:99:2149,0,2656	20	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.500	N	1.000	N	0.11	N	-1.0	T	-0.935	T	0.210	T	0.088	-2.061	0.006	-1.83	-0.366	-0.114	13.716	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	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	0.1667	733.66	116	chr4	53145477	.	T	C	733.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.026e+00;DP=1805;ExcessHet=2.5830;FS=148.015;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=0.708;SOR=11.035	GT:AD:DP:GQ:PL	0/1:121,42:163:99:133,0,2392	14	0	7	0
chr4	64280080	64280080	T	G	exonic	TECRL	.	nonsynonymous SNV	TECRL:NM_001010874:exon12:c.A1084C:p.I362L,	Ventricular tachycardia, catecholaminergic polymorphic, 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.001	B	0.01	B	0.000	D	1.000	N	0.275	N	1.48	T	-0.993	T	0.028	T	0.23	-1.227	0.060	1.17	0.033	0.522	3.461	0.057	0.00449581025668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	0.02671	T	0.817	0.03863	T	0.001	0.07471	B	0.01	0.14941	B	0.000099	0.51296	D	0.166576	0.999931	0.51612	D	0.58	0.15352	N	1.48	0.31731	T	-0.02	0.07299	N	0.247	0.27910	-0.9933	0.31749	T	0.028	0.11971	T	10	0.11408955	0.21454	T	0.004496	0.11031	T	0.057	0.16321	0.566	0.68768	0.163833314356	0.15978	0.4406120558300872	0.43978	0.013703828924	0.01312	0.632058918476	0.57437	T	0.144335	0.48091	T	-0.234878	0.16008	T	-0.575163	0.14980	T	0.0658993777362252	0.08064	T	0.39686	0.10010	T	0.0642043	0.13597	0.05133139	0.08240	0.0642043	0.13596	0.05133139	0.08239	-3.718	0.19584	T	0.09668303696673697	0.06719	0.067	0.02488	B	.	.	0.477201	0.08466	5.226	0.26949164658168973	0.01315	0.75193	0.36805	D	AEFI	0.190816	0.31804	N	-0.895672893606641	0.10945	0.5256045	-0.785676238295269	0.14846	0.7778514	1.32774891396336E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	1.17	0.19998	0.766000	0.26225	.	.	0.663000	0.56723	0.878000	0.30948	0.901000	0.27973	0.524000	0.29567	0.166:0.1855:0.0:0.6485	3.461	0.07098	968	0.07033	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	735.98	36	chr4	64280080	.	T	G	735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.383;DP=750;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.560e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:28,32:60:99:750,0,633	20	0	1	0
chr4	73854066	73854066	T	A	exonic	PF4V1	.	nonsynonymous SNV	PF4V1:NM_002620:exon3:c.T259A:p.L87M,	.	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.004	N	0.883	N	3.51	H	3.3	T	-1.079	T	0.046	T	0.334	2.802	15.33	0.245	-0.006	-0.194	3.625	0.132	0.00724580577093	0.0021	0.000998403	0.0020	0.0003	0.0025	0	0	0.0030	0.0055	0.0004	0.0018823	291	154602	rs144390629	0.0016	0.0016	0.0016	0.0016	0.0198	0.0015	0.0015	0.0168	0.0157	0.0004	0.0033	0.0295	2.519e-05	1.872e-05	0.0198	0.0009	0.0042	0.0004	0.0019	0.0019	0.0020	0.0018	0.0037	0.0017	0.0016	0.0030	0.0027	0.0004	0.0099	0.0037	0.0334	0	0	0.0136	0.0010	0.0066	0.0004	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.003562	0.34767	N	0.188546	0.883479	0.28008	N	3.63	0.94006	H	3.3	0.06368	T	-1.88	0.43906	N	0.524	0.55366	-1.0788	0.07582	T	0.046	0.19760	T	10	0.014979571	0.00314	T	0.007246	0.19225	T	0.132	0.35948	.	.	0.104622674875	0.10061	0.16905330169777852	0.16825	0.746937198462	0.63572	0.373347193003	0.21310	T	0.200484	0.55809	T	-0.481996	0.00720	T	-0.469122	0.25611	T	0.135686137053521	0.15898	T	0.754325	0.37688	T	0.49823883	0.66992	0.20690052	0.44925	0.49823883	0.66993	0.20690052	0.44924	-7.41	0.56975	T	.	.	0.280	0.51341	B	.	.	1.981298	0.25168	16.67	0.98963948329266327	0.49383	0.65773	0.32850	D	AEFDBCI	0.141555	0.26375	N	0.066160601643259	0.44889	2.754864	-0.160980490301472	0.32988	1.88232	0.96470685480027	0.28779	0.559995	0.30671	0	0.563428	0.19063	0	0.527494	0.11647	0	0.444512	0.06955	0	.	.	4.01	0.245	0.14772	-0.128000	0.10508	0.338000	0.17353	-0.866000	0.02592	0.964000	0.33853	0.964000	0.29435	0.005000	0.06747	0.0:0.4725:0.1899:0.3377	3.625	0.07654	707	0.57054	Chemokine interleukin-8-like domain|CXC chemokine, conserved site|Chemokine interleukin-8-like domain|CXC Chemokine 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	1479.98	36	chr4	73854066	.	T	A	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=888;ExcessHet=0.0000;FS=4.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.800e-02;SOR=1.053	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1494,0,1724	20	0	1	0
chr4	74180815	74180819	TCCTG	-	exonic	MTHFD2L	.	stopgain	MTHFD2L:NM_001351314:exon5:c.19_23del:p.C8*,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs778332609	0.0011	0.0005	0.0012	0.0009	0.0026	0.0009	0.0009	0.0011	0.0008	0	0.0002	0.0174	0	0	0.0026	0.0004	0.0018	0.0003	0.0010	0.0010	0.0009	0.0011	0.0006	0.0008	0.0008	0.0005	0.0004	7.216e-05	0.0099	6.543e-05	0.0259	0	0	0	0.0006	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	924.94	34	chr4	74180814	.	CTCCTG	C	924.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.860e-01;DP=788;ExcessHet=0.0000;FS=1.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.55;ReadPosRankSum=0.341;SOR=0.334	GT:AD:DP:GQ:PL	0/1:21,24:45:99:939,0,801	20	0	1	0
chr4	76179654	76179654	T	C	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon4:c.A475G:p.M159V,	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	201793	not_provided|Action_myoclonus-renal_failure_syndrome|Focal_segmental_glomerulosclerosis|not_specified|Inborn_genetic_diseases|Progressive_myoclonic_epilepsy	MedGen:C3661900|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	0.128	N	1.000	N	0.345	N	-0.5	T	-1.072	T	0.081	T	0.028	0.565	7.056	-2.68	-0.036	-0.367	1.306	0.126	.	0.0086	0.00379393	0.0090	0.0021	0.0079	0	0.0089	0.0134	0.0121	0.0008	0.0084734	1310	154602	rs143655258	0.0093	0.0093	0.0093	0.0094	0.0255	0.0092	0.0091	0.0221	0.0209	0.0024	0.0081	0.0132	0.0001	0.0107	0.0255	0.0102	0.0104	0.0014	0.0084	0.0084	0.0085	0.0082	0.0126	0.0080	0.0078	0.0119	0.0116	0.0021	0	0.0091	0.0133	0.0002	0.0093	0.0238	0.0126	0.0137	0.0012	0.453	0.08917	T	0.312	0.19599	T	0.0	0.02946	B	0.002	0.06944	B	0.127953	0.18749	N	0.614874	1	0.19363	N	0.98	0.24916	L	-0.5	0.70480	T	-0.43	0.14390	N	0.107	0.09207	-1.0722	0.08936	T	0.081	0.31913	T	10	0.0043855906	0.00177	T	.	.	.	0.126	0.34673	.	.	0.398872588132	0.39498	0.5319715221617395	0.53122	0.241270319172	0.26655	0.28708845377	0.08500	T	0.117228	0.43716	T	-0.594187	0.00158	T	-0.614608	0.11613	T	0.000357449097651677	0.00003	T	0.644935	0.65058	T	0.094704784	0.22273	0.0792257	0.17815	0.1321169	0.30773	0.058689523	0.10888	-2.279	0.04441	T	0.09772531433022907	0.06908	0.077	0.07272	B	.;.;.;.;.;.	.;.;.;.;.;.	0.956027	0.13325	9.826	0.55732400439372587	0.05403	0.18572	0.20315	N	AEFDBHCI	0.108169	0.21528	N	-1.08282382720702	0.06960	0.3218974	-1.07108497941447	0.08273	0.4060693	0.999997896059296	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.95	-2.68	0.05686	-0.140000	0.10323	1.090000	0.23972	0.665000	0.62972	0.004000	0.16614	0.996000	0.32793	0.944000	0.48669	0.2969:0.0835:0.2595:0.3601	1.306	0.01963	892	0.26670	.;.;.;.;.;.	.	.	.	.	rs143655258	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	2192.11	33	chr4	76179654	.	T	C	2192.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.110e-01;DP=914;ExcessHet=0.1072;FS=1.602;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.17;ReadPosRankSum=0.359;SOR=0.570	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1128,0,1780	19	0	2	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X	.	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.931	20.0	-0.524	-0.063	0.904	10.727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	421.18	37	chr4	82485718	.	G	C	421.18	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-8.010e-01;DP=774;ExcessHet=0.6776;FS=135.841;InbreedingCoeff=-0.1537;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.439;SOR=7.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,14:40:99:0|1:82485718_G_C:108,0,396:82485718	15	0	4	2
chr4	82984252	82984252	A	C	exonic	LIN54	.	nonsynonymous SNV	LIN54:NM_001288996:exon2:c.T593G:p.I198S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.275	B	0.07	B	0.009	N	1.000	D	0.345	N	.	.	-1.000	T	0.113	T	0.626	2.693	14.96	5.62	2.266	6.263	16.117	0.131	0.00360518778759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.518	0.46862	T	0.18	0.31898	B	0.032	0.27859	B	0.009239	0.30456	N	0.382470	0.999775	0.81001	D	0.55	0.14455	N	.	.	.	-0.75	0.25770	N	0.498	0.53445	-1.0004	0.29803	T	0.113	0.40238	T	9	0.17180333	0.31919	T	0.003605	0.08247	T	0.131	0.35738	0.272	0.22210	0.102598925029	0.09809	0.6039389758090572	0.60324	0.296570310644	0.32047	0.628779411316	0.56971	T	0.034797	0.23466	T	0.124985	0.66869	D	-0.0582444	0.66455	T	0.638748380310257	0.37984	D	0.915408	0.69775	D	0.46584243	0.65035	0.34167713	0.59904	0.46584243	0.65035	0.34167713	0.59903	-2.168	0.03888	T	.	.	0.277	0.61531	B	.;.;.	.;.;.	4.001230	0.58965	24.0	0.98887384262687084	0.47930	0.97535	0.75383	D	AEFBI	0.806412	0.73073	D	-0.00590302813105012	0.41587	2.490203	0.207633933936122	0.50270	3.220875	0.999999999773133	0.74766	0.643511	0.44296	0	0.615513	0.52658	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.62	5.62	0.85714	8.054000	0.89239	11.198000	0.88920	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.117	0.81124	895	0.25842	.;.;.	.	.	.	.	.	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	935.98	38	chr4	82984252	.	A	C	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.067e+00;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=0.137;SOR=0.706	GT:AD:DP:GQ:PL	0/1:76,46:122:99:950,0,1903	20	0	1	0
chr4	87340560	87340560	G	A	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon6:c.C742T:p.H248Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.0	B	0.268	N	1.000	N	0.55	N	0.83	T	-0.738	T	0.316	T	0.075	0.732	7.887	-3.48	-0.866	-0.856	6.877	0.144	0.0405090570995	0.0022	0.000599042	0.0017	0.0005	0.0009	0	0.0005	0.0028	0	6.067e-05	0.0016235	251	154602	rs145655841	0.0026	0.0026	0.0027	0.0025	0.0032	0.0025	0.0025	0.0031	0.0030	0.0004	0.0013	0.0007	2.522e-05	0.0001	0.0002	0.0032	0.0025	8.14e-05	0.0018	0.0018	0.0022	0.0014	0.0032	0.0016	0.0016	0.0029	0.0027	0.0005	0	0.0018	0.0009	0	0.0002	0	0.0032	0.0014	0	0.076	0.34269	T	0.004	0.76473	D	.	.	.	.	.	.	0.267646	0.15190	N	0.671775	0.999629	0.20843	N	.	.	.	-2.41	0.88533	D	-2.04	0.46842	N	0.1	0.10626	-0.7381	0.58550	T	0.316	0.68611	T	10	0.012391686	0.00266	T	0.040509	0.59414	D	0.144	0.38394	.	.	0.224531998449	0.22054	0.44628402819173124	0.44546	0.349652693418	0.36813	0.271529942751	0.06341	T	.	.	.	-0.471999	0.00826	T	-0.454135	0.27241	T	0.00286297266085967	0.00030	T	0.109589	0.00821	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20274	B	.;.	.;.	0.065658	0.04751	1.377	0.83370032424748375	0.14689	0.03163	0.08134	N	AEFBI	0.095258	0.19248	N	-1.41790170922715	0.02482	0.1096439	-1.42741692156388	0.02981	0.138187	0.260164062967663	0.18780	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.64	-3.48	0.04438	-1.035000	0.03674	-1.693000	0.04903	-0.988000	0.01860	0.006000	0.17386	0.000000	0.08366	0.397000	0.26714	0.0:0.3414:0.3999:0.2587	6.877	0.23335	660	0.61921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	840.98	33	chr4	87340560	.	G	A	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=776;ExcessHet=0.0000;FS=2.815;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.197;SOR=1.015	GT:AD:DP:GQ:PL	0/1:53,36:89:99:855,0,1225	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	0/2:26,0,22:48:99:841,924,2043,0,1087,1022	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	0/2:18,0,17:35:99:.:.:600,654,1359,0,705,652	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	0/2:18,0,17:35:99:.:.:600,654,1359,0,705,652	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|2:25,0,28:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:934,1010,2059,0,1050,973:87615920	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|2:25,0,28:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:934,1010,2059,0,1050,973:87615920	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|2:25,0,28:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:934,1010,2059,0,1050,973:87615920	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|2:25,0,28:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:934,1010,2059,0,1050,973:87615920	0	3	5	9
chr4	87615999	87616080	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	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	.	1069	426	12	14	1	41	0.044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	2282.15	5	chr4	87615999	.	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	G,*	2282.15	.	AC=4,2;AF=0.118,0.059;AN=34;BaseQRankSum=2.41;DP=492;ExcessHet=0.0022;FS=0.000;InbreedingCoeff=0.4539;MLEAC=5,3;MLEAF=0.147,0.088;MQ=59.19;MQRankSum=-2.624e+00;QD=15.42;ReadPosRankSum=0.297;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,20,0:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,0,1297,772,1356,2128:87615920	13	1	2	4
chr4	87616001	87616001	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	.	1074	417	12	15	4	46	0.0479452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	71.45	5	chr4	87616001	.	T	A,*	71.45	.	AC=2,6;AF=0.050,0.150;AN=40;DP=491;ExcessHet=0.0003;FS=0.000;InbreedingCoeff=0.5399;MLEAC=1,7;MLEAF=0.025,0.175;MQ=59.50;QD=0.48;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,20:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,772,2128,0,1356,1297:87615920	15	1	0	1
chr4	87616007	87616007	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	.	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	105.75	7	chr4	87616007	.	T	C,*	105.75	.	AC=4,6;AF=0.095,0.143;AN=42;DP=498;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6744;MLEAC=2,6;MLEAF=0.048,0.143;MQ=53.79;QD=0.70;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,20:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,772,2128,0,1356,1297:87615920	15	2	0	0
chr4	87616008	87616008	G	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	.	1045	447	12	14	4	44	0.0428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.22	7	chr4	87616008	.	G	A,*	71.22	.	AC=2,4;AF=0.050,0.100;AN=40;DP=501;ExcessHet=0.0011;FS=0.642;InbreedingCoeff=0.4327;MLEAC=1,4;MLEAF=0.025,0.100;MQ=59.50;QD=0.52;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,20:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,772,2128,0,1356,1297:87615920	16	1	0	1
chr4	87616019	87616028	CAGCAGCAAT	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	693.18	7	chr4	87616019	.	CAGCAGCAAT	C,*	693.18	.	AC=2,4;AF=0.050,0.100;AN=40;DP=533;ExcessHet=0.0013;FS=0.000;InbreedingCoeff=0.4839;MLEAC=2,4;MLEAF=0.050,0.100;MQ=50.57;QD=4.59;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,20:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,772,2128,0,1356,1297:87615920	16	1	0	1
chr4	87616046	87616046	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	.	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	641.05	17	chr4	87616046	.	C	A,*	641.05	.	AC=2,4;AF=0.059,0.118;AN=34;BaseQRankSum=-1.937e+00;DP=586;ExcessHet=0.0015;FS=0.000;InbreedingCoeff=0.3914;MLEAC=2,5;MLEAF=0.059,0.147;MQ=50.53;MQRankSum=1.39;QD=4.19;ReadPosRankSum=0.892;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,20:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,772,2128,0,1356,1297:87615920	13	1	0	4
chr4	87616061	87616061	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	693.45	18	chr4	87616061	.	T	C,*	693.45	.	AC=2,4;AF=0.200,0.400;AN=10;BaseQRankSum=-1.239e+00;DP=595;ExcessHet=0.0096;FS=0.595;InbreedingCoeff=0.1523;MLEAC=5,9;MLEAF=0.500,0.900;MQ=54.88;MQRankSum=2.78;QD=4.50;ReadPosRankSum=2.08;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,20:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,772,2128,0,1356,1297:87615920	1	1	0	16
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	679.13	18	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	T,*	679.13	.	AC=2,4;AF=0.071,0.143;AN=28;BaseQRankSum=-1.920e-01;DP=586;ExcessHet=0.0018;FS=0.595;InbreedingCoeff=0.3428;MLEAC=3,5;MLEAF=0.107,0.179;MQ=54.88;MQRankSum=2.78;QD=4.41;ReadPosRankSum=2.13;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,0,20:53:99:0|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:672,772,2128,0,1356,1297:87615920	10	1	0	7
chr4	88442296	88442296	C	T	exonic	HERC6	.	nonsynonymous SNV	HERC6:NM_001165136:exon22:c.C2797T:p.R933C	.	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.068	B	0.028	B	0.451	N	0.591	N	0.465	N	0.31	T	-0.985	T	0.094	T	0.17	0.929	8.786	0.802	0.310	-0.186	5.490	0.056	0.0104113690788	8.4e-05	.	4.512e-05	0	0	0	0	3.244e-05	0	0.0002	5.82e-05	9	154602	rs370325778	7.117e-05	7.114e-05	6.536e-05	7.704e-05	0.0002	5.982e-05	5.59e-05	0.0001	0.0001	0	2.239e-05	0	0	0	0.0002	7.286e-05	3.313e-05	0.0002	2.629e-05	3.284e-05	1.285e-05	4.036e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.111	0.29029	T	0.131	0.34959	T	0.055	0.23728	B	0.016	0.21332	B	0.451489	0.12502	N	0.719558	0.972295	0.25608	N	0.33	0.10399	N	0.31	0.58613	T	-0.49	0.36385	N	0.164	0.17278	-0.9854	0.33735	T	0.094	0.35658	T	10	0.07416275	0.11300	T	0.010411	0.26915	T	0.056	0.15993	.	.	0.564208378351	0.56084	0.3973146840843445	0.39646	0.253572842962	0.27933	0.314834088087	0.12639	T	0.02155	0.16761	T	-0.392503	0.02592	T	-0.505388	0.21790	T	0.0386554961563793	0.03448	T	0.69903	0.30897	T	0.35824966	0.57702	0.18033119	0.40825	0.35824966	0.57702	0.18033119	0.40824	-3.898	0.23878	T	.	.	0.093	0.13969	B	.;.	.;.	1.703691	0.21698	15.31	0.9237057149246326	0.21776	0.04167	0.09661	N	AEFBI	0.046447	0.07714	N	-0.867638875325537	0.11619	0.5616765	-0.793454965072147	0.14655	0.7668724	0.990671121663583	0.32232	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.69	0.802	0.17828	-0.217000	0.09258	-6.233000	0.01457	-0.947000	0.02050	0.001000	0.13787	0.000000	0.08366	0.492000	0.28837	0.0:0.5373:0.14:0.3228	5.490	0.16063	734	0.53889	.;HECT domain|HECT domain|HECT domain|HECT 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	1205.98	34	chr4	88442296	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=810;ExcessHet=0.0000;FS=3.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.42;ReadPosRankSum=0.260;SOR=0.429	GT:AD:DP:GQ:PL	0/1:77,51:128:99:1220,0,2049	20	0	1	0
chr4	99034284	99034284	A	G	exonic	METAP1	.	nonsynonymous SNV	METAP1:NM_015143:exon3:c.A221G:p.N74S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.003	B	0.000	D	1.000	D	0.625	N	.	.	-1.005	T	0.120	T	0.207	1.879	12.24	5.24	1.990	7.471	13.749	0.053	0.00545622157831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.721e-06	5.472e-06	5.645e-06	5.799e-06	6.493e-06	2.46e-06	1.78e-06	2.7e-06	1.74e-06	0	0	0	0	0	0	6.493e-06	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.10412	T	0.642	0.06925	T	0.0	0.02946	B	0.003	0.08700	B	0.000000	0.84330	D	0.046048	0.999997	0.58761	D	0.6	0.15550	N	.	.	.	-0.69	0.19720	N	0.387	0.42834	-1.0052	0.28397	T	0.120	0.41950	T	8	0.18173268	0.33419	T	0.005456	0.14015	T	0.053	0.14996	0.243	0.17677	0.433491693731	0.42969	0.43917266599487886	0.43834	0.310035681446	0.33317	0.671293318272	0.63022	T	0.067812	0.33298	T	-0.0937612	0.37456	T	-0.372458	0.36601	T	0.672861874103546	0.39465	D	0.909509	0.67973	D	0.15240751	0.34598	0.08225409	0.18758	0.15240751	0.34597	0.08225409	0.18758	-3.426	0.15408	T	.	.	0.072	0.04080	B	.	.	2.930466	0.38935	20.8	0.96302867075564658	0.29354	0.98028	0.78995	D	AEBI	0.898575	0.84201	D	-0.0392189079115047	0.40086	2.37461	0.170022735223955	0.48213	3.04027	0.999999998139214	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.500000	0.80424	9.085000	0.78728	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.749	0.62381	796	0.45353	.	.	.	.	.	.	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	1216.98	40	chr4	99034284	.	A	G	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=853;ExcessHet=0.0000;FS=3.229;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=-8.500e-02;SOR=0.796	GT:AD:DP:GQ:PL	0/1:77,53:130:99:1231,0,1804	20	0	1	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	0/1:80,53:133:99:428,0,1003	2	0	18	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,73:153:99:.:.:668,0,970	4	0	16	1
chr4	99652474	99652474	C	A	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2175T:p.E725D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	.	.	.	.	.	.	.	.	0.345	N	2.28	T	-1.011	T	0.022	T	0.087	2.542	14.46	1.7	0.578	-0.142	2.589	0.033	0.00438324797833	.	.	8.203e-05	0	0	0	0	0	0.0077	0	2.59e-05	4	154602	rs565917055	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	6.331e-05	0.0001	0	0	0.0002	0	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.218e-05	0	0	0	0.0006	0.0002	0.0034	0.0005	0	0.0010	0.227	0.18498	T	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.28	0.17271	T	-0.31	0.12099	N	0.11	0.09631	-1.0108	0.26666	T	0.022	0.09330	T	6	0.06921783	0.09899	T	0.004383	0.10687	T	0.033	0.08068	0.222	0.14518	0.101711395817	0.09552	0.2161820368808684	0.21534	.	.	.	.	.	0.011177	0.10005	T	-0.586027	0.00177	T	-0.734626	0.04120	T	0.0528122447431087	0.05987	T	0.452755	0.12846	T	0.05726467	0.11375	0.049784932	0.07678	0.05726467	0.11375	0.049784932	0.07678	-3.394	0.14976	T	.	.	0.204	0.42891	B	.	.	2.191653	0.27947	17.63	0.99532744176648891	0.69963	0.74011	0.36201	D	AEFBI	0.207985	0.33410	N	-0.165697794737922	0.34568	1.974751	-0.110709881615865	0.34958	2.016789	0.999695332595845	0.41870	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	1.7	0.23359	-0.141000	0.10308	-0.396000	0.09442	0.599000	0.40250	0.855000	0.30528	0.083000	0.22416	0.998000	0.85391	0.1955:0.5112:0.118:0.1753	2.589	0.04543	927	0.17636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3207.98	35	chr4	99652474	.	C	A	3207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.490e-01;DP=1525;ExcessHet=0.0000;FS=3.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-1.390e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:154,139:293:99:3222,0,3687	20	0	1	0
chr4	102632140	102632140	T	C	exonic	MANBA	.	nonsynonymous SNV	MANBA:NM_005908:exon17:c.A2557G:p.I853V,	Mannosidosis, beta, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.005	B	0.027	N	1.000	N	-1.155	N	-0.27	T	-0.955	T	0.064	T	0.028	-1.103	0.141	-2.65	-0.533	0.833	11.824	0.151	0.00563030375109	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448619062	6.844e-06	8.209e-06	8.172e-06	5.502e-06	8.997e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.997e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.005	0.11217	B	0.026568	0.25897	N	0.407520	1	0.08975	N	-0.85	0.01485	N	-0.27	0.67367	T	0.11	0.05706	N	0.036	0.07262	-0.9551	0.40078	T	0.064	0.26562	T	10	0.035478115	0.01799	T	0.00563	0.14560	T	0.151	0.39764	0.538	0.64874	0.458554320643	0.45480	0.19161018729350507	0.19079	0.0643675075442	0.07174	0.286051988602	0.08350	T	0.223309	0.58742	T	-0.277945	0.10887	T	-0.637025	0.09888	T	0.0234456345567771	0.01076	T	0.658334	0.26756	T	0.010921787	0.00011	0.018927403	0.00071	0.010921787	0.00011	0.018927403	0.00071	-0.591	0.00642	T	0.033849461633612805	0.00153	0.064	0.01960	B	.;.;.;.	.;.;.;.	0.063057	0.04735	1.363	0.34557342801114366	0.02120	0.01614	0.05222	N	AEFDGBI	0.042080	0.06482	N	-1.46678783331584	0.02088	0.09184995	-1.35160855741443	0.03787	0.1773629	0.998752978576264	0.37602	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.678554	0.66404	0	.	.	5.15	-2.65	0.05739	0.867000	0.27621	-2.240000	0.04011	-0.194000	0.09177	0.307000	0.25387	0.000000	0.08366	0.950000	0.49671	0.0:0.4832:0.0:0.5168	11.824	0.51530	957	0.09725	.;.;.;.	.	.	.	.	.	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	3164.98	44	chr4	102632140	.	T	C	3164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1284;ExcessHet=0.0000;FS=4.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.31;SOR=0.939	GT:AD:DP:GQ:PL	0/1:135,129:264:99:3179,0,3194	20	0	1	0
chr4	105718019	105718019	T	A	exonic	GSTCD	.	nonsynonymous SNV	GSTCD:NM_001031720:exon2:c.T406A:p.C136S	.	.	437	1051	30	4	0	38	0.017757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.999	D	0.000	D	1.000	D	2.39	M	.	.	-0.221	T	0.361	T	0.935	4.348	22.9	5.55	2.122	7.458	15.692	0.625	0.00853760859311	0.0032	0.00379393	0.0044	0.0003	0.0020	0	0.0012	0.0051	0.0057	0.0096	0.0040491	626	154602	rs61736388	0.0040	0.0040	0.0039	0.0042	0.0086	0.0039	0.0039	0.0078	0.0076	0.0006	0.0019	0.0208	0	0.0016	0.0086	0.0036	0.0059	0.0083	0.0031	0.0031	0.0031	0.0031	0.0077	0.0029	0.0028	0.0057	0.0050	0.0006	0.0241	0.0017	0.0202	0	0.0008	0.0102	0.0040	0.0047	0.0077	0.087	0.91255	T	0.103	0.92824	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	.	.	.	-5.9	0.93135	D	0.881	0.91047	-0.2212	0.77119	T	0.361	0.72269	T	9	0.013461858	0.00285	T	0.008538	0.22581	T	0.625	0.85511	0.868	0.96212	0.759368345555	0.75718	0.7117710643739951	0.71119	0.465067503905	0.45958	0.781764149666	0.79193	T	0.596905	0.87024	D	0.130843	0.67442	D	0.42072	0.92767	D	0.0257122164237303	0.01367	T	0.849815	0.60169	T	0.571717	0.71155	0.73034966	0.84067	0.571717	0.71156	0.73034966	0.84068	-6.404	0.49540	T	.	.	0.679	0.72466	P	.;.;.;.;.	.;.;.;.;.	3.946728	0.57785	23.9	0.99242258726319921	0.56597	0.98587	0.84406	D	AEFBI	0.930556	0.91804	D	0.784242927495699	0.85109	8.479491	0.760767139453527	0.86961	9.059617	0.999999999883866	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	7.437000	0.79579	7.771000	0.68472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.692	0.77222	940	0.13648	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.;.;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1026.98	35	chr4	105718019	.	T	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=768;ExcessHet=0.0000;FS=0.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.630e-01;SOR=0.899	GT:AD:DP:GQ:PL	0/1:42,38:80:99:1041,0,1034	20	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-0.26	T	0.412	D	0.664	D	0.981	4.876	27.9	5.42	2.704	7.410	19.578	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1269.88	119	chr4	106925843	.	C	T	1269.88	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.410e+00;DP=2366;ExcessHet=2.5830;FS=168.069;InbreedingCoeff=-0.2387;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=0.981;SOR=11.937	GT:AD:DP:GQ:PL	0/1:123,56:179:99:455,0,2218	12	0	7	2
chr4	113902463	113902463	G	-	exonic	ARSJ	.	frameshift deletion	ARSJ:NM_001354210:exon2:c.1611delC:p.D539Tfs*119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1270.94	41	chr4	113902462	.	TG	T	1270.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-7.810e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1285,0,1060	20	0	1	0
chr4	118138160	118138160	T	C	exonic	NDST3	.	nonsynonymous SNV	NDST3:NM_004784:exon5:c.T1331C:p.I444T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.587	P	0.531	P	0.000	D	1.000	D	2.725	M	0.83	T	-0.174	T	0.296	T	0.922	4.359	23.0	5.39	2.037	7.969	15.402	0.644	0.0364321548474	.	.	1.649e-05	0	8.682e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs754599126	4.789e-06	4.788e-06	0	9.626e-06	6.956e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	2.236e-05	0	0	0	0	0	0	6.956e-05	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.368	0.34048	B	0.531	0.48577	P	0.000000	0.84330	D	0.045294	0.999981	0.54805	D	2.815	0.81989	M	0.83	0.47815	T	-4.02	0.74269	D	0.898	0.89800	-0.1739	0.78333	T	0.296	0.66754	T	10	0.844771	0.83639	D	0.036432	0.56990	D	0.644	0.86485	0.583	0.70990	0.860234439383	0.85888	0.9441432382582032	0.94396	1.38980543874	0.84956	0.688610494137	0.65506	T	0.828204	0.95870	D	0.155098	0.69745	D	0.166539	0.81202	D	0.966246366500854	0.67521	D	0.994301	0.98122	D	0.77792645	0.82527	0.75842047	0.85725	0.77792645	0.82528	0.75842047	0.85726	-11.206	0.80775	D	.	.	0.871	0.80959	P	.	.	4.533118	0.71188	25.6	0.99871251919847526	0.94902	0.97817	0.77351	D	AEI	0.938361	0.93743	D	0.503294711551749	0.67282	5.06115	0.554577418095898	0.71718	5.697462	0.999996328342865	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	7.990000	0.87862	7.625000	0.62478	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.402	0.74570	951	0.11083	Heparan sulphate-N-deacetylase	.	.	.	.	.	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	948.98	37	chr4	118138160	.	T	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.310e-01;DP=809;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.71;ReadPosRankSum=1.11;SOR=0.839	GT:AD:DP:GQ:PL	0/1:66,43:109:99:963,0,1725	20	0	1	0
chr4	128959662	128959662	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G985C:p.A329P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	2.095	M	2.91	T	-1.125	T	0.084	T	0.933	3.123	16.44	5.05	2.337	5.625	18.047	0.238	0.0271346558209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.052e-06	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.89	0.83701	M	2.91	0.10008	T	-2.83	0.59710	D	0.898	0.89800	-1.1254	0.02016	T	0.084	0.32872	T	9	0.78856647	0.78460	D	0.027135	0.49983	D	0.238	0.54217	0.274	0.22528	0.546693616777	0.54325	0.751990389580637	0.75146	0.460371396877	0.45595	0.490226864815	0.37469	T	0.433536	0.78093	T	0.196568	0.73572	D	0.04458	0.73228	D	0.985214054584503	0.76274	D	0.80302	0.45008	T	0.81712574	0.85026	0.7704095	0.86444	0.81712574	0.85028	0.7704095	0.86445	-15.801	0.97448	D	.	.	0.912	0.83630	P	.	.	3.845978	0.55678	23.6	0.99800040371157073	0.88461	0.95766	0.66063	D	AEFBI	0.751646	0.69239	D	0.530553789898404	0.68905	5.282067	0.462705299233699	0.65537	4.836318	0.999999780221931	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	5.803000	0.68791	5.745000	0.49595	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	18.047	0.89261	459	0.78817	.	.	.	.	.	.	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	0.02632	75.01	34	chr4	128959662	.	C	G	75.01	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-9.240e-01;DP=1402;ExcessHet=0.0000;FS=167.321;InbreedingCoeff=-0.0618;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=1.74;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,19:128:88:0|1:128959660_A_G:88,0,3670:128959660	18	0	1	2
chr4	128959663	128959663	C	G	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon12:c.G984C:p.E328D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	B	0.074	B	0.000	D	1.000	D	1.7	L	3.0	T	-1.025	T	0.023	T	0.102	0.717	7.817	1.14	0.028	0.314	4.321	0.067	0.00680759020067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.136	0.34009	T	0.085	0.24868	B	0.074	0.28220	B	0.000007	0.62929	D	0.105878	0.998181	0.81001	D	2.11	0.58565	M	3.0	0.09167	T	-1.1	0.28497	N	0.081	0.05670	-1.0248	0.22148	T	0.023	0.09650	T	9	0.04894221	0.04413	T	0.006808	0.18010	T	0.067	0.19503	0.342	0.33464	0.32580497728	0.32196	0.0783725683417193	0.07773	0.237752420551	0.26321	0.414651274681	0.27100	T	0.028078	0.20418	T	-0.298842	0.08770	T	-0.667042	0.07799	T	0.358061403036118	0.27333	T	0.678032	0.28700	T	0.069728285	0.15302	0.06307916	0.12441	0.069728285	0.15301	0.06307916	0.12441	-3.703	0.19363	T	.	.	0.122	0.25429	B	.	.	0.508506	0.08773	5.551	0.98789090798183143	0.46253	0.58481	0.30653	D	AEFBI	0.120065	0.23406	N	-0.476882436029218	0.22841	1.222388	-0.433494643259965	0.24021	1.313097	0.277278108199118	0.18952	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.05	1.14	0.19817	0.372000	0.20199	0.053000	0.14027	0.549000	0.26987	0.999000	0.42656	0.959000	0.29258	0.011000	0.09372	0.2474:0.1746:0.0:0.578	4.321	0.10457	459	0.78817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	45.33	34	chr4	128959663	.	C	G	45.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.013e+00;DP=935;ExcessHet=0.0000;FS=62.461;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=-8.020e-01;SOR=5.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,18:127:59:0|1:128959660_A_G:59,0,3673:128959660	19	0	1	1
chr4	139071944	139071944	T	C	exonic	ELF2	.	nonsynonymous SNV	ELF2:NM_001276457:exon3:c.A268G:p.T90A	.	.	454	1060	6	2	0	10	0.00469484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	B	0.026	B	0.000	D	1.000	D	0.255	N	2.88	T	-1.003	T	0.025	T	0.325	2.106	13.00	5.87	2.371	4.285	12.407	0.057	0.00824658575127	0.0017	0.000399361	0.0013	9.61e-05	0.0008	0.0001	0.0009	0.0016	0.0022	0.0015	0.0011578	179	154602	rs146233495	0.0011	0.0011	0.0010	0.0011	0.0066	0.0010	0.0010	0.0049	0.0044	0.0002	0.0015	0.0058	0	0.0012	0.0066	0.0010	0.0016	0.0011	0.0010	0.0010	0.0011	0.0010	0.0012	0.0009	0.0009	0.0010	0.0009	0.0002	0	0.0012	0.0055	0.0002	0.0015	0.0068	0.0012	0.0024	0.0012	0.23	0.25560	T	0.507	0.10930	T	0.031	0.20130	B	0.026	0.20792	B	0.000000	0.84330	D	0.045696	0.999205	0.48079	D	1.095	0.27400	L	2.87	0.15376	T	-1.91	0.44471	N	0.194	0.28028	-1.0032	0.28992	T	0.025	0.10643	T	9	0.00868234	0.00197	T	0.008247	0.21853	T	0.057	0.16321	.	.	0.38058745637	0.37675	0.3834123978915665	0.38256	0.353098606377	0.37124	0.600565314293	0.52984	T	0.043746	0.26598	T	-0.487595	0.00670	T	-0.470839	0.25425	T	0.0136714726376095	0.00255	T	0.821218	0.48050	T	0.23002402	0.45750	0.10494853	0.25217	0.23002402	0.45750	0.10494853	0.25217	-3.81	0.22182	T	0.450391610052816	0.53430	0.513	0.65497	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.089190	0.41587	21.4	0.97264002051389442	0.33102	0.98406	0.82449	D	AEFBI	0.485034	0.52480	N	-0.0982246818786425	0.37468	2.180398	0.14168004404787	0.46703	2.912016	0.999999701500362	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.87	5.87	0.94266	4.248000	0.58549	7.924000	0.74674	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.0:0.0671:0.0:0.9329	12.407	0.54779	646	0.63441	.;.;.;.;.;.;.	.	.	.	.	.	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	642.98	34	chr4	139071944	.	T	C	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.550e-01;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-2.127e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:41,28:69:99:657,0,1046	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	1/1:0,87,0:87:99:3913,262,0,3913,262,3913	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	1/1:0,87,0:87:99:3913,262,0,3913,262,3913	0	20	0	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|1:74,28:102:99:0|1:140563137_C_G:303,0,2089:140563137	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|1:74,28:102:99:0|1:140563137_C_G:303,0,2089:140563137	1	0	20	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	1/1:0,132,0:132:99:.:.:4296,396,0,4296,396,4296	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	1/4:2,21,0,0,26:49:99:1858,894,898,1815,977,1897,1815,977,1897,1897,780,0,878,878,806	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	1/4:2,21,0,0,26:49:99:1858,894,898,1815,977,1897,1815,977,1897,1897,780,0,878,878,806	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	1/4:2,21,0,0,26:49:99:1858,894,898,1815,977,1897,1815,977,1897,1897,780,0,878,878,806	0	10	4	0
chr4	163350321	163350321	G	T	exonic	NPY5R	.	nonsynonymous SNV	NPY5R:NM_001317091:exon4:c.G48T:p.E16D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.031	B	0.01	B	0.042	N	0.740	D	0.345	N	1.16	T	-1.028	T	0.050	T	0.254	1.031	9.210	4.51	1.396	2.423	10.357	0.026	0.00723154167847	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320973552	2.061e-06	2.052e-06	1.366e-06	2.764e-06	2.709e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.709e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.196	0.27943	T	0.031	0.20130	B	0.01	0.14941	B	0.042022	0.23885	N	0.283113	0.740387	0.33816	D	0.55	0.14455	N	1.16	0.38073	T	-1.36	0.33798	N	0.347	0.40864	-1.0285	0.20940	T	0.050	0.21417	T	10	0.17128772	0.31839	T	0.007232	0.19171	T	0.026	0.05648	0.229	0.15556	0.583710156576	0.58043	0.4376065000164013	0.43677	0.40742714432	0.41602	0.381389856339	0.22453	T	0.145576	0.48277	T	-0.167208	0.25659	T	-0.477959	0.24664	T	0.42228701710701	0.29775	T	0.564244	0.19889	T	0.1272237	0.29776	0.1191614	0.28763	0.1272237	0.29776	0.1191614	0.28763	-3.685	0.19097	T	.	.	0.088	0.12607	B	.;.;.	.;.;.	1.490442	0.19171	14.13	0.99239269204467206	0.56501	0.93178	0.57529	D	AEFBI	0.359637	0.44989	N	-0.396064619801121	0.25608	1.391421	-0.237807766973251	0.30194	1.697937	0.999965082149045	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.35	4.51	0.54589	3.010000	0.49246	5.174000	0.47839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.1498:0.0:0.8502:0.0	10.357	0.43154	988	0.01987	.;.;.	.	.	.	.	.	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	1470.98	40	chr4	163350321	.	G	T	1470.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=829;ExcessHet=0.0000;FS=6.073;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-2.491e+00;SOR=1.302	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1485,0,1463	20	0	1	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	1678376	not_specified	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|1:70,24:94:99:0|1:176711631_G_C:239,0,2239:176711631	6	0	11	4
chr4	176729619	176729619	T	A	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon2:c.A275T:p.H92L,	Lymphedema, hereditary, ID, Autosomal dominant	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.0	B	0.326	N	1.000	N	0.55	N	.	.	-1.032	T	0.058	T	0.163	-1.718	0.011	2.23	0.757	2.008	7.584	0.044	0.00193043535559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.21e-06	8.209e-06	1.089e-05	5.501e-06	0.0002	4.38e-06	3.46e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.994e-06	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.375	0.16231	T	0.0	0.02946	B	0.0	0.01387	B	0.325728	0.14197	N	0.700873	1	0.08975	N	1.32	0.33002	L	.	.	.	.	.	.	0.382	0.42345	-1.0316	0.19937	T	0.058	0.24279	T	9	0.11282721	0.21177	T	0.00193	0.03430	T	.	.	0.442	0.49811	0.535584383668	0.53208	0.5922790684710431	0.59157	.	.	0.273353427649	0.06582	T	0.28374	0.65650	T	-0.150118	0.28294	T	-0.45341	0.27320	T	0.0261473948040094	0.01425	T	0.707329	0.31793	T	0.049458697	0.08786	0.04933003	0.07515	0.049458697	0.08786	0.04933003	0.07514	-3.519	0.16699	T	.	.	0.092	0.13409	B	.	.	0.896856	0.12707	9.227	0.59325546937721907	0.06198	0.41401	0.26649	N	AEFDBIJ	0.146871	0.27042	N	-0.83074745089238	0.12528	0.6112747	-0.786506417302096	0.14826	0.7767097	0.998836107901651	0.37777	0.732398	0.92422	0	0.573888	0.26702	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.69	2.23	0.27189	1.205000	0.31914	0.955000	0.22950	0.609000	0.47794	0.746000	0.29090	0.715000	0.26317	0.090000	0.17789	0.0:0.1728:0.0:0.8272	7.584	0.27150	832	0.38914	.	.	.	.	.	.	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	1221.98	37	chr4	176729619	.	T	A	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=814;ExcessHet=0.0000;FS=2.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=0.249;SOR=0.782	GT:AD:DP:GQ:PL	0/1:67,52:119:99:1236,0,1553	20	0	1	0
chr4	184678353	184678353	C	A	exonic	PRIMPOL	.	nonsynonymous SNV	PRIMPOL:NM_001345900:exon6:c.C441A:p.D147E	Myopia 22, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.292	N	0.983	N	-2.015	N	1.67	T	-0.985	T	0.013	T	0.029	1.546	11.12	2.11	0.135	0.080	2.311	0.023	0.00210208368243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.291985	0.14751	N	0.691663	0.983459	0.24883	N	-1.97	0.00207	N	1.67	0.27486	T	1.67	0.00794	N	0.098	0.12770	-0.9848	0.33879	T	0.013	0.04938	T	10	0.028689742	0.00999	T	0.002102	0.03882	T	0.026	0.05648	0.191	0.10171	0.139678290688	0.13603	0.10890438393445781	0.10819	0.0286086447257	0.02943	0.244153410196	0.03177	T	1.84E-4	0.00031	T	-0.385533	0.02874	T	-0.791568	0.02122	T	0.0467233450015724	0.04915	T	0.158484	0.01410	T	0.1488832	0.33968	0.07322685	0.15888	0.1488832	0.33968	0.07322685	0.15888	-1.855	0.03099	T	0.030985694838268095	0.00096	0.065	0.02200	B	.;.;.;.	.;.;.;.	-0.661037	0.01414	0.083	0.87702225452178462	0.17419	0.28979	0.23700	N	AEFI	0.048124	0.08179	N	-0.715003863197069	0.15600	0.7875869	-0.568580952848274	0.20315	1.093935	0.674552636988709	0.22411	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.95	2.11	0.26299	0.094000	0.14946	1.125000	0.24277	-0.644000	0.04415	0.849000	0.30428	0.994000	0.32194	0.183000	0.21389	0.5939:0.1328:0.1496:0.1237	2.311	0.03931	909	0.22467	.;.;.;.	.	.	.	.	.	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	0	0	0	0	0.02381	509.98	39	chr4	184678353	.	C	A	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e+00;DP=798;ExcessHet=0.0000;FS=2.273;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.64;ReadPosRankSum=0.315;SOR=0.405	GT:AD:DP:GQ:PL	0/1:34,25:59:99:524,0,824	20	0	1	0
chr5	1085296	1085296	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon7:c.G853A:p.V285M,	.	.	419	1101	2	0	0	2	0.000907441	.	.	3477112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.846	P	0.768	P	0.001	N	0.986	D	1.165	L	-5.32	D	0.830	D	0.917	D	0.192	3.172	16.61	2.08	1.566	3.310	3.328	0.541	0.944129005856	.	.	0.0001	0	9.019e-05	0.0001	0	7.989e-05	0	0.0004	8.41e-05	13	154602	rs747293398	4.657e-05	4.788e-05	3.679e-05	5.645e-05	0.0010	3.732e-05	3.415e-05	0.0005	0.0003	0	4.477e-05	0	2.521e-05	0	0.0010	1.889e-05	6.626e-05	0.0004	2.628e-05	2.627e-05	1.284e-05	4.034e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.001	0.78490	D	0.053	0.47336	T	0.846	0.46778	P	0.768	0.56752	P	0.001125	0.40136	N	0.208085	0.985976	0.40362	D	1.295	0.32453	L	-5.32	0.98988	D	-1.97	0.45587	N	0.337	0.37820	0.830	0.94784	D	0.917	0.97264	D	10	0.55867946	0.64664	D	0.944129	0.99608	D	0.541	0.80842	.	.	0.740130705384	0.73780	0.7483029196823969	0.74776	0.962890128784	0.73069	0.816245436668	0.84452	D	0.641902	0.89029	D	-0.111731	0.34484	T	-0.0877514	0.64331	T	0.228951871395111	0.21901	T	0.975436	0.91320	D	0.18993297	0.40556	0.22167252	0.46986	0.18993297	0.40556	0.22167252	0.46985	-9.357	0.69965	D	.	.	0.145	0.31906	B	.	.	4.049971	0.60023	24.2	0.99879866768067938	0.95653	0.42887	0.26977	N	AEFGBI	0.106355	0.21223	N	0.180772214695227	0.50278	3.219224	0.140656824565054	0.46649	2.907496	0.989901975119698	0.31972	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.31	2.08	0.26079	2.770000	0.47346	-6.026000	0.01519	0.597000	0.34315	0.996000	0.39380	0.000000	0.08366	0.871000	0.41478	0.0:0.5243:0.0:0.4757	3.328	0.06660	976	0.04745	Amino acid permease/ SLC12A domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	34	chr5	1085296	.	C	T	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.218e+00;DP=859;ExcessHet=0.0000;FS=6.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=-9.940e-01;SOR=1.147	GT:AD:DP:GQ:PL	0/1:86,65:151:99:1461,0,2182	20	0	1	0
chr5	1216868	1216868	C	T	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon8:c.C1096T:p.R366W,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	0	1520	2	0	0	2	0.000657462	.	.	2021948	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.002	B	0.708	N	1.000	N	-1.01	N	-0.85	T	-0.973	T	0.141	T	0.135	-0.275	2.682	3.58	0.690	0.137	7.215	0.119	0.072145016178	7.7e-05	.	1.652e-05	9.628e-05	0	0	0	1.505e-05	0	0	1.29e-05	2	154602	rs371553611	3.011e-05	3.01e-05	3.404e-05	2.614e-05	8.961e-05	2.282e-05	2.033e-05	2.455e-05	2.143e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	3.327e-05	3.312e-05	0	3.284e-05	3.283e-05	2.568e-05	4.033e-05	7.234e-05	1.26e-05	7.98e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	2.939e-05	0	0	0.226	0.18562	T	0.194	0.28120	T	0.0	0.02946	B	0.002	0.06944	B	0.707702	0.06240	N	1.119860	1	0.08975	N	-1	0.01172	N	-0.85	0.74371	T	1.04	0.01332	N	0.212	0.23632	-0.9734	0.36474	T	0.141	0.46016	T	10	0.12520134	0.23789	T	0.072145	0.71454	D	0.119	0.33137	.	.	0.295974979623	0.29207	0.46599499180527054	0.46518	0.210598802773	0.23551	0.298747777939	0.10214	T	0.072603	0.34494	T	-0.332203	0.05946	T	-0.533435	0.18944	T	0.0510780614880742	0.05689	T	0.378362	0.09086	T	0.17095008	0.37701	0.05543475	0.09722	0.17095008	0.37700	0.05543475	0.09721	-8.299	0.63089	D	.	.	0.057	0.00533	B	.	.	1.275947	0.16750	12.74	0.57214529390518343	0.05720	0.00777	0.03195	N	AEFGBI	0.150316	0.27458	N	-1.30132610538646	0.03660	0.1639041	-1.21143796625086	0.05725	0.2736108	0.994297367744793	0.33572	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.85	3.58	0.40133	0.166000	0.16400	0.784000	0.21507	-0.982000	0.01892	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.0:0.1994:0.0:0.8006	7.215	0.25131	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	0.02381	2736.98	46	chr5	1216868	.	C	T	2736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=1260;ExcessHet=0.0000;FS=2.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.019;SOR=0.879	GT:AD:DP:GQ:PL	0/1:115,112:227:99:2751,0,2556	20	0	1	0
chr5	1221218	1221218	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon11:c.G1606A:p.V536M,	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	.	1	1516	5	0	0	5	0.00164636	.	.	984670	Neutral_1_amino_acid_transport_defect|not_provided	MONDO:MONDO:0009324,MedGen:C0018609,OMIM:234500,Orphanet:2116|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.988	D	0.816	P	0.001	D	0.876	D	3.105	M	-0.93	T	0.425	D	0.579	D	0.318	1.471	10.86	2.98	0.432	1.185	15.6	0.419	0.112026900132	0.0004	0.000798722	0.0003	0.0009	0.0004	0	0.0002	0.0002	0	0.0002	0.0002393	37	154602	rs145250153	0.0001	0.0001	0.0001	0.0001	0.0035	0.0001	0.0001	0.0023	0.0019	0.0006	0.0003	3.826e-05	2.519e-05	5.618e-05	0.0035	8.363e-05	0.0002	0.0002	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0002	0	0.0002	0	0.0034	0.0002	0.0009	0.0004	0.143	0.25355	T	0.05	0.48080	T	0.988	0.62325	D	0.816	0.58888	P	0.000796	0.41772	D	0.197004	0.875544	0.35647	D	3.435	0.92070	M	-0.93	0.75215	T	-1.06	0.27669	N	0.35	0.39153	0.425	0.89465	D	0.579	0.84840	D	10	0.13770604	0.26194	T	0.112027	0.79002	D	0.419	0.72855	.	.	0.653542758682	0.65065	0.7271567388570918	0.72659	0.674123437688	0.59625	0.331592530012	0.15175	T	0.310985	0.68290	T	-0.30294	0.08386	T	-0.284633	0.46328	T	0.062564495471079	0.07567	T	0.971803	0.89778	D	0.30336052	0.53204	0.26478866	0.52303	0.30336052	0.53204	0.26478866	0.52302	-9.136	0.68568	D	0.6552753228967908	0.72798	0.141	0.31023	B	.	.	3.263963	0.44646	22.0	0.99633316047666143	0.76203	0.81657	0.41017	D	AEFGBI	0.375907	0.46026	N	0.263913042730704	0.54332	3.598887	0.111475274824766	0.45135	2.782076	0.99251740830081	0.32867	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.81	2.98	0.33575	0.724000	0.25624	5.701000	0.49379	-0.171000	0.11205	0.891000	0.31220	1.000000	0.68203	0.006000	0.07323	0.0:0.3891:0.6109:0.0	15.6	0.76362	929	0.16858	.	.	.	.	.	.	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	3458.11	33	chr5	1221218	.	G	A	3458.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.12;DP=1029;ExcessHet=0.1072;FS=3.310;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=2.07;SOR=0.795	GT:AD:DP:GQ:PL	0/1:78,75:153:99:1812,0,1851	19	0	2	0
chr5	16481072	16481072	C	T	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_019000:exon3:c.G184A:p.V62M	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	.	1	1502	19	0	0	19	0.00628515	.	.	244479	Inborn_genetic_diseases|Neuropathy,_hereditary_sensory_and_autonomic,_type_2B|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013142,MedGen:C2751092,OMIM:613115,Orphanet:970|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.981	D	0.000	D	0.964	D	0.695	N	0.83	T	-0.768	T	0.178	T	0.21	3.397	17.47	5.08	1.520	0.217	12.951	0.170	.	0.0033	0.00159744	0.0033	0.0009	0.0051	0	0.0018	0.0042	0.0045	0.0023	0.0034411	532	154602	rs143878016	0.0048	0.0048	0.0049	0.0047	0.0055	0.0047	0.0046	0.0054	0.0053	0.0008	0.0032	0.0004	0	0.0031	0.0024	0.0055	0.0045	0.0029	0.0030	0.0030	0.0031	0.0028	0.0050	0.0027	0.0027	0.0045	0.0044	0.0007	0	0.0033	0.0006	0	0.0015	0.0034	0.0050	0.0019	0.0027	0.066	0.36113	T	0.109	0.37449	T	0.996	0.77913	D	0.923	0.75168	D	0.000098	0.51296	D	0.135280	0.963721	0.38365	D	.	.	.	0.74	0.50459	T	-1.19	0.30346	N	0.267	0.30233	-0.7685	0.56940	T	0.178	0.52412	T	10	0.011584997	0.00253	T	.	.	.	0.170	0.43303	.	.	0.472023113445	0.46832	0.4008687952848419	0.40001	1.01671924767	0.74975	0.599503755569	0.52834	T	0.022619	0.17407	T	-0.518749	0.00447	T	-0.514616	0.20843	T	0.0150975185188845	0.00327	T	0.919808	0.70989	D	0.12491093	0.29296	0.14568304	0.34542	0.14728221	0.33676	0.16377048	0.37972	-7.131	0.54984	T	0.3694394751555748	0.46511	0.132	0.36455	B	.;.	.;.	3.980073	0.58499	24.0	0.99853363774972514	0.93279	0.31720	0.24408	N	AEFDGBI	0.162037	0.28817	N	0.229326786743082	0.52624	3.435491	0.225926690679091	0.51292	3.312884	0.999990147161625	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.95	5.08	0.68373	0.214000	0.17331	4.055000	0.41540	0.599000	0.40250	0.097000	0.22731	0.999000	0.35428	0.997000	0.79791	0.0:0.8662:0.0:0.1338	12.951	0.57797	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2016.11	41	chr5	16481072	.	C	T	2016.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.620e-01;DP=875;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.758;SOR=0.725	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1246,0,978	19	0	2	0
chr5	17655153	17655153	C	T	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.G386A:p.R129H,	.	.	933	584	5	0	0	5	0.00426257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0058399	152	26028	rs139670564	0.0078	0.0062	0.0075	0.0080	0.0101	0.0075	0.0074	0.0082	0.0080	0.0008	0.0059	0.0041	0	0.0141	0.0101	0.0085	0.0053	0.0100	0.0058	0.0058	0.0058	0.0058	0.0115	0.0055	0.0053	0.0091	0.0082	0.0007	0	0.0036	0.0014	0	0.0146	0.0068	0.0083	0.0052	0.0115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011746377	0.00255	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.923508	0.72088	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49769	B	.	.	1.646546	0.21009	15.01	0.89699310346711458	0.19023	0.51438	0.28895	D	AEFDGI	.	.	.	.	.	.	.	.	.	0.0413807614660387	0.14481	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.103547	0.22722	0.547	-0.473	0.11508	4.108000	0.57555	-0.502000	0.08796	-0.251000	0.07141	1.000000	0.71638	0.002000	0.18203	0.053000	0.15439	0.3309:0.669:0.0:0.0	5.332	0.15246	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	322.98	14	chr5	17655153	.	C	T	322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=539;ExcessHet=0.0000;FS=5.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.99;MQRankSum=1.66;QD=11.14;ReadPosRankSum=0.592;SOR=1.535	GT:AD:DP:GQ:PL	0/1:16,13:29:99:337,0,367	20	0	1	0
chr5	40945369	40945369	G	T	splicing	C7	NM_000587:exon7:c.738+1G>T	.	.	C7 deficiency	.	.	.	.	.	.	.	.	1.0000	0.808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.193	9.848	4.74	2.633	3.350	13.421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.58e-06	6.569e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.402832	0.90465	31	0.98732631747622668	0.45378	0.92436	0.55708	D	AEFI	.	.	.	0.86627520560063	0.90014	10.21552	0.653411971661367	0.78863	6.963035	0.147871118436629	0.17390	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.950476	0.61971	4.74	4.74	0.59717	3.562000	0.53522	9.425000	0.80773	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0:0.0:1.0:0.0	13.421	0.60447	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1238.98	33	chr5	40945369	.	G	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=765;ExcessHet=0.0000;FS=2.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.21;ReadPosRankSum=1.06;SOR=1.063	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1253,0,654	20	0	1	0
chr5	56116697	56116697	C	T	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon9:c.G883A:p.D295N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	1.0	D	0.000	D	1.000	D	1.645	L	2.26	T	-0.061	T	0.524	D	0.252	5.427	35	5.3	2.486	6.368	19.003	0.356	0.0727687640788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.91255	D	0.095	0.92824	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999882	0.52935	D	.	.	.	2.26	0.75325	T	-3.7	0.75935	D	0.803	0.95956	-0.0609	0.80974	T	0.524	0.82268	D	10	0.8243815	0.81625	D	0.072769	0.71618	D	0.356	0.67691	.	.	0.677337262006	0.67459	0.38723982281305713	0.38638	0.781431340494	0.65314	0.644567966461	0.59214	T	0.060252	0.36234	T	0.0105389	0.53098	T	-0.222638	0.52482	T	0.997116327285767	0.90803	D	0.939106	0.77145	D	0.44487065	0.63715	0.39209393	0.63963	0.44487065	0.63716	0.39209393	0.63963	-13.068	0.89641	D	.	.	0.852	0.79861	P	.;.;.	.;.;.	4.990201	0.82727	27.9	0.99918093701733934	0.98518	0.90953	0.52575	D	ALL	0.830166	0.74894	D	0.703678293308031	0.79873	7.170749	0.701732088467683	0.82508	7.784938	1.0	0.98316	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.52698	0.09003	0	.	.	5.3	5.3	0.74745	6.673000	0.74320	7.489000	0.59345	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.003	0.92820	305	0.87738	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing 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	chr5	56116697	.	C	T	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.116;DP=819;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=-1.353e+00;SOR=0.846	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1174,0,1120	20	0	1	0
chr5	80058720	80058720	G	A	exonic	THBS4	.	nonsynonymous SNV	THBS4:NM_001306214:exon5:c.G389A:p.R130Q	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.873	P	0.239	B	0.000	D	0.997	D	1.39	L	1.54	T	-1.109	T	0.067	T	0.348	3.893	19.79	5.75	2.712	5.437	18.936	0.095	0.0112504933242	.	0.000199681	3.296e-05	0	0	0.0003	0	0	0	6.058e-05	3.23e-05	5	154602	rs553602331	3.01e-05	3.01e-05	2.859e-05	3.163e-05	0.0007	2.282e-05	2.032e-05	0.0002	0.0001	0	2.236e-05	0	0.0001	0	0.0007	1.889e-05	8.279e-05	0.0001	1.97e-05	1.969e-05	2.57e-05	1.343e-05	0.0004	5.24e-06	2.45e-06	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	0	0.0005	0	0.213	0.19430	T	0.301	0.20293	T	0.873	0.47975	P	0.239	0.38566	B	0.000009	0.62929	D	0.108147	0.994217	0.43243	D	1.61	0.41143	L	1.54	0.30133	T	-0.7	0.19933	N	0.465	0.51851	-1.1089	0.03166	T	0.067	0.27399	T	10	0.184528	0.33830	T	0.01125	0.28682	T	0.095	0.27398	0.439	0.49321	0.512424132817	0.50885	0.28823929144392135	0.28736	0.702899583862	0.61236	0.344067811966	0.17044	T	0.045674	0.27194	T	-0.327429	0.06309	T	-0.415957	0.31539	T	0.238932907324009	0.22370	T	0.907309	0.67223	D	0.11051659	0.26122	0.122108504	0.29457	0.11051659	0.26122	0.122108504	0.29456	-2.939	0.09538	T	.	.	0.078	0.08417	B	.;.	.;.	4.662631	0.74439	26.2	0.99874892197344467	0.95244	0.91066	0.52793	D	AEFDBI	0.490048	0.52770	N	0.360993799578604	0.59322	4.110707	0.468389314571669	0.65905	4.88337	0.999999765341789	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.75	5.75	0.90390	5.867000	0.69350	9.801000	0.81695	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.936	0.92560	629	0.65079	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain;Thrombospondin/cartilage oligomeric matrix protein, coiled-coil 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	1071.98	36	chr5	80058720	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.070e-01;DP=813;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=1.13;SOR=0.559	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1086,0,1409	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	0/2:29,0,53,0:82:99:1963,2050,3189,0,1139,978,2050,3189,1139,3189	7	0	1	0
chr5	81042984	81042984	-	TA	splicing	RASGRF2	NM_006909:exon2:c.395+1->TA	.	.	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.092e-05	0	0	0	0	1.932e-05	0	0	6.5e-06	1	154602	rs762918682	8.962e-06	8.893e-06	8.228e-06	9.704e-06	0.0005	5e-06	3.85e-06	0.0001	7.588e-05	3.007e-05	2.266e-05	0	0	0	0.0005	4.527e-06	3.336e-05	1.185e-05	6.571e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5041.94	41	chr5	81042984	.	G	GTA	5041.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.468e+00;DP=950;ExcessHet=0.0000;FS=2.196;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.75;ReadPosRankSum=0.975;SOR=0.870	GT:AD:DP:GQ:PL	0/1:109,134:243:99:5056,0,4010	20	0	1	0
chr5	88206475	88206475	G	A	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001349405:exon5:c.C77T:p.A26V	.	.	713	803	6	0	0	6	0.00372208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.202	B	0.034	B	0.000	D	1.000	D	2.11	M	.	.	-0.795	T	0.171	T	0.793	2.697	14.98	5.51	2.596	6.983	19.422	0.165	0.0072665829932	0.0057	0.00219649	0.0051	0.0019	0.0022	0	0.0008	0.0077	0.0046	0.0051	0.0041073	635	154602	rs62369771	0.0066	0.0067	0.0066	0.0066	0.0076	0.0065	0.0064	0.0075	0.0075	0.0008	0.0024	0.0024	2.541e-05	0.0014	0.0064	0.0076	0.0063	0.0047	0.0043	0.0043	0.0046	0.0040	0.0073	0.0040	0.0039	0.0068	0.0066	0.0012	0.0055	0.0035	0.0023	0.0002	0.0001	0	0.0073	0.0058	0.0048	0.417	0.25055	T	0.419	0.30143	T	0.202	0.29746	B	0.034	0.22546	B	0.000001	0.84330	D	0.095843	1	0.81001	D	2.33	0.66821	M	.	.	.	-1.89	0.44094	N	0.653	0.66358	-0.7949	0.55444	T	0.171	0.51181	T	9	0.008586347	0.00194	T	0.007267	0.19280	T	0.165	0.42395	.	.	0.0884992946249	0.08302	0.6433211322886058	0.64267	0.248921944762	0.27465	0.683779478073	0.64812	T	0.014186	0.23310	T	-0.117284	0.33568	T	0.0635991	0.74484	D	0.0249990377957096	0.01273	T	0.849515	0.54741	T	0.2779578	0.50851	0.28916922	0.54936	0.2779578	0.50851	0.28916922	0.54935	-7.777	0.59540	D	.	.	0.139	0.49711	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362878	0.46435	22.3	0.97995278038187272	0.37431	0.99117	0.91475	D	AEFBI	0.870694	0.79176	D	0.111682650628339	0.47007	2.932562	0.27609114928051	0.54148	3.581	0.999999602734535	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	7.345000	0.78576	10.003000	0.83052	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.422	0.94717	767	0.49651	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	790.68	33	chr5	88206475	.	G	A	790.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.641;DP=614;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.134;SOR=0.653	GT:AD:DP:GQ:PL	0/1:21,16:37:99:346,0,504	18	0	3	0
chr5	95450253	95450253	C	T	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon10:c.C1330T:p.R444C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.966	D	0.000	D	0.996	D	2.125	M	1.86	T	-0.863	T	0.172	T	0.632	4.482	24.0	5.71	2.687	1.581	18.629	0.139	0.0225169154418	.	.	1.658e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs201358737	1.78e-05	1.779e-05	9.537e-06	2.615e-05	4.484e-05	1.238e-05	1.052e-05	1.175e-05	9.55e-06	0	4.484e-05	0	2.528e-05	0	0	1.799e-05	4.973e-05	0	6.573e-06	6.568e-06	1.285e-05	0	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.000119	0.50451	D	0.127712	0.995506	0.42722	D	.	.	.	1.86	0.24285	T	-4.17	0.89152	D	0.189	0.20660	-0.8625	0.51082	T	0.172	0.51405	T	10	0.2861668	0.46199	T	0.022517	0.45416	T	0.139	0.37390	0.241	0.17371	0.45461005305	0.45086	0.3429401951790748	0.34207	0.547469509892	0.51713	0.47903573513	0.35924	T	0.146298	0.48384	T	-0.108734	0.34978	T	-0.286309	0.46154	T	0.985092580318451	0.76191	D	0.783622	0.42065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.54961	B	.;.	.;.	4.728876	0.76146	26.5	0.99887925427706381	0.96281	0.80133	0.39853	D	AEFBI	0.417508	0.48552	N	0.681438311983813	0.78416	6.867296	0.666931026350093	0.79878	7.176185	0.997087668261988	0.35260	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	1.670000	0.37118	2.746000	0.34499	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.629	0.91310	610	0.67008	.;.	.	.	.	.	.	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	862.98	34	chr5	95450253	.	C	T	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=779;ExcessHet=0.0000;FS=1.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=-2.620e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:52,42:94:99:877,0,1157	20	0	1	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	0/1:70,58,0,0:128:99:1204,0,1619,1414,1793,3206,1414,1793,3206,3206	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	0/1:41,33,0:74:99:1177,0,1552,1302,1651,2953	3	5	12	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.003	B	0.004	B	0.207	N	0.988	N	0.55	N	-1.75	D	-0.897	T	0.264	T	0.158	2.319	13.71	-0.052	0.043	0.698	4.261	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-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	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	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	785.45	37	chr5	119499449	.	T	C	785.45	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.748e+00;DP=1279;ExcessHet=2.5830;FS=149.385;InbreedingCoeff=-0.1971;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.58;SOR=9.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,16:83:16:0|1:119499447_G_C:16,0,2104:119499447	14	0	7	0
chr5	126577158	126577158	T	C	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001182:exon6:c.A571G:p.I191V	Epilepsy, pyridoxine-dependent, Autosomal recessive	YES	2	1518	2	0	0	2	0.000658328	.	.	389123	Abnormal_brain_morphology	Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.635	M	-1.61	D	0.602	D	0.727	D	0.669	3.976	20.3	5.2	2.308	7.517	15.184	0.724	0.10426394574	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1060499755	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.034	0.63918	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.875	0.83380	M	-1.61	0.82254	D	-0.98	0.26422	N	0.866	0.88466	0.602	0.91926	D	0.727	0.90665	D	10	0.8503511	0.84211	D	0.104264	0.77875	D	0.724	0.90280	0.735	0.86806	0.93445853736	0.93378	0.6248088545988907	0.62413	0.566867878538	0.52963	0.678668320179	0.64078	T	0.076319	0.73990	T	0.215169	0.75318	D	0.0712986	0.74996	D	0.952938377857208	0.63909	D	0.987701	0.96624	D	0.6986181	0.77981	0.5837223	0.75864	0.65031445	0.75382	0.5338997	0.73068	-6.528	0.58269	T	.	.	0.290	0.59600	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.302583	0.65709	24.9	0.99878451779679911	0.95491	0.98028	0.78995	D	AEFDBIJ	0.941856	0.94569	D	0.742586401052079	0.82422	7.758376	0.66444347764043	0.79690	7.136048	0.999999512775489	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.739000	0.83905	7.820000	0.69717	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.0:0.0:0.0:1.0	15.184	0.72671	645	0.63593	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1577.98	37	chr5	126577158	.	T	C	1577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.077e+00;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.170;SOR=0.737	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1592,0,1272	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|2:85,0,31:116:99:0|1:128288437_C_G:458,709,3629,0,2920,2828:128288437	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|2:85,0,31:116:99:0|1:128288437_C_G:458,709,3629,0,2920,2828:128288437	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|1:86,31:117:99:0|1:128288437_C_G:455,0,2860:128288437	1	0	11	9
chr5	128288443	128288443	C	T	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752A:p.C2251Y,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.996	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.409	D	0.906	D	0.995	4.376	23.1	4.86	2.698	7.609	18.546	0.824	0.123461768064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	0.999999	0.58761	D	3.695	0.94570	H	-2.76	0.90848	D	-7.86	0.96085	D	0.964	0.97535	0.409	0.89235	D	0.906	0.96895	D	10	0.9834906	0.98490	D	0.123462	0.80464	D	0.824	0.94390	0.946	0.99325	0.934085895406	0.93340	0.9903539687419001	0.99030	1.12556060977	0.78443	0.884529829025	0.94562	D	0.926386	0.98721	D	0.498134	0.94243	D	0.477758	0.94166	D	0.998788297176361	0.95158	D	0.972403	0.89999	D	0.7648719	0.81741	0.7838173	0.87263	0.7648719	0.81743	0.7838173	0.87263	-11.076	0.80073	D	0.8184896870235474	0.89198	0.994	0.95199	P	.;.;.	.;.;.	5.178057	0.86807	29.0	0.99745666006938727	0.83852	0.99610	0.97961	D	AEFBI	0.953479	0.96980	D	0.90111024418429	0.91813	11.07861	0.83141225828265	0.91884	11.11993	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	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like 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	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,31:119:99:0|1:128288437_C_G:449,709,3692,0,2983,2892:128288437	18	0	2	0
chr5	128288443	128288443	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6752C:p.C2251S,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.991	D	0.171	N	1.000	D	3.06	M	-2.76	D	0.407	D	0.906	D	0.989	4.535	24.5	4.86	2.698	7.609	18.546	0.817	0.114977268281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	.	.	.	0.991	0.64070	D	0.991	0.79672	D	0.171149	0.03111	N	1.846500	0.999998	0.58761	D	3.35	0.91085	M	-2.76	0.90848	D	-7.23	0.94300	D	0.94	0.94668	0.407	0.89195	D	0.906	0.96872	D	10	0.9754184	0.97290	D	0.114977	0.79401	D	0.817	0.94123	0.906	0.98027	0.933244731319	0.93255	0.9847937345538913	0.98472	0.753181062294	0.63881	0.828525781631	0.86336	D	0.925487	0.98698	D	0.484054	0.93833	D	0.457534	0.93755	D	0.9776571393013	0.71947	D	0.957071	0.83814	D	0.7416861	0.80389	0.7407168	0.84674	0.7416861	0.80390	0.7407168	0.84675	-13.457	0.91158	D	0.8639128091276882	0.92661	0.998	0.97755	P	.;.;.	.;.;.	5.034829	0.83769	28.1	0.99492420662632319	0.67516	0.99662	0.98450	D	AEFBI	0.954903	0.97235	D	0.897885656281263	0.91654	10.99508	0.829146643970687	0.91743	11.04352	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	7.674000	0.64943	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	873.43	41	chr5	128288443	.	C	T,G	873.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.547e+00;DP=1487;ExcessHet=0.3300;FS=253.302;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.60;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:88,0,31:119:99:0|1:128288437_C_G:449,709,3692,0,2983,2892:128288437	18	0	2	0
chr5	128288444	128288444	A	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.T6751C:p.C2251R,	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.996	D	0.171	N	1.000	D	3.06	M	-2.78	D	0.348	D	0.898	D	0.995	4.054	20.8	4.72	2.110	9.087	14.659	0.854	0.20491362062	7.7e-05	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377678254	0	4.109e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	0.997	0.70673	D	0.996	0.84481	D	0.171149	0.03111	N	1.846500	1	0.81001	D	3.695	0.94570	H	-2.78	0.90962	D	-8.67	0.97580	D	0.973	0.99015	0.348	0.88301	D	0.898	0.96618	D	10	0.9484539	0.94175	D	0.204914	0.86956	D	0.854	0.95507	.	.	0.953610712289	0.95311	0.9912745761668067	0.99122	0.944026267107	0.72331	0.878701329231	0.93785	D	0.925175	0.98690	D	0.504643	0.94436	D	0.487108	0.94357	D	0.999381065368652	0.97194	D	0.950805	0.81197	D	0.9238388	0.93623	0.88105124	0.93635	0.9238388	0.93624	0.88105124	0.93635	-12.745	0.88285	D	0.8721025990884144	0.93250	0.998	0.97573	P	.;.;.	.;.;.	5.128776	0.85820	28.7	0.9978510937982501	0.87131	0.99720	0.98948	D	AEFBI	0.954903	0.97235	D	0.872216392941965	0.90336	10.35719	0.795737407634473	0.89493	9.998643	0.999999875885111	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.72	4.72	0.59248	9.325000	0.96006	11.217000	0.89620	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.659	0.68458	733	0.53988	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;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	0.04762	540.11	41	chr5	128288444	.	A	G	540.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.714e+00;DP=1480;ExcessHet=0.1072;FS=175.858;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.66;ReadPosRankSum=2.65;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,31:119:99:0|1:128288437_C_G:449,0,2892:128288437	19	0	2	0
chr5	132575843	132575843	A	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.A280C:p.I94L,	Nijmegen breakage syndrome-like disorder	YES	9	1496	15	2	0	19	0.0063102	.	.	133469	not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|Familial_cancer_of_breast	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.003	B	0.154	N	1.000	D	0.49	N	3.34	T	-0.943	T	0.006	T	0.223	2.868	15.56	-10.2	-1.969	-0.039	11.719	0.071	0.00370107637619	0.0035	0.00359425	0.0035	0.0005	0.0027	0.0005	0.0021	0.0038	0.0033	0.0067	0.0036416	563	154602	rs28903085	0.0046	0.0046	0.0046	0.0046	0.0064	0.0045	0.0044	0.0051	0.0050	0.0008	0.0027	0.0051	7.572e-05	0.0010	0.0064	0.0050	0.0044	0.0055	0.0032	0.0032	0.0033	0.0031	0.0050	0.0029	0.0029	0.0045	0.0044	0.0009	0	0.0029	0.0058	0	0.0006	0.0204	0.0050	0.0038	0.0050	0.355	0.12109	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.154400	0.17862	N	0.624374	1	0.81001	D	0.705	0.18577	N	3.34	0.06063	T	-1.12	0.28906	N	0.173	0.18512	-0.9428	0.42169	T	0.006	0.01944	T	10	0.0056197047	0.00125	T	0.003701	0.08558	T	0.071	0.20720	0.479	0.55823	0.225215365344	0.22153	0.4625633739563243	0.46174	.	.	0.303806602955	0.10971	T	0.062857	0.32026	T	-0.591207	0.00165	T	-0.618975	0.11265	T	0.003923648792296	0.00042	T	0.712729	0.32446	T	0.069781214	0.15317	0.052480403	0.08654	0.060842693	0.12531	0.061767086	0.11978	-4.37	0.29147	T	0.14829878222634302	0.17253	0.069	0.06617	B	.;.	.;.	0.216433	0.05992	2.434	0.85440592474170685	0.15894	0.13966	0.18150	N	AEFGBI	0.161992	0.28812	N	-1.43382704564989	0.02347	0.103534	-1.46262742958979	0.02658	0.1226273	0.964669951324794	0.28776	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	-10.2	0.00305	-0.012000	0.12637	-0.471000	0.08978	-0.562000	0.04833	0.026000	0.20160	0.000000	0.08366	0.981000	0.58702	0.1954:0.0:0.6292:0.1754	11.719	0.50934	820	0.40914	Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	858.98	34	chr5	132575843	.	A	C	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.766;DP=757;ExcessHet=0.0000;FS=3.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-1.410e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/1:34,36:70:99:873,0,779	20	0	1	0
chr5	132864353	132864353	G	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon1:c.C181G:p.L61V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.9	P	0.343	B	0.004	N	1.000	N	2.52	M	0.19	T	-0.826	T	0.190	T	0.072	2.169	13.21	3.18	0.380	2.346	6.399	0.148	0.0193298004431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.099	0.38891	T	0.9	0.49598	P	0.343	0.42509	B	0.003935	0.34318	N	0.311977	0.999995	0.08975	N	2.42	0.70002	M	0.19	0.60236	T	-0.72	0.20358	N	0.157	0.16308	-0.8257	0.53575	T	0.190	0.54108	T	10	0.2955783	0.47126	T	0.01933	0.41663	T	0.148	0.39182	0.377	0.39156	0.708705863831	0.70616	0.19792167272459063	0.19709	0.0415351482305	0.04460	0.339318692684	0.16335	T	0.456861	0.79546	T	-0.199135	0.20931	T	-0.52382	0.19909	T	0.453734338283539	0.30934	T	0.566043	0.20025	T	0.07196072	0.15972	0.080344625	0.18168	0.07196072	0.15972	0.080344625	0.18167	-3.41	0.15191	T	.	.	0.077	0.06295	B	.	.	2.312643	0.29604	18.18	0.99155670109324467	0.53931	0.89090	0.49350	D	AEFDBI	0.238694	0.36078	N	0.0574970633272622	0.44489	2.721939	0.0374256184061307	0.41469	2.491804	0.99991686312002	0.45857	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.02	3.18	0.35615	2.648000	0.46313	4.521000	0.43687	-0.140000	0.12423	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.2177:0.1305:0.6517:0.0	6.399	0.20829	902	0.24074	.	.	.	.	.	.	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	0.07143	95.45	33	chr5	132864353	.	G	C	95.45	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.919e+00;DP=1050;ExcessHet=0.3300;FS=217.816;InbreedingCoeff=-0.0678;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.30;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,15:90:38:0|1:132864353_G_C:38,0,2662:132864353	18	0	3	0
chr5	136029067	136029067	C	A	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon1:c.C12A:p.F4L,	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	0.710	N	1.000	N	0.55	N	-2.65	D	-0.471	T	0.510	D	0.063	-0.272	2.695	2.08	0.763	0.125	5.047	0.225	0.110848426091	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270971938	1.454e-06	8.893e-06	1.436e-06	1.473e-06	2.823e-05	2.4e-07	9e-08	.	.	0	2.823e-05	0	0	0	0	9.292e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.558	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.710024	0.06252	N	1.171980	1	0.08975	N	0	0.06538	N	-2.65	0.90210	D	-0.64	0.18670	N	0.05	0.02179	-0.4714	0.69676	T	0.510	0.81580	D	10	0.121723264	0.23081	T	0.110848	0.78839	D	0.225	0.52323	0.449	0.50957	0.792803406161	0.79087	0.18336940747617894	0.18255	0.048090025717	0.05242	0.756882071495	0.75465	T	0.297197	0.66980	T	-0.126902	0.31997	T	-0.420063	0.31068	T	0.138344089654115	0.16131	T	0.382862	0.09330	T	0.15850629	0.35658	0.13841337	0.33055	0.15850629	0.35657	0.13841337	0.33055	0.029	0.00339	T	.	.	0.173	0.37969	B	.	.	1.671046	0.21307	15.14	0.72885792497547675	0.10130	0.15305	0.18846	N	ALL	0.062828	0.12101	N	-0.813628767404861	0.12962	0.6353039	-0.780829744128659	0.14965	0.7847063	0.999999999997054	0.74766	0.764865	0.99124	0	0.628146	0.54582	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	4.35	2.08	0.26079	-0.114000	0.10729	0.186000	0.15687	0.454000	0.21428	0.005000	0.17040	0.034000	0.21380	0.129000	0.19529	0.0:0.6157:0.2197:0.1646	5.047	0.13827	787	0.46738	.	.	.	.	.	.	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	809.98	34	chr5	136029067	.	C	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.140e-01;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.616;SOR=0.638	GT:AD:DP:GQ:PL	0/1:28,36:64:99:824,0,611	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|1:133,20:153:17:0|1:138386225_T_C:17,0,4688:138386225	16	0	4	1
chr5	140538215	140538215	A	G	exonic	ANKHD1;ANKHD1-EIF4EBP3	.	nonsynonymous SNV	ANKHD1:NM_017747:exon32:c.A7358G:p.N2453S	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.989	D	0.958	D	0.000	D	1.000	D	1.735	L	1.73	T	-0.775	T	0.183	T	0.12	3.103	16.37	4.36	2.333	8.709	11.888	0.146	0.0230007109082	0.0031	0.00199681	0.0009	0.0061	0.0005	0	0	0.0006	0	0.0002	0.0008667	134	154602	rs111893699	0.0004	0.0004	0.0004	0.0004	0.0070	0.0004	0.0004	0.0062	0.0059	0.0070	0.0009	0.0003	0	3.744e-05	0.0036	0.0002	0.0012	0.0002	0.0020	0.0020	0.0021	0.0019	0.0062	0.0018	0.0018	0.0056	0.0054	0.0062	0	0.0017	0	0	0	0.0034	0.0002	0.0009	0.0002	0.038	0.58626	D	0.411	0.14500	T	0.959	0.55135	D	0.935	0.67021	D	0.000000	0.84330	D	0.000000	0.993691	0.42022	D	1.78	0.46185	L	-0.37	0.70133	T	-1.63	0.61129	N	0.511	0.54234	-0.7748	0.56592	T	0.183	0.53057	T	10	0.0074103773	0.00168	T	0.023001	0.45934	T	0.146	0.38789	.	.	0.51934374132	0.51577	0.6156560191690597	0.63771	0.83950470327	0.67976	0.509030818939	0.40086	T	0.043081	0.28208	T	-0.415408	0.01831	T	-0.365756	0.37384	T	0.0287620679148853	0.01801	T	0.985001	0.95043	D	0.13582772	0.31510	0.14967677	0.35330	0.13582772	0.31510	0.14967677	0.35329	-2.495	0.05747	T	.	.	0.109	0.36416	B	.;.;.;.;.;.	.;.;.;.;.;.	3.800706	0.54757	23.5	0.99780153710428798	0.86693	0.98807	0.87109	D	AEFBI	0.900865	0.84690	D	0.447333253201535	0.64053	4.651281	0.522144457008853	0.69481	5.366792	0.999997982895296	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.36	0.51643	5.984000	0.70228	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9307:0.0:0.0693:0.0	11.888	0.51893	196	0.92420	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2277.98	33	chr5	140538215	.	A	G	2277.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=888;ExcessHet=0.0000;FS=0.521;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.515;SOR=0.742	GT:AD:DP:GQ:PL	0/1:101,95:196:99:2292,0,2208	20	0	1	0
chr5	140870905	140870905	G	A	exonic	PCDHA11	.	nonsynonymous SNV	PCDHA11:NM_018902:exon1:c.G1802A:p.G601D	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.2	M	0.79	T	-0.109	T	0.358	T	0.634	2.481	14.26	3.91	1.018	4.277	12.766	0.452	0.123524857825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	1	0.81001	D	3.055	0.86842	M	0.79	0.49068	T	-6.66	0.92302	D	0.647	0.65844	-0.1093	0.79884	T	0.358	0.72030	T	9	0.93243444	0.92580	D	0.123525	0.80471	D	0.452	0.75211	0.927	0.98806	0.868164080552	0.86687	0.5778968754982532	0.57718	1.08659659648	0.77305	.	.	.	0.138823	0.47252	T	0.0585642	0.59433	T	-0.153653	0.58919	T	0.982961237430573	0.74811	D	0.943806	0.81587	D	0.70620406	0.78398	0.76267433	0.85979	0.70620406	0.78399	0.76267433	0.85980	-13.561	0.93571	D	.	.	0.832	0.83281	P	.;.	.;.	3.066769	0.41210	21.3	0.99617203932728615	0.75172	0.96461	0.69254	D	AEFDBI	0.772654	0.70691	D	0.518629447855488	0.68190	5.183473	0.362242262056283	0.59248	4.10112	0.999898584829608	0.45129	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.562822	0.20929	0	.	.	4.78	3.91	0.44383	4.311000	0.58940	.	.	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0806:0.0:0.9194:0.0	12.766	0.56767	50	0.97644	.;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	0.02381	3323.98	37	chr5	140870905	.	G	A	3323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.495e+00;DP=1108;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.053;SOR=0.678	GT:AD:DP:GQ:PL	0/1:170,133:303:99:3338,0,4746	20	0	1	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.758	P	0.516	P	.	.	1.000	N	1.855	L	4.57	T	-0.969	T	0.012	T	0.448	1.619	11.37	2.79	0.455	-0.994	4.291	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	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	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,50,0:169:99:.:.:303,0,2012,632,2150,2782	5	0	5	9
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	-0.505	N	4.98	T	-0.901	T	0.002	T	0.037	-0.559	1.475	2.79	0.455	-0.994	4.291	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-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	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,50,0:169:99:.:.:303,0,2012,632,2150,2782	5	0	5	9
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	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	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,54,15:215:99:.:.:292,0,4390,613,4423,5214	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,54,15:215:99:.:.:292,0,4390,613,4423,5214	1	0	13	5
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	0/1:140,76:216:99:.:.:1029,0,2863	1	0	20	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R	.	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	13005.68	33	chr5	141356585	.	C	G	13005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.890e+00;DP=1926;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.036;SOR=0.690	GT:AD:DP:GQ:PL	0/1:171,169:340:99:4207,0,4600	18	0	3	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	0/1:198,77:275:99:213,0,3748	6	0	15	0
chr5	146515817	146515817	G	T	exonic	GPR151	.	stopgain	GPR151:NM_194251:exon1:c.C297A:p.Y99X,	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	3.417	17.55	3.06	0.772	2.043	9.396	.	.	7.7e-05	0.0061901	0.0030	9.61e-05	0.0010	0.0001	0	0.0001	0	0.0208	0.0026714	413	154602	rs140449635	0.0014	0.0014	0.0008	0.0019	0.0204	0.0013	0.0013	0.0196	0.0192	0	0.0006	3.826e-05	2.519e-05	0	0.0045	5.755e-05	0.0017	0.0204	0.0012	0.0012	0.0008	0.0015	0.0210	0.0010	0.0010	0.0176	0.0164	9.62e-05	0	0.0036	0	0	0	0	0.0002	0.0033	0.0210	.	.	.	.	.	.	.	.	.	.	.	.	0.000007	0.62929	D	0.065823	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.236	0.26596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187773	0.72758	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	6.717386	0.95636	35	0.99654402164474565	0.77505	0.83861	0.42954	D	AEFDBCI	0.133711	0.25347	N	0.532168726992969	0.69005	5.295777	0.350523550776127	0.58539	4.025021	0.999985109767476	0.51787	0.45559	0.09716	2	0.514364	0.08380	0	0.491513	0.07944	0	0.645665	0.59343	0	.	.	5.88	3.06	0.34374	2.387000	0.44043	1.478000	0.26801	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.579000	0.30870	0.2424:0.0:0.7576:0.0	9.396	0.37564	920	0.19381	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	2853.98	48	chr5	146515817	.	G	T	2853.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=963;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.399;SOR=0.703	GT:AD:DP:GQ:PL	0/1:94,106:200:99:2868,0,2356	20	0	1	0
chr5	149358085	149358085	C	G	exonic	PCYOX1L	.	nonsynonymous SNV	PCYOX1L:NM_024028:exon1:c.C17G:p.P6R,	.	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.0	B	0.115	N	1.000	N	0	N	2.84	T	-0.972	T	0.013	T	0.099	0.494	6.680	-5.21	-0.737	-2.938	3.280	0.010	.	.	.	0.0032	0	0	0	.	0.0132	0.0263	0.0003	0.0001811	28	154602	rs760672430	0.0005	0.0005	0.0005	0.0005	0.0005	0.0005	0.0004	0.0001	9.14e-05	3.824e-05	0	0.0204	0	0	0.0005	0.0001	0.0014	0.0002	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0001	0.0001	2.407e-05	0	0	0.0188	0	0	0.0034	0.0002	0	0.0004	0.583	0.05936	T	0.575	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.115409	0.02678	N	1.796260	1	0.08975	N	0	0.06538	N	2.84	0.10674	T	-0.16	0.09460	N	0.105	0.08925	-0.9723	0.36712	T	0.013	0.05273	T	10	0.0034115314	0.00060	T	.	.	.	0.010	0.01040	0.426	0.47185	0.0666544352282	0.05500	0.26166003816284156	0.26079	0.194159565829	0.21749	0.669804215431	0.62810	T	8.38E-4	0.00412	T	-0.618341	0.00113	T	-0.787589	0.02231	T	0.00450139515060346	0.00048	T	0.374863	0.08927	T	0.02462719	0.01313	0.051019028	0.08125	0.02462719	0.01313	0.051019028	0.08124	-3.538	0.16968	T	.	.	0.102	0.18122	B	.	.	-0.685151	0.01355	0.076	0.58079879750987928	0.05912	0.03794	0.09121	N	AEFGBHCIJ	0.025923	0.01857	N	-1.33667435806526	0.03265	0.1455545	-1.39702756160719	0.03284	0.1528584	0.999999999994257	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	5.15	-5.21	0.02600	-2.819000	0.00819	-2.124000	0.04177	-1.236000	0.01320	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.092:0.2431:0.3957:0.2693	3.280	0.06504	452	0.79239	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	461.98	24	chr5	149358085	.	C	G	461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.590e+00;DP=455;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.48;ReadPosRankSum=-7.510e-01;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,13:25:99:0|1:149358081_G_C:476,0,465:149358081	20	0	1	0
chr5	150375799	150375799	G	A	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon11:c.G1552A:p.V518I	Treacher Collins syndrome 1, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	296447	Treacher_Collins_syndrome_1|not_specified|not_provided	MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.951	P	0.76	P	0.038	N	1.000	N	1.59	L	-0.25	T	-0.880	T	0.249	T	0.204	2.628	14.75	1.02	0.470	0.480	2.166	0.136	.	0.0089	0.00239617	0.0077	0.0026	0.0029	0	0.0151	0.0112	0.0066	0.0012	0.0074579	1153	154602	rs75583421	0.0097	0.0097	0.0099	0.0096	0.0112	0.0096	0.0095	0.0111	0.0110	0.0013	0.0032	0.0094	0	0.0135	0.0005	0.0112	0.0081	0.0012	0.0078	0.0078	0.0076	0.0081	0.0111	0.0075	0.0073	0.0105	0.0102	0.0021	0	0.0072	0.0110	0	0.0166	0	0.0111	0.0085	0.0019	0.016	0.59928	D	0.162	0.42976	T	0.951	0.53992	P	0.76	0.56425	P	0.037673	0.01837	N	2.502770	1	0.08975	N	1.965	0.53209	M	-0.25	0.67011	T	-0.77	0.22508	N	0.113	0.14338	-0.8797	0.49786	T	0.249	0.61878	T	10	0.005758971	0.00128	T	.	.	.	0.136	0.36778	.	.	0.429154209284	0.42533	0.04733251895107793	0.04676	0.383352055737	0.39662	0.288181900978	0.08658	T	0.112068	0.42806	T	-0.441999	0.01258	T	-0.398283	0.33583	T	0.0196816857140967	0.00671	T	0.865313	0.59601	D	0.06207229	0.12925	0.046122603	0.06359	0.06864404	0.14973	0.054041408	0.09218	-4.972	0.39346	T	0.2441572400353352	0.33071	0.108	0.25429	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.222183	0.16164	12.36	0.99650463649884968	0.77254	0.17462	0.19848	N	AEFDBCI	0.056888	0.10553	N	-0.574713573974623	0.19715	1.03399	-0.663322229630827	0.17881	0.9527643	0.956405225962285	0.28245	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.16	1.02	0.19102	0.390000	0.20494	0.054000	0.14040	0.618000	0.50648	0.005000	0.17040	0.000000	0.08366	0.337000	0.25363	0.1128:0.1975:0.4867:0.203	2.166	0.03603	851	0.35303	.;Treacle protein domain;.;.;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2061.11	47	chr5	150375799	.	G	A	2061.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.152;DP=909;ExcessHet=0.1072;FS=4.337;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=0.677;SOR=0.802	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1160,0,925	19	0	2	0
chr5	151543610	151543610	A	G	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon10:c.T7517C:p.I2506T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.497	P	0.174	B	0.004	N	0.991	D	-1.595	N	0.92	T	-0.978	T	0.025	T	0.21	-1.394	0.024	4.53	0.988	4.474	9.438	0.133	0.0137062224107	.	.	1.648e-05	9.651e-05	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs759400915	1.642e-05	1.71e-05	1.361e-05	1.925e-05	0.0002	1.111e-05	9.33e-06	0.0001	8.645e-05	5.974e-05	6.708e-05	0	0	0	0	2.698e-06	1.656e-05	0.0002	2.628e-05	2.627e-05	2.57e-05	2.69e-05	7.241e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.114	0.36765	T	0.497	0.37095	P	0.174	0.35540	B	0.003842	0.34414	N	0.251881	0.99131	0.41359	D	-1.82	0.00281	N	0.92	0.44461	T	0.76	0.01978	N	0.262	0.29659	-0.9781	0.35435	T	0.025	0.10509	T	10	0.23669773	0.40756	T	0.013706	0.33318	T	0.133	0.36157	0.538	0.64874	0.44153150616	0.43777	0.5444372415813742	0.54369	0.300255646818	0.32383	0.494179219007	0.38019	T	0.028026	0.20393	T	-0.418036	0.01761	T	-0.563957	0.16006	T	0.0860911714666592	0.10747	T	0.780822	0.41560	T	0.08248708	0.19004	0.09105929	0.21388	0.08248708	0.19003	0.09105929	0.21387	-1.618	0.02024	T	.	.	0.063	0.01534	B	.	.	2.243457	0.28652	17.87	0.25590593284812085	0.01187	0.83266	0.42397	D	AEFBCI	0.254072	0.37346	N	-0.452230417359406	0.23664	1.27238	-0.199448357376685	0.31558	1.787037	0.989879602468767	0.31962	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	4.53	0.55009	4.473000	0.59928	4.802000	0.44976	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8573:0.0:0.1427:0.0	9.438	0.37814	891	0.26808	Cadherin-like|Cadherin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2209.98	38	chr5	151543610	.	A	G	2209.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=926;ExcessHet=0.0000;FS=0.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-5.740e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/1:84,85:169:99:2224,0,2176	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:91,37:140:77:77,0,1831	6	0	15	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|1:0,556,0:558:99:1|1:157052553_CA_*:24956,1692,0,22380,1864,22129:157052553	0	12	1	0
chr5	160606839	160606839	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon18:c.G3086A:p.R1029H	.	.	427	1082	13	0	0	13	0.00597152	.	.	2825504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	3.715	H	-1.29	T	0.816	D	0.773	D	0.935	5.352	34	5.05	2.344	7.702	17.417	0.891	.	7.9e-05	0.00219649	0.0012	0.0001	0	0.0012	0	0.0004	0	0.0062	0.0010284	159	154602	rs200782414	0.0007	0.0007	0.0005	0.0009	0.0062	0.0007	0.0007	0.0058	0.0056	0.0001	0.0001	0	0.0005	1.872e-05	0.0028	0.0004	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	4.813e-05	0	6.54e-05	0	0.0008	0	0.0034	0.0002	0.0005	0.0062	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	4.15	0.97575	H	-1.29	0.79475	T	-4.51	0.78222	D	0.936	0.94196	0.816	0.94603	D	0.773	0.92300	D	9	0.02857536	0.00988	T	.	.	.	0.891	0.96873	.	.	0.94117129692	0.94056	0.9287071617889708	0.92848	0.491966960498	0.47863	0.657167196274	0.61005	T	0.385755	0.74707	T	0.097546	0.64026	D	0.369676	0.91061	D	0.239793604385443	0.22410	T	0.992801	0.97620	D	0.58547974	0.71906	0.49341583	0.70699	0.58547974	0.71907	0.49341583	0.70700	-12.994	0.89339	D	.	.	0.227	0.59584	B	.;.	.;.	5.270177	0.88488	29.6	0.9996034055534363	0.99994	0.98583	0.84360	D	AEFI	0.956747	0.97549	D	0.910387736936323	0.92260	11.32189	0.824452206471775	0.91438	10.88754	0.999998860971258	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	7.813000	0.84661	4.824000	0.45142	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.417	0.87394	865	0.32612	.;.	.	.	.	.	.	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	2414.98	34	chr5	160606839	.	C	T	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.540e-01;DP=902;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-2.015e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/1:102,103:205:99:2429,0,2379	20	0	1	0
chr5	176581538	176581538	G	A	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon17:c.G2014A:p.E672K	.	.	430	1084	8	0	0	8	0.00367647	.	.	2825583	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.9	T	0.686	P	0.051	B	.	.	1.000	N	1.235	L	0.71	T	-1.045	T	0.047	T	0.151	1.317	10.32	1.71	0.032	-0.023	9.320	0.132	0.0116161926537	0.0063	0.00299521	0.0047	0.0011	0.0038	0	0.0023	0.0073	0.0033	0.0008	0.0051487	796	154602	rs72809131	0.0068	0.0068	0.0069	0.0067	0.0135	0.0067	0.0066	0.0111	0.0102	0.0013	0.0051	0.0060	5.038e-05	0.0024	0.0135	0.0079	0.0071	0.0011	0.0052	0.0052	0.0055	0.0048	0.0075	0.0049	0.0047	0.0069	0.0067	0.0017	0.0132	0.0074	0.0084	0	0.0016	0.0306	0.0075	0.0104	0.0008	0.35	0.12305	T	0.916	0.02908	T	0.686	0.41548	P	0.051	0.25434	B	.	.	.	.	1	0.08975	N	0.645	0.16088	N	0.71	0.51228	T	-0.58	0.17417	N	0.234	0.26354	-1.0449	0.15854	T	0.047	0.19958	T	9	0.012528747	0.00269	T	0.011616	0.29427	T	0.132	0.35948	.	.	0.320256813643	0.31633	0.2767555156366929	0.27588	0.168167463028	0.18958	0.289772123098	0.08889	T	0.002327	0.01720	T	-0.585093	0.00179	T	-0.607673	0.12175	T	0.00595349195590494	0.00065	T	0.475352	0.14216	T	0.026620148	0.01743	0.040275	0.04316	0.026620148	0.01743	0.040275	0.04315	-5.064	0.37526	T	.	.	0.073	0.04599	B	.;.;.	.;.;.	0.527590	0.08965	5.744	0.99385538014810093	0.62068	0.05665	0.11580	N	AEFDBI	0.121819	0.23666	N	-0.832796846233315	0.12477	0.6084458	-0.895919729694552	0.12191	0.6256208	0.00323509924357045	0.10007	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.47	1.71	0.23429	0.002000	0.12962	-1.182000	0.06094	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3626:0.0:0.6374:0.0	9.320	0.37124	373	0.84140	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1148.98	39	chr5	176581538	.	G	A	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.589;DP=764;ExcessHet=0.0000;FS=0.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-2.290e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1163,0,712	20	0	1	0
chr5	178986908	178986908	G	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon8:c.C1430T:p.A477V,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	1006076	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.187	B	0.029	B	.	.	1.000	N	-0.55	N	-2.05	D	-0.878	T	0.220	T	0.139	0.091	4.491	0.2	0.163	3.351	6.942	0.180	0.0133204977475	7.7e-05	.	7.472e-05	0	0	0.0002	0	4.532e-05	0	0.0002	6.47e-05	10	154602	rs201164865	4.31e-05	4.309e-05	2.723e-05	5.913e-05	0.0010	3.443e-05	3.129e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0.0001	0	0.0010	1.709e-05	6.623e-05	0.0003	5.912e-05	5.909e-05	3.853e-05	8.066e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.412e-05	0	6.539e-05	0	0.0008	0	0	4.409e-05	0	0	0.502	0.07695	T	0.547	0.09522	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	0.999933	0.19363	N	-1.385	0.00624	N	-2.05	0.85799	D	0.27	0.04306	N	0.164	0.17278	-0.8778	0.49935	T	0.220	0.58240	T	9	0.027757764	0.00916	T	0.01332	0.32631	T	0.180	0.45073	.	.	0.611248696395	0.60812	0.3188133152572899	0.31794	0.101288994905	0.11461	0.434477329254	0.29821	T	0.101196	0.40773	T	-0.355646	0.04382	T	-0.39226	0.34286	T	0.0327337349698805	0.02427	T	0.835616	0.50622	T	0.070882484	0.15649	0.06926932	0.14574	0.070882484	0.15649	0.06926932	0.14574	-4.753	0.34039	T	0.10193952680562984	0.07691	0.077	0.06433	B	.;.;.	.;.;.	3.111813	0.41976	21.5	0.89629562092074255	0.18962	0.11881	0.16921	N	AEFDBI	0.084370	0.17098	N	-0.947212316521131	0.09755	0.4631016	-0.867568657420865	0.12866	0.6643043	4.09504598400641E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	0.2	0.14459	3.109000	0.50037	1.798000	0.28858	0.590000	0.31872	0.074000	0.22182	0.950000	0.28999	0.434000	0.27538	0.5573:0.0:0.4427:0.0	6.942	0.23678	729	0.54495	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2118.98	41	chr5	178986908	.	G	A	2118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=2027;ExcessHet=0.0000;FS=0.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-7.570e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:94,90:184:99:2133,0,2279	20	0	1	0
chr5	179345258	179345258	-	GCAGCAGCAGCAGCA	exonic	ADAMTS2	.	nonframeshift insertion	ADAMTS2:NM_014244:exon1:c.70_71insTGCTGCTGCTGCTGC:p.L23_P24insLLLLL	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1686341	Ehlers-Danlos_syndrome,_dermatosparaxis_type|not_provided	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410,Orphanet:1901|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs568040559	2.123e-05	1.574e-05	1.933e-05	2.33e-05	0.0003	1.364e-05	1.157e-05	0.0001	8.041e-05	0.0001	0	0	0.0003	0	0	1.617e-05	0	0	2.04e-05	1.989e-05	1.326e-05	2.791e-05	0.0001	5.42e-06	2.5e-06	2.312e-05	9.26e-06	2.496e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5145.56	17	chr5	179345258	.	G	GGCA,GGCAGCAGCAGCAGCA	5145.56	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-2.730e-01;DP=757;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=-2.730e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:21,14,0:35:99:468,0,769,532,811,1342	14	0	6	0
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,61,0:109:99:0|1:179522611_C_T:2406,0,1796,2551,1979,4530:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,61,0:109:99:0|1:179522611_C_T:2406,0,1796,2551,1979,4530:179522611	9	3	5	3
chr5	179643128	179643128	G	A	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.C424T:p.P142S	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.001	B	0.001	B	.	.	1.000	N	1.32	L	0.28	T	-1.053	T	0.016	T	0.067	-1.190	0.078	-1.4	-2.396	-1.378	.	0.085	.	.	0.0123802	0.0036	0	0	0.0671	0	0.0015	0	0.0015	0.0035347	92	26028	rs139773355	0.0018	0.0017	0.0018	0.0018	0.0588	0.0017	0.0017	0.0567	0.0559	0	8.405e-05	0.0028	0.0588	0	0.0004	4.635e-05	0.0030	0.0010	0.0020	0.0020	0.0019	0.0021	0.0523	0.0018	0.0018	0.0472	0.0452	0	0	0.0003	0.0026	0.0523	0	0	0.0001	0.0024	0.0023	.	.	.	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	.	.	-1.0530	0.13574	T	0.016	0.06473	T	8	0.0024322867	0.00036	T	.	.	.	.	.	.	.	.	.	0.03078152576066168	0.03027	.	.	.	.	.	.	.	.	-0.677945	0.00049	T	-0.701807	0.05727	T	0.0147068949459723	0.00306	T	0.390761	0.09705	T	.	.	.	.	.	.	.	.	-4.097	0.25246	T	.	.	.	.	.	.	.	-0.066954	0.03841	0.826	0.40268138993184188	0.02831	0.00037	0.00318	N	AEFBI	0.020840	0.00864	N	-1.68905868655419	0.00881	0.03813686	-1.840862219455	0.00637	0.02830478	7.11225557740254E-4	0.07685	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	0.702	-1.4	0.08499	-1.498000	0.02392	-1.730000	0.04832	-2.662000	0.00220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	429.15	37	chr5	179643128	.	G	A	429.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=737;ExcessHet=0.0000;FS=3.526;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.024;MQ=46.98;MQRankSum=-7.890e-01;QD=13.41;ReadPosRankSum=0.00;SOR=1.525	GT:AD:DP:GQ:PL	0/1:17,15:32:99:443,0,432	20	0	1	0
chr5	179794115	179794115	C	T	exonic	LTC4S	.	nonsynonymous SNV	LTC4S:NM_145867:exon1:c.C35T:p.T12I,	Leukotriene C4 synthase deficiency, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	1.000	N	2.91	M	0.48	T	-0.523	T	0.468	T	0.543	2.747	15.15	3.01	1.893	4.931	8.186	0.472	0.16382612397	7.7e-05	.	4.99e-05	0	0	0	0	3.034e-05	0	0.0002	3.88e-05	6	154602	rs140301841	3.764e-05	3.762e-05	4.63e-05	2.889e-05	0.0001	2.961e-05	2.657e-05	6.246e-05	4.757e-05	0	2.236e-05	0	0	0	0	3.777e-05	3.312e-05	0.0001	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0004	2.107e-05	1.526e-05	7.285e-05	3.027e-05	2.405e-05	0	6.536e-05	0	0	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	0.999992	0.58761	D	3.5	0.92762	M	0.48	0.67543	T	-4.42	0.77470	D	0.693	0.69825	-0.5229	0.67807	T	0.468	0.79460	T	10	0.76005447	0.76277	D	0.163826	0.84308	D	0.472	0.76554	.	.	0.807878985271	0.80607	0.8985896339970265	0.89830	1.15996159511	0.79446	0.797843337059	0.81634	T	0.273695	0.64615	T	-0.137871	0.30229	T	-0.176139	0.56880	T	0.944335103034973	0.62040	D	.	.	.	0.74002093	0.80293	0.591424	0.76291	0.74002093	0.80295	0.591424	0.76291	-11.943	0.84572	D	.	.	0.888	0.81946	P	.;.;.	.;.;.	4.249074	0.64477	24.7	0.99444544576724825	0.64971	0.90118	0.51047	D	AEFGBHCI	0.636648	0.61572	D	0.62828762246711	0.74972	6.224177	0.50930409756384	0.68613	5.244501	0.999999976886764	0.74766	0.495158	0.18159	0	0.616935	0.53198	0	0.536957	0.11973	0	0.662026	0.63922	0	.	.	3.9	3.01	0.33872	1.840000	0.38871	7.428000	0.58769	0.587000	0.30956	0.587000	0.27642	1.000000	0.68203	0.504000	0.29107	0.0:0.8838:0.0:0.1162	8.186	0.30502	894	0.26265	.;.;.	.	.	.	.	.	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	1545.98	37	chr5	179794115	.	C	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=859;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.862;SOR=0.693	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1560,0,1118	20	0	1	0
chr6	1313006	1313006	G	A	exonic	FOXQ1	.	nonsynonymous SNV	FOXQ1:NM_033260:exon1:c.G302A:p.G101D,	.	.	314	1191	17	0	0	17	0.00708629	.	.	2825663	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.63	T	0.561	P	0.166	B	0.939	N	1.000	N	1.1	L	0.37	T	-1.041	T	0.042	T	0.23	2.781	15.26	2.5	0.425	.	8.375	0.055	.	0.0039	0.00119808	0.0205	0.0095	0.0072	0.0008	0.0083	0.0285	0.0116	0.0163	0.0035963	556	154602	rs199626291	0.0088	0.0080	0.0089	0.0086	0.0099	0.0086	0.0086	0.0097	0.0097	0.0014	0.0023	0.0103	0.0001	0.0030	0.0022	0.0099	0.0066	0.0042	0.0051	0.0051	0.0056	0.0045	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0014	0.0095	0	0.0033	0	0.0087	0.0043	0.0043	0.181	0.21884	T	0.199	0.27679	T	0.561	0.38362	P	0.166	0.35067	B	0.939196	0.08366	N	0.949192	0.99999	0.08975	N	0.695	0.17993	N	0.37	0.57729	T	-0.39	0.13611	N	0.194	0.21319	-1.0414	0.16890	T	0.042	0.17952	T	10	0.004980266	0.00107	T	.	.	.	0.055	0.15663	.	.	0.300784259202	0.29686	0.26413867288485793	0.26326	.	.	0.856463909149	0.90585	D	0.08505	0.37416	T	-0.490179	0.00648	T	-0.47232	0.25267	T	0.00629917079943835	0.00070	T	0.279272	0.04852	T	0.041404124	0.06089	0.10650694	0.25625	0.041404124	0.06089	0.10650694	0.25624	-7.799	0.59692	D	.	.	0.128	0.27373	B	.	.	2.417411	0.31083	18.63	0.99637282409545935	0.76449	0.19537	0.20699	N	AEFBCI	0.044780	0.07248	N	-0.801798800985491	0.13264	0.6522096	-0.873670911872064	0.12720	0.655933	0.999999922865585	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.38	2.5	0.29355	2.253000	0.42859	2.496000	0.33006	-0.439000	0.05178	0.021000	0.19753	0.973000	0.29867	0.018000	0.11154	0.1253:0.0:0.8747:0.0	8.375	0.31598	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1405.98	44	chr6	1313006	.	G	A	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.370e-01;DP=937;ExcessHet=0.0000;FS=2.136;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=1.10;SOR=0.446	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1420,0,1370	20	0	1	0
chr6	3283750	3283750	A	G	exonic	SLC22A23	.	nonsynonymous SNV	SLC22A23:NM_001382319:exon7:c.T914C:p.L305P	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	.	.	-0.16	T	-0.949	T	0.082	T	0.193	-0.250	2.799	-0.379	-0.095	-0.259	1.165	0.066	.	.	0.00459265	0.0051	0	0	0.0532	0.0263	0.0012	0.0034	0.0014	0.0017852	276	154602	rs117244747	0.0008	0.0008	0.0008	0.0008	0.0141	0.0007	0.0007	0.0131	0.0127	0	2.391e-05	0.0014	0.0141	0.0067	0.0005	0.0001	0.0008	0.0007	0.0013	0.0013	0.0008	0.0017	0.0186	0.0011	0.0011	0.0156	0.0145	0	0	0	0.0023	0.0186	0.0060	0	0.0003	0	0.0008	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	2.55	0.00222	N	.	.	-0.9491	0.41126	T	0.082	0.32266	T	6	0.0031453967	0.00053	T	.	.	.	0.066	0.19193	.	.	0.276065633971	0.27208	.	.	.	.	.	.	.	0.007665	0.07062	T	-0.479664	0.00743	T	-0.444861	0.28265	T	0.0111278282191306	0.00162	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21277	B	.	.	0.098946	0.05008	1.563	0.24618250988495474	0.01097	0.00022	0.00232	N	AEFDGBI	0.010658	0.00080	N	-0.922755362135499	0.10310	0.4921226	-1.11942258719798	0.07329	0.3561005	0.999616044074012	0.40981	0.460665	0.09802	0	0.550933	0.16991	0	0.575934	0.27490	0	0.727631	0.95156	0	.	.	2.71	-0.379	0.11871	-0.251000	0.08837	-0.259000	0.10442	-0.784000	0.03305	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1434:0.2248:0.4022:0.2296	1.165	0.01702	878	0.29785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	631.98	34	chr6	3283750	.	A	G	631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.238e+00;DP=739;ExcessHet=0.0000;FS=1.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.160;SOR=0.961	GT:AD:DP:GQ:PL	0/1:27,26:53:99:646,0,729	20	0	1	0
chr6	7601437	7601439	GAG	-	exonic	SNRNP48	.	nonframeshift deletion	SNRNP48:NM_152551:exon5:c.508_510del:p.E171del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0	0.0024	0	1.501e-05	0	0	0.0001682	26	154602	rs377281502	4.82e-05	5.062e-05	4.932e-05	4.706e-05	0.0015	3.885e-05	3.563e-05	0.0012	0.0011	0	0	0	0.0015	0	0	9.008e-07	0.0001	3.573e-05	9.848e-05	9.842e-05	7.71e-05	0.0001	0.0025	6.002e-05	4.876e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1670.94	35	chr6	7601436	.	TGAG	T	1670.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=816;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=1.07;SOR=0.572	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1685,0,2720	20	0	1	0
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	1/5:0,42,0,0,0,26:68:99:3007,1080,1239,3019,1395,3330,3019,1395,3330,3330,3019,1395,3330,3330,3330,1906,0,1934,1934,1934,1823	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	1/5:0,42,0,0,0,26:68:99:3007,1080,1239,3019,1395,3330,3019,1395,3330,3330,3019,1395,3330,3330,3330,1906,0,1934,1934,1934,1823	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	1/5:0,42,0,0,0,26:68:99:3007,1080,1239,3019,1395,3330,3019,1395,3330,3330,3019,1395,3330,3330,3330,1906,0,1934,1934,1934,1823	9	0	3	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:47,24,5:76:99:342,0,591,368,609,1056	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:47,24,5:76:99:342,0,591,368,609,1056	2	0	6	2
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.025	B	0.035	B	0.056	N	0.853	N	2.015	M	1.98	T	-1.009	T	0.021	T	0.046	2.299	13.64	2.64	0.628	1.417	7.159	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1562	569.39	60	chr6	27310582	.	G	A	569.39	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.043e+00;DP=1543;ExcessHet=1.1607;FS=221.345;InbreedingCoeff=-0.2306;MLEAC=6;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.47;SOR=10.307	GT:AD:DP:GQ:PL	0/1:63,34:101:99:103,0,1077	11	0	5	5
chr6	27808602	27808602	G	C	exonic	H2AC13	.	stoploss	H2AC13:NM_003509:exon1:c.G393C:p.X131Y,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-0.327	2.448	-9.26	-2.033	-0.190	13.246	.	.	.	.	1.676e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750695937	1.096e-05	1.094e-05	9.541e-06	1.24e-05	0.0009	6.49e-06	5.25e-06	0.0003	0.0002	0	0	0	0	0	0.0009	5.403e-06	3.32e-05	3.482e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.599775	0.00146	T	-0.917784	0.00390	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176043	0.05641	2.093	0.69590424622837732	0.09021	0.01925	0.05876	N	AEFDBHCIJ	.	.	.	-0.414207623591497	0.24970	1.352143	-0.903374095949533	0.12015	0.6155806	0.999999999999947	0.74766	0.075627	0.01787	0	0.08856	0.02465	0	0.04985	0.00251	1	0.063338	0.01809	2	0.0772398	0.17812	4.67	-9.26	0.00563	0.334000	0.19529	0.433000	0.18345	-0.130000	0.13190	0.005000	0.17040	0.005000	0.19230	0.254000	0.23365	0.8085:0.0848:0.1067:0.0	13.246	0.59455	461	0.78683	.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	3648.98	33	chr6	27808602	.	G	C	3648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.020e-01;DP=985;ExcessHet=0.0000;FS=2.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=0.586;SOR=0.545	GT:AD:DP:GQ:PL	0/1:114,148:262:99:3663,0,2834	20	0	1	0
chr6	28149495	28149495	G	A	exonic	ZKSCAN8	.	nonsynonymous SNV	ZKSCAN8:NM_006298:exon3:c.G430A:p.V144I	.	.	428	1089	5	0	0	5	0.00229043	.	.	2346055	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.0	B	0.621	N	1.000	N	0	N	3.25	T	-0.911	T	0.004	T	0.045	0.076	4.410	1.61	0.196	-0.024	1.701	0.019	0.00447123678621	.	.	0.0002	9.61e-05	0	0	0	0.0002	0	0.0007	0.0002329	36	154602	rs199685233	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0002	3.828e-05	0	1.872e-05	0.0017	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	8.167e-05	6.723e-05	0.0001	8.877e-05	4.817e-05	0	0	0	0	0	0.0034	0.0002	0.0005	0.0004	0.253	0.16958	T	0.357	0.17115	T	0.001	0.07471	B	0.0	0.01387	B	0.620636	0.05754	N	1.232830	1	0.08975	N	0.46	0.12951	N	3.25	0.06762	T	-0.55	0.16799	N	0.078	0.05287	-0.9110	0.46732	T	0.004	0.01192	T	10	0.03099075	0.01230	T	0.004471	0.10969	T	0.019	0.03383	0.409	0.44395	0.119812018005	0.11559	0.21194840775581356	0.21110	0.237227637055	0.26266	0.354544878006	0.18589	T	0.005833	0.05277	T	-0.609891	0.00127	T	-0.783841	0.02340	T	0.0091024988265071	0.00114	T	0.0660934	0.00480	T	0.020116968	0.00559	0.026625417	0.00762	0.020116968	0.00559	0.026625417	0.00762	-5.994	0.46229	T	.	.	0.091	0.12891	B	.;.	.;.	1.023902	0.14038	10.60	0.88389617538618637	0.17939	0.04887	0.10631	N	AEFDBI	0.016706	0.00393	N	-1.1674274897213	0.05499	0.2508451	-1.14169716210342	0.06918	0.3346471	0.752795993012115	0.23387	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.48	1.61	0.22752	0.510000	0.22430	2.246000	0.31650	-0.685000	0.04181	0.509000	0.27025	0.026000	0.21063	0.179000	0.21265	0.1906:0.1647:0.4751:0.1696	1.701	0.02699	448	0.79501	SCAN domain;SCAN 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	891.98	35	chr6	28149495	.	G	A	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.25;ReadPosRankSum=0.452;SOR=0.619	GT:AD:DP:GQ:PL	0/1:48,39:87:99:906,0,1058	20	0	1	0
chr6	29427172	29427172	T	G	exonic	OR11A1	.	nonsynonymous SNV	OR11A1:NM_013937:exon2:c.A470C:p.D157A,	.	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.012	B	0.000	N	1.000	N	-1.92	N	1.49	T	-0.996	T	0.006	T	0.394	-1.006	0.251	1.25	0.517	-0.853	7.540	0.094	0.00539185204144	0.0004	0.000199681	0.0006	0.0001	0	0.0009	0	0.0004	0.0011	0.0019	0.0004592	71	154602	rs139568093	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0020	0.0019	0	2.236e-05	0	0.0005	0	0.0024	0.0002	0.0005	0.0023	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0002	0.0013	0.0010	0.0001	0	6.537e-05	0	0.0014	0	0.0034	0.0003	0.0014	0.0023	0.867	0.02625	T	0.849	0.03517	T	0.003	0.11197	B	0.012	0.16012	B	0.000392	0.00589	N	5.280830	1	0.08975	N	-2.615	0.00041	N	1.49	0.31470	T	0.62	0.02442	N	0.086	0.06322	-0.9959	0.31055	T	0.006	0.02131	T	10	0.005760461	0.00128	T	0.005392	0.13832	T	0.094	0.27141	.	.	0.0297737177859	0.01360	0.4460887136099381	0.44526	0.17708213508	0.19927	0.372715651989	0.21221	T	6.2E-5	0.00005	T	-0.533701	0.00365	T	-0.542765	0.18025	T	0.0108661715163328	0.00155	T	.	.	.	0.109900504	0.25981	0.16747878	0.38635	0.109900504	0.25980	0.16747878	0.38634	-2.222	0.04148	T	.	.	0.209	0.43626	B	.;.;.;.	.;.;.;.	1.067987	0.14499	11.07	0.83864696785493886	0.14963	0.00874	0.03459	N	AEFBI	0.030595	0.03109	N	-1.17842585505789	0.05326	0.2425679	-1.03001907905769	0.09129	0.4524536	1.37453442944266E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.78	1.25	0.20475	-0.146000	0.10233	.	.	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.1956:0.0:0.8044	7.540	0.26904	819	0.41190	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1690.98	38	chr6	29427172	.	T	G	1690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.730e-01;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.327;SOR=0.677	GT:AD:DP:GQ:PL	0/1:54,64:118:99:1705,0,1496	20	0	1	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,58,0:58:99:1|1:29942982_T_A:2604,175,0,2604,175,2604:29942982	3	4	8	2
chr6	29942985	29942985	A	0	exonic	HLA-A	.	.	.	.	.	8	1279	183	12	40	247	0.0748644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	3424.32	96	chr6	29942985	.	A	G,*	3424.32	.	AC=3,3;AF=0.094,0.094;AN=32;BaseQRankSum=1.35;DP=1731;ExcessHet=0.1217;FS=2.663;InbreedingCoeff=0.0413;MLEAC=4,4;MLEAF=0.125,0.125;MQ=57.98;MQRankSum=-3.446e+00;QD=8.10;ReadPosRankSum=-2.600e-01;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,58,0:58:99:1|1:29942982_T_A:2604,175,0,2604,175,2604:29942982	11	1	1	5
chr6	29943490	29943490	T	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.T566A:p.V189E	.	.	1	1477	44	0	0	44	0.0146765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.851	U	0.990	N	5.51	H	9.25	T	-0.820	T	0.002	T	0.727	3.192	16.68	3.78	1.710	2.837	10.816	0.159	0.00142353322405	.	.	2.606e-05	0	0	0	0.0002	1.6e-05	0.0012	0	3.84e-05	1	26028	rs61760919	0.0007	0.0027	0.0007	0.0007	0.0009	0.0007	0.0006	0.0007	0.0006	0.0002	0.0005	0.0017	8.884e-05	0.0014	0.0009	0.0007	0.0009	0.0004	0.0016	0.0041	0.0015	0.0017	0.0024	0.0014	0.0013	0.0020	0.0018	0.0001	0.0025	0.0016	0.0035	0	0.0014	0	0.0024	0.0063	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.992	0.97372	D	0.851294	0.08960	U	0.882556	0.990206	0.24201	N	.	.	.	9.25	0.00012	T	-4.87	0.83092	D	0.621	0.65844	-0.8199	0.53940	T	0.002	0.00556	T	10	0.348536	0.51765	T	0.001424	0.02113	T	0.159	0.41286	.	.	0.743235531803	0.74093	0.4215216425715336	0.42068	0.57927069771	0.53807	0.427145779133	0.28818	T	0.034601	0.23385	T	0.0421792	0.57330	T	-0.177189	0.56782	T	0.851314777930325	0.50280	D	0.0760924	0.00560	T	0.9365268	0.94894	0.9554539	0.98719	0.9365268	0.94895	0.9554539	0.98720	-9.597	0.71461	D	.	.	0.210	0.46654	B	.;.;.;.;.	.;.;.;.;.	3.771205	0.54171	23.5	0.9364945392310049	0.23532	0.49657	0.28483	N	AEFDBHCI	0.715776	0.66783	D	0.404381041794387	0.61661	4.370396	0.0538978186227101	0.42259	2.55306	0.999999999840471	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	3.78	3.78	0.42629	2.380000	0.43982	.	.	-0.333000	0.05756	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	10.816	0.45779	862	0.33134	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;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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	315.98	109	chr6	29943490	.	T	A	315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.21;DP=2945;ExcessHet=0.0000;FS=0.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.46;MQRankSum=-9.710e+00;QD=1.89;ReadPosRankSum=-1.611e+00;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,19:167:99:0|1:29943462_T_C:330,0,6054:29943462	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|2:101,0,26:127:99:0|1:29943519_G_A:788,1092,5302,0,4210,4132:29943519	6	0	13	1
chr6	29944565	29944565	G	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon5:c.G961A:p.V321M	.	.	3	1323	186	10	0	206	0.07223	.	.	1781407	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0	D	0.913	P	0.691	P	0.212	U	1.000	N	3.09	M	5.65	T	-1.057	T	0.003	T	0.284	0.247	5.337	-6.27	-0.955	-0.236	2.239	0.070	.	.	0.0255591	0.0210	0.0424	0.0124	0.0028	0.0259	0.0233	0.0282	0.0127	0.0014359	222	154602	rs1059896	0.0002	0.0030	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0005	0.0005	5.967e-05	4.102e-05	0.0001	0.0002	9.919e-05	0.0001	0.0006	0.0002	0.0077	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0003	0	0.0003	0	0.0003	0.031	0.45039	D	0.03	0.54159	D	0.003	0.50474	B	0.017	0.53831	B	0.211648	0.16350	U	0.430133	1	0.08975	N	.	.	.	5.65	0.00800	T	-1.02	0.28084	N	0.138	0.13626	-1.0572	0.12465	T	0.003	0.01026	T	10	0.002677232	0.00041	T	.	.	.	0.070	0.20419	.	.	.	.	0.12531310856783362	0.12457	0.836547363532	0.67840	0.272338211536	0.06448	T	0.055992	0.30162	T	-0.581	0.00190	T	-0.55227	0.17107	T	0.0345302149775132	0.02728	T	0.848015	0.52922	T	0.024210302	0.01230	0.04359398	0.05459	0.024210302	0.01230	0.04359398	0.05459	-10.499	0.76842	D	.	.	0.123	0.27821	B	.;.;.	.;.;.	1.364435	0.17740	13.34	0.51719110658237677	0.04614	0.02367	0.06739	N	AEFGBHCI	0.256454	0.37537	N	-0.906902056130523	0.10679	0.5115168	-1.16424901818202	0.06515	0.3138758	0.999999991975517	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.33	-6.27	0.01850	-0.868000	0.04345	.	.	-1.242000	0.01313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2058:0.4163:0.2375:0.1404	2.239	0.03769	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	9241.66	230	chr6	29944565	.	G	A	9241.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.048e+00;DP=4119;ExcessHet=0.0000;FS=2.490;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=59.94;MQRankSum=-1.790e-01;QD=22.71;ReadPosRankSum=-2.330e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,177:177:99:1|1:29944549_G_A:7965,533,0:29944549	19	1	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8675.72	395	chr6	31026275	.	A	T,*	8675.72	.	AC=1,8;AF=0.024,0.190;AN=42;BaseQRankSum=-4.499e+00;DP=9847;ExcessHet=0.9430;FS=5.229;InbreedingCoeff=0.0101;MLEAC=1,8;MLEAF=0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=2.13;ReadPosRankSum=0.273;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:394,0,123:517:99:0|1:31026245_ACCACAGGCT_A:3979,5165,21709,0,16544,16174:31026245	13	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:522,447,0:969:99:0|1:31028713_C_T:16340,0,19775,17911,21120,39031:31028713	9	2	8	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:742,147,0,0:889:99:0|1:31029812_T_G:2909,0,29855,5140,30297,35438,5140,30297,35438,35438:31029812	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:742,147,0,0:889:99:0|1:31029812_T_G:2909,0,29855,5140,30297,35438,5140,30297,35438,35438:31029812	8	0	6	2
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5569.5	583	chr6	31029828	.	A	C,*	5569.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-1.683e+00;DP=14086;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.56;MQRankSum=-4.977e+00;QD=1.04;ReadPosRankSum=-8.380e+00;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:829,0,110:939:99:0|1:31029812_T_G:1600,4095,38531,0,34436,34106:31029812	14	0	2	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:763,0,103:868:99:.:.:1526,3896,31249,0,28846,32652	15	0	2	0
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:763,0,103:868:99:.:.:1526,3896,31249,0,28846,32652	15	0	2	0
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2266.5	583	chr6	31029847	.	T	C,*	2266.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=2.16;DP=13767;ExcessHet=1.7912;FS=0.695;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.71;MQRankSum=-4.957e+00;QD=0.44;ReadPosRankSum=-1.045e+01;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:855,0,88:943:99:0|1:31029812_T_G:873,3447,39348,0,35901,35637:31029812	14	0	2	1
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S,	.	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.002	B	0.0	B	.	.	0.679	N	0	N	2.93	T	-0.906	T	0.003	T	0.111	0.125	4.670	-2.07	-0.539	-1.174	3.524	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3627.11	89	chr6	31138459	.	G	A	3627.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=1838;ExcessHet=0.1072;FS=2.666;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=1.16;SOR=0.551	GT:AD:DP:GQ:PL	0/1:70,73:143:99:1770,0,1515	19	0	2	0
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	0/1:142,140,0:282:99:.:.:3414,0,3465,3841,3886,7727	4	3	9	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M	.	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.035	B	.	.	1.000	P	2.105	M	5.37	T	-0.965	T	0.002	T	0.376	-0.110	3.463	-1.63	-0.380	0.547	3.715	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	24199.8	109	chr6	31270002	.	C	T	24199.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-8.100e-01;DP=3021;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=59.14;MQRankSum=-1.400e-01;QD=18.73;ReadPosRankSum=-1.480e-01;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,83:176:99:0|1:31269990_T_C:3205,0,3655:31269990	12	1	8	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|1:96,78,0:174:99:0|1:31270056_T_C:2723,0,3481,3012,3715,6727:31270056	0	13	5	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I	.	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.005	B	0.002	U	1.000	P	3.3	M	4.31	T	-1.111	T	0.009	T	0.422	-0.903	0.431	2.67	1.821	0.868	9.019	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	10478.8	66	chr6	31270250	.	C	A	10478.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.683;DP=1987;ExcessHet=1.5138;FS=6.263;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=51.19;MQRankSum=-1.731e+00;QD=13.25;ReadPosRankSum=-1.916e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,32:146:99:0|1:31270154_CAGA_C:1001,0,4691:31270154	12	1	8	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E	.	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.066	U	0.993	N	1.595	L	9.55	T	-0.919	T	0.000	T	0.506	0.737	7.911	1.64	0.606	1.230	5.117	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	934	0.15400	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2141.92	147	chr6	31271082	.	G	C	2141.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.130e-01;DP=2900;ExcessHet=0.6776;FS=5.478;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.53;MQRankSum=-7.176e+00;QD=3.37;ReadPosRankSum=-2.537e+00;SOR=1.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,18:175:99:0|1:31271082_G_C:272,0,6484:31271082	17	0	4	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D	.	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.0	B	0.002	B	0.463	N	0.999	N	-2.35	N	5.65	T	-0.906	T	0.000	T	0.535	0.967	8.944	0.453	0.101	-3.936	10.048	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2332.92	147	chr6	31271089	.	C	G	2332.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.706;DP=2932;ExcessHet=0.6776;FS=5.226;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=55.19;MQRankSum=-6.869e+00;QD=3.53;ReadPosRankSum=-1.531e+00;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,19:182:99:0|1:31271082_G_C:276,0,6664:31271082	17	0	4	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	0/1:170,40,0,28:238:99:.:.:1044,0,6870,1575,7009,8688,411,5842,7557,7580	0	0	16	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,23,0:129:99:0|1:31271337_G_T:647,0,4376,966,4446,5411:31271337	9	2	9	0
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|1:0,70,0:70:99:1|1:31356168_A_C:3097,211,0,3097,211,3097:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,13,44:95:99:.:.:1710,1310,2219,0,524,1481	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,5,0:45:90:0|1:31356417_G_A:90,0,1665,210,1680,1890:31356417	2	3	5	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|1:0,120,0:120:99:1|1:31356747_GCC_G:5383,361,0,5383,361,5383:31356747	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|2:75,0,103:178:99:0|1:31356809_C_T:4087,4312,7441,0,3129,2819:31356809	0	5	0	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	0/3:52,0,0,50:102:99:.:.:1909,2066,4205,2066,4205,4205,0,2139,2139,1988	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|1:80,33:113:99:0|1:31625601_T_C:669,0,2536:31625601	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|1:80,33,0:113:99:0|1:31625601_T_C:669,0,2536,908,2634,3542:31625601	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|1:80,33,0:113:99:0|1:31625601_T_C:669,0,2536,908,2634,3542:31625601	0	0	18	2
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.51	P	0.147	B	0.011	N	1.000	N	0.05	N	0.6	T	-0.940	T	0.022	T	0.141	-0.852	0.544	0.376	-0.076	0.061	7.727	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	746.15	34	chr6	32084509	.	T	C	746.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.746e+00;DP=1306;ExcessHet=0.6776;FS=128.029;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.37;ReadPosRankSum=1.75;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,22:141:99:0|1:32084509_T_C:252,0,4498:32084509	17	0	4	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	0/1:24,9,0,0,0:33:99:298,0,947,370,974,1344,370,974,1344,1344,370,974,1344,1344,1344	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	0/1:24,9,0,0,0:33:99:298,0,947,370,974,1344,370,974,1344,1344,370,974,1344,1344,1344	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	0/1:24,9,0,0,0:33:99:298,0,947,370,974,1344,370,974,1344,1344,370,974,1344,1344,1344	0	1	4	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.868	P	0.682	P	0.023	N	1.000	N	2.18	M	4.8	T	-0.951	T	0.006	T	0.262	1.437	10.75	1.51	0.387	0.692	5.216	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	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	172.04	102	chr6	32443853	.	C	G	172.04	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.462e+00;DP=2926;ExcessHet=0.1072;FS=311.949;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=2.03;SOR=10.536	GT:AD:DP:GQ:PL	0/1:134,49:183:71:71,0,3061	18	0	2	1
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|2:16,0,26:42:99:0|1:32521957_G_A:1044,1092,1764,0,672,594:32521957	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	1|3:0,22,0,16,0:38:99:0|1:32521957_G_A:1596,672,606,1596,672,1596,924,0,924,876,1596,672,1596,924,1596:32521957	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	2|2:0,0,22:38:66:1|1:32521957_G_A:990,990,990,66,66,0:32521957	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	1|1:0,37,0,0:37:99:1|1:32521957_G_A:1665,111,0,1665,111,1665,1665,111,1665,1665:32521957	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	2|2:0,0,8:8:24:1|1:32522075_A_G:354,354,354,24,24,0:32522075	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|3:0,17,0,4,0:21:99:0|1:32522156_T_A:882,168,117,882,168,882,714,0,714,702,882,168,882,714,882:32522156	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|2:0,17,4:21:99:0|1:32522156_T_A:882,168,117,714,0,702:32522156	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|2:0,4,17:21:99:0|1:32522156_T_A:882,714,702,168,0,117:32522156	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	1/2:0,73,14:87:99:.:.:3627,585,387,3045,0,3062	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	2/2:0,0,87,0:87:99:.:.:3919,3904,3960,265,265,0,3915,3936,268,3940	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	1/2:0,73,14,0:87:99:.:.:3630,585,365,3048,0,3065,3636,588,3107,3695	0	1	0	0
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X,	.	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.838	N	1.000	A	.	.	.	.	.	.	.	.	.	2.918	15.72	0.396	0.242	-1.613	7.656	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	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	0.1905	29644.93	509	chr6	32581836	.	G	C,A	29644.93	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-1.041e+00;DP=8578;ExcessHet=0.5418;FS=1.262;InbreedingCoeff=0.0735;MLEAC=5,3;MLEAF=0.119,0.071;MQ=56.50;MQRankSum=-8.926e+00;QD=8.65;ReadPosRankSum=3.57;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,115,0:366:99:0|1:32581836_G_C:4064,0,10167,4820,10514,15333:32581836	14	1	3	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|1:81,135,0,0:216:99:0|1:32584162_G_T:5405,0,2995,5648,3401,9050,5648,3401,9050,9050:32584162	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	0|1:89,137,0:226:99:0|1:32584162_G_T:5485,0,3285,5753,3697,9450:32584162	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	0|2:89,0,137:226:99:0|1:32584162_G_T:5485,5753,9450,0,3697,3285:32584162	3	0	1	0
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	1/1:0,290,0:290:99:.:.:13050,873,0,13050,873,13050	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	1/2:0,132,157,0:289:99:.:.:12135,6558,6155,5070,0,4515,11915,6557,5059,11837	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	0/1:191,61,0:252:99:.:.:1954,0,7801,2528,7985,10513	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	1/2:0,42,171:213:99:.:.:9034,7186,7054,1770,0,1249	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	0|2:233,0,62:295:99:0|1:32641430_C_T:1902,2603,12387,0,9784,9597:32641430	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	0|1:233,62,0:295:99:0|1:32641430_C_T:1902,0,9597,2603,9784,12387:32641430	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	0|2:248,0,57:305:99:0|1:32641430_C_T:1647,2394,12758,0,10364,10192:32641430	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	0|2:248,0,57:305:99:0|1:32641430_C_T:1647,2394,12758,0,10364,10192:32641430	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	0|2:291,0,50,0:341:99:0|1:32641476_G_A:1224,2099,14319,0,12219,12069,2099,14319,12219,14319:32641476	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	0|3:296,0,0,53:349:99:0|1:32641476_G_A:1276,2167,14556,2167,14556,14556,0,12388,12388,12229:32641476	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	0|3:296,0,0,53:349:99:0|1:32641476_G_A:1276,2167,14556,2167,14556,14556,0,12388,12388,12229:32641476	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	0|2:182,0,34:216:99:0|1:32664910_A_G:880,1428,9070,0,7642,7540:32664910	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|1:196,41:237:99:0|1:32664910_A_G:1132,0,8107:32664910	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	2/2:0,0,102:102:99:.:.:4564,4564,4564,307,307,0	1	1	0	0
chr6	32858130	32858130	G	C	exonic	PSMB9	.	nonsynonymous SNV	PSMB9:NM_002800:exon4:c.G386C:p.G129A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.000	D	1.000	D	2.005	M	1.98	T	-1.064	T	0.078	T	0.338	3.894	19.80	4.0	1.280	5.289	10.929	0.254	0.0151531328474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.573e-05	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.54683	D	0.109	0.38450	T	0.999	0.77913	D	0.984	0.76113	D	0.000013	0.62929	D	0.112750	0.999994	0.58761	D	2.245	0.63543	M	1.98	0.21865	T	-5.5	0.88963	D	0.508	0.54322	-1.0644	0.10689	T	0.078	0.30982	T	10	0.59220564	0.66444	D	0.015153	0.35714	T	0.254	0.56428	0.67	0.80803	0.626386034836	0.62333	0.8369063062607006	0.83650	1.2898225746	0.82758	0.560316443443	0.47313	T	0.045347	0.61009	T	-0.092387	0.37681	T	-0.370484	0.36831	T	0.989562571048737	0.79793	D	.	.	.	0.48578802	0.66250	0.47647023	0.69666	0.48578802	0.66251	0.47647023	0.69667	-6.29	0.48642	T	.	.	0.206	0.44860	B	.;.;.	.;.;.	4.595437	0.72728	25.9	0.99810844485195949	0.89442	0.94619	0.61758	D	AEFBI	0.685921	0.64776	D	0.599113474010226	0.73119	5.914338	0.545569782763576	0.71089	5.602106	0.999998239765846	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.693144	0.63139	0	0.59522	0.37078	0	.	.	4.87	4.0	0.45673	5.276000	0.65391	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.0907:0.0:0.9093:0.0	10.929	0.46421	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	0	0	0	0	0.04762	120.13	40	chr6	32858130	.	G	C	120.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.401e+00;DP=973;ExcessHet=0.1072;FS=264.058;InbreedingCoeff=-0.0508;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=1.26;SOR=8.525	GT:AD:DP:GQ:PL	0/1:45,25:70:92:92,0,906	19	0	2	0
chr6	33211285	33211285	G	A	exonic	RING1	.	nonsynonymous SNV	RING1:NM_002931:exon5:c.G583A:p.A195T,	.	.	402	1104	16	0	0	16	0.00719424	.	.	2213135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.001	B	0.070	N	0.945	D	0.345	N	-1.75	D	-1.034	T	0.133	T	0.074	0.755	7.997	1.29	0.458	1.322	5.246	0.072	0.0134455548713	0.0005	0.000998403	0.0009	0.0002	0.0015	0.0002	0	0.0010	0.0023	0.0009	0.0007503	116	154602	rs149445528	0.0007	0.0007	0.0006	0.0007	0.0111	0.0007	0.0006	0.0089	0.0081	0.0001	0.0011	0.0090	5.04e-05	0	0.0111	0.0005	0.0012	0.0006	0.0006	0.0007	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	2.425e-05	0	0.0015	0.0081	0.0002	0	0.0034	0.0005	0.0009	0.0010	0.614	0.05404	T	0.783	0.04288	T	0.0	0.02946	B	0.001	0.04355	B	0.069904	0.21574	N	0.397179	0.944905	0.37467	D	0	0.06538	N	-1.75	0.83495	D	0.73	0.02068	N	0.156	0.16168	-1.0338	0.19236	T	0.133	0.44544	T	10	0.0042042136	0.00084	T	0.013446	0.32862	T	0.072	0.21020	.	.	0.377143385212	0.37329	0.12279097114794765	0.12205	0.549617653445	0.51857	0.731486678123	0.71723	T	0.040972	0.25705	T	-0.452123	0.01097	T	-0.472661	0.25230	T	0.00472563817380781	0.00051	T	.	.	.	0.042982373	0.06616	0.084812395	0.19538	0.042982373	0.06616	0.084812395	0.19538	-3.856	0.21644	T	.	.	0.066	0.02065	B	.	.	2.355580	0.30207	18.36	0.851505894610881	0.15716	0.57302	0.30341	D	AEFDBCI	0.090074	0.18254	N	-0.540804323890847	0.20772	1.097571	-0.391984423634195	0.25235	1.386541	0.998708718549784	0.37498	0.651	0.46895	0	0.606735	0.50208	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.33	1.29	0.20717	0.633000	0.24289	5.624000	0.49094	0.606000	0.46413	0.312000	0.25432	1.000000	0.68203	0.991000	0.66497	0.3937:0.0:0.6063:0.0	5.246	0.14813	712	0.56465	.	.	.	.	.	.	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	1103.98	33	chr6	33211285	.	G	A	1103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.955e+00;DP=758;ExcessHet=0.0000;FS=5.374;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=1.64;SOR=0.263	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1118,0,680	20	0	1	0
chr6	33725487	33725487	G	T	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon5:c.C719A:p.A240E	.	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.013	B	0.018	B	0.020	N	0.810	D	0.075	N	2.36	T	-0.989	T	0.007	T	0.119	0.699	7.731	3.71	1.374	2.616	12.059	0.046	0.0030904831184	0.0002	0.00119808	0.0006	0	0.0012	0.0002	0	0.0006	0.0034	0.0007	0.0005498	85	154602	rs144789373	0.0005	0.0005	0.0005	0.0005	0.0068	0.0005	0.0005	0.0051	0.0045	5.974e-05	0.0011	0.0044	5.038e-05	0	0.0068	0.0004	0.0009	0.0005	0.0005	0.0005	0.0004	0.0006	0.0016	0.0004	0.0004	0.0011	0.0010	2.405e-05	0	0.0016	0.0043	0.0004	0	0.0034	0.0004	0.0014	0.0004	1.0	0.00964	T	0.867	0.03342	T	0.013	0.16609	B	0.018	0.18489	B	0.019978	0.27141	N	0.352934	0.810278	0.34631	D	0.545	0.13751	N	2.36	0.16089	T	1.19	0.01092	N	0.3	0.34012	-0.9888	0.32903	T	0.007	0.02558	T	10	0.0107131	0.00237	T	0.00309	0.06696	T	0.046	0.12618	.	.	0.262662153117	0.25859	0.29245694616899875	0.29158	0.260043110434	0.28572	0.396821647882	0.24627	T	0.005933	0.05373	T	-0.579168	0.00195	T	-0.661059	0.08195	T	0.0235317813989514	0.01087	T	0.783622	0.42065	T	0.08251858	0.19014	0.20924945	0.45261	0.08251858	0.19014	0.20924945	0.45260	-3.506	0.16515	T	.	.	0.118	0.24226	B	.;.	.;.	1.463019	0.18861	13.96	0.79153747207880487	0.12614	0.35975	0.25426	N	AEFDBI	0.161136	0.28716	N	-0.516095621092209	0.21560	1.145066	-0.301310497929547	0.28056	1.561374	0.999356439385833	0.39259	0.525926	0.21836	0	0.615948	0.52940	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.71	3.71	0.41733	3.221000	0.50917	3.946000	0.40638	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.618000	0.31844	0.0:0.0:0.4142:0.5858	12.059	0.52850	663	0.61610	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1241.98	35	chr6	33725487	.	G	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=782;ExcessHet=0.0000;FS=0.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-2.070e-01;SOR=0.543	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1256,0,976	20	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,15:52:22:.:.:22,0,714	3	0	9	9
chr6	41784992	41784992	G	A	exonic	PRICKLE4	.	nonsynonymous SNV	PRICKLE4:NM_013397:exon5:c.G298A:p.A100T,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.055	B	0.061	N	1.000	N	1.845	L	-2.05	D	-0.664	T	0.358	T	0.148	1.520	11.03	3.6	0.525	1.000	15.605	0.235	0.0428527277133	0.0005	0.000399361	0.0008	0	0.0007	0.0001	0.0003	0.0006	0.0022	0.0027	0.000705	109	154602	rs140175299	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0006	0.0023	0.0022	2.989e-05	0.0008	0	0	0.0002	0.0014	0.0006	0.0009	0.0025	0.0006	0.0006	0.0006	0.0006	0.0018	0.0005	0.0005	0.0013	0.0011	9.621e-05	0	0.0018	0	0	0	0	0.0007	0.0005	0.0017	0.065	0.36310	T	0.076	0.65728	T	0.015	0.17086	B	0.055	0.25995	B	0.060823	0.22218	N	0.321942	0.821884	0.28872	N	2.28	0.64929	M	-2.05	0.85799	D	-1.71	0.42001	N	0.232	0.28849	-0.6642	0.62091	T	0.358	0.72037	T	10	0.0053378344	0.00117	T	0.042853	0.60682	D	0.235	0.53788	.	.	0.272205846399	0.26826	0.08945990360881802	0.08878	0.886063092977	0.70002	0.375735759735	0.21652	T	0.009525	0.08670	T	-0.372252	0.03482	T	-0.312417	0.43400	T	0.0189760634485866	0.00606	T	0.911409	0.68582	D	0.039847896	0.05579	0.11779564	0.28435	0.039847896	0.05579	0.11779564	0.28434	-6.558	0.56295	T	.	.	0.081	0.11269	B	.;.;.;.;.	.;.;.;.;.	1.635346	0.20874	14.95	0.94293080236992644	0.24596	0.54218	0.29562	D	AEFDBCI	0.113821	0.22443	N	-0.876857934412203	0.11394	0.5496533	-0.778512071176579	0.15022	0.7879534	0.999999682059008	0.74766	0.635344	0.42169	0	0.480063	0.06835	0	0.654045	0.52621	0	0.491896	0.07777	0	.	.	4.47	3.6	0.40374	1.139000	0.31115	5.560000	0.48915	-0.108000	0.15293	0.754000	0.29177	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.8595:0.1405	15.605	0.76405	451	0.79296	.;PET domain|PET domain;.;.;PET domain|PET 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	1419.98	33	chr6	41784992	.	G	A	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=803;ExcessHet=0.0000;FS=2.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-2.900e-01;SOR=0.462	GT:AD:DP:GQ:PL	0/1:55,62:117:99:1434,0,1233	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	0/1:76,35:111:99:129,0,1429	4	0	14	3
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	B	0.041	B	0.000	D	1.000	D	0.24	N	1.69	T	-1.025	T	0.018	T	0.207	-0.511	1.662	5.64	2.147	2.830	15.038	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1923	851.03	179	chr6	52403967	.	A	G	851.03	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.856e+00;DP=2907;ExcessHet=1.1607;FS=121.785;InbreedingCoeff=-0.2622;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=1.19;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:179,38:217:99:.:.:250,0,4208	8	0	5	8
chr6	52469339	52469339	C	T	exonic	EFHC1	.	nonsynonymous SNV	EFHC1:NM_018100:exon7:c.C1144T:p.P382S	.	.	12	1509	1	0	0	1	0.000331236	.	.	201998	Absence_seizure|Myoclonic_epilepsy,_juvenile,_susceptibility_to,_1|not_provided	MONDO:MONDO:0850093,MedGen:C0014553,Orphanet:1941|MONDO:MONDO:0020752,MedGen:C1850778,OMIM:254770|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.993	D	0.000	D	1.000	D	3.015	M	-0.56	T	0.341	D	0.625	D	0.872	3.214	16.77	5.69	2.679	4.410	19.822	0.646	0.10271731399	.	.	0.0002	0	0	0	0.0002	0.0001	0	0.0006	0.0001294	20	154602	rs566874147	4.447e-05	4.446e-05	3.676e-05	5.226e-05	0.0005	3.575e-05	3.257e-05	0.0003	0.0003	0	0	0	0	1.874e-05	0	1.709e-05	8.28e-05	0.0005	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.007	0.59928	D	0.012	0.63918	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.049166	0.999994	0.58761	D	3.47	0.92451	M	-0.56	0.73523	T	-7.47	0.95015	D	0.825	0.82057	0.341	0.88198	D	0.625	0.86829	D	10	0.78178763	0.77915	D	0.102717	0.77634	D	0.646	0.86586	0.606	0.73825	0.924131040495	0.92336	0.7418849979259445	0.74134	0.459963459641	0.45555	0.587653934956	0.51162	T	0.121249	0.76904	T	0.107102	0.65049	D	0.232224	0.84778	D	0.968815505504608	0.68372	D	0.962304	0.94819	D	0.6131164	0.73395	0.622331	0.77995	0.6131164	0.73396	0.622331	0.77996	-11.173	0.81278	D	0.6322560508345103	0.70181	0.594	0.73620	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.200312	0.63377	24.6	0.99905030338655454	0.97576	0.98502	0.83459	D	AEFBI	0.686171	0.64793	D	0.744800751039115	0.82565	7.794299	0.660819827998997	0.79417	7.078407	0.998743418638613	0.37581	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.69	5.69	0.88346	4.482000	0.59989	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:1.0:0.0:0.0	19.822	0.96595	887	0.27948	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	4581.98	34	chr6	52469339	.	C	T	4581.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.586e+00;DP=1111;ExcessHet=0.0000;FS=1.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.05;SOR=0.592	GT:AD:DP:GQ:PL	0/1:213,202:415:99:4596,0,5187	20	0	1	0
chr6	56603317	56603317	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon38:c.A10412G:p.H3471R	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	.	.	.	.	0.519	N	0.959	N	.	.	1.0	T	-0.827	T	0.271	T	0.228	-0.628	1.218	1.43	0.068	0.602	13.430	0.065	0.00959603998934	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480689950	3.427e-06	3.42e-06	4.091e-06	2.756e-06	4.49e-05	1e-06	7.3e-07	7.44e-06	2.78e-06	0	4.49e-05	0	2.524e-05	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.18434	T	.	.	.	.	.	.	.	.	.	0.519367	0.11759	N	0.743446	.	.	.	.	.	.	0.05	0.61923	T	-0.41	0.14000	N	0.274	0.31027	-0.8271	0.53486	T	0.271	0.64256	T	6	0.12601966	0.23953	T	0.009596	0.25107	T	0.065	0.18881	.	.	0.292942362817	0.28906	.	.	.	.	.	.	.	0.005954	0.05392	T	-0.251431	0.13923	T	-0.423093	0.30722	T	0.0399119912280323	0.03674	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293113	0.06695	3.198	0.38552005055029182	0.02607	0.25851	0.22822	N	AEFBI	0.100168	0.20148	N	-0.515930514589349	0.21565	1.145383	-0.623698869383676	0.18884	1.010833	0.835793803417812	0.24776	0.706548	0.73137	0	0.546412	0.12157	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.37	1.43	0.21585	0.780000	0.26421	0.997000	0.23233	0.609000	0.47794	0.627000	0.27974	0.603000	0.25729	0.114000	0.18915	0.0:0.0:0.3362:0.6638	13.430	0.60500	249	0.90233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	613.98	33	chr6	56603317	.	T	C	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-02;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.77;ReadPosRankSum=-9.790e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:40,30:70:99:628,0,931	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	0/1:28,6,2:44:99:105,0,592,175,566,861	6	0	12	1
chr6	68930643	68930643	A	G	exonic	ADGRB3	.	nonsynonymous SNV	ADGRB3:NM_001704:exon4:c.A842G:p.D281G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.148	B	0.05	B	0.011	N	1.000	D	0.46	N	2.03	T	-1.068	T	0.019	T	0.47	2.849	15.49	5.15	2.069	8.854	15.273	0.142	0.00519295063287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.2	0.27591	T	0.148	0.27908	B	0.05	0.25278	B	0.011326	0.29573	N	0.341437	0.999941	0.51968	D	.	.	.	2.03	0.20959	T	-1.79	0.42191	N	0.433	0.47208	-1.0680	0.09858	T	0.019	0.07939	T	10	0.18910691	0.34496	T	0.005193	0.13218	T	0.142	0.37995	0.292	0.25400	0.043077524339	0.03247	0.38969288472407515	0.38884	0.289485884508	0.31360	0.708610057831	0.68392	T	0.057156	0.30487	T	-0.0843727	0.39000	T	-0.358972	0.38171	T	0.768987119197845	0.44378	D	0.923208	0.72041	D	0.26885882	0.49958	0.29216224	0.55243	0.26885882	0.49958	0.29216224	0.55242	-2.036	0.03319	T	.	.	0.283	0.51566	B	.;.	.;.	4.015241	0.59269	24.1	0.99463016259201753	0.65892	0.98150	0.80031	D	AEFI	0.899179	0.84329	D	0.0748218221774725	0.45290	2.788042	0.269048153239784	0.53740	3.541558	0.998313214443293	0.36741	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	8.812000	0.91581	11.265000	0.91209	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.273	0.73422	943	0.12886	.;.	.	.	.	.	.	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	1010.98	36	chr6	68930643	.	A	G	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-2.600e-02;SOR=0.658	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1025,0,1219	20	0	1	0
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|2:30,0,24:54:99:0|1:80007990_G_A:786,876,2109,0,1233,1163:80007990	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|1:30,24,0,0:54:99:0|1:80007990_G_A:786,0,1163,876,1233,2109,876,1233,2109,2109:80007990	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|1:30,24,0,0:54:99:0|1:80007990_G_A:786,0,1163,876,1233,2109,876,1233,2109,2109:80007990	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|1:30,24,0:54:99:0|1:80007990_G_A:786,0,1163,876,1233,2109:80007990	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|1:30,24,0:54:99:0|1:80007990_G_A:786,0,1163,876,1233,2109:80007990	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|1:30,24,0,0:54:99:0|1:80007990_G_A:786,0,1163,876,1233,2109,876,1233,2109,2109:80007990	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|1:30,24,0,0:54:99:0|1:80007990_G_A:786,0,1163,876,1233,2109,876,1233,2109,2109:80007990	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|1:30,24,0,0:54:99:0|1:80007990_G_A:786,0,1163,876,1233,2109,876,1233,2109,2109:80007990	1	0	7	8
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,24:54:99:0|1:80007990_G_A:786,876,2109,0,1233,1163:80007990	4	0	4	10
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,24:54:99:0|1:80007990_G_A:786,876,2109,0,1233,1163:80007990	4	0	4	10
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|1:28,24:52:99:0|1:80007990_G_A:792,0,1105:80007990	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	2/3:0,0,22,19:41:99:1692,1714,1836,788,928,969,903,926,0,855	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	2/3:0,0,22,19:41:99:1692,1714,1836,788,928,969,903,926,0,855	3	8	1	0
chr6	82191202	82191202	T	C	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon25:c.A3401G:p.H1134R	.	.	.	.	.	.	.	.	.	.	.	2280704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.997	D	0.945	D	0.007	N	0.995	D	2.045	M	1.82	T	-1.012	T	0.100	T	0.519	1.785	11.93	1.85	0.067	1.263	13.556	0.129	0.0177063413291	0.0005	.	0.0004	0.0004	0	0	0.0005	0.0006	0	0	0.0004269	66	154602	rs145495116	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0008	0.0008	0.0002	9.356e-05	0	0	0.0004	0	0.0008	0.0005	3.562e-05	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0001	0	0.0001	0	0	0.0003	0	0.0010	0.0005	0	0.469	0.91255	T	0.481	0.11864	T	0.814	0.62325	P	0.432	0.51631	B	0.006682	0.31864	N	0.364125	0.995182	0.42579	D	1.845	0.48678	L	1.82	0.33630	T	-1.59	0.39119	N	0.181	0.40465	-1.0119	0.26322	T	0.100	0.37137	T	10	0.064602554	0.08593	T	0.017706	0.39515	T	0.129	0.35316	.	.	0.563062461143	0.55969	0.14070642597505742	0.13993	0.309982219948	0.33310	0.471201598644	0.34846	T	0.24793	0.61765	T	-0.332564	0.05920	T	-0.300923	0.44628	T	0.0333429385477442	0.02528	T	.	.	.	0.093127914	0.21865	0.069675274	0.14711	0.093127914	0.21865	0.069675274	0.14710	-4.478	0.30600	T	.	.	0.070	0.20235	B	.;.;.;.	.;.;.;.	1.735991	0.22091	15.48	0.95733791851506378	0.27679	0.95227	0.63909	D	AEFBI	0.247177	0.36780	N	-0.0180374052591854	0.41041	2.447711	-0.0553236944312778	0.37260	2.179254	0.11892958946348	0.16834	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.75	1.85	0.24418	1.244000	0.32381	1.474000	0.26774	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.663000	0.33052	0.0:0.0:0.3973:0.6027	13.556	0.61223	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	1	0	0	0	0.02381	562.98	46	chr6	82191202	.	T	C	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.340e-01;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.095e+00;SOR=0.634	GT:AD:DP:GQ:PL	0/1:28,27:55:99:577,0,652	20	0	1	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	0/1:38,21:59:46:.:.:46,0,418	6	0	13	2
chr6	89750438	89750438	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon24:c.A3322G:p.I1108V,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.994	D	0.968	D	0.000	D	1.000	D	1.595	L	1.07	T	-0.891	T	0.157	T	0.453	2.410	14.02	5.64	2.156	7.578	15.853	0.266	0.0371535008317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173214527	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	1.159e-05	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.154	0.32296	T	0.062	0.45318	T	0.994	0.66517	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.41	0.35535	L	1.07	0.39586	T	-0.7	0.20358	N	0.475	0.54932	-0.8906	0.48881	T	0.157	0.48976	T	10	0.41311488	0.56360	T	0.037154	0.57442	D	0.266	0.57999	0.55	0.66576	0.223474106383	0.21959	0.5157497530922376	0.51497	0.519204168582	0.49747	0.651280164719	0.60168	T	0.048248	0.27962	T	-0.181989	0.23439	T	-0.317663	0.42831	T	0.421928197349045	0.29762	T	0.946405	0.91883	D	0.10604205	0.25073	0.14390226	0.34183	0.10604205	0.25073	0.14390226	0.34182	-7.108	0.54818	T	.	.	0.166	0.36850	B	.;.;.	.;.;.	3.033336	0.40636	21.2	0.99095683731709649	0.52321	0.99411	0.95685	D	AEFDGBI	0.777858	0.71054	D	0.46872652369813	0.65273	4.801859	0.408384572964004	0.62084	4.418315	0.999999903872868	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.64	5.64	0.86480	7.555000	0.81171	5.002000	0.46604	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.0:0.0:1.0	15.853	0.78727	773	0.48803	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1003.98	35	chr6	89750438	.	T	C	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.570e-01;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-1.393e+00;SOR=0.737	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1018,0,1074	20	0	1	0
chr6	106512178	106512178	C	T	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001371242:exon3:c.C1061T:p.T354M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.981	T	0.028	T	.	0.121	4.650	-2.79	-1.036	0.022	1.985	0.045	.	.	.	0.0002	0	0	0	.	0.0003	0	0.0001	1.94e-05	3	154602	rs114293299	1.736e-05	1.71e-05	1.428e-05	2.052e-05	0.0004	1.174e-05	9.87e-06	6.179e-05	2.554e-05	0	0	0	0	0	0.0004	1.484e-05	3.458e-05	5.055e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.999922	0.19486	N	.	.	.	.	.	.	.	.	.	0.089	0.06720	-0.9805	0.34886	T	0.028	0.11838	T	5	0.07218352	0.10742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.50155	0.15709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.322083	0.06964	3.515	0.88338831224822278	0.17899	0.01487	0.04941	N	AEFDGBCIJ	.	.	.	-0.980944665799619	0.09011	0.4247465	-1.21863876839816	0.05611	0.2678173	0.999999990114403	0.74766	0.162408	0.03677	1	0.073863	0.01883	0	0.132232	0.03703	1	0.088244	0.02422	0	0.141386	0.26767	2.41	-2.79	0.05494	0.008000	0.13095	-0.130000	0.11629	-0.320000	0.05874	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1331:0.3838:0.3067:0.1764	1.985	0.03226	869	0.31655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	917.98	34	chr6	106512178	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=947;ExcessHet=0.0000;FS=0.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=0.756;SOR=0.486	GT:AD:DP:GQ:PL	0/1:29,37:66:99:932,0,659	20	0	1	0
chr6	109466273	109466273	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_014797:exon7:c.G1672A:p.D558N,	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	521280	ZBTB24-related_disorder|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_provided	.|MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.2	T	0.033	B	0.012	B	0.000	N	0.974	D	0.805	L	2.87	T	-1.003	T	0.011	T	0.013	3.270	16.98	5.17	1.509	3.643	14.532	0.099	0.00443151318148	0.0023	0.00139776	0.0025	0.0007	0.0030	0	0.0015	0.0037	0.0022	0.0005	0.0024191	374	154602	rs61731736	0.0027	0.0027	0.0028	0.0027	0.0061	0.0027	0.0026	0.0045	0.0039	0.0005	0.0026	0.0116	0	0.0013	0.0061	0.0029	0.0033	0.0005	0.0024	0.0024	0.0027	0.0021	0.0032	0.0022	0.0021	0.0028	0.0027	0.0006	0	0.0024	0.0107	0	0.0022	0.0170	0.0032	0.0061	0.0006	0.163	0.23450	T	0.269	0.22426	T	0.033	0.20350	B	0.012	0.16012	B	0.000004	0.62929	N	0.102760	0.974	0.39077	D	0.28	0.10031	N	2.87	0.10386	T	-1.01	0.26639	N	0.099	0.08088	-1.0026	0.29168	T	0.011	0.03949	T	10	0.005057752	0.00109	T	0.004432	0.10844	T	0.099	0.28413	.	.	0.167679373172	0.16340	0.4776154451295473	0.47681	0.168406635344	0.18989	0.437026292086	0.30171	T	0.012333	0.10860	T	-0.687007	0.00044	T	-0.762036	0.03040	T	0.0142797081524767	0.00284	T	0.822018	0.48145	T	0.053179946	0.10025	0.06708764	0.13832	0.065692656	0.14063	0.07455808	0.16323	-4.855	0.35225	T	.	.	0.163	0.35992	B	.	.	3.074357	0.41339	21.3	0.99801893830854504	0.88639	0.92542	0.55956	D	AEFDBCI	0.385491	0.46621	N	-0.174969276786347	0.34179	1.947773	0.00327527721614282	0.39867	2.370386	0.999999999947417	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	5.17	0.70848	3.705000	0.54553	4.033000	0.41356	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.966000	0.53164	0.0:0.9277:0.0:0.0723	14.532	0.67521	555	0.71762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2108.98	43	chr6	109466273	.	C	T	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.856;DP=1021;ExcessHet=0.0000;FS=4.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-7.090e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/1:105,84:189:99:2123,0,2722	20	0	1	0
chr6	109573542	109573542	C	A	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon21:c.G2244T:p.L748F,	.	.	.	.	.	.	.	.	.	.	.	2387075	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	.	.	0.999	N	0.345	N	-0.12	T	-1.039	T	0.035	T	0.05	0.270	5.460	-2.84	-0.464	-0.457	3.206	0.019	0.02445058367	.	0.000199681	0.0003	0	0	0.0016	0	0.0002	0	0.0003	6.47e-05	10	154602	rs188116177	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	9.505e-05	0	0.0018	0.0006	0.0023	0	0.0001	0.0004	0.0003	0.0004	0.0004	0.0002	0.0006	0.0027	0.0003	0.0003	0.0016	0.0013	4.813e-05	0	0	0.0012	0.0027	0.0022	0	0.0002	0.0014	0.0002	0.705	0.04107	T	0.065	0.44702	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.21670	N	0.55	0.14455	N	-0.12	0.64630	T	-0.19	0.09965	N	0.1	0.08227	-1.0393	0.17526	T	0.035	0.15117	T	8	0.00617823	0.00139	T	0.024451	0.47438	T	0.019	0.03383	0.244	0.17830	0.0716867268079	0.06686	0.016941539727795673	0.01649	0.140397205574	0.15837	0.285009175539	0.08201	T	0.005546	0.05002	T	-0.545291	0.00311	T	-0.68479	0.06695	T	0.00233769544694837	0.00024	T	0.257774	0.04077	T	0.030868353	0.02826	0.043792445	0.05529	0.030868353	0.02826	0.043792445	0.05529	-4.543	0.31447	T	.	.	0.080	0.07841	B	.	.	-0.254717	0.02823	0.391	0.61817863557207786	0.06804	0.00167	0.00991	N	AEFI	0.026804	0.02075	N	-1.50415258766926	0.01822	0.0798861	-1.5418833942847	0.02032	0.09289512	3.21258526507821E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.32	-2.84	0.05408	-0.470000	0.06717	0.063000	0.14158	-0.975000	0.01921	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3036:0.4664:0.0902:0.1397	3.206	0.06271	683	0.59664	.	.	.	.	.	.	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	933.98	33	chr6	109573542	.	C	A	933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.484;DP=818;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=-3.000e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/1:73,43:116:99:948,0,1777	20	0	1	0
chr6	117503884	117503884	G	A	exonic	DCBLD1	.	nonsynonymous SNV	DCBLD1:NM_001366458:exon2:c.G230A:p.G77E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	N	1.000	D	2.815	M	1.64	T	-0.695	T	0.168	T	0.873	4.149	21.4	4.35	1.572	7.293	14.392	0.527	0.0570685333418	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs755093205	8.893e-06	8.893e-06	9.529e-06	8.251e-06	9.892e-06	4.96e-06	3.82e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	3.312e-05	0	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.0	0.92824	D	0.999	0.90584	D	0.919	0.97372	D	0.000001	0.84330	N	0.055712	0.997774	0.44180	D	3.02	0.86243	M	1.64	0.27822	T	-5.74	0.87687	D	0.793	0.79599	-0.6950	0.60675	T	0.168	0.50826	T	10	0.9320244	0.92538	D	0.057069	0.66835	D	0.527	0.80007	0.788	0.91068	0.563544018958	0.56017	0.5278652751054703	0.52710	0.907193985159	0.70892	0.638733506203	0.58384	T	0.198116	0.55500	T	0.166	0.70718	D	0.063742	0.74493	D	0.982298731803894	0.74407	D	0.810419	0.46176	T	0.593461	0.72338	0.6438594	0.79183	0.593461	0.72339	0.6438594	0.79184	-9.909	0.73690	D	.	.	0.191	0.40937	B	.;.	.;.	4.642911	0.73929	26.1	0.99746966779244461	0.83927	0.98153	0.80057	D	AEFBI	0.854035	0.77104	D	0.610342672782872	0.73828	6.030345	0.552707945257048	0.71585	5.677429	0.999999952811733	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.21	4.35	0.51454	7.729000	0.83815	8.591000	0.77687	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0711:0.0:0.9289:0.0	14.392	0.66554	714	0.56256	.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	952.98	34	chr6	117503884	.	G	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=827;ExcessHet=0.0000;FS=3.425;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.88;ReadPosRankSum=-6.260e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:78,43:121:99:967,0,1935	20	0	1	0
chr6	117545558	117545558	A	T	exonic	DCBLD1	.	nonsynonymous SNV	DCBLD1:NM_001366460:exon13:c.A1488T:p.R496S	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.001	B	0.008	N	1.000	N	0.695	N	1.39	T	-0.813	T	0.223	T	0.288	1.469	10.86	-1.49	-0.383	0.491	1.841	0.117	.	0.0002	0.00459265	0.0016	9.61e-05	0.0003	0.0103	0.0002	0.0003	0.0022	0.0047	0.0015782	244	154602	rs116943808	0.0008	0.0008	0.0006	0.0009	0.0117	0.0007	0.0007	0.0108	0.0105	0	0.0005	0	0.0117	9.363e-05	0.0009	0.0001	0.0013	0.0046	0.0008	0.0008	0.0008	0.0009	0.0137	0.0007	0.0007	0.0111	0.0102	4.811e-05	0	0.0007	0	0.0137	0	0.0034	0.0001	0.0028	0.0048	0.734	0.04120	T	0.377	0.16134	T	0.0	0.02946	B	0.001	0.04355	B	0.007779	0.31206	N	0.321251	1	0.08975	N	.	.	.	-2.74	0.90735	D	-0.7	0.19933	N	0.233	0.26233	-0.8128	0.54380	T	0.223	0.58678	T	10	0.0028616488	0.00046	T	.	.	.	0.117	0.32689	0.216	0.13643	0.66879460378	0.66600	0.09839727743343613	0.09770	0.208867292392	0.23351	0.377548485994	0.21908	T	0.005597	0.05051	T	-0.34961	0.04751	T	-0.263936	0.48430	T	0.00676785233265008	0.00076	T	0.581242	0.21111	T	0.036544368	0.04515	0.054580867	0.09415	0.036544368	0.04515	0.054580867	0.09414	-1.321	0.04604	T	.	.	0.091	0.18950	B	.;.	.;.	0.896118	0.12701	9.220	0.88392452955355039	0.17941	0.11049	0.16373	N	AEFBCI	0.086281	0.17493	N	-0.905734158961417	0.10707	0.5129736	-0.875304853091769	0.12681	0.6536939	0.999988897257857	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.23	-1.49	0.08259	0.497000	0.22222	0.546000	0.19377	0.691000	0.84096	0.239000	0.24738	0.000000	0.08366	0.982000	0.59238	0.4777:0.1264:0.2741:0.1218	1.841	0.02958	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1020.98	33	chr6	117545558	.	A	T	1020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=848;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-6.330e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1035,0,1165	20	0	1	0
chr6	118975984	118975984	T	C	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon12:c.A2156G:p.N719S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.003	B	0.013	B	0.043	N	1.000	D	1.61	L	2.58	T	-0.942	T	0.014	T	0.02	0.297	5.607	-2.89	-0.835	-0.182	10.866	0.051	0.00278515324792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.318	0.19246	T	0.003	0.11197	B	0.013	0.16460	B	0.043193	0.23764	N	0.474960	0.927997	0.27131	N	1.95	0.52479	M	2.52	0.21666	T	-0.23	0.12283	N	0.05	0.04913	-0.9420	0.42298	T	0.014	0.05705	T	10	0.02553171	0.00744	T	0.002785	0.05781	T	0.051	0.14325	0.135	0.03920	0.0482279557977	0.04254	0.05908708837999286	0.05848	0.114882793964	0.12965	0.255550801754	0.04375	T	0.004406	0.06247	T	-0.353972	0.04483	T	-0.746233	0.03635	T	0.0854333937168121	0.10667	T	0.854015	0.59977	D	0.031558435	0.03017	0.037560426	0.03434	0.031558435	0.03017	0.037560426	0.03434	-2.053	0.03388	T	.	.	0.052	0.00280	B	.;.;.;.;.;.	.;.;.;.;.;.	0.438904	0.08091	4.818	0.67561984020219845	0.08392	0.46201	0.27707	N	AEFI	0.133063	0.25259	N	-0.963977134281525	0.09381	0.4437643	-0.913070484706453	0.11784	0.6025158	2.59677408594814E-4	0.06190	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	-2.89	0.05326	-0.004000	0.12813	-0.255000	0.10474	-0.311000	0.06080	0.697000	0.28597	0.211000	0.23643	0.991000	0.66497	0.0:0.4317:0.0:0.5683	10.866	0.46063	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	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	61.27	33	chr6	118975984	.	T	C	61.27	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.654e+00;DP=942;ExcessHet=0.6776;FS=108.073;InbreedingCoeff=-0.1017;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=1.59;SOR=9.553	GT:AD:DP:GQ:PL	0/1:31,10:41:46:46,0,520	17	0	4	0
chr6	129280072	129280072	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon18:c.C2462T:p.T821M	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	YES	1	1515	6	0	0	6	0.00197628	.	.	172223	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|not_specified|Intellectual_disability|not_provided|LAMA2-related_muscular_dystrophy	MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	N	1.000	D	3.1	M	0.01	T	-0.061	T	0.405	T	0.414	3.111	16.39	3.96	0.780	3.574	12.755	0.537	0.534587470134	0.0024	0.000798722	0.0020	0.0005	0.0004	0.0007	0.0036	0.0028	0.0022	0.0013	0.0020246	313	154602	rs117422805	0.0024	0.0024	0.0024	0.0023	0.0026	0.0023	0.0023	0.0026	0.0025	0.0003	0.0008	0.0008	0.0012	0.0034	0.0017	0.0026	0.0018	0.0012	0.0017	0.0017	0.0018	0.0016	0.0026	0.0015	0.0014	0.0023	0.0022	0.0005	0.0011	0.0007	0.0006	0.0004	0.0036	0	0.0026	0.0005	0.0010	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	N	0.059782	0.999949	0.51968	D	3.79	0.95329	H	0.01	0.62459	T	-4.52	0.78302	D	0.562	0.78832	-0.0613	0.80965	T	0.405	0.75508	T	10	0.055688918	0.06126	T	0.534587	0.95638	D	0.537	0.80605	.	.	0.846110259052	0.84463	0.3969284616517866	0.39607	0.468827387035	0.46213	0.300332546234	0.10450	T	0.061939	0.59930	T	-0.30263	0.08413	T	-0.207354	0.53948	T	0.0803849729750813	0.10036	T	0.779622	0.41374	T	0.7606475	0.81491	0.6352263	0.78706	0.67856455	0.76893	0.7139694	0.83121	-11.775	0.83737	D	0.7108184403532831	0.79101	0.139	0.30291	B	.;.;.	.;.;.	3.224412	0.43945	21.8	0.99795527719205557	0.88106	0.95066	0.63314	D	AEFGBI	0.562920	0.57032	D	0.330916226444623	0.57741	3.942723	0.244956140587324	0.52362	3.411625	0.993352472638288	0.33183	0.549168	0.22868	0	0.573888	0.26702	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.72	3.96	0.45097	3.643000	0.54109	0.861000	0.22228	-0.860000	0.02636	0.995000	0.38783	0.275000	0.24072	0.661000	0.32996	0.0:0.8665:0.0:0.1335	12.755	0.56701	808	0.43318	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-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	1	0	0	0	0	0	0	0.02381	3386.98	33	chr6	129280072	.	C	T	3386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.106;DP=972;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-7.700e-02;SOR=0.696	GT:AD:DP:GQ:PL	0/1:134,142:276:99:3401,0,3120	20	0	1	0
chr6	142078794	142078794	C	T	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon2:c.G88A:p.E30K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.953	D	0.000	D	1.000	D	3.18	M	1.2	T	-0.495	T	0.251	T	0.896	4.301	22.5	5.48	2.575	7.448	19.320	0.438	0.0687392231819	.	0.000199681	0.0002	0	0	0.0001	0	0	0	0.0016	0.0001811	28	154602	rs534826257	7.251e-05	7.251e-05	4.22e-05	0.0001	0.0011	6.114e-05	5.699e-05	0.0009	0.0009	0	0	0	2.519e-05	0	0	3.597e-06	9.934e-05	0.0011	4.606e-05	4.594e-05	2.573e-05	6.733e-05	0.0013	2.112e-05	1.529e-05	0.0005	0.0004	2.413e-05	0	0	0	0	0	0	0	0	0.0013	0.005	0.63226	D	0.099	0.38891	T	0.995	0.67487	D	0.953	0.69275	D	0.000002	0.62929	D	0.102197	1	0.81001	D	3.85	0.95769	H	1.2	0.37405	T	-1.93	0.44852	N	0.86	0.85660	-0.4947	0.68839	T	0.251	0.62027	T	10	0.6358489	0.68777	D	0.068739	0.70536	D	0.438	0.74235	0.769	0.89609	0.852914925006	0.85150	0.9302849642915699	0.93007	0.303414013437	0.32666	0.611261129379	0.54494	T	0.164871	0.51050	T	-0.0482845	0.44707	T	0.122488	0.78399	D	0.447159948542649	0.30693	T	0.975902	0.91565	D	0.78376144	0.82886	0.49072844	0.70538	0.78376144	0.82887	0.49072844	0.70538	-10.765	0.78353	D	.	.	0.859	0.80249	P	.	.	4.944358	0.81627	27.6	0.99926968818285389	0.99163	0.99588	0.97739	D	AEFBI	0.917621	0.88550	D	0.763839601801499	0.83804	8.114101	0.66274266074175	0.79563	7.108862	0.999999997468233	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	7.565000	0.81337	7.606000	0.61733	0.543000	0.25316	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:1.0:0.0:0.0	19.320	0.94221	928	0.17405	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2784.98	33	chr6	142078794	.	C	T	2784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.30;DP=936;ExcessHet=0.0000;FS=2.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.970;SOR=0.884	GT:AD:DP:GQ:PL	0/1:116,109:225:99:2799,0,2592	20	0	1	0
chr6	146733907	146733907	G	A	exonic	ADGB	.	nonsynonymous SNV	ADGB:NM_024694:exon22:c.G2671A:p.V891I,	.	.	426	1057	36	3	0	42	0.0194805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.0	B	0.0	B	.	.	1.000	N	1.265	L	1.49	T	-1.032	T	0.019	T	0.079	0.701	7.741	-9.47	-2.313	-2.250	14.096	0.027	.	0.0042	0.00559105	0.0110	0.0009	0.0074	0	0.0006	0.0072	0.0205	0.0209	0.0023415	362	154602	rs61742778	0.0044	0.0043	0.0039	0.0050	0.0215	0.0044	0.0043	0.0206	0.0203	0.0004	0.0022	0.0102	0.0001	0.0019	0.0116	0.0034	0.0049	0.0215	0.0030	0.0030	0.0027	0.0033	0.0199	0.0028	0.0027	0.0167	0.0155	0.0006	0.0066	0.0014	0.0092	0	0.0008	0.0068	0.0038	0.0043	0.0199	0.599	0.05652	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.365	0.12025	N	1.49	0.31470	T	-0.22	0.10480	N	0.046	0.01825	-1.0320	0.19809	T	0.019	0.07753	T	9	0.002518624	0.00038	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.039220856352879786	0.03868	.	.	0.313933312893	0.12501	T	0.006145	0.05579	T	-0.711101	0.00031	T	-0.777968	0.02516	T	0.00170575897135944	0.00017	T	0.347365	0.07649	T	0.024575064	0.01303	0.039445285	0.04040	0.024575064	0.01303	0.039445285	0.04039	-2.225	0.04163	T	.	.	0.073	0.04764	B	.	.	-0.893189	0.00937	0.036	0.48854782117413253	0.04111	0.01048	0.03908	N	AEFI	0.031432	0.03361	N	-1.77433703604253	0.00611	0.02633791	-1.89504143448668	0.00501	0.0221883	0.982981029885129	0.30486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	-9.47	0.00501	-1.417000	0.02571	-2.776000	0.03373	-1.368000	0.01174	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.7165:0.1052:0.1783:0.0	14.096	0.64548	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	835.98	39	chr6	146733907	.	G	A	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=773;ExcessHet=0.0000;FS=1.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=-1.070e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:43,39:82:99:850,0,946	20	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.993	D	0.956	D	0.000	D	1.000	D	1.085	L	-0.73	T	-0.607	T	0.286	T	0.153	0.616	7.317	4.81	1.084	8.730	12.018	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	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	0.07143	218.82	33	chr6	149378547	.	A	G	218.82	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.274e+00;DP=1804;ExcessHet=0.3300;FS=161.434;InbreedingCoeff=-0.0800;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=2.06;SOR=10.902	GT:AD:DP:GQ:PL	0/1:194,60:254:76:76,0,4113	18	0	3	0
chr6	149890817	149890817	C	A	exonic	RAET1E	.	nonsynonymous SNV	RAET1E:NM_001243327:exon1:c.G85T:p.G29C	.	.	416	1104	2	0	0	2	0.000904977	0.9898	0.776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.956	D	.	.	1.000	N	1.1	L	2.75	T	-1.071	T	0.015	T	0.534	1.459	10.82	-3.58	-1.146	-3.567	1.488	0.254	0.00186443068553	0.0002	0.000399361	0.0004	0	0	0	0	0.0002	0	0.0020	0.0002911	45	154602	rs199529072	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	0	0.0005	0	0	0.0007	0.0001	0.0002	0.0017	0.0001	0.0001	0.0001	0.0001	0.0017	6.506e-05	5.318e-05	0.0008	0.0006	0	0	0	0.0006	0	0	0	8.82e-05	0	0.0017	0.019	0.57480	D	0.062	0.53788	T	0.995	0.68779	D	0.95	0.69739	D	.	.	.	.	1	0.08975	N	.	.	.	2.75	0.11622	T	-2.11	0.49018	N	0.152	0.16308	-1.0708	0.09238	T	0.015	0.05994	T	8	0.012346655	0.00266	T	0.001864	0.03245	T	0.254	0.56428	.	.	0.221019684889	0.21715	0.3067023239143956	0.30583	0.34700166408	0.36595	0.21996742487	0.01308	T	0.048157	0.27935	T	-0.524366	0.00415	T	-0.545006	0.17808	T	0.122326938529558	0.14655	T	0.539346	0.20701	T	0.15528727	0.35103	0.087715395	0.20407	0.15528727	0.35103	0.087715395	0.20406	-5.921	0.45614	T	.	.	0.200	0.44553	B	.;.;.;.	.;.;.;.	1.028302	0.14083	10.65	0.98375221445380967	0.40791	0.00387	0.01950	N	ALL	0.055401	0.10157	N	-0.876216574487258	0.11410	0.5504849	-1.19868894951443	0.05932	0.2840767	0.999999999991442	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	1.79	-3.58	0.04303	-3.576000	0.00475	-8.738000	0.00921	-1.106000	0.01499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.198:0.258:0.3926:0.1514	1.488	0.02304	398	0.82839	.;.;.;.	.	.	.	.	.	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	710.98	33	chr6	149890817	.	C	A	710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=785;ExcessHet=0.0000;FS=0.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.01;ReadPosRankSum=-3.870e-01;SOR=0.545	GT:AD:DP:GQ:PL	0/1:39,32:71:99:725,0,1053	20	0	1	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	0/1:133,45:190:37:37,0,3095	9	0	6	6
chr6	154832908	154832908	A	G	exonic	SCAF8	.	nonsynonymous SNV	SCAF8:NM_014892:exon20:c.A3329G:p.Y1110C	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.681	P	0.215	B	0.031	U	0.998	N	0.695	N	0.9	T	-1.020	T	0.025	T	0.297	2.180	13.24	-11.5	-1.473	0.259	18.554	0.077	0.00555965951613	.	.	4.957e-05	0	0.0003	0	0	1.5e-05	0	6.061e-05	4.53e-05	7	154602	rs772798509	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0002	1.111e-05	9.33e-06	0.0001	9.193e-05	0	0.0002	0	0	0	0	1.079e-05	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.045	0.46513	D	0.123	0.36233	T	0.681	0.41422	P	0.215	0.37512	B	0.030885	0.25245	U	0.372495	1	0.22236	N	0.805	0.20218	L	0.9	0.46028	T	-2.05	0.47008	N	0.251	0.33904	-1.0202	0.23649	T	0.025	0.10598	T	10	0.08738288	0.14947	T	0.00556	0.14349	T	0.077	0.22490	0.266	0.21261	0.110392049598	0.10638	0.09077856278488655	0.09010	0.340426833896	0.35984	0.630356490612	0.57196	T	0.041503	0.25880	T	-0.37757	0.03227	T	-0.486643	0.23744	T	0.0591438739753122	0.07033	T	0.927907	0.73422	D	0.08924125	0.20846	0.15241167	0.35859	0.08924125	0.20845	0.15241167	0.35858	-5.604	0.42829	T	.	.	0.090	0.28348	B	.;.;.	.;.;.	2.482001	0.32005	18.91	0.94622216752877808	0.25201	0.66957	0.33260	D	AEFDBI	0.154104	0.27908	N	-1.00586118964388	0.08481	0.3978343	-1.09404501296518	0.07817	0.3817461	0.999999770142067	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.73	-11.5	0.00057	0.178000	0.16634	1.237000	0.25081	-0.103000	0.15852	0.962000	0.33725	0.758000	0.26602	0.856000	0.40543	0.1567:0.0:0.0:0.8433	18.554	0.91028	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	0.02381	1350.98	33	chr6	154832908	.	A	G	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.29;DP=867;ExcessHet=0.0000;FS=2.193;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=2.31;SOR=0.505	GT:AD:DP:GQ:PL	0/1:85,56:141:99:1365,0,2132	20	0	1	0
chr6	156778292	156778292	-	CAG	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.612_613insCAG:p.Q214_H215insQ	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207347	ARID1B-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111	.	0.0068	0.0012	0.0057	0	0	0.0008	0.0137	0.0120	0.0003458	9	26028	rs1295097336	0.0017	0.0017	0.0014	0.0021	0.0116	0.0017	0.0016	0.0109	0.0107	0.0108	0.0008	0.0026	0.0042	0.0001	0.0005	0.0007	0.0017	0.0116	0.0039	0.0039	0.0039	0.0039	0.0132	0.0037	0.0036	0.0106	0.0098	0.0110	0	0.0007	0.0023	0.0034	0	0.0035	0.0010	0.0040	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	849.94	36	chr6	156778292	.	A	ACAG	849.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=852;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=-5.520e-01;SOR=0.790	GT:AD:DP:GQ:PL	0/1:27,26:53:99:864,0,1009	20	0	1	0
chr6	158502650	158502650	T	C	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.T2987C:p.L996P,	.	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.884	P	0.657	P	0.000	D	1.000	D	1.7	L	-0.41	T	-0.638	T	0.219	T	0.789	2.635	14.77	3.13	1.741	5.436	10.589	0.403	0.20433020624	.	.	6.175e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs201772574	6.947e-05	6.772e-05	6.814e-05	7.082e-05	0.0021	5.816e-05	5.396e-05	0.0012	0.0010	0	0	0	0	0	0.0021	7.197e-05	0.0001	2.393e-05	6.572e-05	6.562e-05	6.428e-05	6.722e-05	0.0001	3.517e-05	2.616e-05	5.846e-05	4.242e-05	0	0	0	0	0	0	0.0068	0.0001	0	0	0.037	0.43085	D	0.252	0.23570	T	0.884	0.48618	P	0.657	0.52725	P	0.000038	0.55875	D	0.073574	0.999999	0.81001	D	1.545	0.39105	L	-0.41	0.69413	T	-1.3	0.32590	N	0.854	0.85027	-0.6382	0.63222	T	0.219	0.58150	T	10	0.7101394	0.72991	D	0.20433	0.86925	D	0.403	0.71636	0.394	0.41935	0.494500015766	0.49084	0.6519271474819677	0.65128	0.819386861331	0.67090	0.858804345131	0.90934	D	0.024141	0.18296	T	-0.004859	0.50982	T	-0.0190543	0.69090	D	0.298896491527557	0.24958	T	0.731927	0.34732	T	0.36737302	0.58390	0.36896607	0.62176	0.36737302	0.58390	0.36896607	0.62176	-3.782	0.20536	T	.	.	0.252	0.48644	B	.	.	3.635967	0.51531	23.1	0.99686756375880503	0.79641	0.98046	0.79143	D	AEFDBI	0.727048	0.67552	D	0.306607281987457	0.56487	3.813483	0.26509343879709	0.53514	3.519808	0.995767244480802	0.34312	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.39	3.13	0.35090	4.326000	0.59028	4.006000	0.41118	0.602000	0.45918	1.000000	0.71638	0.999000	0.35428	0.652000	0.32748	0.1439:0.0:0.0:0.8561	10.589	0.44490	693	0.58582	.	.	.	.	.	.	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	989.98	56	chr6	158502650	.	T	C	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.649;DP=1329;ExcessHet=0.0000;FS=0.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.587;SOR=0.517	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1004,0,964	20	0	1	0
chr6	159777362	159777362	G	A	exonic	ACAT2	.	nonsynonymous SNV	ACAT2:NM_001303253:exon7:c.G905A:p.G302E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.833	P	0.000	D	1.000	D	3.4	M	-0.33	T	0.187	D	0.465	T	0.708	4.510	24.2	5.02	1.447	5.303	16.032	0.499	0.0834895799202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1363532082	2.736e-06	2.736e-06	5.445e-06	0	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	0.993	0.65571	D	0.752	0.56092	P	0.000001	0.84330	D	0.094149	1	0.81001	D	3.045	0.86684	M	-0.33	0.68329	T	-6.16	0.90215	D	0.511	0.54234	0.187	0.85695	D	0.465	0.79323	T	10	0.7296349	0.74209	D	0.08349	0.74126	D	0.499	0.78288	.	.	0.898084378902	0.89706	0.8063237994901027	0.80587	0.324793968335	0.34632	0.483395785093	0.36524	T	0.668193	0.90121	D	0.0502067	0.58371	T	0.00347016	0.70561	D	0.988602221012115	0.78915	D	0.980102	0.93255	D	0.91601473	0.92862	0.84792215	0.91365	0.91601473	0.92863	0.84792215	0.91365	-8.753	0.66093	D	.	.	0.219	0.44885	B	.	.	4.018641	0.59339	24.1	0.99766621172446335	0.85500	0.96037	0.67248	D	AEFDBHCI	0.916296	0.88230	D	0.643987401923978	0.75979	6.402887	0.560288476824584	0.72118	5.759426	0.999999999983493	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	5.02	0.66742	5.406000	0.66100	4.792000	0.44907	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8608:0.1392	16.032	0.80384	820	0.40914	.	.	.	.	.	.	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	1527.98	34	chr6	159777362	.	G	A	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.701;DP=1431;ExcessHet=0.0000;FS=0.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=-1.220e-01;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,68:136:99:0|1:159777362_G_A:1542,0,2632:159777362	20	0	1	0
chr6	168060794	168060794	G	A	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_001122841:exon9:c.C1105T:p.R369C	.	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.022	B	0.004	B	0.013	N	1.000	N	0.69	N	0.91	T	-1.057	T	0.023	T	0.069	0.296	5.604	-0.635	-0.350	-0.079	0.780	0.012	0.00326048903688	0.0019	0.000798722	0.0017	0.0002	0.0005	0	0.0002	0.0028	0.0012	0.0009	0.0017594	272	154602	rs138998311	0.0021	0.0021	0.0022	0.0019	0.0025	0.0020	0.0020	0.0024	0.0023	0.0004	0.0009	7.657e-05	5.045e-05	0.0002	0.0014	0.0025	0.0020	0.0009	0.0016	0.0016	0.0016	0.0015	0.0026	0.0014	0.0013	0.0022	0.0021	0.0004	0	0.0025	0	0	0.0002	0.0034	0.0026	0.0028	0	0.184	0.21634	T	0.139	0.33666	T	0.022	0.18677	B	0.002	0.10090	B	0.012743	0.01344	N	8.020120	0.999993	0.18198	N	1.1	0.28011	L	0.91	0.44856	T	-0.01	0.07155	N	0.073	0.06454	-1.0571	0.12491	T	0.023	0.09878	T	10	0.0038239658	0.00072	T	0.00326	0.07207	T	0.012	0.01476	.	.	0.252681307341	0.24864	0.1189813384029836	0.11825	0.137692390761	0.15523	0.184349939227	0.00141	T	0.003407	0.02809	T	-0.654641	0.00068	T	-0.716801	0.04951	T	0.00531881751882126	0.00058	T	0.49905	0.15685	T	0.048853654	0.08583	0.028177096	0.01030	0.048853654	0.08582	0.028177096	0.01030	-3.549	0.17125	T	.	.	0.073	0.08948	B	.;.;.;.;.	.;.;.;.;.	0.391025	0.07625	4.290	0.83489620814131571	0.14754	0.00941	0.03634	N	AEFDGBHCI	0.117494	0.23015	N	-1.60752478420655	0.01227	0.05337364	-1.66385750188734	0.01306	0.05891708	0.999999203270325	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	2.48	-0.635	0.10934	0.155000	0.16180	-0.055000	0.12496	-3.397000	0.00089	0.039000	0.20931	0.001000	0.17328	0.000000	0.00833	0.4347:0.1729:0.2181:0.1743	0.780	0.00973	988	0.01987	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	628.98	34	chr6	168060794	.	G	A	628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.673;DP=798;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.07;ReadPosRankSum=1.45;SOR=0.523	GT:AD:DP:GQ:PL	0/1:58,31:89:99:643,0,1317	20	0	1	0
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|1:0,59,0:59:99:1|1:170561949_GCAA_G:2334,183,0,2335,184,2337:170561949	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|1:65,42,0,0:107:99:0|1:170561949_GCAA_G:1164,0,2453,1245,2265,4368,1245,2265,4368,4368:170561949	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|1:54,65,0:119:99:1|0:170561949_GCAA_G:2391,0,2017,2235,2377,5406:170561949	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,38,0:95:99:1|0:170561949_GCAA_G:2381,0,2123,2223,2472,5423:170561949	14	1	5	0
chr7	195594	195594	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon2:c.G646A:p.G216R,	Raine syndrome, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	192514	not_provided|not_specified|FAM20C-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.997	D	0.849	P	0.017	N	1.000	D	2.24	M	-0.98	T	-0.275	T	0.395	T	0.278	3.052	16.19	3.89	1.093	8.339	14.543	0.395	0.164127152415	0.0045	0.00339457	0.0047	0.0015	0.0049	0.0001	0.0009	0.0063	0.0080	0.0036	0.0045989	711	154602	rs61734970	0.0066	0.0066	0.0066	0.0066	0.0077	0.0065	0.0064	0.0075	0.0075	0.0012	0.0054	0.0006	0	0.0021	0.0021	0.0077	0.0068	0.0030	0.0050	0.0050	0.0051	0.0048	0.0075	0.0047	0.0045	0.0070	0.0067	0.0016	0.0176	0.0069	0.0003	0	0.0018	0	0.0075	0.0080	0.0043	0.198	0.20532	T	0.127	0.35082	T	0.997	0.70673	D	0.849	0.60615	P	0.017052	0.27821	N	0.285622	0.999971	0.53665	D	.	.	.	-0.98	0.75789	T	-3.25	0.65283	D	0.726	0.72746	-0.2745	0.75689	T	0.395	0.74764	T	10	0.010534644	0.00234	T	0.164127	0.84331	D	0.395	0.71004	0.451	0.51285	0.502820412485	0.49921	0.6607767860460201	0.66014	0.67202664392	0.59506	0.599855780602	0.52883	T	0.01284	0.11210	T	-0.312826	0.07501	T	-0.216438	0.53079	T	0.0495577196195617	0.05423	T	0.829517	0.49484	T	0.10354379	0.24474	0.14994851	0.35384	0.10354379	0.24474	0.14994851	0.35383	-5.667	0.43399	T	.	.	0.098	0.16451	B	.	.	5.457009	0.91119	32	0.99888620816608342	0.96281	0.93999	0.59809	D	AEFDBCI	0.902194	0.84979	D	0.338637900873239	0.58142	3.984861	0.249116664185057	0.52600	3.43373	0.999999999187743	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.81	3.89	0.44098	8.682000	0.90955	9.745000	0.81450	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.099000	0.18236	0.0:0.148:0.852:0.0	14.543	0.67599	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1710.98	36	chr7	195594	.	G	A	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.703;DP=876;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-2.535e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/1:85,76:161:99:1725,0,1822	20	0	1	0
chr7	290724	290724	A	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.A179G:p.D60G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63e-05	0.0011	6.045e-05	3.178e-05	0.0001	3.646e-05	3.338e-05	4.892e-05	3.359e-05	0.0001	0	0	0	0	0	4.873e-05	7.462e-05	3.043e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69150114	0.71883	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847515	0.52873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.65890	A	.	.	3.722634	0.53211	23.3	0.87352862521545771	0.17166	0.97287	0.73806	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999893991610557	0.45129	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.824066	0.49261	4.4	4.4	0.52402	8.347000	0.89966	9.080000	0.78714	0.555000	0.28237	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.617	0.61584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	74.31	37	chr7	290724	.	A	G	74.31	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.580e+00;DP=650;ExcessHet=0.6776;FS=103.212;InbreedingCoeff=-0.1064;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.53;ReadPosRankSum=-8.760e-01;SOR=7.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,4:28:8:0|1:290724_A_G:8,0,615:290724	16	0	4	1
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|1:11,13:24:88:0|1:290724_A_G:158,0,88:290724	5	0	14	2
chr7	1485450	1485450	G	A	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon23:c.C2996T:p.S999L,	.	.	400	1119	3	0	0	3	0.00133869	.	.	2336125	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.8	P	0.107	B	0.006	N	0.604	N	1.59	L	0.82	T	-0.753	T	0.112	T	0.291	1.500	10.96	5.01	2.334	3.960	18.334	0.084	0.041381654173	8e-05	.	8.666e-05	0	0	0	0	9.472e-05	0.0012	0.0002	6.47e-05	10	154602	rs372589403	6.575e-05	6.567e-05	5.179e-05	7.985e-05	0.0016	5.501e-05	5.113e-05	0.0008	0.0006	2.987e-05	0	0	2.519e-05	0	0.0016	4.767e-05	0.0002	0.0003	4.6e-05	4.597e-05	5.14e-05	4.034e-05	7.239e-05	2.109e-05	1.527e-05	1.972e-05	1.125e-05	7.239e-05	0	0	0	0	0	0	5.881e-05	0	0	0.033	0.44358	D	0.015	0.61642	D	0.135	0.27304	B	0.047	0.24832	B	0.005925	0.32398	N	0.265929	0.604008	0.30917	N	2.08	0.57402	M	0.82	0.48142	T	-2.74	0.58248	D	0.409	0.44952	-0.7533	0.57763	T	0.112	0.40145	T	10	0.25078282	0.42409	T	0.041382	0.59899	D	0.084	0.24469	.	.	0.454426139905	0.45068	0.298771364830425	0.29790	.	.	0.579743027687	0.50050	T	0.268225	0.64033	T	-0.318685	0.07006	T	-0.416111	0.31522	T	0.0523477108051921	0.05908	T	0.961304	0.85476	D	0.14207484	0.32711	0.1615772	0.37576	0.14207484	0.32711	0.1615772	0.37575	-7.735	0.59251	D	.	.	0.126	0.26638	B	.	.	4.176611	0.62841	24.5	0.97921739256859286	0.36893	0.93823	0.59293	D	AEFGBCI	0.394357	0.47164	N	-0.0354333674138677	0.40256	2.387547	0.000743418689224479	0.39750	2.361692	0.993292688445879	0.33159	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	4.058000	0.57176	9.686000	0.81259	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.473000	0.28408	0.0:0.0:1.0:0.0	18.334	0.90222	923	0.18507	.	.	.	.	.	.	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	1201.98	35	chr7	1485450	.	G	A	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=788;ExcessHet=0.0000;FS=0.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=-1.400e-02;SOR=0.736	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1216,0,1048	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	0/1:20,18,0:38:99:.:.:514,0,440,571,494,1065	0	6	14	0
chr7	5919961	5919961	G	C	exonic	CCZ1	.	nonsynonymous SNV	CCZ1:NM_015622:exon12:c.G1101C:p.M367I,	.	.	.	.	.	.	.	.	.	.	.	3424830	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	0.998	N	-1.245	N	.	.	-0.998	T	0.006	T	0.083	-0.772	0.754	-2.58	-0.764	0.211	5.929	0.074	0.0115101475763	.	.	1.694e-05	0	0	0	0	3.1e-05	0	0	3.84e-05	1	26028	rs192141490	3.543e-05	0.0011	2.117e-05	4.982e-05	0.0002	2.725e-05	2.46e-05	9.67e-06	7.9e-06	0	2.277e-05	0	0	0.0006	0.0002	1.587e-05	3.432e-05	0	7.03e-06	4.787e-05	0	1.441e-05	1.567e-05	0	0	.	.	0	0	0	0	0	0	0	1.567e-05	0	0	0.89	0.02483	T	0.811	0.03933	T	.	.	.	.	.	.	0.000083	0.51296	N	0.198789	0.998309	0.22236	N	.	.	.	.	.	.	-0.18	0.09796	N	0.111	0.09772	-0.9979	0.30507	T	0.006	0.02055	T	9	0.053794503	0.05627	T	0.01151	0.29207	T	0.074	0.21613	0.565	0.68633	0.0675242888579	0.06100	0.17296740151018122	0.17216	.	.	0.451265633106	0.32117	T	0.006723	0.06148	T	-0.274644	0.11244	T	-0.632283	0.10242	T	0.390435785055161	0.28581	T	.	.	.	0.046799	0.07894	0.05908558	0.11029	0.046799	0.07894	0.05908558	0.11029	-2.819	0.08360	T	.	.	0.073	0.04723	B	.	.	0.054253	0.04668	1.318	0.50580859670054135	0.04409	0.80151	0.39866	D	AEFGI	0.414722	0.48387	N	-1.04873149152176	0.07612	0.3542169	-0.921207512785115	0.11594	0.5916112	9.83291363798019E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.88	-2.58	0.05866	0.206000	0.17174	-0.901000	0.06991	0.654000	0.53741	0.938000	0.32564	0.000000	0.08366	0.992000	0.67800	0.5037:0.1402:0.3561:0.0	5.929	0.18365	923	0.18507	.	.	.	.	.	.	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	0.05	113.06	35	chr7	5919961	.	G	C	113.06	.	AC=2;AF=0.050;AN=40;DP=1724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9378;MLEAC=1;MLEAF=0.025;MQ=24.19;QD=31.21;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:5919961_G_C:135,9,0:5919961	19	1	0	1
chr7	7572944	7572944	C	T	exonic	MIOS	.	nonsynonymous SNV	MIOS:NM_001370077:exon2:c.C469T:p.P157S	.	.	434	1087	0	1	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.0	B	0.000	D	1.000	D	-0.06	N	0.74	T	-1.071	T	0.065	T	0.11	0.062	4.337	5.32	2.941	1.953	11.472	0.091	0.00214407481956	.	.	3.317e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs764036994	1.437e-05	1.436e-05	4.084e-06	2.475e-05	0.0002	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	1.972e-05	1.969e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.033e-05	0	0	0	0	0	0	0	0	0	0.0006	0.176	0.22312	T	0.76	0.06147	T	0.0	0.02946	B	0.0	0.01387	B	0.000108	0.50451	D	0.173723	0.999833	0.49637	D	0.345	0.11182	N	0.74	0.50459	T	0.4	0.03463	N	0.147	0.14905	-1.0715	0.09086	T	0.065	0.26913	T	10	0.09358716	0.16575	T	0.002144	0.03989	T	0.091	0.26358	0.366	0.37361	0.480046427281	0.47636	0.16919716769481669	0.16839	0.230400222297	0.25588	0.429964601994	0.29203	T	0.016949	0.13915	T	-0.406572	0.02095	T	-0.547489	0.17567	T	0.0484422213025863	0.05223	T	0.751425	0.38711	T	0.042015158	0.06295	0.05603604	0.09939	0.042015158	0.06294	0.05603604	0.09939	-2.177	0.03930	T	.	.	0.069	0.04119	B	.;.;.	.;.;.	2.532519	0.32744	19.13	0.814659289765164	0.13699	0.83253	0.42385	D	AEFDGBCI	0.212359	0.33805	N	-0.196051530506343	0.33297	1.887554	0.046986355639376	0.41925	2.527149	0.99998771470119	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	1.985000	0.40289	3.957000	0.40718	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.1306:0.7272:0.1422:0.0	11.472	0.49522	670	0.60992	.;.;.	.	.	.	.	.	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	2551.98	33	chr7	7572944	.	C	T	2551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=878;ExcessHet=0.0000;FS=3.248;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=1.09;SOR=0.488	GT:AD:DP:GQ:PL	0/1:101,95:196:99:2566,0,2666	20	0	1	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	0/6:11,0,0,0,0,0,8:19:99:301,336,793,336,793,793,336,793,793,793,336,793,793,793,793,336,793,793,793,793,793,0,457,457,457,457,457,433	1	3	5	0
chr7	16537679	16537679	T	C	exonic	LRRC72	.	nonsynonymous SNV	LRRC72:NM_001195280:exon3:c.T217C:p.W73R,	.	.	450	1067	4	1	0	6	0.00280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	0.561	D	1.04	L	1.92	T	-0.989	T	0.063	T	0.805	3.542	18.07	5.34	2.023	3.851	11.747	0.248	.	.	0.00259585	0.0049	0	0	0	0	0	0	0.0105	0.0006468	100	154602	rs369407971	0.0006	0.0006	0.0003	0.0008	0.0098	0.0005	0.0005	0.0092	0.0090	3.284e-05	3.059e-05	0	0	2.086e-05	0.0004	5.673e-06	0.0006	0.0098	0.0004	0.0004	0.0003	0.0006	0.0128	0.0003	0.0003	0.0103	0.0093	0	0	0	0	0	0	0	0	0.0005	0.0128	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.561133	0.32214	D	0.635	0.15989	N	1.92	0.23082	T	-10.1	0.98876	D	0.51	0.54147	-0.9894	0.32753	T	0.063	0.26136	T	7	0.013631463	0.00288	T	.	.	.	0.248	0.55615	0.642	0.77903	0.454145904683	0.45038	0.4562916730438032	0.45547	.	.	0.725517988205	0.70852	T	0.12717	0.45403	T	-0.279474	0.10724	T	-0.166973	0.57720	T	0.166331296172008	0.18327	T	0.474053	0.14146	T	0.8252959	0.85578	0.76090217	0.85873	0.8252959	0.85580	0.76090217	0.85874	-8.387	0.63679	D	.	.	0.913	0.83659	P	.	.	4.532999	0.71174	25.6	0.99377389927531345	0.61715	0.85842	0.45021	D	AEFI	0.468123	0.51506	N	0.20033791177969	0.51216	3.304634	0.302086001222293	0.55660	3.729078	0.00461328751192363	0.10641	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	2.509000	0.45120	3.437000	0.38355	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.747	0.51091	930	0.16408	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	599.98	35	chr7	16537679	.	T	C	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.680e-01;DP=730;ExcessHet=0.0000;FS=1.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=0.865;SOR=0.467	GT:AD:DP:GQ:PL	0/1:30,30:60:99:614,0,678	20	0	1	0
chr7	20647548	20647548	T	C	exonic	ABCB5	.	nonsynonymous SNV	ABCB5:NM_001163941:exon10:c.T995C:p.V332A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.987	D	0.819	P	.	.	1.000	D	2.13	M	-2.55	D	0.399	D	0.719	D	0.396	2.011	12.68	2.93	0.914	5.562	9.171	0.594	0.081304607955	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747874478	7.727e-06	1.163e-05	6.954e-06	8.516e-06	3.743e-05	4.15e-06	3.03e-06	9.94e-06	4.76e-06	0	0	0	0	0	0	6.407e-06	1.696e-05	3.743e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.751759	0.81001	D	.	.	.	-2.55	0.89561	D	-3.48	0.67941	D	0.598	0.61680	0.399	0.89086	D	0.719	0.90368	D	9	0.80226314	0.79611	D	0.081305	0.73652	D	0.594	0.83857	0.648	0.78542	0.805750104807	0.80393	0.5243048292291198	0.52354	0.0254376419855	0.02595	0.541206002235	0.44615	T	0.33397	0.70376	T	0.0992939	0.64215	D	-0.0951476	0.63770	T	0.963668584823608	0.66726	D	0.483352	0.14674	T	0.4092572	0.61368	0.48713762	0.70319	0.4092572	0.61369	0.48713762	0.70320	-9.684	0.71998	D	.	.	0.433	0.61363	A	.	.	3.034815	0.40663	21.2	0.98505627099223114	0.42276	0.95442	0.64737	D	AEFBI	0.512851	0.54089	D	0.144107783649195	0.48533	3.064448	0.0322944088491009	0.41223	2.473089	0.0107126509399271	0.12070	0.487112	0.14033	0	0.573888	0.26702	0	0.563428	0.18855	0	0.613276	0.41899	0	.	.	4.09	2.93	0.33092	6.073000	0.70878	4.845000	0.45320	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0901:0.0:0.9099	9.171	0.36244	887	0.27948	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane 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	1328.98	34	chr7	20647548	.	T	C	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=821;ExcessHet=0.0000;FS=2.411;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.308;SOR=0.479	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1343,0,1332	20	0	1	0
chr7	21842729	21842729	C	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon66:c.C10877A:p.P3626Q,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1514	6	1	0	8	0.00263505	.	.	457232	Primary_ciliary_dyskinesia|not_provided	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	.	.	.	.	.	.	.	.	0.17	T	1.0	D	1.0	D	0.000	D	1.000	D	.	.	1.29	T	-0.733	T	0.234	T	0.602	4.421	23.5	5.36	2.514	4.092	17.872	0.297	.	.	0.00319489	0.0035	0.0001	0.0003	0	0	0.0001	0.0074	0.0231	0.0021927	339	154602	rs543364800	0.0012	0.0012	0.0006	0.0017	0.0181	0.0011	0.0011	0.0174	0.0171	8.998e-05	0.0001	0	0	0	0.0005	5.133e-05	0.0012	0.0181	0.0006	0.0006	0.0003	0.0010	0.0191	0.0005	0.0005	0.0159	0.0148	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0191	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.29	0.35775	T	-7.68	0.95574	D	0.655	0.69737	-0.7333	0.58796	T	0.234	0.60112	T	9	0.011086434	0.00244	T	.	.	.	0.297	0.61730	.	.	0.534955811369	0.53146	0.4803887249049406	0.47958	.	.	0.454489290714	0.32557	T	0.524052	0.83408	D	-0.33409	0.05808	T	-0.238393	0.50956	T	0.113040825222249	0.13736	T	0.988601	0.96130	D	0.5053534	0.67408	0.6308108	0.78463	0.69539404	0.77806	0.6627307	0.80233	-9.612	0.71554	D	0.8435680651421504	0.91150	0.306	0.53472	B	.;.;.	.;.;.	3.882109	0.56435	23.7	0.99380847544776907	0.61891	0.95066	0.63314	D	AEFI	0.681019	0.64452	D	0.634643801842917	0.75378	6.295346	0.634534339189621	0.77462	6.684346	0.999999800964993	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	4.161000	0.57954	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.872	0.88727	752	0.51611	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1230.98	34	chr7	21842729	.	C	A	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.947e+00;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=-1.598e+00;SOR=0.633	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1245,0,910	20	0	1	0
chr7	24679250	24679250	G	C	exonic	MPP6	.	nonsynonymous SNV	MPP6:NM_001303037:exon10:c.G1234C:p.G412R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.993	D	0.000	D	1.000	D	3.405	M	1.91	T	-0.415	T	0.264	T	0.866	5.255	33	5.97	2.837	9.869	20.428	0.565	0.0886706389413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.028	0.55759	D	0.999	0.77913	D	0.993	0.81110	D	0.000068	0.52346	D	0.000000	1	0.81001	D	3.825	0.95591	H	1.91	0.23283	T	-5.24	0.88767	D	0.856	0.85238	-0.4146	0.71563	T	0.264	0.63501	T	10	0.9472613	0.94054	D	0.088671	0.75178	D	0.565	0.82232	0.888	0.97226	0.587908032676	0.58465	0.920303388007737	0.92006	1.64548930497	0.89442	0.907022356987	0.97181	D	0.169855	0.51739	T	0.248509	0.78461	D	0.119189	0.78181	D	0.998522460460663	0.94393	D	0.987151	0.95601	D	0.8591695	0.88022	0.84184295	0.90960	0.8591695	0.88023	0.84184295	0.90961	-9.597	0.71461	D	.	.	0.845	0.79479	P	.;.;.	.;.;.	5.444100	0.90971	32	0.99944870263808461	0.99886	0.99312	0.94338	D	AEFBI	0.914214	0.87727	D	1.09138995377365	0.97971	17.14312	1.04387370962903	0.99310	21.83092	0.999999999999811	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.97	5.97	0.96935	10.003000	0.99689	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.428	0.99077	615	0.66512	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|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	0	0	0	0	0.04762	256.11	76	chr7	24679250	.	G	C	256.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.838e+00;DP=1517;ExcessHet=0.1072;FS=306.930;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=1.08;ReadPosRankSum=2.56;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,22:125:99:.:.:103,0,3023	19	0	2	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	1/1:0,156,0:156:99:.:.:5072,469,0,4876,468,5349	0	18	1	0
chr7	29072461	29072461	G	-	exonic	CPVL	.	frameshift deletion	CPVL:NM_001371264:exon11:c.614delC:p.P205Hfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	641.94	36	chr7	29072460	.	TG	T	641.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=686;ExcessHet=0.0000;FS=3.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-5.350e-01;SOR=1.429	GT:AD:DP:GQ:PL	0/1:20,21:41:99:656,0,623	20	0	1	0
chr7	30654806	30654806	G	C	exonic	CRHR2	.	nonsynonymous SNV	CRHR2:NM_001202483:exon12:c.C1098G:p.S366R,	.	.	417	1093	10	1	1	13	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0018	0	0	0	0	0.0031	0	0.0014	0.0006274	97	154602	rs73085814	0.0027	0.0026	0.0027	0.0027	0.0077	0.0026	0.0026	0.0059	0.0053	0.0007	0.0012	0.0012	0	0.0010	0.0077	0.0031	0.0024	0.0011	0.0019	0.0019	0.0019	0.0019	0.0029	0.0017	0.0016	0.0026	0.0025	0.0006	0	0.0017	0.0026	0	0.0007	0.0068	0.0029	0.0052	0.0015	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999683	0.20694	N	.	.	.	.	.	.	.	.	.	0.238	0.26837	.	.	.	.	.	.	.	0.011802286	0.00256	T	.	.	.	.	.	.	.	0.820988301434	0.81929	.	.	.	.	.	.	.	.	.	.	-0.353639	0.04502	T	-0.283175	0.46477	T	.	.	.	0.339066	0.07293	T	.	.	.	.	.	.	.	.	-3.503	0.16473	T	.	.	0.394	0.59211	A	.	.	1.015454	0.13947	10.51	0.80643972165332301	0.13300	0.01335	0.04597	N	AEFBI	.	.	.	.	.	.	.	.	.	0.020301903492462	0.13245	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.092715	0.02821	0	0.046875	0.06002	2.21	2.21	0.27042	0.614000	0.24009	0.472000	0.18721	0.661000	0.55757	0.001000	0.13787	0.000000	0.08366	0.244000	0.23106	0.0:0.0:1.0:0.0	8.015	0.29535	695	0.58372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2191.98	46	chr7	30654806	.	G	C	2191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.960e-01;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=0.158;SOR=0.718	GT:AD:DP:GQ:PL	0/1:107,91:198:99:2206,0,2712	20	0	1	0
chr7	31578089	31578089	G	C	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon7:c.G825C:p.E275D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	P	0.691	P	.	.	0.998	N	1.59	L	2.34	T	-1.073	T	0.066	T	0.089	2.931	15.77	2.34	0.207	0.512	6.530	0.040	0.0101198041539	.	.	8.316e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs747609326	6.159e-06	6.157e-06	6.808e-06	5.502e-06	6.713e-05	2.9e-06	2.1e-06	1.78e-05	8.93e-06	0	6.713e-05	0	0	0	0	3.598e-06	3.314e-05	0	3.944e-05	3.94e-05	2.569e-05	5.383e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.072	0.35726	T	0.049	0.49663	D	0.925	0.51395	P	0.691	0.53831	P	.	.	.	.	1	0.22446	N	.	.	.	2.34	0.20255	T	-1.14	0.29323	N	0.092	0.11483	-1.0728	0.08808	T	0.066	0.27087	T	8	0.08823919	0.15174	T	0.01012	0.26280	T	0.040	0.10527	0.176	0.08257	0.173771789658	0.16945	0.0712978095544704	0.07066	0.111376564188	0.12561	0.241398349404	0.02917	T	0.014874	0.12581	T	-0.434943	0.01385	T	-0.686695	0.06582	T	0.216198787093163	0.21273	T	0.513749	0.16498	T	0.049349904	0.08750	0.061720762	0.11965	0.049349904	0.08749	0.061720762	0.11964	-3.62	0.18147	T	.	.	0.116	0.25946	B	.;.;.;.	.;.;.;.	1.384432	0.17965	13.47	0.99399062860379916	0.62702	0.30036	0.23978	N	AEFBI	0.148313	0.27217	N	-0.323988287876862	0.28239	1.555966	-0.492701328688242	0.22353	1.213747	4.20519087382695E-5	0.03989	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.49	2.34	0.28071	0.369000	0.20149	1.212000	0.24914	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.3898:0.0:0.6102:0.0	6.530	0.21520	845	0.36510	.;.;.;.	.	.	.	.	.	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	2134.98	34	chr7	31578089	.	G	C	2134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-02;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-5.130e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:102,81:183:99:2149,0,2703	20	0	1	0
chr7	40459138	40459138	A	G	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon10:c.A782G:p.Y261C	Glutaric aciduria III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.000	D	1.000	D	2.085	M	0.61	T	0.469	D	0.712	D	0.699	3.228	16.82	4.14	2.169	3.502	8.139	0.257	0.0631456692144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887613782	1.37e-06	1.368e-06	2.727e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	3.786e-05	0	0	0	0	6.571e-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	0.0	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.947	0.68407	D	0.000057	0.53742	D	0.129990	0.534084	0.31466	N	3.405	0.91733	M	0.61	0.53516	T	-6.12	0.90060	D	0.783	0.77978	0.469	0.90112	D	0.712	0.90119	D	10	0.9008051	0.89441	D	0.063146	0.68875	D	0.557	0.81774	0.758	0.88730	0.331365685468	0.32749	0.7446136044655388	0.74407	.	.	.	.	.	0.245068	0.61430	T	0.116469	0.66016	D	-0.0704769	0.65591	T	0.979018330574036	0.72615	D	0.911709	0.70896	D	0.8838923	0.89990	0.7951325	0.87965	0.8838923	0.89992	0.7951325	0.87966	-10.097	0.76525	D	.	.	0.550	0.78822	A	.;.;.	.;.;.	4.604969	0.72972	25.9	0.99827761345760402	0.91026	0.80147	0.39863	D	AEBI	0.664739	0.63380	D	0.620345800931648	0.74464	6.13694	0.583717138879838	0.73772	6.025587	0.996310083825769	0.34662	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.37	4.14	0.47821	2.929000	0.48610	6.590000	0.56023	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8212:0.0:0.0:0.1788	8.139	0.30234	812	0.42537	.;.;.	.	.	.	.	.	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	1115.98	35	chr7	40459138	.	A	G	1115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.623;DP=765;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.643;SOR=0.538	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1130,0,765	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	0/1:85,31:124:23:23,0,1472	12	0	7	2
chr7	47792769	47792769	A	T	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon56:c.T8384A:p.L2795Q,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	1.0	D	0.982	D	0.236	N	0.996	N	0.695	N	1.95	T	-1.059	T	0.068	T	0.467	2.635	14.77	4.95	2.086	3.589	10.928	0.221	0.00491336055821	.	0.00119808	0.0002	0	0	0	0	0	0	0.0016	0.000207	32	154602	rs556945798	9.101e-05	9.098e-05	5.174e-05	0.0001	0.0014	7.825e-05	7.307e-05	0.0012	0.0011	0	0	0	0	0	0	8.994e-07	0.0002	0.0014	7.88e-05	7.874e-05	7.71e-05	8.057e-05	0.0023	4.494e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0.0005	0.0023	0.106	0.29688	T	0.003	0.76473	D	1.0	0.90584	D	0.982	0.75477	D	0.236081	0.15815	N	0.458568	1	0.08975	N	0.975	0.24501	L	1.95	0.22474	T	-1.92	0.44657	N	0.575	0.59732	-1.0590	0.12007	T	0.068	0.27947	T	10	0.01765877	0.00378	T	0.004913	0.12349	T	0.221	0.51721	0.435	0.48664	0.701366418672	0.69878	0.32588275842523595	0.32501	0.500520315838	0.48470	0.35369426012	0.18464	T	0.055649	0.30067	T	-0.418823	0.01740	T	-0.404466	0.32865	T	0.179062444001799	0.19176	T	0.561144	0.19645	T	0.25338984	0.48360	0.18504822	0.41594	0.25338984	0.48360	0.18504822	0.41594	-3.412	0.15218	T	.	.	0.396	0.59325	A	.	.	3.771013	0.54161	23.5	0.98663675797424855	0.44372	0.52271	0.29092	D	ALL	0.117854	0.23070	N	0.027089237914585	0.43090	2.608767	-0.0418116948285734	0.37846	2.221563	0.99999999999574	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.615948	0.41167	0	0.655445	0.63398	0	.	.	4.95	4.95	0.64894	3.590000	0.53726	7.735000	0.67855	0.756000	0.94297	0.134000	0.23411	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	10.928	0.46411	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	831.98	34	chr7	47792769	.	A	T	831.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.339;DP=740;ExcessHet=0.0000;FS=2.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=0.697;SOR=1.218	GT:AD:DP:GQ:PL	0/1:27,29:56:99:846,0,686	20	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	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|1:52,67,0:119:99:0|1:47829595_G_C:823,0,337,958,522,1480:47829595	0	0	17	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	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	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,60:203:99:.:.:655,0,1778	5	0	11	5
chr7	77274516	77274518	AAC	-	exonic	CCDC146	.	nonframeshift deletion	CCDC146:NM_020879:exon11:c.1304_1306del:p.Q437del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.344e-05	0	0	0	0	2.583e-05	0	0	3.84e-05	1	26028	rs773176681	3.449e-06	3.42e-06	2.745e-06	4.16e-06	1.186e-05	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.712e-06	1.672e-05	1.186e-05	6.58e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2548.07	35	chr7	77274515	.	GAAC	G	2548.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.642;DP=805;ExcessHet=0.1072;FS=4.815;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=0.229;SOR=1.071	GT:AD:DP:GQ:PL	0/1:21,22:43:99:853,0,816	19	0	2	0
chr7	77293069	77293069	G	C	exonic	CCDC146	.	nonsynonymous SNV	CCDC146:NM_020879:exon18:c.G2533C:p.E845Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.783	P	0.36	B	0.000	N	1.000	D	1.845	L	0.97	T	-0.949	T	0.123	T	0.125	2.659	14.85	3.72	1.351	4.352	16.521	0.093	0.0118689613171	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.312e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.202	0.27414	T	0.783	0.44368	P	0.36	0.43183	B	0.000002	0.62929	N	0.098890	0.999915	0.51042	D	1.19	0.30124	L	0.97	0.42502	T	-2.07	0.47344	N	0.15	0.15328	-0.9493	0.41092	T	0.123	0.42568	T	10	0.14718333	0.27892	T	0.011869	0.29919	T	0.093	0.26882	0.202	0.11659	0.313210971179	0.30940	0.5065618290665941	0.50578	0.199448872347	0.22341	0.37640196085	0.21745	T	0.006018	0.05459	T	-0.218612	0.18183	T	-0.551798	0.17153	T	0.796661913394928	0.46128	D	0.639136	0.25234	T	0.3131353	0.54055	0.26858756	0.52730	0.3131353	0.54055	0.26858756	0.52729	-7.405	0.56940	T	.	.	0.105	0.19357	B	.	.	4.014475	0.59245	24.1	0.99261574389805107	0.57222	0.86467	0.45753	D	AEFGHCI	0.523852	0.54728	D	0.158557028722422	0.49217	3.124647	0.23325272761807	0.51701	3.350474	0.94373774884694	0.27583	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.66	3.72	0.41857	4.840000	0.62513	4.725000	0.44525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.283:0.717:0.0	16.521	0.84164	471	0.78036	.	.	.	.	.	.	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	2517.11	33	chr7	77293069	.	G	C	2517.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=900;ExcessHet=0.1072;FS=2.848;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=-4.420e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1526,0,1793	19	0	2	0
chr7	81705502	81705502	T	C	exonic	HGF	.	nonsynonymous SNV	HGF:NM_000601:exon17:c.A1898G:p.H633R	Deafness, autosomal recessive 39, Autosomal recessive	.	2	1515	5	0	0	5	0.00164745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.378	B	0.054	B	0.002	N	1.000	D	-0.19	N	-2.34	D	-0.536	T	0.301	T	0.489	0.691	7.692	4.95	1.979	4.439	10.993	0.372	0.058995088947	.	.	4.14e-05	0	0	0.0001	0	1.504e-05	0	0.0002	3.23e-05	5	154602	rs746110664	2.601e-05	2.599e-05	1.362e-05	3.853e-05	0.0002	1.934e-05	1.693e-05	0.0001	9.452e-05	0	0	0	2.521e-05	0	0.0002	1.44e-05	6.63e-05	0.0002	1.317e-05	1.314e-05	0	2.697e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.65	0.04848	T	0.529	0.10138	T	0.378	0.34287	B	0.054	0.25828	B	0.001711	0.38216	N	0.311853	0.715125	0.33559	D	-0.32	0.03561	N	-2.34	0.87989	D	-0.77	0.21429	N	0.487	0.52119	-0.5365	0.67296	T	0.301	0.67232	T	10	0.23366907	0.40389	T	0.058995	0.67511	D	0.372	0.69102	0.688	0.82558	0.865476697762	0.86417	0.6533676114578643	0.65272	0.683016980311	0.60141	0.552496254444	0.46209	T	0.497176	0.81916	T	-0.155561	0.27444	T	-0.186929	0.55877	T	0.0921397195614843	0.11469	T	0.867113	0.56785	D	0.315374	0.54247	0.21538672	0.46126	0.315374	0.54247	0.21538672	0.46125	-4.102	0.25320	T	0.08659186984289179	0.05000	0.077	0.11701	B	.;.;.	.;.;.	2.387516	0.30655	18.50	0.90636703688598363	0.19889	0.72577	0.35519	D	AEFDBCI	0.729631	0.67728	D	-0.216813847188683	0.32443	1.829755	-0.0176336489177468	0.38919	2.299864	0.999999980183518	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.95	4.95	0.64894	3.183000	0.50619	4.203000	0.42481	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1562:0.8438	10.993	0.46774	821	0.40814	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	33	chr7	81705502	.	T	C	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.068e+00;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-3.980e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1216,0,1112	20	0	1	0
chr7	81971858	81971858	G	A	exonic	CACNA2D1	.	nonsynonymous SNV	CACNA2D1:NM_000722:exon26:c.C2060T:p.A687V	.	.	518	1003	1	0	0	1	0.000498256	.	.	1007621	Brugada_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.0	B	0.001	B	0.697	N	1.000	N	-0.755	N	3.27	T	-1.058	T	0.034	T	0.168	1.089	9.444	4.22	2.411	1.901	9.865	0.043	0.0086315341336	.	.	7.456e-05	0	0	0.0001	0	4.518e-05	0	0.0003	5.82e-05	9	154602	rs761738920	3.115e-05	3.353e-05	2.069e-05	4.169e-05	0.0003	2.375e-05	2.12e-05	0.0002	0.0002	6.046e-05	0	0	5.071e-05	0	0	1.367e-05	1.676e-05	0.0003	1.319e-05	1.314e-05	0	2.703e-05	2.419e-05	2.19e-06	8.2e-07	.	.	2.419e-05	0	0	0	0	0	0	1.476e-05	0	0	0.313	0.13879	T	0.321	0.19073	T	0.0	0.02946	B	0.001	0.04355	B	0.697347	0.06182	N	1.132290	1	0.08975	N	-0.205	0.04094	N	3.27	0.06681	T	-0.22	0.10480	N	0.087	0.06454	-1.0582	0.12209	T	0.034	0.14683	T	10	0.06627524	0.09065	T	0.008632	0.22804	T	0.113	0.31778	0.485	0.56780	0.102598925029	0.09809	0.35942288403855305	0.35856	0.453800598545	0.45067	0.310485720634	0.11980	T	0.058327	0.30813	T	-0.47995	0.00740	T	-0.647756	0.09112	T	0.0441522922811622	0.04448	T	0.807119	0.45664	T	0.035514783	0.04193	0.06369398	0.12654	0.035514783	0.04193	0.06369398	0.12653	-1.619	0.02226	T	.	.	0.093	0.14015	B	.;.	.;.	2.163679	0.27570	17.51	0.98327101619961532	0.40300	0.20795	0.21171	N	AEFBI	0.110854	0.21967	N	-0.243875445997319	0.31348	1.756863	-0.161533313883186	0.32967	1.88089	0.980953929873883	0.30199	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.22	4.22	0.49153	2.443000	0.44540	6.537000	0.55873	0.618000	0.50648	0.405000	0.26210	1.000000	0.68203	0.057000	0.15750	0.174:0.0:0.826:0.0	9.865	0.40309	914	0.21048	.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	345.98	35	chr7	81971858	.	G	A	345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.522;DP=688;ExcessHet=0.0000;FS=1.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=1.20;SOR=1.022	GT:AD:DP:GQ:PL	0/1:23,16:39:99:360,0,536	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	0/2:95,4,22:121:99:.:.:152,355,3003,0,2565,2561	8	0	4	8
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	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	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:189,32:226:99:.:.:132,0,6734	9	0	12	0
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	0/1:189,41:230:99:.:.:208,0,6718	2	0	19	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.254	B	0.323	B	0.000	D	1.000	D	2.2	M	.	.	-0.539	T	0.336	T	0.848	3.986	20.4	4.74	2.629	4.848	17.024	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE 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	0.1905	359.48	99	chr7	93996297	.	C	G	359.48	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-3.848e+00;DP=2300;ExcessHet=3.5521;FS=355.066;InbreedingCoeff=-0.2345;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=0.909;SOR=13.026	GT:AD:DP:GQ:PL	0/1:76,45:121:99:131,0,1042	13	0	8	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.419	14.05	3.49	1.479	5.741	10.139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	315.33	105	chr7	97990042	.	A	C	315.33	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.512e+00;DP=1848;ExcessHet=0.1072;FS=219.780;InbreedingCoeff=-0.0755;MLEAC=2;MLEAF=0.050;MQ=59.92;MQRankSum=0.00;QD=1.08;ReadPosRankSum=2.36;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,22:147:99:0|1:97990033_G_A:103,0,3786:97990033	18	0	2	1
chr7	98851507	98851507	T	G	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.A614C:p.D205A	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.206	B	0.085	B	0.037	N	1.000	N	1.7	L	-0.25	T	-0.988	T	0.093	T	0.365	2.320	13.72	1.17	0.285	1.002	0.921	0.087	.	0.0011	0.0061901	0.0078	0.0013	0.0484	0.0006	0.0165	0.0030	0.0089	0.0033	0.0072703	1124	154602	rs145989307	0.0029	0.0029	0.0031	0.0027	0.0475	0.0028	0.0028	0.0458	0.0452	0.0005	0.0475	0.0008	0.0010	0.0178	0.0010	0.0005	0.0031	0.0035	0.0045	0.0044	0.0041	0.0048	0.0229	0.0042	0.0041	0.0209	0.0202	0.0013	0.0022	0.0229	0.0014	0.0008	0.0162	0	0.0010	0.0062	0.0025	0.031	0.45039	D	0.129	0.40747	T	0.103	0.29860	B	0.085	0.29395	B	0.037121	0.24440	N	0.394655	1	0.08975	N	2.075	0.57047	M	-0.25	0.67011	T	-1.03	0.27052	N	0.463	0.51226	-0.9879	0.33126	T	0.093	0.35390	T	10	0.0062393546	0.00141	T	.	.	.	0.087	0.25287	.	.	0.633545781819	0.63054	0.441437285070301	0.44060	0.216282985703	0.24154	0.393719613552	0.24193	T	0.060934	0.31519	T	-0.403399	0.02199	T	-0.316461	0.42960	T	0.00268141777118579	0.00028	T	0.562144	0.19728	T	0.034766253	0.03964	0.042509936	0.05079	0.034766253	0.03964	0.042509936	0.05079	-10.153	0.76438	D	.	.	0.120	0.32469	B	.;.;.;.	.;.;.;.	2.600596	0.33751	19.43	0.979059833147637	0.36780	0.03457	0.08605	N	AEFDBI	0.072850	0.14552	N	-0.635733177265275	0.17878	0.923736	-0.657466063600771	0.18029	0.9612872	0.00670121264416257	0.11287	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	1.17	0.19998	1.239000	0.32322	1.009000	0.23318	-0.179000	0.10443	0.002000	0.15269	0.013000	0.20296	0.960000	0.51673	0.1547:0.1795:0.16:0.5058	0.921	0.01233	510	0.75209	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1218.98	40	chr7	98851507	.	T	G	1218.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.750e-01;DP=813;ExcessHet=0.0000;FS=0.723;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.398e+00;SOR=0.609	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1233,0,1623	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	0/1:81,51:134:99:.:.:1295,0,2388	0	0	21	0
chr7	100436019	100436019	G	A	exonic	PPP1R35	.	stopgain	PPP1R35:NM_001346938:exon2:c.C280T:p.Q94X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	0.124	N	1.000	A	.	.	.	.	.	.	.	.	.	3.898	19.82	2.69	0.515	0.652	6.154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.152e-06	2.052e-06	0	4.353e-06	9.223e-07	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.223e-07	3.435e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123512	0.02747	N	1.847450	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23905	0.77571	D	0.105603	0.77279	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.197810	0.87191	29.2	0.99233781840303126	0.56310	0.10211	0.15780	N	AEFDGBHCI	0.032935	0.03815	N	0.0969464975234919	0.46319	2.874192	-0.209374271304585	0.31197	1.763393	0.999999999985705	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.51	2.69	0.30923	-0.186000	0.09666	0.081000	0.14390	-0.216000	0.08207	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1026:0.189:0.7084:0.0	6.154	0.19547	473	0.77910	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	620.98	34	chr7	100436019	.	G	A	620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.349e+00;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=-9.960e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:30,28:58:99:635,0,803	20	0	1	0
chr7	100686347	100686347	A	G	exonic	GIGYF1	.	nonsynonymous SNV	GIGYF1:NM_001375759:exon11:c.T781C:p.C261R	.	.	.	.	.	.	.	.	.	.	.	3254791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.002	B	0.002	B	0.000	D	1.000	D	-0.975	N	-1.54	D	-0.897	T	0.159	T	0.227	2.169	13.21	3.78	2.076	2.337	8.098	0.253	0.0453357966243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs920549298	2.747e-06	2.737e-06	2.733e-06	2.76e-06	2.705e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.705e-06	1.663e-05	0	7.165e-06	6.864e-06	1.384e-05	0	1.55e-05	0	0	.	.	0	0	0	0	0	0	0	1.55e-05	0	0	0.427	0.09629	T	0.575	0.08654	T	0.002	0.09854	B	0.002	0.06944	B	0.000357	0.45440	D	0.100331	0.999966	0.52935	D	.	.	.	-1.54	0.81640	D	0.71	0.02130	N	0.659	0.66873	-0.8972	0.48273	T	0.159	0.49195	T	10	0.115104884	0.21676	T	0.045336	0.61931	D	0.253	0.56294	0.371	0.38176	0.0934897674506	0.08844	0.06266416966597502	0.06206	0.33676110885	0.35672	0.556362748146	0.46754	T	0.024337	0.18409	T	-0.0547235	0.43726	T	-0.316383	0.42970	T	0.182741704795398	0.19407	T	0.717928	0.33070	T	0.38251677	0.59498	0.2224231	0.47086	0.38251677	0.59499	0.2224231	0.47085	-1.053	0.01060	T	.	.	0.159	0.35183	B	.;.	.;.	2.942063	0.39120	20.9	0.968650616307144	0.31396	0.84654	0.43739	D	AEFDBCI	0.124312	0.24030	N	-0.573521925456215	0.19752	1.036215	-0.3495622874745	0.26522	1.465513	0.942625605242243	0.27530	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	3.78	0.42629	2.356000	0.43770	6.571000	0.55968	0.735000	0.85950	0.997000	0.40164	1.000000	0.68203	0.862000	0.40904	0.7764:0.2236:0.0:0.0	8.098	0.29999	712	0.56465	.;.	.	.	.	.	.	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	665.98	38	chr7	100686347	.	A	G	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.830e-01;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.153e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:29,30:59:99:680,0,678	20	0	1	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	1|2:0,62,52:114:99:1|0:100773849_CCAT_C:4760,1451,1128,1757,0,1462:100773849	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	1|2:0,52,62:114:99:0|1:100773849_CCAT_C:4763,1756,1430,1454,0,1131:100773849	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|1:390,156,66:612:99:0|1:100952942_T_G:5376,0,15906,3779,13605,19956:100952942	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:612,111,0:723:99:0|1:100953014_G_A:2819,0,25364,4661,25698,30359:100953014	6	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F,	.	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	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	0.1667	8258.55	795	chr7	100953071	.	C	T	8258.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=3.74;DP=15016;ExcessHet=2.5830;FS=6.358;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=57.50;MQRankSum=-3.156e+00;QD=1.60;ReadPosRankSum=-2.712e+00;SOR=1.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:673,90:763:99:0|1:100953014_G_A:1753,0,27988:100953014	14	0	7	0
chr7	100953083	100953083	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1304A:p.T435N,	.	.	427	1053	42	0	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.138e-05	0.0029	1.486e-05	8.081e-06	1.475e-05	6.11e-06	4.46e-06	6.09e-06	4.41e-06	0	0	0	0	2.853e-05	0	1.294e-05	0	1.475e-05	2.978e-05	0.0051	5.866e-05	0	0.0004	4.94e-06	1.85e-06	.	.	6.829e-05	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.28	0.21678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.05432555	0.05765	T	.	.	.	.	.	.	.	.	.	0.037030229045629026	0.03650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-4.954	0.36336	T	.	.	0.167	0.36752	B	.;.	.;.	0.096276	0.04987	1.547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.748000	0.04924	-10.414000	0.00704	-0.257000	0.07002	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	0.1053	2908.01	762	chr7	100953083	.	C	A	2908.01	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.50;DP=14857;ExcessHet=0.6776;FS=9.262;InbreedingCoeff=-0.1489;MLEAC=4;MLEAF=0.105;MQ=57.48;MQRankSum=-3.473e+00;QD=1.05;ReadPosRankSum=-3.709e+00;SOR=2.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:687,80:767:99:0|1:100953014_G_A:1291,0,28606:100953014	15	0	4	2
chr7	100953109	100953109	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1330T:p.P444S,	.	.	467	1032	22	1	0	24	0.0114943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.804e-06	0.0001	7.99e-06	0	1.517e-05	1.01e-06	2.8e-07	6.3e-07	2.4e-07	0	0	0	0	0	0	3.77e-06	0	1.517e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.24	0.24406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.03956	.	.	.	.	.	.	.	0.07014501	0.10163	T	.	.	.	.	.	.	.	.	.	0.04546856812336578	0.04490	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427957	0.11563	T	.	.	.	.	.	.	.	.	-5.055	0.37431	T	.	.	0.134	0.29116	B	.;.	.;.	0.519423	0.08885	5.662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.170000	0.03227	-14.841000	0.00384	-0.257000	0.07002	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	0.02381	106.98	709	chr7	100953109	.	C	T	106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.18;DP=13622;ExcessHet=0.0000;FS=8.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.78;MQRankSum=-7.354e+00;QD=0.14;ReadPosRankSum=-1.384e+00;SOR=2.154	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:699,53:752:99:0|1:100953014_G_A:121,0,29191:100953014	20	0	1	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	0/2:436,56,116:608:99:.:.:3558,2519,20658,0,15956,17958	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	0/1:435,113,49:603:99:3435,0,17925,2687,16208,20805	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	0/1:384,192,0:649:99:.:.:6906,0,15546,8062,16124,24186	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|1:1104,87,85:1276:84:0|1:100953486_C_A:330,0,46092,84,42782,46178:100953486	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|1:1030,167,86:1283:99:0|1:100953471_A_C:3812,0,42465,3361,39457,47067:100953471	7	0	10	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	0/1:1061,179,120:1360:99:.:.:4322,0,44002,2477,39504,46667	3	0	15	0
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|1:604,64,0:668:99:0|1:100954953_T_A:869,0,25169,2687,25362,28049:100954953	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|2:328,7,27:362:99:0|1:100955170_G_T:146,840,14591,0,13479,13691:100955170	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|1:433,124,0:557:99:1|0:100955535_C_G:3903,0,17808,5207,18182,23388:100955535	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|1:435,124,32:591:99:1|0:100955535_C_G:3897,0,17892,3863,16922,22032:100955535	3	0	14	1
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|1:841,87,0:928:99:0|1:100955952_C_G:1122,0,35052,3653,35313,38967:100955952	4	0	15	0
chr7	100956674	100956674	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4895T:p.S1632F,	.	.	828	686	7	1	0	9	0.00651702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900396039	0.0051	0.0029	0.0051	0.0051	0.0093	0.0049	0.0048	0.0055	0.0051	0.0022	0.0021	0.0194	0	0.0021	0.0093	0.0055	0.0054	0.0055	0.0026	0.0042	0.0030	0.0022	0.0046	0.0024	0.0023	0.0034	0.0032	0.0008	0	0.0018	0.0123	0	0.0004	0	0.0037	0.0038	0.0046	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.09066	.	.	.	.	.	.	.	0.011351138	0.00249	T	.	.	.	.	.	.	.	.	.	0.024629798100384948	0.02413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39686	0.10010	T	.	.	.	.	.	.	.	.	-7.929	0.63552	D	.	.	0.331	0.55299	B	.;.	.;.	1.745033	0.22204	15.52	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460000	0.21635	-5.893000	0.01561	0.447000	0.21209	0.003000	0.16062	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	0.04762	5412.11	585	chr7	100956674	.	C	T	5412.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.67;DP=13223;ExcessHet=0.1072;FS=2.276;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.90;MQRankSum=5.95;QD=3.68;ReadPosRankSum=0.196;SOR=0.503	GT:AD:DP:GQ:PL	0/1:590,159:749:99:2985,0,21477	19	0	2	0
chr7	100958283	100958283	G	0	exonic	MUC3A	.	.	.	.	.	1044	288	14	0	176	190	0.0237288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	678.18	690	chr7	100958283	.	G	T,*	678.18	.	AC=1,1;AF=0.250,0.250;AN=4;BaseQRankSum=-2.300e-02;DP=12150;ExcessHet=1.7609;FS=94.798;InbreedingCoeff=0.2063;MLEAC=4,4;MLEAF=1.00,1.00;MQ=51.38;MQRankSum=1.44;QD=3.75;ReadPosRankSum=1.21;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,28,0:168:99:0|1:100958283_G_T:673,0,3050,1086,3149,4236:100958283	0	0	1	19
chr7	100958296	100958326	CACAGGTGGGGGACCACCGAGACCACATCCT	0	exonic	MUC3A	.	.	.	.	.	1113	167	100	11	131	253	0.267544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1430.05	690	chr7	100958296	.	CACAGGTGGGGGACCACCGAGACCACATCCT	C,*	1430.05	.	AC=1,1;AF=0.250,0.250;AN=4;BaseQRankSum=3.59;DP=12197;ExcessHet=1.7609;FS=29.268;InbreedingCoeff=0.2063;MLEAC=4,4;MLEAF=1.00,1.00;MQ=53.84;MQRankSum=-4.130e+00;QD=5.88;ReadPosRankSum=-4.868e+00;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,56,0:230:99:0|1:100958283_G_T:1425,0,5179,1944,5351,7296:100958283	0	0	1	19
chr7	100958300	100958300	-	TACTACCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6521_6522insTACTACCA:p.R2174Sfs*123,	.	.	1224	42	0	12	244	268	0.222222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0005	0.0025	0.0022	0.0051	0.0019	0.0018	0.0017	0.0015	0.0009	0.0023	0.0021	0.0044	0.0077	0.0051	0.0021	0.0016	0.0015	0.0031	0.0097	0.0041	0.0019	0.0077	0.0018	0.0014	0.0022	0.0016	0.0009	0	0.0077	0.0093	0	0	0	0.0044	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:174,0,0,56:230:99:0|1:100958283_G_T:1425,1944,7296,1944,7296,7296,0,5351,5351,5179:100958283	0	0	0	18
chr7	100958300	100958300	G	0	exonic	MUC3A	.	.	.	.	.	218	0	0	4	4	12	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7367.84	690	chr7	100958300	.	G	GTACTACCA,GTACTCCCA,*	7367.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;BaseQRankSum=3.93;DP=11684;ExcessHet=0.9691;FS=59.982;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.77;MQRankSum=-1.937e+00;QD=15.48;ReadPosRankSum=-1.200e+00;SOR=1.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:174,0,0,56:230:99:0|1:100958283_G_T:1425,1944,7296,1944,7296,7296,0,5351,5351,5179:100958283	0	0	0	18
chr7	100958301	100958301	G	0	exonic	MUC3A	.	.	.	.	.	1236	33	0	10	243	263	0.232558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7448.84	690	chr7	100958301	.	G	GCTTCATTTCTTTGATAACCACCTC,GCTTCACTTCTTTGATAACCACCTC,*	7448.84	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11688;ExcessHet=0.9691;FS=59.903;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=46.59;MQRankSum=-1.621e+00;QD=15.49;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:174,0,0,56:230:99:0|1:100958283_G_T:1425,1944,7296,1944,7296,7296,0,5351,5351,5179:100958283	0	0	0	18
chr7	100958304	100958304	G	0	exonic	MUC3A	.	.	.	.	.	1234	37	0	13	238	264	0.26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	11635.88	690	chr7	100958304	.	G	A,*	11635.88	.	AC=2,2;AF=0.333,0.333;AN=6;DP=11706;ExcessHet=0.9691;FS=19.376;InbreedingCoeff=0.2364;MLEAC=7,7;MLEAF=1.00,1.00;MQ=49.65;MQRankSum=-3.637e+00;QD=21.91;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:174,0,56:230:99:0|1:100958283_G_T:1425,1944,7296,0,5351,5179:100958283	0	1	0	18
chr7	100958305	100958305	-	ACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.6526_6527insACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA:p.G2176Dfs*68,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0200	0.0006	0.0165	0.0233	0.0342	0.0175	0.0165	0.0214	0.0175	0	0.0048	0.0133	0.0028	0.0486	0.0312	0.0187	0.0291	0.0342	0.0021	0.0022	0	0.0042	0.0062	0.0010	0.0007	0.0011	0.0006	0	0	0.0062	0	0	0	0	0.0028	0	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:174,0,0,56:230:99:0|1:100958283_G_T:1425,1944,7296,1944,7296,7296,0,5351,5351,5179:100958283	0	0	0	18
chr7	100958305	100958305	G	0	exonic	MUC3A	.	.	.	.	.	1235	37	1	5	244	255	0.129412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10738.97	690	chr7	100958305	.	G	GACCCCCTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,GACCCTGTCACACAGTACTCCCAGCTTCACTTCTTCGATGACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCA,*	10738.97	.	AC=1,1,2;AF=0.167,0.167,0.333;AN=6;DP=11701;ExcessHet=0.9691;FS=26.764;InbreedingCoeff=0.2364;MLEAC=3,3,7;MLEAF=0.500,0.500,1.00;MQ=49.69;MQRankSum=-5.520e+00;QD=30.42;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:174,0,0,56:230:99:0|1:100958283_G_T:1425,1944,7296,1944,7296,7296,0,5351,5351,5179:100958283	0	0	0	18
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|1:395,143,125:663:99:0|1:100960582_T_A:6206,0,15843,294,12492,16081:100960582	0	0	15	0
chr7	100996153	100996153	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G5590C:p.V1864L,	.	.	788	732	2	0	0	2	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.980	T	0.013	T	0.14	-1.369	0.026	-0.944	-1.647	-1.921	.	0.064	0.00770671566112	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1305733286	0.0014	0.0076	0.0015	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0002	0.0006	0.0003	0	0.0004	0.0013	0.0017	0.0008	0.0007	0.0017	0.0069	0.0018	0.0014	0.0026	0.0015	0.0014	0.0018	0.0017	0.0004	0.0038	0.0025	0.0013	0	0.0023	0	0.0021	0.0019	0.0026	0.668	0.04588	T	0.177	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.43	0.14390	N	0.077	0.05162	-0.9800	0.35002	T	0.013	0.04890	T	6	0.016234547	0.00342	T	0.007707	0.20457	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.00941262599498134	0.00904	.	.	0.534649372101	0.43689	T	0.004547	0.03958	T	-0.350214	0.04714	T	-0.740834	0.03856	T	0.00857765827161554	0.00105	T	0.191481	0.02052	T	0.073849864	0.16532	0.066425376	0.13606	0.073849864	0.16532	0.066425376	0.13605	-0.292	0.00641	T	.	.	0.186	0.40229	B	.;.	.;.	-0.959578	0.00830	0.028	0.21294105380996659	0.00805	0.00056	0.00418	N	AEFI	0.018039	0.00516	N	-1.50142002448653	0.01841	0.08071402	-1.6866193745322	0.01197	0.05391158	9.20458990407013E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.472	-0.944	0.09862	-0.480000	0.06639	.	.	-2.019000	0.00436	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	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	1	0	0	0	0.07143	128.78	34	chr7	100996153	.	G	C	128.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.377e+00;DP=731;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0794;MLEAC=3;MLEAF=0.071;MQ=36.10;MQRankSum=0.493;QD=1.03;ReadPosRankSum=-2.360e-01;SOR=0.055	GT:AD:DP:GQ:PL	0/1:16,2:18:25:25,0,619	18	0	3	0
chr7	102321478	102321478	C	G	exonic	SH2B2	.	nonsynonymous SNV	SH2B2:NM_001359228:exon9:c.C1747G:p.P583A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.003	B	0.004	B	0.130	N	0.999	N	0.895	L	1.43	T	-1.066	T	0.076	T	0.256	-0.622	1.240	-0.025	-0.184	0.114	5.424	0.058	0.781928642439	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868990700	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.28300	T	.	.	.	.	.	.	0.129650	0.02797	N	1.779960	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.03392	-1.0663	0.10246	T	0.076	0.30492	T	9	0.121950924	0.23126	T	0.781929	0.98283	D	0.058	0.16647	.	.	0.436671004673	0.43285	0.41611927952261224	0.41527	0.184578645783	0.20760	0.806786894798	0.82999	D	.	.	.	-0.162324	0.26402	T	-0.470944	0.25416	T	0.0318929441273212	0.02289	T	0.373463	0.08871	T	.	.	.	.	.	.	.	.	-3.511	0.16586	T	.	.	0.053	0.00254	B	.	.	0.320317	0.06949	3.496	0.43323771206421807	0.03254	0.06862	0.12887	N	AEFDBHCIJ	0.052479	0.09371	N	-1.56369438642633	0.01456	0.06354392	-1.58126930048254	0.01770	0.08053544	0.999999762145223	0.74766	0.652421	0.48094	0	0.577304	0.33150	0	0.64067	0.45733	0	0.662026	0.63922	0	.	.	4.12	-0.0255	0.13261	0.064000	0.14310	-0.066000	0.12360	-0.315000	0.05944	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1171:0.6238:0.1129:0.1461	5.424	0.15714	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	221.05	8	chr7	102321478	.	C	G	221.05	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.319;DP=321;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0290;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=27.63;ReadPosRankSum=0.319;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,6:8:55:0|1:102321477_C_T:235,0,55:102321477	20	0	1	0
chr7	102569917	102569917	T	C	exonic	POLR2J3	.	nonsynonymous SNV	POLR2J3:NM_001097615:exon2:c.A58G:p.I20V,	.	.	476	1032	13	1	0	15	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.001	B	0.000	D	1.000	D	0.8	N	-3.03	D	-0.572	T	0.494	T	0.579	1.099	9.483	1.32	0.387	5.329	6.086	0.099	0.0245854631363	.	0.00119808	0.0023	0	0.0064	0	0	0.0033	0	0	0.0014215	37	26028	rs554279801	0.0039	0.0062	0.0041	0.0038	0.0048	0.0038	0.0038	0.0046	0.0046	0.0005	0.0010	0.0026	0	0.0012	0.0032	0.0048	0.0029	0.0008	0.0031	0.0046	0.0033	0.0029	0.0054	0.0029	0.0028	0.0049	0.0047	0.0008	0.0223	0.0017	0.0032	0	0.0008	0.0034	0.0054	0.0010	0.0010	0.13	0.26740	T	0.349	0.19131	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-3.03	0.92307	D	-0.1	0.11913	N	0.394	0.43514	-0.5716	0.65951	T	0.494	0.80816	T	10	0.008987576	0.00203	T	0.024585	0.47577	T	0.437	0.74164	.	.	0.294561560033	0.29076	0.15163416872376084	0.15085	.	.	0.551104187965	0.46012	T	.	.	.	-0.219297	0.18088	T	-0.0865522	0.64420	T	0.0535416718853383	0.06111	T	0.973503	0.90460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.19919	B	.;.;.;.;.;.	.;.;.;.;.;.	2.494046	0.32184	18.97	0.9432724894991692	0.24657	0.77620	0.38185	D	AEFI	0.347653	0.44205	N	-0.628358044882491	0.18096	0.9367566	-0.565531229898879	0.20395	1.09858	3.81449028029263E-4	0.06781	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	1.32	1.32	0.20897	5.558000	0.67024	5.317000	0.48280	0.305000	0.19019	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:0.0:0.0:1.0	6.086	0.19194	434	0.80536	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	503.98	47	chr7	102569917	.	T	C	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.847;DP=1002;ExcessHet=0.0000;FS=2.361;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.01;MQRankSum=1.01;QD=2.61;ReadPosRankSum=-3.100e-02;SOR=0.470	GT:AD:DP:GQ:PL	0/1:156,37:193:99:518,0,3971	20	0	1	0
chr7	105142299	105142299	C	T	exonic	SRPK2	.	nonsynonymous SNV	SRPK2:NM_001350739:exon10:c.G1219A:p.D407N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.135	B	0.121	B	0.006	N	1.000	D	1.245	L	2.02	T	-0.698	T	0.284	T	0.068	3.227	16.81	5.32	2.647	5.308	19.344	0.101	0.0361452876105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.61437	D	0.293	0.21612	T	0.135	0.27304	B	0.121	0.32300	B	0.006020	0.32339	N	0.338464	0.999979	0.53665	D	1.28	0.32218	L	2.02	0.21119	T	-0.45	0.14782	N	0.3	0.39861	-0.6981	0.60529	T	0.284	0.65567	T	10	0.20722976	0.37012	T	0.036145	0.56805	D	0.101	0.28911	0.416	0.45544	0.344269797579	0.34043	0.029569963919614285	0.02905	0.0521985134838	0.05745	0.357384324074	0.19004	T	0.031542	0.22089	T	-0.250928	0.13984	T	-0.598217	0.12961	T	0.5515556452968	0.34536	D	0.957304	0.83911	D	0.09200636	0.21574	0.08590494	0.19865	0.09200636	0.21574	0.08590494	0.19865	-4.777	0.34369	T	.	.	0.087	0.14247	B	.;.;.	.;.;.	3.161641	0.42843	21.6	0.99771418529019329	0.85918	0.99183	0.92454	D	AEFDBI	0.613620	0.60124	D	0.340222542556061	0.58225	3.993583	0.432299649953005	0.63588	4.595596	0.999999986910675	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	5.357000	0.65823	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	19.344	0.94343	687	0.59234	.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase 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	3124.98	34	chr7	105142299	.	C	T	3124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=930;ExcessHet=0.0000;FS=3.934;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=0.815;SOR=0.475	GT:AD:DP:GQ:PL	0/1:91,120:211:99:3139,0,1732	20	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R,	.	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	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	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,20:201:99:0|1:128479325_T_C:255,0,7474:128479325	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	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	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,20:201:99:0|1:128479325_T_C:255,0,7474:128479325	6	0	9	6
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	1/2:0,14,21:35:99:1463,881,902,582,0,520	5	3	3	0
chr7	138088720	138088720	G	C	exonic	AKR1D1	.	nonsynonymous SNV	AKR1D1:NM_001190906:exon2:c.G213C:p.K71N	Bile acid synthesis defect, congenital, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.973	D	0.000	D	1.000	D	2.51	M	0.7	T	-0.517	T	0.273	T	0.357	2.227	13.40	3.39	1.420	1.990	9.910	0.242	0.0264429355488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.025	0.60972	D	0.994	0.66517	D	0.916	0.65201	D	0.000001	0.84330	D	0.052313	0.999886	0.50402	D	1.915	0.51223	L	0.7	0.51474	T	-4.62	0.79143	D	0.667	0.70702	-0.5171	0.68023	T	0.273	0.64484	T	10	0.77445877	0.77345	D	0.026443	0.49346	D	0.242	0.54781	0.665	0.80300	0.582449840715	0.57917	0.8446041355022419	0.84421	0.587943224786	0.54355	0.552428007126	0.46201	T	0.219754	0.58285	T	-0.0937968	0.37450	T	-0.372509	0.36596	T	0.990602850914001	0.80829	D	0.851615	0.54988	D	0.9208902	0.93334	0.6810947	0.81260	0.9208902	0.93335	0.6810947	0.81261	-10.636	0.80834	D	.	.	0.850	0.79770	P	.;.;.	.;.;.	4.218924	0.63804	24.6	0.99812182196689869	0.89620	0.92299	0.55392	D	AEFBI	0.864750	0.78363	D	0.406608807262468	0.61784	4.384378	0.284563858790152	0.54636	3.628198	0.999176147882071	0.38651	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	3.39	0.37919	1.243000	0.32370	4.129000	0.42019	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1697:0.0:0.8303:0.0	9.910	0.40568	929	0.16858	.;.;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	1385.98	33	chr7	138088720	.	G	C	1385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.400;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-2.037e+00;SOR=0.643	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1400,0,1490	20	0	1	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	1/1:0,63,0,0:63:99:2817,190,0,2817,190,2817,2817,190,2817,2817	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	1/1:0,63,0,0:63:99:2817,190,0,2817,190,2817,2817,190,2817,2817	0	16	2	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F,	.	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.005	N	0.709	D	1.445	L	.	.	-0.373	T	0.256	T	0.46	3.113	16.40	4.38	2.430	2.396	12.634	0.162	0.00688694491776	0.0021	0.000399361	0.0018	0.0006	0.0013	0	0.0014	0.0026	0	0.0010	0.0019405	300	154602	rs143475597	0.0029	0.0029	0.0028	0.0029	0.0054	0.0028	0.0028	0.0039	0.0034	0.0004	0.0009	0.0004	0	0.0012	0.0054	0.0034	0.0028	0.0011	0.0021	0.0021	0.0023	0.0020	0.0035	0.0019	0.0019	0.0032	0.0030	0.0006	0	0.0022	0.0003	0	0.0015	0.0034	0.0035	0.0019	0.0010	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.004720	0.33466	N	0.139105	0.70857	0.33495	D	.	.	.	.	.	.	-5.91	0.88904	D	0.374	0.41557	-0.3731	0.72866	T	0.256	0.62665	T	9	0.01358062	0.00288	T	0.006887	0.18233	T	0.162	0.41843	.	.	0.183819452728	0.17975	0.21092932366345982	0.21008	0.185773801594	0.20887	.	.	.	.	.	.	-0.326534	0.06376	T	-0.241964	0.50606	T	0.0327464138630547	0.02429	T	.	.	.	.	.	.	.	.	.	.	.	-4.499	0.30876	T	.	.	0.623	0.69832	P	.	.	3.954746	0.57957	23.9	0.99783856998318676	0.87043	0.69069	0.34043	D	AEFDBCI	0.298094	0.40750	N	0.4490503240225	0.64149	4.663066	0.393618273009087	0.61171	4.313518	0.99995486208824	0.48110	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	2.406000	0.44210	.	.	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	12.634	0.56035	683	0.59664	.	.	.	.	.	.	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	7739.68	33	chr7	142940391	.	C	T	7739.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.148;DP=1318;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.468;SOR=0.662	GT:AD:DP:GQ:PL	0/1:99,96:195:99:2320,0,2559	18	0	3	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|1:72,21:93:99:0|1:143478290_A_G:321,0,2311:143478290	3	0	18	0
chr7	143960479	143960479	G	C	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.G509C:p.R170T,	.	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.0	B	0.536	N	1.000	N	0.41	N	1.23	T	-1.034	T	0.046	T	0.08	-0.645	1.156	0.236	-0.137	0.982	4.231	0.025	0.00153084040938	0.0002	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs151074585	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	1.105	0.28596	L	.	.	.	.	.	.	.	.	-1.0343	0.19078	T	0.046	0.19680	T	10	0.004550338	0.00094	T	0.001531	0.02394	T	.	.	.	.	.	.	0.14138761019478494	0.14061	.	.	0.215875655413	0.01085	T	0.001913	0.01327	T	-0.638109	0.00085	T	-0.694924	0.06107	T	0.000408677296945825	0.00003	T	.	.	.	0.075677715	0.17066	0.046788536	0.06597	0.075677715	0.17066	0.046788536	0.06597	-4.331	0.28610	T	.	.	0.106	0.19639	B	.;.	.;.	0.155675	0.05473	1.939	0.41681102300012435	0.03023	0.08868	0.14732	N	AEFI	0.044541	0.07179	N	-1.25506687048483	0.04233	0.1906543	-1.24895860386132	0.05146	0.2445262	1.1627017477394E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	0.236	0.14733	0.057000	0.14157	-7.646000	0.01114	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.2724:0.4177:0.2377:0.0722	4.231	0.10054	878	0.29785	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	1	0	0	0	0.02381	4585.98	143	chr7	143960479	.	G	C	4585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=1192;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.28;MQRankSum=-1.050e+01;QD=17.71;ReadPosRankSum=1.92;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,120:259:99:0|1:143960479_G_C:4600,0,5445:143960479	20	0	1	0
chr7	143960480	143960480	A	T	exonic	OR2F1	.	nonsynonymous SNV	OR2F1:NM_012369:exon1:c.A510T:p.R170S,	.	.	421	1094	6	1	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	0.536	N	1.000	N	0.245	N	1.22	T	-0.972	T	0.030	T	0.104	-0.034	3.840	-10.4	-4.457	-3.877	0.452	0.065	0.000883077156626	.	0.000798722	0.0022	0.0003	0.0006	0.0001	0	0.0036	0.0044	0.0006	0.0019857	307	154602	rs61731396	0.0019	0.0019	0.0019	0.0020	0.0062	0.0019	0.0018	0.0046	0.0041	0.0003	0.0011	0.0239	0	9.36e-05	0.0062	0.0017	0.0027	0.0008	0.0019	0.0019	0.0021	0.0016	0.0024	0.0017	0.0016	0.0021	0.0020	0.0002	0.0011	0.0009	0.0248	0.0002	0	0.0136	0.0024	0.0038	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.536154	0.11585	N	0.759794	1	0.08975	N	0.6	0.15550	N	.	.	.	.	.	.	.	.	-0.9720	0.36776	T	0.030	0.13023	T	10	0.0036379397	0.00066	T	8.83E-4	0.00800	T	.	.	0.454	0.51775	.	.	0.1354492096293793	0.13468	.	.	0.20867651701	0.00756	T	0.001247	0.00734	T	-0.639018	0.00084	T	-0.69623	0.06035	T	0.0144220716429688	0.00291	T	.	.	.	0.16432382	0.36632	0.056810606	0.10218	0.16432382	0.36631	0.056810606	0.10218	-3.616	0.18088	T	.	.	0.133	0.28750	B	.;.	.;.	-1.565289	0.00258	0.004	0.66386461164890254	0.08044	0.03702	0.08981	N	AEFI	0.080821	0.16347	N	-2.31939879886636	0.00041	0.001764759	-2.43342448466552	0.00033	0.001447302	0.99358201896185	0.33273	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	-10.4	0.00257	-5.233000	0.00165	-11.237000	0.00622	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.2972:0.1391:0.2308:0.3329	0.452	0.00468	878	0.29785	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	1	0	0	0	0.02381	4585.98	143	chr7	143960480	.	A	T	4585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=1192;ExcessHet=0.0000;FS=3.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.28;MQRankSum=-1.050e+01;QD=17.71;ReadPosRankSum=1.71;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,120:259:99:0|1:143960479_G_C:4600,0,5445:143960479	20	0	1	0
chr7	144004286	144004286	G	C	exonic	OR6B1	.	nonsynonymous SNV	OR6B1:NM_001005281:exon1:c.G290C:p.C97S,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	1.0	D	0.001	U	1.000	D	4.415	H	6.7	T	-1.152	T	0.015	T	0.648	3.624	18.44	5.13	2.666	9.505	16.120	0.412	0.0152042867509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	1.0	0.97372	D	0.001112	0.40219	U	0.000000	0.999875	0.50225	D	4.28	0.98178	H	6.7	0.00500	T	-8.88	0.97901	D	0.88	0.87808	-1.1518	0.00972	T	0.015	0.05897	T	10	0.8979582	0.89153	D	0.015204	0.35793	T	0.412	0.72328	0.707	0.84327	0.866574595688	0.86527	0.47396116342436384	0.47315	0.554415092435	0.52183	0.511605262756	0.40447	T	0.066037	0.32842	T	0.0380864	0.56794	T	-0.183068	0.56237	T	0.999825298786163	0.99200	D	.	.	.	0.9629968	0.97580	0.9512263	0.98473	0.9629968	0.97580	0.9512263	0.98473	-8.312	0.63176	D	.	.	0.737	0.74485	P	.;.	.;.	4.661744	0.74412	26.2	0.99361253390864235	0.61029	0.99715	0.98907	D	AEFI	0.910883	0.86939	D	1.0353723870953	0.96733	15.07004	0.894726367665607	0.95339	13.52842	0.994402401690605	0.33622	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	9.950000	0.98964	9.671000	0.81219	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	16.120	0.81156	889	0.27310	GPCR, rhodopsin-like, 7TM;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	3187.98	33	chr7	144004286	.	G	C	3187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.290e-01;DP=982;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.03;SOR=0.715	GT:AD:DP:GQ:PL	0/1:146,129:275:99:3202,0,3764	20	0	1	0
chr7	149253874	149253874	A	G	exonic	ZNF212	.	nonsynonymous SNV	ZNF212:NM_012256:exon5:c.A947G:p.Y316C,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.024	B	0.025	B	0.005	N	1.000	N	1.205	L	0.11	T	-0.958	T	0.124	T	0.26	0.595	7.210	2.94	0.344	0.605	3.779	0.050	0.00875701729483	0.0002	0.000399361	0.0004	9.643e-05	0	0	0	0.0002	0	0.0021	0.0003622	56	154602	rs367930564	0.0004	0.0004	0.0003	0.0005	0.0024	0.0004	0.0004	0.0021	0.0020	2.987e-05	0.0002	0	0	0	0.0007	0.0003	0.0004	0.0024	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.811e-05	0	0.0002	0.0003	0	0	0	0.0002	0	0.0027	0.071	0.35165	T	0.107	0.37730	T	0.024	0.19075	B	0.025	0.20508	B	0.005316	0.32910	N	0.141275	0.999999	0.08975	N	2.005	0.54552	M	0.11	0.61208	T	-4.73	0.80085	D	0.145	0.14622	-0.9577	0.39608	T	0.124	0.42736	T	10	0.0056743324	0.00126	T	0.008757	0.23123	T	0.050	0.13987	.	.	0.595953376904	0.59274	0.5554044796569184	0.55467	0.403895571161	0.41309	0.342183351517	0.16765	T	0.152274	0.49260	T	-0.419919	0.01712	T	-0.381819	0.35511	T	0.0495589007140091	0.05423	T	0.761924	0.38711	T	0.15693341	0.35388	0.16195004	0.37644	0.15693341	0.35388	0.16195004	0.37643	-8.86	0.66791	D	.	.	0.443	0.61857	A	.	.	1.549644	0.19861	14.47	0.92793522985376509	0.22313	0.25904	0.22837	N	AEFDGBCI	0.097824	0.19722	N	-0.643504406643969	0.17649	0.910007	-0.614716252294574	0.19116	1.024171	0.860193050579355	0.25210	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.491896	0.07777	0	.	.	5.31	2.94	0.33188	0.905000	0.28127	3.311000	0.37464	0.751000	0.87719	0.001000	0.13787	0.966000	0.29516	0.872000	0.41544	0.6702:0.0:0.1722:0.1575	3.779	0.08192	929	0.16858	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	1771.98	33	chr7	149253874	.	A	G	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.06;DP=849;ExcessHet=0.0000;FS=3.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.865;SOR=0.806	GT:AD:DP:GQ:PL	0/1:76,66:142:99:1786,0,1940	20	0	1	0
chr7	150993939	150993939	C	T	exonic	NOS3	.	nonsynonymous SNV	NOS3:NM_001160109:exon1:c.C136T:p.L46F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.187	B	0.084	B	0.810	N	0.648	N	0	N	4.68	T	-0.975	T	0.018	T	0.236	1.375	10.53	2.5	0.526	0.186	5.259	0.034	0.00993503295317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.048e-07	6.84e-07	0	1.424e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.702e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.26192	T	0.104	0.40747	T	0.187	0.29285	B	0.084	0.29270	B	0.809588	0.09261	N	0.893991	0.647859	0.32936	D	0	0.06538	N	4.68	0.14284	T	-0.45	0.16799	N	0.113	0.10911	-0.9750	0.36125	T	0.018	0.07565	T	10	0.08425635	0.14102	T	0.009935	0.25856	T	0.034	0.08419	0.191	0.10171	0.387850303812	0.38401	0.058788325787311385	0.05819	0.0686766132944	0.07693	0.488539516926	0.37236	T	0.135644	0.46757	T	-0.294961	0.09144	T	-0.661467	0.08167	T	0.0520067699253559	0.05848	T	0.616038	0.23564	T	0.038020004	0.04986	0.04689292	0.06637	0.038020004	0.04986	0.04689292	0.06636	-5.687	0.44748	T	.	.	0.075	0.09336	B	.;.;.	.;.;.	0.514645	0.08836	5.613	0.90210293261597629	0.19484	0.08642	0.14542	N	AEFGBCI	0.071067	0.14133	N	-0.920572869555121	0.10361	0.494774	-0.920149933399626	0.11619	0.5930422	0.999999564723302	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.56214	0.19341	0	.	.	4.38	2.5	0.29355	-0.201000	0.09466	0.573000	0.19627	-1.042000	0.01662	0.000000	0.06391	0.248000	0.23899	0.002000	0.04165	0.2027:0.6853:0.0:0.1119	5.259	0.14879	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	0.02381	507.98	39	chr7	150993939	.	C	T	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=743;ExcessHet=0.0000;FS=2.886;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-1.350e+00;SOR=1.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,20:39:99:1|0:150993937_T_C:522,0,481:150993937	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	0/2:64,0,33:97:99:1128,1321,3983,0,2662,2562	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	0/2:64,0,33:97:99:1128,1321,3983,0,2662,2562	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|1:184,86:270:99:0|1:10609943_C_T:1957,0,6601:10609943	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|1:185,85,0:270:99:0|1:10609943_C_T:1947,0,6589,2497,6837,9334:10609943	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|1:185,85,0:270:99:0|1:10609943_C_T:1947,0,6589,2497,6837,9334:10609943	0	0	15	4
chr8	18059454	18059454	T	G	exonic	ASAH1	.	nonsynonymous SNV	ASAH1:NM_001127505:exon12:c.A910C:p.K304Q	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	.	1	1510	11	0	0	11	0.00362917	.	.	722973	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.045	B	0.057	B	0.002	N	1.000	N	1.9	L	-1.3	T	-0.717	T	0.347	T	0.119	1.036	9.230	-1.11	-0.334	1.342	6.285	0.146	0.0374729699211	0.0002	0.000798722	0.0006	0	8.639e-05	0	0.0006	0.0001	0	0.0036	0.0005175	80	154602	rs139585444	0.0004	0.0004	0.0003	0.0005	0.0037	0.0003	0.0003	0.0034	0.0032	0	4.472e-05	0.0005	0	0.0006	0.0012	0.0001	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0.0001	0	0	0.0005	0	0.0002	0.0009	0.0037	0.106	0.31682	T	0.582	0.11691	T	0.045	0.21781	B	0.038	0.26280	B	0.001928	0.37643	N	0.356872	0.999994	0.08975	N	2.05	0.56469	M	-1.3	0.79571	T	-1.25	0.34198	N	0.136	0.24883	-0.7173	0.59595	T	0.347	0.71186	T	10	0.005446613	0.00120	T	0.037473	0.57640	D	0.146	0.38789	.	.	0.765514111505	0.76337	0.6568449078281252	0.65621	0.00311655079184	0.00269	0.35438734293	0.18566	T	0.473506	0.80534	T	-0.420544	0.01697	T	-0.378964	0.35845	T	0.0225971585815455	0.00976	T	0.787921	0.42712	T	0.101373985	0.23944	0.039263356	0.03978	0.101373985	0.23944	0.039263356	0.03978	-5.335	0.42582	T	0.2197560486909151	0.29615	0.091	0.20117	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.875483	0.12483	9.017	0.89215426406746701	0.18607	0.62329	0.31748	D	AEFBI	0.271392	0.38725	N	-0.658849750466302	0.17203	0.8832184	-0.692180221645697	0.17156	0.9109568	0.149474320749768	0.17416	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.53	-1.11	0.09336	0.862000	0.27553	-0.413000	0.09334	0.665000	0.62972	0.572000	0.27522	0.000000	0.08366	0.569000	0.30626	0.0:0.258:0.1208:0.6212	6.285	0.20235	923	0.18507	Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.	.	.	.	.	.	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	1635.98	35	chr8	18059454	.	T	G	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.300e-01;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=1.55;SOR=0.699	GT:AD:DP:GQ:PL	0/1:76,68:144:99:1650,0,1981	20	0	1	0
chr8	22179790	22179790	G	C	exonic	BMP1	.	nonsynonymous SNV	BMP1:NM_001199:exon7:c.G922C:p.G308R	Osteogenesis imperfecta, type XIII, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	U	1.000	D	2.325	M	-0.04	T	-0.095	T	0.456	T	0.95	5.159	32	5.67	2.666	9.864	18.534	0.696	0.102254108004	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248749437	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.97372	D	0.001458	0.38980	U	0.000000	1	0.81001	D	2.315	0.66250	M	-0.04	0.63240	T	-7.52	0.95102	D	0.921	0.94786	-0.0949	0.80216	T	0.456	0.78802	T	10	0.899783	0.89338	D	0.102254	0.77562	D	0.696	0.89007	0.711	0.84691	0.752168414251	0.74992	0.9331998516143495	0.93298	1.34284182334	0.83896	0.912159800529	0.97671	D	0.514774	0.82916	D	0.288168	0.82003	D	0.273011	0.86742	D	0.995031833648682	0.86718	D	0.993001	0.97720	D	0.90485746	0.91821	0.93802875	0.97638	0.90485746	0.91822	0.93802875	0.97638	-14.355	0.94295	D	0.7702915178174516	0.85134	0.986	0.92530	P	.;.	.;.	5.630067	0.92667	32	0.99945259185394142	0.99886	0.99645	0.98295	D	AEFDBI	0.963967	0.98600	D	0.92799231179282	0.93062	11.79782	0.912437053831895	0.96091	14.29376	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	9.998000	0.99325	11.825000	0.97352	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	18.534	0.90957	579	0.69780	Peptidase M12A|Peptidase M12A|Tolloid/BMP1 peptidase domain;.	.	.	.	.	.	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	1296.98	35	chr8	22179790	.	G	C	1296.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.551;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=-2.530e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1311,0,1455	20	0	1	0
chr8	22579203	22579203	C	G	exonic	PDLIM2	.	nonsynonymous SNV	PDLIM2:NM_021630:exon1:c.C424G:p.R142G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	.	.	.	.	.	.	1.000	D	.	.	3.12	T	-1.045	T	0.029	T	0.05	0.400	6.174	4.11	1.069	0.153	11.226	0.051	0.116394088399	.	.	0.0020	0	0	0	.	0	0	0.0026	6.47e-05	10	154602	rs757530477	7.292e-05	7.798e-05	3.486e-05	0.0001	0.0012	6.033e-05	5.584e-05	0.0010	0.0009	0	0.0002	0	0	0	0	1.295e-05	0.0001	0.0012	3.292e-05	3.284e-05	1.287e-05	5.394e-05	0.0008	1.263e-05	7.99e-06	0.0003	0.0002	0	0	6.555e-05	0	0	0	0	0	0	0.0008	0.093	0.31532	T	0.189	0.28575	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.12	0.08106	T	0.21	0.04776	N	0.201	0.22228	-1.0449	0.15854	T	0.029	0.12585	T	6	0.009857386	0.00221	T	0.116394	0.79587	D	0.051	0.14325	0.238	0.16912	0.335414705075	0.33150	0.06725961895051882	0.06663	0.0974248291006	0.11002	0.763840258121	0.76502	T	.	.	.	-0.653603	0.00069	T	-0.757184	0.03214	T	0.0238708107466342	0.01129	T	0.325667	0.06705	T	.	.	.	.	.	.	.	.	-3.236	0.12926	T	.	.	0.085	0.09965	B	.;.	.;.	1.551373	0.19880	14.48	0.68043650060550465	0.08538	0.42871	0.26973	N	ALL	0.115680	0.22735	N	-0.384360093435654	0.26026	1.417276	-0.468378749097557	0.23029	1.253861	0.999999991938095	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.01	4.11	0.47350	-0.001000	0.12880	0.657000	0.20469	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.540000	0.29938	0.0:0.8143:0.1857:0.0	11.226	0.48116	855	0.34697	.;.	.	.	.	.	.	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	395.98	21	chr8	22579203	.	C	G	395.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=421;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.090;SOR=0.826	GT:AD:DP:GQ:PL	0/1:15,18:33:99:410,0,283	20	0	1	0
chr8	23249347	23249347	C	T	exonic	CHMP7	.	nonsynonymous SNV	CHMP7:NM_001317899:exon2:c.C107T:p.A36V	.	.	427	1077	17	1	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.003	B	0.001	B	0.083	N	1.000	N	-0.345	N	0.33	T	-1.055	T	0.075	T	0.138	-0.498	1.717	4.66	1.341	1.255	7.057	0.037	0.012568833314	0.0009	0.00159744	0.0015	0.0002	0.0003	0	0	0.0011	0.0023	0.0070	0.001313	203	154602	rs149327190	0.0010	0.0010	0.0008	0.0012	0.0066	0.0009	0.0009	0.0062	0.0060	5.998e-05	0.0005	0.0023	5.061e-05	1.875e-05	0.0038	0.0006	0.0013	0.0066	0.0007	0.0007	0.0007	0.0007	0.0060	0.0006	0.0006	0.0043	0.0037	0.0002	0	0.0005	0.0020	0	9.427e-05	0	0.0008	0.0005	0.0060	0.261	0.16520	T	0.586	0.08332	T	0.003	0.11197	B	0.001	0.04355	B	0.083396	0.20756	N	0.519807	0.999726	0.20581	N	-1.04	0.01097	N	0.33	0.58323	T	-0.47	0.15178	N	0.121	0.11197	-1.0553	0.12961	T	0.075	0.30242	T	10	0.006122589	0.00138	T	0.012569	0.31260	T	0.037	0.09474	.	.	0.478353003129	0.47464	0.1985158102354756	0.19768	0.613198805805	0.55896	0.357447326183	0.19013	T	0.034475	0.23338	T	-0.527984	0.00395	T	-0.527603	0.19526	T	0.0113071901522522	0.00167	T	0.812919	0.46506	T	0.06704443	0.14481	0.063062795	0.12434	0.06704443	0.14480	0.063062795	0.12434	-3.978	0.23473	T	.	.	0.087	0.11220	B	.;.	.;.	2.024612	0.25732	16.87	0.2089172450394704	0.00772	0.47149	0.27918	N	AEFDBCI	0.084966	0.17222	N	-0.510480017359591	0.21740	1.155969	-0.310405356382386	0.27761	1.542788	0.999994355004378	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	1.272000	0.32712	4.871000	0.45567	0.547000	0.25779	0.593000	0.27690	1.000000	0.68203	0.934000	0.47231	0.2635:0.6543:0.0:0.0822	7.057	0.24283	760	0.50470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2877.98	36	chr8	23249347	.	C	T	2877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.216e+00;DP=944;ExcessHet=0.0000;FS=6.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=1.60;SOR=0.609	GT:AD:DP:GQ:PL	0/1:98,118:216:99:2892,0,2429	20	0	1	0
chr8	25466307	25466307	T	C	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon4:c.T475C:p.S159P	.	.	431	1089	2	0	0	2	0.000917431	.	.	3425215	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.002	B	0.463	N	1.000	N	1.355	L	1.4	T	-1.029	T	0.064	T	0.061	1.058	9.319	-1.74	-0.583	0.399	1.108	0.025	0.00374116930848	.	.	6.678e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs762731661	3.172e-05	3.352e-05	1.372e-05	4.991e-05	0.0005	2.431e-05	2.175e-05	0.0004	0.0003	0	0	0	0	0	0.0002	1.803e-06	3.342e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.36	0.16964	T	0.001	0.07471	B	0.002	0.06944	B	0.462815	0.04880	N	1.306070	1	0.08975	N	0.895	0.22405	L	1.39	0.33842	T	-0.8	0.24898	N	0.097	0.07949	-1.0286	0.20908	T	0.064	0.26597	T	10	0.029010952	0.01029	T	0.003741	0.08682	T	0.025	0.05312	0.1	0.01484	0.183819452728	0.17975	0.07418894184280073	0.07355	0.0523993487686	0.05771	0.265293836594	0.05537	T	0.00867	0.19070	T	-0.53125	0.00378	T	-0.668816	0.07685	T	0.0189839727611763	0.00607	T	0.328467	0.06836	T	0.08308031	0.19169	0.05410758	0.09244	0.08308031	0.19168	0.05410758	0.09243	-3.887	0.22107	T	.	.	0.095	0.14797	B	.;.	.;.	0.551125	0.09195	5.980	0.84027698437083531	0.15055	0.09570	0.15296	N	AEFBI	0.123009	0.23841	N	-1.008491325586	0.08427	0.3950745	-1.07929050987175	0.08109	0.3972571	0.99970937053575	0.41986	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.34	-1.74	0.07622	0.397000	0.20608	0.711000	0.20937	0.609000	0.47794	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.1435:0.1667:0.297:0.3928	1.108	0.01593	887	0.27948	.;.	.	.	.	.	.	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	614.98	35	chr8	25466307	.	T	C	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.080e-01;DP=716;ExcessHet=0.0000;FS=1.236;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-1.393e+00;SOR=0.452	GT:AD:DP:GQ:PL	0/1:27,25:52:99:629,0,741	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	0/1:153,47:200:99:.:.:105,0,3212	8	0	10	3
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	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	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:56,20:76:49:49,0,1001	12	0	9	0
chr8	30612318	30612318	T	C	exonic	GTF2E2	.	nonsynonymous SNV	GTF2E2:NM_001348353:exon5:c.A530G:p.N177S	Trichothiodystrophy 6, nonphotosensitive, Autosomal recessive	.	431	1090	1	0	0	1	0.000458505	.	.	1976272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.82	P	0.392	B	0.000	D	1.000	D	2.485	M	1.44	T	-1.072	T	0.092	T	0.082	3.325	17.18	3.0	0.355	7.981	8.284	0.195	0.0375481953475	.	.	8.242e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs753435715	2.748e-06	3.42e-06	4.104e-06	1.38e-06	2.248e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.248e-05	0	0	0	0	1.807e-06	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.091	0.40110	T	0.82	0.45712	P	0.392	0.44215	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.42	0.70002	M	1.43	0.32958	T	-2.3	0.51157	N	0.609	0.62611	-1.0721	0.08957	T	0.092	0.35119	T	10	0.34986436	0.51870	T	0.037548	0.57683	D	0.195	0.47612	0.387	0.40788	0.485920709088	0.48224	0.4189262570193373	0.41808	0.548597812381	0.51797	0.462943851948	0.33715	T	0.100161	0.40568	T	-0.256666	0.13294	T	-0.50583	0.21743	T	0.893369376659393	0.54458	D	0.961604	0.85550	D	0.38060296	0.59360	0.2948119	0.55512	0.38060296	0.59360	0.2948119	0.55511	-5.86	0.45093	T	0.4322260118321484	0.51916	0.098	0.25396	B	.;.	.;.	3.871695	0.56212	23.7	0.99597227228064455	0.73983	0.98645	0.85080	D	AEFBI	0.730657	0.67798	D	0.196759917083506	0.51045	3.288849	0.209403987057747	0.50369	3.229636	0.990678152396371	0.32232	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	3.0	0.33773	7.961000	0.87447	7.911000	0.74030	-0.133000	0.13014	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1662:0.0:0.8338	8.284	0.31080	735	0.53711	.;.	.	.	.	.	.	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	0	0	0	0	0.02381	422.98	36	chr8	30612318	.	T	C	422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.62;ReadPosRankSum=0.686;SOR=0.420	GT:AD:DP:GQ:PL	0/1:9,15:24:99:437,0,291	20	0	1	0
chr8	30751489	30751489	C	T	exonic	UBXN8	.	nonsynonymous SNV	UBXN8:NM_001282199:exon2:c.C182T:p.S61L	.	.	459	1061	2	0	0	2	0.00094162	.	.	2254530	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5e-05	0.000199681	0.0001	0.0001	0.0002	0	0	0.0002	0	0.0001	0.0001229	19	154602	rs201560333	0.0002	0.0002	0.0001	0.0002	0.0075	0.0001	0.0001	0.0057	0.0051	0.0005	0.0005	0.0018	0	0	0.0075	7.12e-05	0.0004	3.537e-05	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0010	0.0008	0.0001	0	0.0014	0.0017	0	0	0.0034	0.0001	0.0009	0.0002	.	.	.	0.018	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.29081	.	.	.	.	.	.	.	0.10255134	0.18801	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.2873040316383458	0.28643	.	.	0.434948980808	0.29886	T	0.050289	0.28771	T	0.144277	0.68731	D	0.293411	0.87875	D	.	.	.	0.884312	0.62120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34862	B	.;.;.;.	.;.;.;.	4.258517	0.64698	24.7	0.81984609961062183	0.13960	0.81346	0.40769	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999918192499094	0.45857	0.163922	0.03765	0	0.18701	0.04157	0	0.175069	0.04249	0	0.24341	0.04801	0	0.97732	0.80922	5.71	5.71	0.89031	2.016000	0.40591	3.834000	0.40009	0.581000	0.30040	0.903000	0.31499	0.999000	0.35428	0.989000	0.64315	0.0:1.0:0.0:0.0	15.708	0.77358	418	0.81602	.;.;.;.	.	.	.	.	.	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	1630.98	102	chr8	30751489	.	C	T	1630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.304e+00;DP=1984;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-3.050e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:78,75:153:99:1645,0,1919	20	0	1	0
chr8	37875052	37875052	G	A	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon3:c.C1085T:p.A362V	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.178	B	0.021	B	0.014	N	0.974	N	1.25	L	2.5	T	-1.056	T	0.063	T	0.136	0.613	7.299	3.16	0.505	3.218	9.977	0.057	0.0121970140247	0.0002	.	3.295e-05	9.615e-05	0	0	0	4.497e-05	0	0	4.53e-05	7	154602	rs373634322	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0006	0.0006	2.987e-05	0	0	0.0009	0	0.0002	0.0002	0.0001	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0004	9.742e-05	8.256e-05	0.0001	9.9e-05	0.0001	0	0	0	0.0004	0	0	0.0002	0	0	0.148	0.30515	T	0.143	0.33219	T	0.004	0.28960	B	0.006	0.19346	B	0.013608	0.28787	N	0.299707	0.974269	0.25501	N	2.77	0.80896	M	2.08	0.34452	T	-2.8	0.59710	D	0.109	0.20129	-1.0562	0.12724	T	0.063	0.26279	T	10	0.080339134	0.13028	T	0.012197	0.30559	T	0.057	0.16321	.	.	0.373173300195	0.36924	0.35435021332571776	0.35349	0.0758758493088	0.08513	0.310993671417	0.12057	T	0.009937	0.21454	T	-0.385469	0.02876	T	-0.527048	0.19582	T	0.0718707242309677	0.08911	T	0.722228	0.34152	T	0.04668563	0.07854	0.08920991	0.20848	0.04668563	0.07854	0.08920991	0.20847	-7.221	0.56074	T	.	.	0.138	0.32202	B	.;.;.;.	.;.;.;.	2.161898	0.27541	17.50	0.912911568538048	0.20551	0.88645	0.48671	D	AEFBHCI	0.296400	0.40626	N	-0.737236363306492	0.14982	0.7510659	-0.660861233235276	0.17942	0.9563396	0.999983652385054	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.94	3.16	0.35406	2.514000	0.45164	5.902000	0.50901	-0.727000	0.03751	0.918000	0.31901	1.000000	0.68203	0.018000	0.11154	0.1581:0.0:0.8419:0.0	9.977	0.40962	799	0.44747	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1312.98	37	chr8	37875052	.	G	A	1312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.960e-01;DP=786;ExcessHet=0.0000;FS=2.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=1.03;SOR=0.523	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1327,0,931	20	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.004	B	0.090	N	0.961	N	1.665	L	0.84	T	-1.004	T	0.111	T	0.345	1.982	12.58	4.51	0.984	1.389	8.423	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	126.41	33	chr8	39963621	.	A	G	126.41	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.384e+00;DP=2478;ExcessHet=0.1072;FS=92.336;InbreedingCoeff=-0.0596;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=1.37;SOR=10.487	GT:AD:DP:GQ:PL	0/1:154,38:192:99:127,0,2538	19	0	2	0
chr8	42330971	42330971	G	T	exonic	IKBKB	.	nonsynonymous SNV	IKBKB:NM_001190720:exon21:c.G2071T:p.A691S	Immunodeficiency 15, Autosomal recessive	.	428	1078	16	0	0	16	0.00736648	.	.	751168	Severe_combined_immunodeficiency_due_to_IKK2_deficiency	MONDO:MONDO:0014267,MedGen:C4747743,OMIM:615592,Orphanet:397787	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.073	B	0.025	B	0.001	N	1.000	N	1.39	L	2.88	T	-0.855	T	0.228	T	0.325	0.993	9.055	3.2	1.215	1.792	3.497	0.120	0.0624284222058	.	0.000399361	0.0003	0	0	0.0001	0	0.0002	0.0011	0.0012	0.0002264	35	154602	rs202054179	0.0001	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0016	3.777e-05	0.0004	0.0016	0.0001	0.0001	0.0002	9.397e-05	0.0014	8.658e-05	7.251e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0.0102	0.0001	0	0.0014	0.098	0.36113	T	0.0	0.92824	D	0.018	0.24078	B	0.011	0.20508	B	0.001358	0.39310	N	0.244803	1	0.81001	D	1.5	0.37844	L	-0.83	0.75108	T	-0.01	0.07155	N	0.195	0.31590	-0.8552	0.51606	T	0.228	0.59334	T	10	0.018627256	0.00407	T	0.062428	0.68648	D	0.120	0.33359	.	.	0.702571303142	0.69998	0.200387555468694	0.19955	0.387000595785	0.39991	0.33059990406	0.15026	T	0.095715	0.39677	T	-0.330809	0.06051	T	-0.283339	0.46461	T	0.0395923167553607	0.03617	T	0.542746	0.18485	T	0.027755879	0.02013	0.031865843	0.01838	0.023430241	0.01083	0.03037863	0.01486	-2.821	0.08828	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	2.206480	0.28145	17.70	0.96115818032288158	0.28760	0.86025	0.45231	D	AEFDGBI	0.237088	0.35943	N	-0.319110714455961	0.28422	1.567561	-0.224999510068413	0.30643	1.727116	0.999979132648623	0.50053	0.732398	0.92422	0	0.601644	0.50151	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	3.2	0.35826	1.400000	0.34186	3.736000	0.39634	-0.161000	0.11593	0.996000	0.39380	1.000000	0.68203	0.037000	0.13953	0.1779:0.2722:0.5499:0.0	3.497	0.07220	666	0.61362	.;.;.;.	.	.	.	.	.	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	1531.98	37	chr8	42330971	.	G	T	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.340e-01;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=-9.100e-02;SOR=0.668	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1546,0,1711	20	0	1	0
chr8	64581466	64581466	-	GCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.676_677insGCA:p.S234_K235insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:19,37,0:56:99:1429,0,633,1487,744,2231	14	1	5	0
chr8	64581464	64581466	GCA	-	exonic	BHLHE22	.	nonframeshift deletion	BHLHE22:NM_152414:exon1:c.674_676del:p.S234del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0196	.	0.0185	0.0275	0.0401	0.0357	0.0021	0.0202	0.0070	0.0168	0.0001537	4	26028	rs779312881	0.0007	0.0059	0.0007	0.0008	0.0023	0.0007	0.0007	0.0020	0.0019	0.0014	0.0011	0.0004	0.0014	0.0013	0.0010	0.0005	0.0008	0.0023	0.0005	0.0006	0.0005	0.0005	0.0011	0.0004	0.0004	0.0007	0.0005	0.0004	0	0.0011	0	0	0.0006	0.0040	0.0004	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7512.79	45	chr8	64581463	.	GGCA	GGCAGCA,G	7512.79	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=-4.290e-01;DP=1093;ExcessHet=0.5418;FS=1.794;InbreedingCoeff=0.0735;MLEAC=6,1;MLEAF=0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.762;SOR=0.827	GT:AD:DP:GQ:PL	0/1:19,37,0:56:99:1429,0,633,1487,744,2231	14	1	5	0
chr8	66432532	66432532	C	T	exonic	ADHFE1	.	stopgain	ADHFE1:NM_144650:exon1:c.C16T:p.R6X,	.	.	306	1213	3	0	0	3	0.00123508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.005	U	1.000	A	.	.	.	.	.	.	.	.	.	2.992	15.98	3.05	0.822	0.800	12.180	.	.	0.0002	0.000199681	0.0018	0	0	0	0	0.0029	0	0.0013	0.0001552	24	154602	rs200439070	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	3.972e-05	0.0005	0.0004	0	5.118e-05	0.0017	0.0004	0.0004	0.0001	0.0003	0.0003	0.0004	0.0003	0.0007	0.0003	0.0002	0.0004	0.0003	7.215e-05	0	0.0007	0.0003	0	9.411e-05	0.0034	0.0005	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	0.004944	0.33236	U	0.187954	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112881	0.65649	D	0.246335	0.85450	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.749737	0.95681	35	0.99251712194367481	0.56891	0.16235	0.19294	N	ALL	0.097007	0.19574	N	0.0426444462480635	0.43806	2.666315	-0.295428666787557	0.28248	1.573546	0.999999999999955	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.01	3.05	0.34272	0.906000	0.28140	0.897000	0.22519	0.524000	0.24156	0.158000	0.23769	0.552000	0.25473	0.004000	0.06068	0.2171:0.7829:0.0:0.0	12.180	0.53511	788	0.46569	.	.	.	.	.	.	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	1072.98	39	chr8	66432532	.	C	T	1072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=802;ExcessHet=0.0000;FS=1.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-2.216e+00;SOR=0.491	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1087,0,995	20	0	1	0
chr8	76863213	76863215	CCT	-	exonic	ZFHX4	.	nonframeshift deletion	ZFHX4:NM_024721:exon11:c.9499_9501del:p.P3173del,	.	.	12	1504	5	0	1	6	0.00165948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0097	.	0.0070	0.0033	0.0071	0.0190	0.0004	0.0041	0.0229	0.0136	0.0001537	4	26028	rs199874527	0.0005	0.0039	0.0005	0.0006	0.0063	0.0005	0.0005	0.0057	0.0054	0.0006	0.0006	0.0005	0.0063	0.0003	0.0005	0.0002	0.0015	0.0019	0.0006	0.0006	0.0006	0.0006	0.0086	0.0005	0.0005	0.0066	0.0059	0.0006	0	0.0001	0	0.0086	0	0	0.0001	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1750.94	37	chr8	76863212	.	ACCT	A	1750.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=817;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.34;ReadPosRankSum=-4.760e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1765,0,2046	20	0	1	0
chr8	84920892	84920892	A	G	splicing	RALYL	NM_001354325:exon9:c.859-2A>G;NM_001354319:exon9:c.686-2A>G;NM_001354309:exon10:c.826-2A>G;NM_001100393:exon9:c.859-2A>G;NM_001100392:exon10:c.859-2A>G;NM_001287243:exon8:c.826-2A>G;NM_001354306:exon11:c.859-2A>G;NM_001354312:exon9:c.826-2A>G;NM_001354305:exon11:c.859-2A>G;NM_001354320:exon10:c.859-2A>G;NM_001354318:exon9:c.826-2A>G;NM_001354317:exon9:c.826-2A>G;NM_001354316:exon10:c.859-2A>G;NM_001354315:exon8:c.826-2A>G;NM_001354314:exon9:c.856-2A>G;NM_001354313:exon8:c.686-2A>G;NM_001354311:exon8:c.686-2A>G;NM_001354310:exon9:c.595-2A>G;NM_001354307:exon9:c.826-2A>G;NM_173848:exon9:c.859-2A>G;NM_001100391:exon9:c.898-2A>G;NM_001354322:exon7:c.692-2A>G;NM_001354321:exon8:c.865-2A>G;NM_001354323:exon8:c.725-2A>G;NM_001354308:exon10:c.859-2A>G;NM_001287244:exon8:c.640-2A>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.262	16.94	5.86	2.241	5.575	14.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.049e-07	1.849e-05	0	1.626e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.942e-05	0	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278013	0.81147	D	0.16157	0.80903	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.446608	0.95225	34	0.99308632142468456	0.58906	0.96403	0.68967	D	AEFI	.	.	.	1.09413813926904	0.98025	17.25785	0.957962840819546	0.97635	16.47747	0.154133738971909	0.17489	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.948005	0.61418	5.86	5.86	0.93936	5.593000	0.67242	9.174000	0.79047	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.824	0.69723	933	0.16026	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	380.98	33	chr8	84920892	.	A	G	380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.610e-01;DP=623;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.24;ReadPosRankSum=-9.100e-02;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,18:25:99:395,0,113	20	0	1	0
chr8	91362450	91362450	G	A	exonic	SLC26A7	.	nonsynonymous SNV	SLC26A7:NM_001282357:exon12:c.G509A:p.R170H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.998	D	0.000	D	0.999	D	0.805	L	-3.35	D	0.801	D	0.826	D	0.913	4.826	27.4	5.83	2.758	6.331	19.716	0.859	0.146364367818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916103823	8.222e-06	1.094e-05	6.817e-06	9.641e-06	8.981e-05	4.38e-06	3.46e-06	2.38e-05	1.259e-05	8.981e-05	0	0	0	0	0	6.304e-06	0	2.325e-05	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	2.408e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000001	0.84330	D	0.000000	0.999263	0.46490	D	0.975	0.24501	L	-3.36	0.94067	D	-3.39	0.66896	D	0.901	0.90590	0.801	0.94426	D	0.826	0.94161	D	10	0.93778235	0.93106	D	0.146364	0.82848	D	0.859	0.95691	0.786	0.90919	0.898846806572	0.89784	0.8000911256892506	0.79963	0.597061582168	0.54914	0.572023153305	0.48965	T	0.480761	0.80961	T	0.285588	0.81788	D	0.409119	0.92406	D	0.834410548210144	0.48877	D	0.89971	0.64861	D	0.603415	0.72874	0.5116639	0.71781	0.603415	0.72875	0.5116639	0.71781	-7.606	0.58353	D	.	.	0.186	0.40262	B	.;.;.;.;.	.;.;.;.;.	5.241669	0.87993	29.4	0.99935445540772794	0.99579	0.95888	0.66586	D	AEFDBI	0.661260	0.63154	D	0.686367166869007	0.78739	6.932695	0.73066880028303	0.84705	8.367745	0.968683051875875	0.29071	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.645665	0.59343	0	.	.	5.83	5.83	0.93059	6.580000	0.73930	8.497000	0.77347	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.716	0.96116	770	0.49152	.;.;.;.;.	.	.	.	.	.	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	1695.98	34	chr8	91362450	.	G	A	1695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=853;ExcessHet=0.0000;FS=1.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=-9.630e-01;SOR=0.584	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1710,0,1907	20	0	1	0
chr8	94873421	94873421	G	T	exonic	INTS8	.	nonsynonymous SNV	INTS8:NM_017864:exon22:c.G2581T:p.A861S,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.573	P	0.164	B	0.000	D	1.000	D	1.5	L	1.41	T	-0.604	T	0.297	T	0.508	2.831	15.43	4.81	2.210	7.304	17.901	0.157	0.0179418987608	.	0.000399361	0.0003	0	8.637e-05	0	0	0	0	0.0023	0.000304	47	154602	rs564070999	0.0002	0.0002	9.257e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0	3.597e-06	0.0002	0.0027	9.849e-05	9.843e-05	3.855e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0016	0	0	0	0	0	0	0	0	0	0.0031	0.051	0.39334	T	0.21	0.26714	T	0.573	0.38659	P	0.164	0.34953	B	0.000000	0.84330	D	0.051102	0.999996	0.58761	D	1.735	0.44892	L	1.41	0.33412	T	-1.24	0.31375	N	0.606	0.62357	-0.6039	0.64656	T	0.297	0.66867	T	10	0.022226006	0.00550	T	0.017942	0.39831	T	0.157	0.40909	0.669	0.80703	0.134007934775	0.12933	0.39667219647145885	0.39582	0.538583285751	0.51112	0.754647791386	0.75133	T	0.062903	0.32036	T	-0.3705	0.03569	T	-0.310522	0.43601	T	0.100393436577127	0.12401	T	0.931307	0.74459	D	0.5601348	0.70518	0.3270195	0.58603	0.5601348	0.70519	0.3270195	0.58602	-6.42	0.49665	T	0.5149042523789569	0.58809	0.131	0.28261	B	.	.	4.406130	0.68124	25.2	0.99063962737606204	0.51551	0.98644	0.85068	D	AEFBI	0.897742	0.84025	D	0.395264502767359	0.61165	4.313977	0.46363456737096	0.65597	4.843928	0.999996489204654	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	7.414000	0.79329	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.901	0.88822	577	0.69927	.	.	.	.	.	.	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	1655.98	37	chr8	94873421	.	G	T	1655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.130e+00;DP=832;ExcessHet=0.0000;FS=2.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-7.490e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1670,0,1582	20	0	1	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|2:96,0,59:155:99:1|0:102560764_C_G:2435,2614,6758,0,4038,3819:102560764	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|2:96,0,59:155:99:1|0:102560764_C_G:2435,2614,6758,0,4038,3819:102560764	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|2:96,0,59:155:99:1|0:102560764_C_G:2435,2614,6758,0,4038,3819:102560764	11	0	1	1
chr8	124060650	124060650	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon24:c.G3088A:p.V1030M,	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	U	1.000	D	2.475	M	-1.51	D	0.459	D	0.709	D	0.771	4.720	26.3	5.95	2.825	2.637	19.980	0.469	0.0577816588391	0.0013	0.000798722	0.0012	0.0002	0.0005	0	0	0.0011	0.0011	0.0038	0.0012031	186	154602	rs138376786	0.0020	0.0020	0.0019	0.0020	0.0046	0.0019	0.0019	0.0042	0.0041	0.0002	0.0006	0.0002	7.557e-05	3.744e-05	0.0003	0.0020	0.0025	0.0046	0.0010	0.0010	0.0011	0.0009	0.0035	0.0009	0.0008	0.0022	0.0018	0.0004	0	0.0009	0.0003	0	0	0	0.0015	0.0014	0.0035	0.003	0.68238	D	0.079	0.42086	T	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	1	0.81001	D	2.815	0.81989	M	-1.51	0.81399	D	-1.73	0.41046	N	0.415	0.45520	0.459	0.89959	D	0.709	0.89995	D	10	0.012092531	0.00261	T	0.057782	0.67088	D	0.469	0.76355	.	.	0.602640947006	0.59946	0.5274858280218683	0.52672	0.292535804089	0.31669	0.516044020653	0.41069	T	0.200305	0.55785	T	-0.11284	0.34300	T	0.064616	0.74552	D	0.0770072079365423	0.09600	T	0.859914	0.55237	D	0.3067312	0.53502	0.494461	0.70762	0.3067312	0.53502	0.494461	0.70762	-7.583	0.58192	D	.	.	0.389	0.58930	A	.	.	4.595269	0.72728	25.9	0.9992425629510886	0.98980	0.95575	0.65269	D	AEFDGBI	0.697547	0.65552	D	0.774459227178276	0.84487	8.301031	0.751550132479782	0.86271	8.836593	0.999999879463132	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.95	5.95	0.96415	2.240000	0.42737	4.976000	0.46431	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.980	0.97325	746	0.52331	C2 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	1299.98	38	chr8	124060650	.	G	A	1299.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.100e-01;DP=902;ExcessHet=0.0000;FS=1.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=0.278;SOR=0.880	GT:AD:DP:GQ:PL	0/1:62,59:121:99:1314,0,1454	20	0	1	0
chr8	141357221	141357221	G	T	exonic	GPR20	.	nonsynonymous SNV	GPR20:NM_005293:exon2:c.C703A:p.R235S,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.992	D	0.000	U	0.993	D	1.615	L	1.1	T	-0.866	T	0.187	T	0.592	3.180	16.64	4.77	2.197	2.791	10.839	0.232	0.0955592819397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.419e-06	7.525e-06	2.811e-06	0	9.186e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.186e-07	1.705e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.041	0.50514	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	U	0.000000	0.993044	0.41819	D	1.93	0.51437	L	1.1	0.39050	T	-2.34	0.51811	N	0.61	0.62696	-0.8657	0.50849	T	0.187	0.53707	T	10	0.5465805	0.64018	D	0.095559	0.76450	D	0.232	0.53354	0.553	0.66995	0.663207481787	0.66037	0.7177758275544793	0.71720	1.03166776097	0.75447	0.723103165627	0.70499	T	0.185847	0.53895	T	-0.0515845	0.44205	T	-0.311874	0.43458	T	0.947394073009491	0.62672	D	0.815518	0.47040	T	0.6156432	0.73530	0.6270365	0.78255	0.6156432	0.73531	0.6270365	0.78256	-4.668	0.33015	T	.	.	0.551	0.66828	A	.	.	4.699258	0.75381	26.3	0.99708297904916654	0.81143	0.57449	0.30379	D	AEFDGBCI	0.508251	0.53821	D	0.480985308999743	0.65980	4.891318	0.455371883063499	0.65062	4.776524	0.999461091317399	0.39843	0.62174	0.39705	0	0.547309	0.14657	0	0.491614	0.08109	1	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.097000	0.41373	6.481000	0.55737	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.6944:0.3056	10.839	0.45909	934	0.15400	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	2032.98	34	chr8	141357221	.	G	T	2032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=1233;ExcessHet=0.0000;FS=2.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=1.56;SOR=0.963	GT:AD:DP:GQ:PL	0/1:72,73:145:99:2047,0,1711	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	1/1:1,49,0:50:99:2142,110,0,2145,149,2184	0	17	0	0
chr8	144179494	144179494	G	C	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001099281:exon4:c.G208C:p.E70Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.986	D	0.000	U	1.000	D	2.175	M	-0.13	T	-0.221	T	0.449	T	0.474	3.558	18.14	4.83	2.238	8.216	15.396	0.206	0.0449197286581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.0	0.92824	D	0.767	0.70673	P	0.561	0.76916	P	0.000136	0.49741	U	0.077050	0.990805	0.41240	D	2.46	0.71463	M	-0.13	0.66294	T	-2.31	0.51319	N	0.584	0.65501	-0.2206	0.77135	T	0.449	0.78401	T	10	0.35322917	0.52134	T	0.04492	0.61725	D	0.206	0.49396	0.348	0.34436	0.182106788282	0.17826	0.33627208126849295	0.33540	0.375262532947	0.38983	0.478738188744	0.35883	T	0.028483	0.20623	T	0.0359415	0.56511	T	-0.186149	0.55949	T	0.966437518596649	0.67582	D	0.89481	0.63428	D	0.11555973	0.27268	0.14766023	0.34934	0.11555973	0.27268	0.14766023	0.34933	-4.654	0.43201	T	.	.	0.168	0.37652	B	.;.;.;.	.;.;.;.	4.545232	0.71481	25.7	0.99691061420548488	0.79909	0.98313	0.81530	D	AEFDGBI	0.847203	0.76406	D	0.570791402872075	0.71357	5.63855	0.534712516939081	0.70339	5.49098	0.999999998314351	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.26897	0.05253	2	0.727631	0.95156	0	.	.	4.83	4.83	0.61880	6.552000	0.73813	9.648000	0.81164	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.0:0.0:1.0:0.0	15.396	0.74519	970	0.06235	.;.;.;.	.	.	.	.	.	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	1124.98	40	chr8	144179494	.	G	C	1124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.210e-01;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-8.070e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1139,0,1351	20	0	1	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	1/2:0,10,10:20:99:.:.:782,415,382,367,0,350	3	5	9	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3362.48	34	chr9	20414378	.	A	G,*	3362.48	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.71;DP=856;ExcessHet=1.7912;FS=5.302;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.563;SOR=0.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,35,0:62:99:.:.:918,0,658,999,760,1759	15	0	5	0
chr9	21206547	21206547	C	A	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G551T:p.R184I,	.	.	427	1094	0	1	0	2	0.000913242	.	.	2364714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.357	B	0.302	B	0.574	N	1.000	N	2.61	M	3.71	T	-1.085	T	0.032	T	0.397	2.415	14.03	3.23	1.806	-1.310	11.862	0.127	0.00329880672002	.	.	8.24e-06	0	8.637e-05	0	0	0	0	0	6.5e-06	1	154602	rs748009686	1.847e-05	1.847e-05	1.361e-05	2.338e-05	8.947e-05	1.265e-05	1.084e-05	2.986e-05	1.805e-05	0	8.947e-05	0	0	0	0	1.709e-05	1.656e-05	3.479e-05	1.974e-05	1.971e-05	2.572e-05	1.347e-05	4.41e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.007	0.59928	D	0.002	0.79402	D	0.357	0.33788	B	0.302	0.41118	B	0.574448	0.11206	N	0.807431	0.999976	0.18612	N	3.4	0.91674	M	3.71	0.04046	T	-5.61	0.86686	D	0.31	0.34981	-1.0847	0.06462	T	0.032	0.13635	T	10	0.20818603	0.37139	T	0.003299	0.07329	T	0.127	0.34888	.	.	0.322786055943	0.31880	0.11971135471091802	0.11898	0.377942332906	0.39216	0.374214857817	0.21434	T	0.009208	0.08397	T	-0.264624	0.12364	T	-0.517261	0.20572	T	0.54620609693227	0.34336	D	0.645335	0.25688	T	0.21874663	0.44390	0.41580993	0.65684	0.21874663	0.44390	0.41580993	0.65685	-4.687	0.33246	T	.	.	0.111	0.21578	B	.	.	1.174330	0.15644	12.00	0.96562730076573067	0.30265	0.06135	0.12114	N	AEFI	0.037644	0.05207	N	-0.446008112072477	0.23875	1.285261	-0.603652688050379	0.19399	1.040607	0.00944965843378028	0.11855	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.23	3.23	0.36150	-1.472000	0.02448	.	.	-1.567000	0.00939	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	11.862	0.51749	840	0.37365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4518.98	34	chr9	21206547	.	C	A	4518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=2177;ExcessHet=0.0000;FS=0.530;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;MQRankSum=-4.780e+00;QD=10.58;ReadPosRankSum=-7.240e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/1:231,196:427:99:4533,0,6025	20	0	1	0
chr9	34657139	34657139	A	C	exonic	IL11RA	.	nonsynonymous SNV	IL11RA:NM_001142784:exon5:c.A436C:p.T146P,	Craniosynostosis and dental anomalies, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.885	P	0.148	N	0.551	D	1.905	M	1.28	T	-0.759	T	0.150	T	0.78	3.246	16.88	2.95	0.872	1.216	7.176	0.205	0.0328738777869	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs775152788	2.737e-06	2.736e-06	2.724e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.58626	T	0.015	0.61642	D	0.989	0.62824	D	0.885	0.62825	P	0.148172	0.18057	N	0.603439	0.551392	0.32136	D	2.485	0.72352	M	1.28	0.35960	T	-0.71	0.61435	N	0.779	0.77789	-0.7590	0.57460	T	0.150	0.47681	T	10	0.37123078	0.53491	T	0.032874	0.54583	D	0.205	0.49236	0.488	0.57257	0.60221348894	0.59903	0.852270126112104	0.85189	0.797227952775	0.66088	0.464661836624	0.33949	T	0.207784	0.56752	T	0.0689205	0.60716	T	-0.138777	0.60223	T	0.915119349956512	0.57202	D	0.792821	0.43457	T	0.6445447	0.75073	0.37954012	0.63006	0.6445447	0.75074	0.37954012	0.63006	-8.527	0.64608	D	0.5368919399211232	0.60703	0.268	0.68913	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.907720	0.56965	23.8	0.99575010622998084	0.72621	0.71490	0.35035	D	AEFBCI	0.492399	0.52906	N	0.364226299264719	0.59494	4.129365	0.32062596037949	0.56752	3.839167	0.99630675085596	0.34656	0.661447	0.50134	0	0.694456	0.67091	0	0.644132	0.48003	0	0.59522	0.37078	0	.	.	5.32	2.95	0.33285	1.420000	0.34411	4.578000	0.43908	0.740000	0.86194	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.8154:0.0:0.1846:0.0	7.176	0.24921	337	0.86119	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	1313.98	34	chr9	34657139	.	A	C	1313.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=805;ExcessHet=0.0000;FS=6.334;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.253;SOR=0.249	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1328,0,978	20	0	1	0
chr9	35556059	35556059	C	T	exonic	RUSC2	.	nonsynonymous SNV	RUSC2:NM_001330740:exon3:c.C130T:p.R44W	.	.	432	1085	5	0	0	5	0.00229885	.	.	1434084	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.99	D	0.425	B	0.006	N	0.997	N	0.55	N	1.71	T	-1.059	T	0.033	T	0.21	1.492	10.94	2.44	0.619	1.627	2.983	0.100	0.0194022210258	.	.	7.415e-05	0	0	0.0001	0	0	0	0.0005	5.82e-05	9	154602	rs776792847	3.831e-05	3.831e-05	2.859e-05	4.813e-05	0.0005	3.025e-05	2.719e-05	0.0004	0.0003	0	2.236e-05	0	7.557e-05	0	0.0002	4.496e-06	4.967e-05	0.0005	3.943e-05	3.94e-05	2.57e-05	5.38e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	0.094	0.31383	T	0.146	0.32891	T	0.99	0.63424	D	0.425	0.45259	B	0.005920	0.32413	N	0.306687	0.996763	0.22909	N	1.355	0.33814	L	1.71	0.26737	T	0.08	0.06026	N	0.243	0.27435	-1.0594	0.11905	T	0.033	0.14160	T	10	0.081760824	0.13421	T	0.019402	0.41752	T	0.100	0.28662	0.452	0.51448	0.196089822672	0.19227	0.6625797587331287	0.66194	0.549784764772	0.51865	0.372603625059	0.21205	T	0.02521	0.18894	T	-0.45299	0.01084	T	-0.552206	0.17114	T	0.151630142629902	0.17233	T	0.805419	0.45334	T	0.038750775	0.05221	0.031546734	0.01758	0.038750775	0.05221	0.031546734	0.01758	-6.164	0.47631	T	.	.	0.103	0.19398	B	.;.	.;.	4.063087	0.60307	24.2	0.98324259885792864	0.40270	0.84484	0.43566	D	AEFDBI	0.343759	0.43947	N	-0.128740911714525	0.36143	2.085313	-0.0784781011652609	0.36281	2.109443	0.999971776965235	0.50053	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.34	2.44	0.28875	1.713000	0.37570	2.717000	0.34282	-0.942000	0.02081	0.976000	0.34826	0.999000	0.35428	0.941000	0.48210	0.1465:0.5566:0.1418:0.155	2.983	0.05597	200	0.92234	.;.	.	.	.	.	.	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	1264.98	39	chr9	35556059	.	C	T	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.233e+00;DP=826;ExcessHet=0.0000;FS=1.540;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-6.710e-01;SOR=0.551	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1279,0,1176	20	0	1	0
chr9	35906589	35906589	-	CCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCA:p.H105_P106insHHH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:4,0,0,22,0,0:26:82:.:.:837,850,998,850,998,998,0,148,148,82,850,998,998,148,998,850,998,998,148,998,998	13	1	1	0
chr9	35906589	35906589	-	CCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCA:p.H105_P106insHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:4,0,0,22,0,0:26:82:.:.:837,850,998,850,998,998,0,148,148,82,850,998,998,148,998,850,998,998,148,998,998	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA:p.H107_R108insHHPHHTPHHLHHHHHHPH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:4,0,0,22,0,0:26:82:.:.:837,850,998,850,998,998,0,148,148,82,850,998,998,148,998,850,998,998,148,998,998	13	1	1	0
chr9	35906589	35906589	-	CCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.302_303insCCACCACCACCA:p.H105_P106insHHHH,	.	.	713	702	43	17	47	124	0.0519919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7124.21	33	chr9	35906586	.	TCCA	T,TCCACCACCACCA,TCCACCACCA,TCCACCACCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCTCCACCA,TCCACCACCACCACCA	7124.21	.	AC=4,1,1,1,3;AF=0.095,0.024,0.024,0.024,0.071;AN=42;BaseQRankSum=0.814;DP=993;ExcessHet=0.2067;FS=2.348;InbreedingCoeff=0.2330;MLEAC=4,1,1,1,3;MLEAF=0.095,0.024,0.024,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=27.09;ReadPosRankSum=0.818;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:4,0,0,22,0,0:26:82:.:.:837,850,998,850,998,998,0,148,148,82,850,998,998,148,998,850,998,998,148,998,998	13	1	1	0
chr9	39359552	39359552	G	A	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.G1787A:p.R596Q,	.	.	575	879	68	0	0	68	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.941	P	0.689	P	0.059	N	1.000	N	2.02	M	2.89	T	-1.067	T	0.037	T	0.244	1.529	11.07	0.581	0.225	-0.772	4.077	0.060	0.000599555131866	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438348415	0.0070	0.0083	0.0052	0.0087	0.0585	0.0068	0.0068	0.0571	0.0565	0.0008	0.0028	0.0284	0.0295	0.0002	0.0241	0.0021	0.0090	0.0585	0.0047	0.0062	0.0036	0.0059	0.0638	0.0044	0.0043	0.0577	0.0554	0.0005	0	0.0034	0.0350	0.0135	0.0004	0.0069	0.0021	0.0067	0.0638	.	.	.	0.21	0.26714	T	.	.	.	.	.	.	0.058787	0.22374	N	0.321964	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.156	0.16168	-0.9832	0.34258	T	0.016	0.06425	T	10	0.004602343	0.00096	T	0.001214	0.01583	T	0.010	0.01040	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.307185	0.07998	T	-0.679026	0.07043	T	0.10759462416172	0.13172	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729478	0.10985	7.648	0.99726200316220281	0.82406	0.00671	0.02892	N	AEFI	0.035374	0.04543	N	-1.07284279045767	0.07147	0.3311479	-1.16747451909524	0.06460	0.3110174	1.35875070236354E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.95	1.03	0.19161	-0.149000	0.10189	-15.955000	0.00333	-0.211000	0.08354	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.1952:0.0:0.8048:0.0	4.654	0.11995	988	0.01987	SPATA31/FAM205	.	.	.	.	.	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	2988.92	42	chr9	39359552	.	G	A	2988.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=8.61;DP=1809;ExcessHet=0.6776;FS=6.752;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=26.03;MQRankSum=-5.570e-01;QD=3.61;ReadPosRankSum=1.29;SOR=0.345	GT:AD:DP:GQ:PL	0/1:119,38:157:99:651,0,2895	17	0	4	0
chr9	39360569	39360569	C	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.C2804T:p.T935I,	.	.	431	1061	30	0	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.001	B	0.012	B	0.145	N	1.000	N	0.695	N	3.65	T	-0.942	T	0.011	T	0.124	-0.226	2.906	0.41	-0.277	-0.208	4.427	0.013	0.000981093643997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404309393	0.0003	0.0039	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	0.0002	6.733e-05	0.0007	0.0021	0	0.0012	4.415e-05	0.0003	0.0035	0.0024	0.0047	0.0021	0.0027	0.0270	0.0022	0.0021	0.0230	0.0214	0.0030	0	0.0016	0.0105	0.0029	0	0	0.0007	0.0030	0.0270	.	.	.	0.227	0.25362	T	.	.	.	.	.	.	0.145391	0.02919	N	1.773210	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.045	0.01740	-0.9505	0.40885	T	0.013	0.04985	T	10	0.006163448	0.00139	T	0.001346	0.01910	T	0.007	0.00512	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.259766	0.12927	T	-0.610912	0.11911	T	0.115202185223906	0.13954	T	0.347365	0.07649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096505	0.04991	1.549	0.45848329066527499	0.03629	0.00606	0.02697	N	AEFI	0.025690	0.01804	N	-1.13272285352989	0.06069	0.2783974	-1.2422400143797	0.05247	0.2495462	1.09969535250592E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.95	-0.146	0.12775	-0.720000	0.05072	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5248:0.2889:0.1863	3.072	0.05857	988	0.01987	.	.	.	.	.	.	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	540.92	38	chr9	39360569	.	C	T	540.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.465;DP=1074;ExcessHet=0.6776;FS=4.328;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=31.18;MQRankSum=-3.041e+00;QD=1.32;ReadPosRankSum=-1.251e+00;SOR=0.365	GT:AD:DP:GQ:PL	0/1:86,13:99:71:71,0,2374	17	0	4	0
chr9	41960805	41960805	A	-	exonic	CNTNAP3B	.	frameshift deletion	CNTNAP3B:NM_001201380:exon12:c.1844delT:p.L615Rfs*10,	.	.	427	1004	91	0	0	91	0.043354	.	.	389864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375643696	0.0047	0.0087	0.0036	0.0058	0.0387	0.0046	0.0045	0.0375	0.0371	0.0006	0.0020	0.0229	0.0131	0.0002	0.0169	0.0018	0.0062	0.0387	0.0035	0.0064	0.0027	0.0043	0.0425	0.0032	0.0031	0.0376	0.0357	0.0004	0	0.0024	0.0286	0.0057	0.0002	0.0034	0.0021	0.0043	0.0425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	569.64	34	chr9	41960804	.	CA	C	569.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.180e-01;DP=947;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0764;MLEAC=3;MLEAF=0.071;MQ=34.45;MQRankSum=-1.302e+00;QD=2.02;ReadPosRankSum=-1.400e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/1:91,8:99:17:17,0,3258	18	0	3	0
chr9	41997633	41997633	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon6:c.G862A:p.V288M,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs539147702	9.449e-05	0.0001	6.813e-05	0.0001	0.0005	8.142e-05	7.657e-05	0.0004	0.0003	6.007e-05	0.0001	0	2.527e-05	1.873e-05	0.0002	6.478e-05	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0010	6.565e-05	5.366e-05	0.0004	0.0003	7.383e-05	0	0.0002	0	0	9.455e-05	0	5.895e-05	0	0.0010	0.004	0.65419	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.15	0.86481	D	-2.18	0.49187	N	0.47	0.60749	.	.	.	.	.	.	.	0.27595696	0.45156	T	.	.	.	.	.	.	.	0.528959857459	0.52544	0.33629842525742126	0.33542	.	.	0.674912571907	0.63540	T	0.417321	0.77001	T	0.24249	0.77896	D	0.238322	0.85067	D	.	.	.	0.968103	0.88413	D	0.049877144	0.08925	0.21564758	0.46162	0.049877144	0.08925	0.21564758	0.46161	-8.0	0.61071	D	.	.	0.170	0.39356	B	.;.;.;.;.	.;.;.;.;.	3.075239	0.41348	21.3	0.64943463337550555	0.07634	0.37831	0.25851	N	AEFI	.	.	.	.	.	.	.	.	.	4.3333322787591E-6	0.01202	0.164513	0.03853	0	0.063388	0.01293	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0852691	0.19417	1.71	-3.42	0.04521	1.926000	0.39715	-0.769000	0.07503	0.281000	0.18624	0.928000	0.32210	0.000000	0.08366	0.588000	0.31090	0.3267:0.4725:0.2008:0.0	4.540	0.11455	994	0.00715	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	417.98	35	chr9	41997633	.	C	T	417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.140e-01;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.21;MQRankSum=-3.040e-01;QD=3.98;ReadPosRankSum=-9.790e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:78,27:105:99:432,0,1772	20	0	1	0
chr9	66919652	66919652	G	A	exonic	ZNF658	.	nonsynonymous SNV	ZNF658:NM_001317916:exon5:c.G2086A:p.A696T	.	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	.	.	0.932	N	0.455	N	3.16	T	-0.925	T	0.009	T	0.074	-0.679	1.040	-1.38	-0.386	-0.829	2.298	0.013	0.00909704141002	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs553939055	2.808e-05	2.805e-05	1.499e-05	4.13e-05	0.0005	2.089e-05	1.88e-05	0.0003	0.0003	0	0	0	0	0	0	0	1.66e-05	0.0005	1.332e-05	1.318e-05	1.302e-05	1.364e-05	0.0002	2.21e-06	8.3e-07	.	.	0	0	0	0	0	0	0	1.48e-05	0	0.0002	.	.	.	0.583	0.08419	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.15888	.	.	.	.	.	.	.	0.06785303	0.09512	T	.	.	.	.	.	.	.	.	.	0.03207487377538666	0.03155	.	.	.	.	.	3.53E-4	0.00102	T	.	.	.	.	.	.	.	.	.	0.257374	0.04056	T	.	.	.	.	.	.	.	.	-6.66	0.51508	T	.	.	0.175	0.38354	B	.;.	.;.	0.505906	0.08746	5.524	.	.	.	.	.	.	0.025801	0.01829	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.527000	0.06287	-13.325000	0.00466	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	.	.	.	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	.	.	.	.	.	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	967.06	46	chr9	66919652	.	G	A	967.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.823e+00;DP=816;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.024;MQ=42.36;MQRankSum=-3.682e+00;QD=9.21;ReadPosRankSum=0.019;SOR=0.784	GT:AD:DP:GQ:PL	0/1:59,46:105:99:981,0,1581	20	0	1	0
chr9	66987228	66987228	T	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3270C:p.K1090N,	.	.	662	791	60	9	0	78	0.046988	.	.	2334438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201727394	0.0060	0.0096	0.0046	0.0075	0.0460	0.0059	0.0059	0.0446	0.0441	0.0036	0.0035	0.0218	0.0060	0.0005	0.0186	0.0024	0.0085	0.0460	0.0044	0.0098	0.0036	0.0052	0.0457	0.0041	0.0039	0.0398	0.0375	0.0042	0	0.0027	0.0222	0.0046	0.0001	0.0083	0.0016	0.0040	0.0457	.	.	.	0.681	0.06090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.004206866	0.00084	T	.	.	.	.	.	.	.	.	.	0.19206673839906713	0.19124	.	.	.	.	.	5.89E-4	0.00238	T	.	.	.	.	.	.	.	.	.	0.312769	0.06128	T	.	.	.	.	.	.	.	.	-4.107	0.25394	T	.	.	0.064	0.01762	B	.	.	0.388888	0.07604	4.266	.	.	.	.	.	.	0.011270	0.00096	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111000	0.15292	-5.189000	0.01814	-0.868000	0.02581	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	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	0	0	0	0	0.1579	3889.68	35	chr9	66987228	.	T	G	3889.68	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.26;DP=1122;ExcessHet=0.0015;FS=8.850;InbreedingCoeff=0.6042;MLEAC=7;MLEAF=0.184;MQ=47.07;MQRankSum=-7.229e+00;QD=7.75;ReadPosRankSum=1.41;SOR=1.270	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1735,177,0	15	2	2	2
chr9	66989569	66989569	C	T	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G929A:p.C310Y,	.	.	470	1035	17	0	0	17	0.00814566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.661	P	0.076	B	0.023	N	1.000	N	0	N	3.77	T	-0.964	T	0.007	T	0.258	-0.617	1.256	1.31	0.484	1.115	6.671	0.061	0.00193622393645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879985392	0.0002	0.0012	0.0002	0.0002	0.0022	0.0002	0.0002	0.0018	0.0017	0.0001	4.847e-05	0.0014	0.0022	0	0.0014	4.704e-05	9.66e-05	0.0007	0.0016	0.0023	0.0014	0.0018	0.0188	0.0014	0.0013	0.0134	0.0116	0.0013	0	0.0012	0.0079	0.0034	0	0.0057	0.0010	0.0011	0.0188	.	.	.	0.282	0.21545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	0.0052527785	0.00115	T	.	.	.	.	.	.	.	.	.	0.050211009429770935	0.04964	.	.	.	.	.	8.91E-4	0.00456	T	.	.	.	.	.	.	.	.	.	0.392161	0.09760	T	.	.	.	.	.	.	.	.	-4.488	0.30731	T	.	.	0.114	0.22680	B	.	.	0.512350	0.08810	5.590	.	.	.	.	.	.	0.051649	0.09146	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723000	0.25609	-1.321000	0.05722	0.215000	0.18024	0.001000	0.13787	0.000000	0.08366	0.110000	0.18741	.	.	.	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	0	0	0	0	0.09524	322.94	44	chr9	66989569	.	C	T	322.94	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.29;DP=981;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=23.55;MQRankSum=-3.645e+00;QD=1.24;ReadPosRankSum=2.22;SOR=0.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,7:40:75:.:.:75,0,795	17	0	4	0
chr9	75069074	75069074	G	T	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon6:c.C346A:p.P116T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.999	D	0.941	D	0.000	D	1.000	D	2.55	M	-0.51	T	-0.105	T	0.506	D	0.698	3.715	18.87	5.28	1.627	5.952	15.408	0.505	0.0667309363748	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482043349	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.70582	D	0.899	0.77913	P	0.591	0.67658	P	0.000001	0.84330	D	0.055636	1	0.81001	D	2.84	0.82582	M	-0.51	0.70597	T	-7.57	0.95246	D	0.511	0.55366	-0.1049	0.79987	T	0.506	0.81377	D	10	0.6949105	0.72082	D	0.066731	0.69961	D	0.505	0.78662	0.525	0.62967	0.730279520082	0.72788	0.6163156104067488	0.61563	0.0961356641616	0.10851	0.495432347059	0.38192	T	0.194	0.54899	T	0.158293	0.70042	D	-0.0103994	0.69658	D	0.997288584709167	0.91194	D	0.946505	0.91859	D	0.84485334	0.86958	0.72560483	0.83792	0.84485334	0.86960	0.72560483	0.83793	-9.078	0.68197	D	.	.	0.130	0.27762	B	.;.;.	.;.;.	3.988197	0.58674	24.0	0.99794963953948501	0.88017	0.98081	0.79437	D	AEFBI	0.750281	0.69145	D	0.521524990960874	0.68362	5.206991	0.4869962453324	0.67126	5.042674	0.999999486712285	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	5.28	0.74118	4.875000	0.62765	7.520000	0.59748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.350000	0.25659	0.0669:0.0:0.9331:0.0	15.408	0.74620	727	0.54702	.;.;.	.	.	.	.	.	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	772.98	33	chr9	75069074	.	G	T	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.880e-01;DP=755;ExcessHet=0.0000;FS=0.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.615;SOR=0.527	GT:AD:DP:GQ:PL	0/1:32,35:67:99:787,0,729	20	0	1	0
chr9	81634100	81634100	T	C	exonic	TLE1	.	nonsynonymous SNV	TLE1:NM_001303103:exon7:c.A604G:p.R202G	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.967	D	0.916	D	0.001	N	1.000	D	1.475	L	1.38	T	-0.672	T	0.234	T	0.71	2.639	14.78	5.7	2.174	3.912	15.964	0.122	0.0438575891417	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199776589	1.375e-05	1.437e-05	1.093e-05	1.66e-05	0.0007	8.98e-06	7.3e-06	0.0002	0.0001	0	0	0	0	0	0.0007	4.511e-06	0.0001	3.555e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.72154	D	0.08	0.41913	T	0.0	0.56408	B	0.003	0.62418	B	0.001160	0.40056	N	0.235594	0.999992	0.81001	D	.	.	.	0.82	0.49358	T	-2.96	0.69950	D	0.713	0.71587	-0.6723	0.61724	T	0.234	0.60014	T	10	0.38659772	0.54586	T	0.043858	0.61196	D	0.122	0.33800	0.281	0.23642	0.427162283902	0.42336	0.2300005951841095	0.22915	0.526482578618	0.50275	0.707641720772	0.68251	T	0.647561	0.89265	D	0.0870988	0.62862	D	-0.112665	0.62398	T	0.792201280593872	0.45833	D	0.909809	0.76191	D	0.28132728	0.51175	0.26907828	0.52783	0.28132728	0.51175	0.26907828	0.52782	-8.02	0.61206	D	.	.	0.147	0.39613	B	.;.;.	.;.;.	4.390339	0.67755	25.1	0.99739184337380382	0.83337	0.91695	0.54067	D	ALL	0.796480	0.72360	D	0.262482710520039	0.54261	3.591935	0.377336897113208	0.60171	4.201737	0.999999999996672	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	6.166000	0.71739	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.964	0.79746	979	0.04160	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1135.98	34	chr9	81634100	.	T	C	1135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=791;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=1.60;SOR=0.740	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1150,0,856	20	0	1	0
chr9	85547151	85547151	T	G	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon25:c.A3795C:p.E1265D	.	.	436	1065	21	0	0	21	0.0097629	.	.	2826179	not_provided|AGTPBP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.004	B	0.001	D	1.000	D	-0.55	N	2.34	T	-0.992	T	0.010	T	0.046	0.874	8.545	2.29	1.089	0.171	6.560	0.031	0.00355621111511	0.0048	0.00299521	0.0048	0.0008	0.0042	0	0.0009	0.0071	0.0077	0.0021	0.0048835	755	154602	rs138412470	0.0057	0.0057	0.0058	0.0056	0.0134	0.0056	0.0056	0.0110	0.0101	0.0010	0.0053	0.0068	2.527e-05	0.0009	0.0134	0.0064	0.0068	0.0021	0.0041	0.0041	0.0045	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0011	0	0.0042	0.0058	0.0002	0.0008	0.0068	0.0069	0.0057	0.0021	0.578	0.06891	T	1.0	0.01155	T	0.0	0.09854	B	0.001	0.10090	B	0.000653	0.42656	D	0.237618	0.739208	0.81001	D	-0.745	0.01742	N	2.33	0.16492	T	0.04	0.06488	N	0.086	0.06322	-0.9918	0.32141	T	0.010	0.03765	T	10	0.0020323396	0.00029	T	0.003556	0.08092	T	0.031	0.07369	0.095	0.01241	0.210429274316	0.20668	0.06835794157517444	0.06773	0.0499190563803	0.05480	0.397492229939	0.24720	T	0.044675	0.26888	T	-0.684849	0.00045	T	-0.75237	0.03395	T	0.00168903351854802	0.00017	T	0.784022	0.42156	T	0.051265713	0.09390	0.05631082	0.10038	0.05875675	0.11859	0.039692342	0.04121	-3.78	0.20581	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	1.274184	0.16732	12.73	0.9036468242379625	0.19628	0.65813	0.32864	D	AEFGI	0.109382	0.21727	N	-0.567870922523877	0.19926	1.046693	-0.339500698144633	0.26835	1.484911	0.33460800686151	0.19521	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	2.29	0.27658	0.311000	0.19129	0.814000	0.21781	0.665000	0.62972	0.932000	0.32345	0.875000	0.27637	0.993000	0.69303	0.1833:0.0:0.2101:0.6066	6.560	0.21680	951	0.11083	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1627.98	33	chr9	85547151	.	T	G	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.426e+00;DP=815;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.308;SOR=0.396	GT:AD:DP:GQ:PL	0/1:57,72:129:99:1642,0,1431	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	0/1:235,169:419:99:972,0,3421	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	2/5:1,0,51,0,0,54:106:99:4032,4114,4346,2177,2238,2064,4114,4346,2238,4346,4114,4346,2238,4346,4346,1913,2186,0,2186,2186,2211	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	2/5:1,0,51,0,0,54:106:99:4032,4114,4346,2177,2238,2064,4114,4346,2238,4346,4114,4346,2238,4346,4346,1913,2186,0,2186,2186,2211	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	2/5:1,0,51,0,0,54:106:99:4032,4114,4346,2177,2238,2064,4114,4346,2238,4346,4114,4346,2238,4346,4346,1913,2186,0,2186,2186,2211	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	2/5:1,0,51,0,0,54:106:99:4032,4114,4346,2177,2238,2064,4114,4346,2238,4346,4114,4346,2238,4346,4346,1913,2186,0,2186,2186,2211	1	2	3	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I	.	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.882	P	0.238	B	0.002	N	1.000	D	1.04	L	0.09	T	-0.912	T	0.142	T	0.115	3.299	17.08	3.58	0.641	3.424	11.070	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4054.11	40	chr9	93308387	.	G	A	4054.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.728;DP=978;ExcessHet=0.1072;FS=1.899;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.14;SOR=0.575	GT:AD:DP:GQ:PL	0/1:67,97:164:99:2282,0,1349	19	0	2	0
chr9	94101750	94101750	A	G	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon7:c.A2198G:p.K733R	.	.	427	1094	1	0	0	1	0.00045683	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.976	D	0.761	P	0.000	D	1.000	D	2.14	M	2.23	T	-1.093	T	0.086	T	0.535	4.029	20.7	5.33	2.015	6.062	14.496	0.091	0.0107102660429	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs546449405	3.097e-05	3.147e-05	1.781e-05	4.426e-05	0.0005	2.361e-05	2.108e-05	0.0004	0.0003	0	0	0	0	0	0	9.045e-07	6.667e-05	0.0005	1.971e-05	1.969e-05	1.286e-05	2.688e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.025e-05	0	0	0	0	0	0	0	0	0	0.0006	0.051	0.39334	T	0.089	0.42086	T	0.941	0.58310	P	0.462	0.56482	P	0.000000	0.84330	D	0.046904	1	0.81001	D	2.615	0.76484	M	2.23	0.18083	T	-1.14	0.29323	N	0.325	0.42931	-1.0925	0.05128	T	0.086	0.33522	T	10	0.05195266	0.05154	T	0.01071	0.27557	T	0.091	0.26358	0.23	0.15705	0.477219869099	0.47349	0.42584105147026036	0.42501	0.458275355136	0.45440	0.501431822777	0.39028	T	0.049501	0.28324	T	-0.326997	0.06342	T	-0.345574	0.39712	T	0.22403761335015	0.21664	T	0.873813	0.58316	D	0.14261223	0.32812	0.17152713	0.39341	0.14261223	0.32811	0.17152713	0.39340	-3.918	0.22572	T	.	.	0.137	0.34558	B	.;.;.;.	.;.;.;.	4.068279	0.60425	24.2	0.99808406688701901	0.89264	0.99435	0.95993	D	AEFBI	0.799298	0.72560	D	0.51484392274159	0.67966	5.152849	0.516880474123631	0.69126	5.316	0.99999665745647	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.33	5.33	0.75683	6.058000	0.70754	7.986000	0.76093	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	1.0:0.0:0.0:0.0	14.496	0.67272	871	0.31377	.;.;.;.	.	.	.	.	.	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	1692.98	35	chr9	94101750	.	A	G	1692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-4.050e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1707,0,1677	20	0	1	0
chr9	94567310	94567310	G	A	exonic	FBP2	.	nonsynonymous SNV	FBP2:NM_003837:exon5:c.C665T:p.A222V,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.528	P	0.022	B	0.000	D	1.000	D	1.57	L	-0.63	T	-0.563	T	0.249	T	0.221	3.864	19.63	5.15	2.397	6.548	18.622	0.154	.	7.7e-05	0.00259585	0.0016	0	0	0	0	0.0001	0.0011	0.0108	0.0013519	209	154602	rs371546490	0.0006	0.0006	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	2.987e-05	0	0	0	1.873e-05	0.0007	5.845e-05	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	6.541e-05	0	0.0002	0	0	5.881e-05	0	0.0089	0.056	0.38185	T	0.12	0.35970	T	0.528	0.37661	P	0.022	0.19653	B	0.000009	0.62929	D	0.149301	0.999945	0.51968	D	1.86	0.49225	L	-0.63	0.72011	T	-1.44	0.35399	N	0.347	0.38848	-0.5633	0.66278	T	0.249	0.61843	T	10	0.009168446	0.00207	T	.	.	.	0.154	0.40340	.	.	0.788080071805	0.78611	0.45609203435718865	0.45527	0.134054930346	0.15102	0.308921128511	0.11745	T	0.200176	0.55768	T	-0.398525	0.02368	T	-0.337554	0.40622	T	0.114990932364849	0.13933	T	0.555444	0.19245	T	0.25594115	0.48631	0.17221761	0.39460	0.25594115	0.48631	0.17221761	0.39459	-6.723	0.51984	T	.	.	0.099	0.16538	B	.	.	3.085388	0.41523	21.4	0.99717971453348231	0.81843	0.97862	0.77688	D	AEFBI	0.884875	0.81492	D	0.251306478898546	0.53702	3.538114	0.36793024414813	0.59596	4.138696	0.999999999502144	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	7.924000	0.86974	5.034000	0.46851	-0.109000	0.15193	1.000000	0.71638	0.998000	0.33993	0.132000	0.19645	0.0:0.0:1.0:0.0	18.622	0.91282	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	893.98	35	chr9	94567310	.	G	A	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.05;ReadPosRankSum=1.76;SOR=0.723	GT:AD:DP:GQ:PL	0/1:67,44:111:99:908,0,1471	20	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	2/2:0,0,10:10:31:.:.:451,451,451,31,31,0	2	0	1	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R,	.	.	422	1055	45	0	0	45	0.0208817	.	.	3210553	COL15A1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.993	D	0.978	D	0.000	D	0.999	D	1.5	L	1.56	T	-1.038	T	0.103	T	0.361	3.415	17.54	5.67	2.288	5.419	12.586	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	10392.9	202	chr9	99054627	.	A	G	10392.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=2.56;DP=1172;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=19.68;ReadPosRankSum=0.300;SOR=0.689	GT:AD:DP:GQ:PL	0/1:93,65:158:99:1675,0,2212	18	1	2	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X,	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.025	29.7	5.16	2.565	7.445	19.019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	332.5	65	chr9	99218703	.	C	T	332.5	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.994e+00;DP=2231;ExcessHet=1.1607;FS=161.960;InbreedingCoeff=-0.1551;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=1.94;SOR=11.886	GT:AD:DP:GQ:PL	0/1:95,31:126:16:16,0,2101	15	0	5	1
chr9	104766374	104766374	A	G	exonic	NIPSNAP3B	.	nonsynonymous SNV	NIPSNAP3B:NM_018376:exon2:c.A110G:p.Y37C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.995	M	0.52	T	-0.392	T	0.347	T	0.862	2.020	12.71	2.79	0.673	6.656	8.193	0.482	0.035542097363	.	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs141665560	4.789e-06	4.788e-06	6.808e-06	2.751e-06	0.0001	1.99e-06	1.28e-06	5.851e-05	3.759e-05	0.0001	0	0	2.522e-05	0	0	0	1.656e-05	0	4.598e-05	4.593e-05	5.141e-05	4.03e-05	0.0002	2.108e-05	1.526e-05	6.269e-05	4.29e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.485	0.92608	M	0.52	0.55266	T	-8.21	0.96839	D	0.917	0.91968	-0.3923	0.72269	T	0.347	0.71194	T	10	0.94728124	0.94056	D	0.035542	0.56416	D	0.482	0.77206	0.764	0.89213	0.700102871335	0.69750	0.9052184040621467	0.90494	0.258188672319	0.28376	0.591320216656	0.51681	T	0.333384	0.70324	T	0.118137	0.66184	D	0.168588	0.81327	D	0.998286545276642	0.93725	D	0.972803	0.90184	D	0.9338277	0.94621	0.8962361	0.94709	0.9338277	0.94622	0.8962361	0.94709	-9.429	0.70417	D	.	.	0.249	0.48397	B	.	.	4.496469	0.70292	25.5	0.99663527215606984	0.78074	0.53688	0.29432	D	AEFGBCI	0.632073	0.61282	D	0.491525303593438	0.66594	4.970329	0.318316151744605	0.56616	3.825185	0.999942790740427	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.93	2.79	0.31792	7.155000	0.77033	7.951000	0.75833	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.626000	0.32052	0.9002:0.0:0.0998:0.0	8.193	0.30539	920	0.19381	NIPSNAP	.	.	.	.	.	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	1860.98	35	chr9	104766374	.	A	G	1860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.896;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=0.088;SOR=0.650	GT:AD:DP:GQ:PL	0/1:53,74:127:99:1875,0,1213	20	0	1	0
chr9	104840305	104840305	G	A	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon9:c.C1028T:p.A343V,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	0	1510	11	1	0	13	0.00428619	.	.	316106	ABCA1-related_disorder|Cardiovascular_phenotype|Hypoalphalipoproteinemia,_primary,_1|Tangier_disease|not_provided	MedGen:CN239173|MedGen:CN230736|MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425|MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.434	N	1.000	N	-0.255	N	-2.34	D	-0.764	T	0.342	T	0.037	1.416	10.67	2.93	1.148	2.121	11.631	0.191	0.0169071126842	0.0002	.	0.0008	0	0.0002	0	0	0.0003	0.0011	0.0047	0.0006727	104	154602	rs200030513	0.0005	0.0005	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	0	6.708e-05	3.826e-05	0	0	0.0012	0.0002	0.0004	0.0051	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.405e-05	0	0.0002	0	0	0.0002	0	0.0003	0	0.0044	0.376	0.11334	T	0.406	0.14725	T	0.0	0.02946	B	0.001	0.04355	B	0.434489	0.12707	N	0.768784	1	0.08975	N	-0.405	0.02972	N	-2.34	0.87989	D	-1.04	0.27259	N	0.04	0.01347	-0.7640	0.57187	T	0.342	0.70746	T	10	0.002936691	0.00047	T	0.016907	0.38384	T	0.191	0.46948	.	.	0.811903216846	0.81013	0.3203209681103329	0.31945	0.173858297058	0.19575	0.322019129992	0.13727	T	0.362975	0.72880	T	-0.525069	0.00411	T	-0.525911	0.19698	T	0.0103782995343705	0.00142	T	0.728627	0.34357	T	0.035530593	0.04199	0.060684662	0.11598	0.035530593	0.04199	0.060684662	0.11598	-3.39	0.14922	T	0.10225605493523307	0.07751	0.070	0.03336	B	.	.	1.559287	0.19974	14.53	0.97100531275698421	0.32366	0.22500	0.21767	N	AEFDBI	0.138024	0.25918	N	-0.585485417012778	0.19385	1.014112	-0.421100702019546	0.24378	1.334655	0.999992620855161	0.74766	0.562547	0.31514	0	0.627178	0.54094	0	0.608884	0.39905	0	0.616125	0.45549	0	.	.	5.19	2.93	0.33092	1.428000	0.34501	2.783000	0.34747	0.676000	0.76740	0.003000	0.16062	0.097000	0.22620	0.996000	0.76049	0.2257:0.0:0.7743:0.0	11.631	0.50432	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	0	0	1	0	0.02381	858.98	33	chr9	104840305	.	G	A	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=797;ExcessHet=0.0000;FS=3.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.442;SOR=1.175	GT:AD:DP:GQ:PL	0/1:38,32:70:99:873,0,972	20	0	1	0
chr9	105471961	105471961	G	T	exonic	FSD1L	.	nonsynonymous SNV	FSD1L:NM_001287191:exon4:c.G301T:p.A101S	.	.	538	958	24	2	0	28	0.0144033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.997	D	0.000	U	1.000	D	1.995	M	0.97	T	-0.714	T	0.187	T	0.573	4.244	22.1	4.94	2.425	6.455	17.286	0.191	.	0.0088	0.00319489	0.0081	0.0021	0	0	0.0080	0.0129	0.0121	0.0056	0.0025679	397	154602	rs117347201	0.0090	0.0086	0.0090	0.0091	0.0184	0.0089	0.0088	0.0155	0.0144	0.0017	0.0082	0.0179	3.636e-05	0.0079	0.0184	0.0094	0.0097	0.0056	0.0080	0.0080	0.0079	0.0082	0.0113	0.0076	0.0075	0.0102	0.0099	0.0019	0	0.0113	0.0185	0	0.0099	0.0213	0.0108	0.0117	0.0062	0.007	0.65419	D	0.033	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000015	0.62929	U	0.000000	0.874791	0.81001	D	2.505	0.72935	M	0.97	0.42502	T	-2.77	0.58733	D	0.597	0.68429	-0.7143	0.59741	T	0.187	0.53707	T	10	0.0049656928	0.00106	T	.	.	.	0.191	0.46948	.	.	0.526943034955	0.52341	0.36103982382109684	0.36017	.	.	0.682937860489	0.64690	T	0.039	0.29591	T	-0.343202	0.05169	T	-0.256367	0.49187	T	0.0154957271314856	0.00350	T	0.965903	0.88824	D	0.30125758	0.53017	0.33402807	0.59233	0.30125758	0.53017	0.33402807	0.59233	-6.333	0.59485	T	.	.	0.396	0.59353	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704761	0.75520	26.3	0.9960850462564681	0.74634	0.94107	0.60133	D	AEFBI	0.627507	0.60994	D	0.709707811512654	0.80268	7.257006	0.686248716511135	0.81334	7.502418	0.999965478769355	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.94	4.94	0.64645	6.915000	0.75593	11.662000	0.93998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.286	0.87029	960	0.08626	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	FKTN|FKTN|FKTN|FKTN|FKTN	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1019.98	42	chr9	105471961	.	G	T	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=-1.155e+00;SOR=0.667	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1034,0,864	20	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	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	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,54:199:79:0|1:106974250_T_C:79,0,3677:106974250	7	0	9	5
chr9	108855247	108855247	G	C	exonic	ACTL7B	.	nonsynonymous SNV	ACTL7B:NM_006686:exon1:c.C684G:p.D228E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.013	B	0.028	B	0.426	N	0.662	D	2.515	M	2.95	T	-1.088	T	0.039	T	0.145	2.063	12.86	1.67	0.165	1.841	8.835	0.206	0.0070476590342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	0.013	0.16609	B	0.028	0.21332	B	0.426163	0.12808	N	0.634333	0.66236	0.33064	D	2.59	0.75718	M	2.95	0.09635	T	-2.93	0.61284	D	0.157	0.16308	-1.0879	0.05890	T	0.039	0.16935	T	10	0.65959346	0.70075	D	0.007048	0.18676	T	0.206	0.49396	0.888	0.97226	0.467585353272	0.46384	0.6039263202283854	0.60323	0.380374659178	0.39407	0.487231433392	0.37055	T	0.73958	0.92776	D	-0.212165	0.19075	T	-0.542537	0.18048	T	0.889055371284485	0.53972	D	0.720928	0.33404	T	0.46728507	0.65123	0.5861266	0.75997	0.46728507	0.65124	0.5861266	0.75998	-5.941	0.45783	T	.	.	0.280	0.51288	B	.	.	2.860155	0.37787	20.6	0.98765920040145261	0.45893	0.91218	0.53092	D	AEFDBI	0.516769	0.54316	D	-0.219700959119365	0.32325	1.821864	-0.186219459555186	0.32042	1.819106	0.999276659442134	0.38974	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.63	1.67	0.23149	1.566000	0.36005	4.887000	0.45725	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	0.0:0.3053:0.5372:0.1575	8.835	0.34267	915	0.20917	.	.	.	.	.	.	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	2055.98	34	chr9	108855247	.	G	C	2055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.62;DP=953;ExcessHet=0.0000;FS=3.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-1.190e-01;SOR=0.783	GT:AD:DP:GQ:PL	0/1:94,80:174:99:2070,0,2242	20	0	1	0
chr9	112062980	112062980	G	A	exonic	SUSD1	.	nonsynonymous SNV	SUSD1:NM_001282640:exon13:c.C1807T:p.R603C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.736	P	0.270	N	0.903	D	1.32	L	1.61	T	-0.878	T	0.148	T	0.404	2.235	13.43	4.16	1.234	0.684	6.455	0.047	0.0342253869022	0.0006	.	0.0006	0.0005	0	0	0	0.0009	0.0011	0.0002	0.0005045	78	154602	rs141503818	0.0007	0.0007	0.0007	0.0006	0.0005	0.0006	0.0006	0.0004	0.0004	0.0003	0.0001	0.0141	0	0	0	0.0005	0.0011	3.479e-05	0.0005	0.0005	0.0005	0.0004	0.0002	0.0004	0.0003	0.0001	8.875e-05	0.0002	0	6.543e-05	0.0135	0.0002	0	0	0.0002	0.0005	0	0.038	0.42783	D	0.013	0.63109	D	0.995	0.67487	D	0.736	0.55529	P	0.270224	0.15142	N	0.553031	0.903449	0.36228	D	1.225	0.30651	L	0.61	0.53516	T	-2.17	0.49018	N	0.39	0.44570	-0.8780	0.49919	T	0.148	0.47380	T	10	0.0100227	0.00224	T	0.034225	0.55532	D	0.127	0.34888	.	.	0.565829876908	0.56246	0.6070603460225796	0.60637	0.637688771769	0.57507	0.275810837746	0.06915	T	0.049097	0.28208	T	-0.330251	0.06092	T	-0.369428	0.36955	T	0.0156937659004222	0.00362	T	0.922708	0.74042	D	0.088368855	0.20612	0.06985978	0.14771	0.088368855	0.20612	0.06985978	0.14770	-10.592	0.78437	D	.	.	0.144	0.31683	B	.;.;.	.;.;.	3.028714	0.40563	21.2	0.99871067100064947	0.94902	0.10779	0.16186	N	AEFBI	0.106590	0.21262	N	-0.271468543997565	0.30254	1.685265	-0.326920716654323	0.27233	1.509662	0.999964688538345	0.48965	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.07	4.16	0.48138	0.702000	0.25307	3.349000	0.37769	0.676000	0.76740	0.017000	0.19353	0.999000	0.35428	0.080000	0.17246	0.0972:0.0:0.7208:0.182	6.455	0.21124	774	0.48577	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	963.98	36	chr9	112062980	.	G	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.660e-01;DP=790;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=2.02;SOR=0.577	GT:AD:DP:GQ:PL	0/1:46,45:91:99:978,0,1032	20	0	1	0
chr9	114028804	114028804	C	A	exonic	ZNF618	.	nonsynonymous SNV	ZNF618:NM_001318040:exon10:c.C820A:p.P274T	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.596	P	0.05	B	0.031	N	1.000	D	.	.	2.33	T	-1.056	T	0.029	T	0.367	0.933	8.800	5.61	2.647	2.385	16.778	0.043	0.0116686669378	.	.	0.0005	0	0	0	0	0.0010	0	0.0004	6.47e-05	10	154602	rs759571727	0.0004	0.0004	0.0004	0.0004	0.0105	0.0004	0.0004	0.0084	0.0076	0.0002	0.0011	0.0009	0	0	0.0105	0.0003	0.0008	0.0004	0.0003	0.0003	0.0003	0.0002	0.0011	0.0002	0.0002	0.0007	0.0006	2.406e-05	0	0.0011	0.0003	0	0	0.0102	0.0002	0.0024	0.0002	0.489	0.91255	T	0.573	0.09022	T	0.18	0.39217	B	0.021	0.25278	B	0.031188	0.25203	N	0.360202	1	0.81001	D	0	0.06538	N	2.33	0.16492	T	-0.78	0.21644	N	0.145	0.20793	-1.0558	0.12829	T	0.029	0.12453	T	9	0.03348905	0.01527	T	0.011669	0.29526	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.4546271130240853	0.45380	.	.	.	.	.	0.023042	0.17656	T	-0.42671	0.01552	T	-0.447709	0.27950	T	0.0256903383677831	0.01365	T	0.908709	0.68064	D	0.06480757	0.13787	0.0733478	0.15927	0.06480757	0.13786	0.0733478	0.15927	-3.98	0.24757	T	.	.	0.064	0.02370	B	.;.;.	.;.;.	2.286599	0.29245	18.06	0.56517232437688913	0.05569	0.90972	0.52612	D	AEFDBI	0.309249	0.41560	N	0.0669011810805397	0.44922	2.75769	0.226154501635002	0.51304	3.314032	0.999999840458036	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	2.442000	0.44531	3.337000	0.37675	-0.188000	0.09543	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	16.778	0.85418	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	1270.98	33	chr9	114028804	.	C	A	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.700e-02;DP=887;ExcessHet=0.0000;FS=3.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.731;SOR=0.455	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1285,0,1730	20	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:175,26:203:99:.:.:130,0,6435	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:172,24:201:99:.:.:199,0,6371	9	0	10	2
chr9	121162267	121162267	A	C	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon23:c.A3763C:p.K1255Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.11	B	0.021	B	.	.	1.000	N	1.5	L	1.54	T	-1.014	T	0.071	T	0.201	2.518	14.38	4.73	1.023	3.495	12.742	0.062	0.0110820775475	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779439870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.285	0.15251	T	0.249	0.23776	T	0.11	0.26188	B	0.021	0.19346	B	.	.	.	.	0.989632	0.24272	N	2.3	0.65703	M	1.54	0.36512	T	-0.17	0.20358	N	0.31	0.34981	-1.0137	0.25752	T	0.071	0.29066	T	9	0.09545648	0.17050	T	0.011082	0.28332	T	0.062	0.17934	0.109	0.01988	0.213573922156	0.20996	0.11214659497539571	0.11143	0.0677330139699	0.07574	0.352946281433	0.18354	T	0.011579	0.10309	T	-0.179702	0.23780	T	-0.495906	0.22773	T	0.270040819276287	0.23749	T	0.807119	0.45664	T	0.102846965	0.24306	0.069400564	0.14618	0.102846965	0.24306	0.069400564	0.14618	-3.244	0.13026	T	.	.	0.123	0.25914	B	.;.;.	.;.;.	2.580144	0.33455	19.34	0.97926195739583355	0.36921	0.92705	0.56344	D	AEFGBI	0.373829	0.45896	N	-0.243637403772068	0.31357	1.757491	-0.0629502897040475	0.36936	2.155953	0.999620873639164	0.41093	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.89	4.73	0.59485	3.528000	0.53279	5.351000	0.48373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8632:0.1368:0.0:0.0	12.742	0.56633	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	0	0	0	0	0	0	0	0.02381	617.98	34	chr9	121162267	.	A	C	617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=662;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=1.41;SOR=0.931	GT:AD:DP:GQ:PL	0/1:17,23:40:99:632,0,412	20	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A,	.	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,44:320:99:0|1:122724732_T_C:959,0,11257:122724732	2	0	12	7
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A,	.	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,34:298:99:0|1:122724732_T_C:633,0,10970:122724732	5	0	12	4
chr9	127444925	127444925	A	G	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286698:exon3:c.A823G:p.K275E	.	.	321	1200	1	0	0	1	0.000416493	.	.	2369386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.975	D	0.819	P	.	.	0.567	D	1.595	L	1.85	T	-0.847	T	0.101	T	0.375	3.570	18.19	3.74	1.574	0.204	10.478	0.103	0.00685241169902	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs759721493	2.873e-05	2.873e-05	2.859e-05	2.888e-05	0.0042	2.151e-05	1.908e-05	0.0029	0.0024	8.961e-05	0	0	0	0	0.0042	1.079e-05	4.967e-05	0	8.544e-05	8.534e-05	5.146e-05	0.0001	0.0001	4.959e-05	3.964e-05	2.261e-05	9.07e-06	2.409e-05	0	0.0001	0	0	0	0.0306	0	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	0.975	0.58077	D	0.819	0.59018	P	.	.	.	.	0.56659	0.32258	D	1.085	0.27262	L	1.85	0.24472	T	-2.46	0.53736	N	0.263	0.29774	-0.8470	0.52175	T	0.101	0.37366	T	9	0.15446424	0.29135	T	0.006852	0.18121	T	0.103	0.29403	.	.	0.51469891142	0.51112	0.018518818931085142	0.01805	0.510821598874	0.49180	0.660697817802	0.61509	T	0.118597	0.62522	T	-0.146618	0.28842	T	-0.432897	0.29606	T	0.636707656972875	0.37898	D	0.39886	0.19511	T	0.516231	0.68042	0.46167362	0.68740	0.516231	0.68043	0.46167362	0.68741	-9.335	0.69827	D	.	.	0.595	0.79385	P	.;.;.;.	.;.;.;.	3.665557	0.52099	23.2	0.99822181640024499	0.90502	0.42449	0.26880	N	AEFDGBHCI	0.173602	0.30069	N	0.14083202498214	0.48377	3.050842	0.0458040667013462	0.41869	2.522704	0.999999998571028	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.465395	0.07113	1	0.636168	0.56350	0	.	.	3.74	3.74	0.42108	0.125000	0.15577	5.562000	0.48920	0.658000	0.54486	0.000000	0.06391	0.523000	0.25320	0.960000	0.51673	1.0:0.0:0.0:0.0	10.478	0.43862	510	0.75209	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	0	0	0	0	0.02381	1095.98	37	chr9	127444925	.	A	G	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.870e-01;DP=896;ExcessHet=0.0000;FS=1.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=-1.332e+00;SOR=0.883	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1110,0,1675	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	0/1:49,25,2:76:99:.:.:534,0,1525,500,1197,1737	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	0/1:54,25:79:99:.:.:321,0,1575	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	0/1:54,24:78:99:.:.:189,0,1255	12	0	9	0
chr9	128101182	128101182	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G348C:p.K116N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.881	P	0.593	P	0.000	D	1.000	D	2.355	M	0.89	T	-0.234	T	0.486	T	0.226	1.878	12.24	-1.27	-0.511	-0.489	13.159	0.278	0.115383419939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.17468	T	0.305	0.20486	T	0.881	0.48446	P	0.593	0.50536	P	0.000000	0.84330	D	0.087699	0.999999	0.81001	D	2.34	0.67151	M	0.89	0.80387	T	-2.66	0.59710	D	0.487	0.55886	-0.2337	0.76790	T	0.486	0.80441	T	10	0.16160071	0.30308	T	0.115383	0.79455	D	0.278	0.59497	0.591	0.71999	0.171220215726	0.16700	0.6806528368207055	0.68004	0.713815710114	0.61846	0.838614344597	0.87883	D	0.305529	0.67778	T	-0.0597631	0.42946	T	-0.323622	0.42176	T	0.529833555221558	0.33728	D	0.947505	0.80370	D	0.42320445	0.62304	0.32403204	0.58331	0.42320445	0.62305	0.32403204	0.58330	-7.747	0.73540	D	.	.	0.558	0.77574	A	.;.;.;.;.	.;.;.;.;.	1.452777	0.18743	13.90	0.98597571278657536	0.43454	0.27556	0.23311	N	AEFGBI	0.195335	0.32238	N	-0.694203406124448	0.16186	0.8224066	-0.713057584978373	0.16636	0.8809873	0.999932680091442	0.46732	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	-1.27	0.08863	-0.472000	0.06702	-0.668000	0.07948	-0.046000	0.17342	0.037000	0.20830	0.000000	0.08366	0.998000	0.85391	0.3502:0.0:0.6498:0.0	13.159	0.58953	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	77.14	127	chr9	128101182	.	G	C	77.14	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.161e+00;DP=1237;ExcessHet=0.6776;FS=115.371;InbreedingCoeff=-0.0994;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.18;ReadPosRankSum=1.27;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,16:112:27:0|1:128101182_G_C:27,0,3536:128101182	17	0	4	0
chr9	128101187	128101187	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G353C:p.R118T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.572	P	0.000	D	1.000	D	2.065	M	-0.7	T	-0.438	T	0.380	T	0.804	2.016	12.70	5.33	2.487	4.398	18.009	0.416	0.0420021043119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.19225	T	0.369	0.16522	T	0.868	0.47740	P	0.572	0.49931	P	0.000000	0.84330	D	0.041945	0.999998	0.81001	D	2.215	0.62545	M	-0.7	0.72785	T	-2.41	0.54546	N	0.667	0.67736	-0.4377	0.70807	T	0.380	0.73692	T	10	0.5000973	0.61497	D	0.042002	0.60234	D	0.416	0.72631	0.61	0.74300	0.200294437569	0.19612	0.8142011479369076	0.81376	0.978056266541	0.73627	0.778474271297	0.78698	T	0.436539	0.78289	T	0.186908	0.72678	D	0.0307039	0.72323	D	0.797435283660889	0.46180	D	0.844516	0.79334	T	0.4251696	0.62434	0.347225	0.60379	0.4251696	0.62435	0.347225	0.60379	-8.202	0.67762	D	.	.	0.415	0.76696	A	.;.;.;.;.	.;.;.;.;.	4.561538	0.71881	25.7	0.93999598795195805	0.24094	0.96966	0.71921	D	AEFGBI	0.764155	0.70104	D	0.177338735965513	0.50112	3.204398	0.295564956828609	0.55281	3.691184	0.999999882866597	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	5.33	0.75683	4.489000	0.60035	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.009	0.89140	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	139.95	128	chr9	128101187	.	G	C	139.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.915e+00;DP=1519;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.933;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:21:0|1:128101182_G_C:21,0,3637:128101182	17	0	4	0
chr9	128101188	128101188	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G354C:p.R118S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.494	P	0.000	D	1.000	D	2.41	M	-0.72	T	-0.592	T	0.312	T	0.766	2.552	14.49	2.45	1.235	0.510	8.422	0.565	0.0635115361609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0037	0.0001	0.0001	0.0002	9.968e-05	9.425e-05	0.0001	0.0001	0.0002	0	0	2.538e-05	0	0	0.0001	5.152e-05	5.882e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.23007	T	0.36	0.17014	T	0.868	0.47740	P	0.494	0.47478	P	0.000000	0.84330	D	0.041945	1	0.81001	D	2.27	0.64531	M	-0.72	0.72994	T	-2.2	0.50502	N	0.592	0.61172	-0.5924	0.65125	T	0.312	0.68220	T	10	0.42217892	0.56938	T	0.063512	0.68991	D	0.565	0.82232	0.611	0.74418	0.266724437049	0.26276	0.8208935264102138	0.82046	1.10394199327	0.77820	0.748741447926	0.74261	T	0.421327	0.77275	T	0.148143	0.69094	D	-0.02498	0.68702	D	0.774935901165009	0.44738	D	0.959804	0.85511	D	0.35418284	0.57390	0.3380839	0.59591	0.35418284	0.57391	0.3380839	0.59590	-7.65	0.62296	D	.	.	0.623	0.82606	P	.;.;.;.;.	.;.;.;.;.	3.414575	0.47383	22.4	0.99085328864255551	0.52075	0.94030	0.59902	D	AEFGBI	0.643967	0.62039	D	0.0999592402221534	0.46460	2.886059	0.114203922356772	0.45274	2.793509	0.999955091771372	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	2.45	0.28953	0.535000	0.22822	2.384000	0.32503	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.3583:0.0:0.6417:0.0	8.422	0.31866	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	144.95	126	chr9	128101188	.	G	C	144.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.017e+00;DP=1773;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1059;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=0.925;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,16:113:23:0|1:128101182_G_C:23,0,3630:128101182	17	0	4	0
chr9	130307548	130307548	C	T	exonic	HMCN2	.	stopgain	HMCN2:NM_001291815:exon14:c.C2182T:p.R728X,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.491	24.1	3.39	1.215	2.016	12.468	.	.	.	.	6.455e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs782426971	1.882e-05	1.113e-05	1.442e-05	2.22e-05	0.0004	7.76e-06	5.44e-06	0.0001	8.852e-05	0.0001	0	0	0.0004	0	0	0	0	1.674e-05	3.287e-05	3.284e-05	1.285e-05	5.384e-05	0.0002	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.30461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390246	0.89341	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.600314	0.96679	36	0.99425567246888447	0.63984	0.93322	0.57907	D	AEFDGBI	0.161385	0.28744	N	0.424004974475102	0.62746	4.495568	0.220766053306165	0.51001	3.286513	0.99918967430228	0.38681	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.32	3.39	0.37919	2.094000	0.41344	1.723000	0.28273	-0.223000	0.07921	0.999000	0.42656	0.985000	0.30750	0.166000	0.20848	0.302:0.698:0.0:0.0	12.468	0.55110	588	0.69043	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	1292.98	33	chr9	130307548	.	C	T	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.876;DP=805;ExcessHet=0.0000;FS=1.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-6.220e-01;SOR=0.546	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1307,0,1299	20	0	1	0
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K,	.	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2533.11	35	chr9	130354885	.	G	A	2533.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.37;DP=929;ExcessHet=0.1072;FS=5.191;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.47;ReadPosRankSum=0.853;SOR=0.621	GT:AD:DP:GQ:PL	0/1:76,60:136:99:1344,0,1686	19	0	2	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	1/1:0,129,0:129:99:3736,387,0,3736,387,3736	0	17	3	0
chr9	135694417	135694417	G	T	exonic	SOHLH1	.	nonsynonymous SNV	SOHLH1:NM_001012415:exon7:c.C916A:p.L306M	.	.	418	1076	28	0	0	28	0.012844	.	.	700885	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.022	N	0.964	N	1.1	L	1.12	T	-1.019	T	0.115	T	0.385	3.377	17.39	3.17	1.069	0.843	8.015	0.205	.	0.0024	0.00439297	0.0040	0.0004	0.0018	0	0.0002	0.0033	0.0080	0.0142	0.0037968	587	154602	rs144035874	0.0040	0.0040	0.0036	0.0045	0.0143	0.0040	0.0039	0.0136	0.0133	0.0003	0.0025	0.0055	2.519e-05	0.0002	0.0078	0.0037	0.0043	0.0143	0.0028	0.0028	0.0027	0.0029	0.0133	0.0026	0.0025	0.0107	0.0097	0.0007	0	0.0026	0.0055	0.0002	9.416e-05	0.0034	0.0039	0.0033	0.0133	0.0	0.91255	D	0.02	0.59159	D	1.0	0.90584	D	0.974	0.77976	D	0.022308	0.26659	N	0.000000	0.963867	0.26006	N	1.905	0.50856	L	1.12	0.43672	T	-0.65	0.20791	N	0.299	0.45237	-1.0194	0.23910	T	0.115	0.40897	T	10	0.00800392	0.00182	T	.	.	.	0.205	0.49236	.	.	0.769224809604	0.76711	0.024377375038672506	0.02388	0.240467876749	0.26590	0.600934326649	0.53037	T	0.170494	0.51826	T	-0.439306	0.01305	T	-0.392132	0.34301	T	0.0480363027054846	0.05149	T	0.375462	0.10029	T	0.14672273	0.33574	0.12945314	0.31125	0.1755579	0.38421	0.12844017	0.30900	-6.666	0.51690	T	.	.	0.286	0.53293	B	.;.	.;.	1.888798	0.23993	16.23	0.99024227393760655	0.50655	0.24659	0.22462	N	AEFDBI	0.044883	0.07275	N	-0.149903679894684	0.35239	2.021542	-0.339853883871407	0.26825	1.484233	0.982373399511602	0.30390	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.08	3.17	0.35510	1.107000	0.30724	2.782000	0.34741	0.650000	0.52971	0.009000	0.18154	0.985000	0.30750	0.007000	0.07825	0.1145:0.0:0.8855:0.0	8.015	0.29539	673	0.60677	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1091.98	87	chr9	135694417	.	G	T	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.069e+00;DP=2054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.64;ReadPosRankSum=-6.810e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:90,53:143:99:1106,0,2274	20	0	1	0
chr9	135786345	135786345	G	A	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon28:c.G3191A:p.S1064N	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	.	10	1511	1	0	0	1	0.000330797	.	.	638028	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|KCNT1-related_disorder	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.954	P	0.694	P	0.000	U	1.000	D	2.42	M	1.25	T	-0.663	T	0.184	T	0.125	3.923	19.96	4.75	2.189	8.991	17.738	0.242	0.407244103784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	U	0.047110	0.999999	0.81001	D	2.34	0.67151	M	1.22	0.37052	T	-1.13	0.29114	N	0.714	0.72925	-0.6626	0.62161	T	0.184	0.53285	T	10	0.5922874	0.66448	D	0.407244	0.93523	D	0.242	0.54781	.	.	0.546607571196	0.54314	0.6712071603430122	0.67058	0.314388065914	0.33721	0.732887625694	0.71928	T	0.060435	0.31385	T	-0.132014	0.31171	T	-0.427406	0.30230	T	0.96179461479187	0.66183	D	0.985401	0.94968	D	0.46769384	0.65148	0.35119867	0.60718	0.46769384	0.65149	0.35119867	0.60717	-9.253	0.69972	D	0.5778356808349089	0.64474	0.635	0.71705	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.572477	0.72161	25.8	0.99463705762829868	0.65944	0.99580	0.97658	D	AEFDBHI	0.941123	0.94398	D	0.464808296424267	0.65049	4.773716	0.436872408708265	0.63878	4.630607	0.999999999987036	0.74766	0.648878	0.45929	0	0.547309	0.14657	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.75	4.75	0.59954	9.181000	0.94000	11.273000	0.91473	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:1.0:0.0	17.738	0.88307	536	0.73233	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	365.98	46	chr9	135786345	.	G	A	365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.780e-01;DP=769;ExcessHet=0.0000;FS=6.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.491;SOR=1.447	GT:AD:DP:GQ:PL	0/1:34,18:52:99:380,0,972	20	0	1	0
chr9	136383314	136383314	C	T	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon15:c.G1855A:p.A619T,	.	.	403	1115	4	0	0	4	0.00179051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.112	N	1.000	N	-0.69	N	1.86	T	-1.026	T	0.017	T	0.046	0.421	6.285	-6.84	-0.816	-1.546	1.908	0.002	0.0128856888658	.	0.000599042	0.0006	0.0003	0	0.0077	0	0	0	6.725e-05	0.0004851	75	154602	rs199943004	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0037	0.0035	0.0001	4.481e-05	0	0.0043	0	0	1.439e-05	0.0016	0.0002	0.0003	0.0003	0.0004	0.0002	0.0052	0.0002	0.0002	0.0037	0.0032	0.0001	0	0.0008	0	0.0052	0	0	0	0.0009	0	0.288	0.15098	T	0.735	0.05072	T	0.0	0.02946	B	0.0	0.01387	B	0.111842	0.02647	N	2.786960	1	0.08975	N	-0.69	0.01958	N	1.86	0.24285	T	-0.29	0.11728	N	0.055	0.02658	-1.0261	0.21723	T	0.017	0.07187	T	10	0.0041803718	0.00083	T	0.012886	0.31852	T	0.002	0.00045	.	.	0.0611884634855	0.05136	0.14036940744863685	0.13959	.	.	0.287539541721	0.08565	T	0.002336	0.01729	T	-0.714488	0.00030	T	-0.795643	0.02014	T	0.00322637601250734	0.00034	T	0.265873	0.04359	T	0.03368395	0.03636	0.0393055	0.03994	0.03368395	0.03635	0.0393055	0.03994	-4.455	0.30296	T	.	.	0.075	0.05491	B	.	.	-0.511313	0.01831	0.145	0.72699309760244069	0.10064	0.03684	0.08955	N	AEFGBCI	0.024420	0.01510	N	-1.94202497761331	0.00281	0.01204706	-1.96334582358417	0.00365	0.01612821	0.986425288240283	0.31061	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.29	-6.84	0.01527	-2.092000	0.01442	-0.830000	0.07259	-1.199000	0.01364	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2275:0.3476:0.296:0.1289	1.908	0.03081	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1044.98	36	chr9	136383314	.	C	T	1044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=791;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=1.28;SOR=0.475	GT:AD:DP:GQ:PL	0/1:27,39:66:99:1059,0,647	20	0	1	0
chr9	137216297	137216297	G	A	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon14:c.G1702A:p.V568I	.	.	414	1097	11	0	0	11	0.00498866	.	.	2379735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.97	D	0.764	P	0.000	N	0.508	D	.	.	-1.62	D	0.070	D	0.543	D	0.146	2.037	12.77	1.02	0.029	1.837	7.426	0.323	0.19990525706	0.0004	.	0.0004	0.0003	0	0	0	0.0007	0.0011	6.06e-05	0.0003428	53	154602	rs138917451	0.0003	0.0003	0.0003	0.0003	0.0057	0.0003	0.0002	0.0042	0.0037	0.0003	0.0001	0.0046	0	0	0.0057	0.0002	0.0009	9.275e-05	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0002	0.0002	0.0002	0	0.0004	0.0049	0	0	0.0102	0.0003	0.0019	0.0004	0.031	0.45039	D	0.0	0.92824	D	0.97	0.56973	D	0.652	0.56591	P	0.000126	0.49741	N	0.133677	0.508252	0.31798	D	.	.	.	-1.62	0.82347	D	-0.81	0.22294	N	0.163	0.26837	0.070	0.83609	D	0.543	0.83156	D	9	0.023507833	0.00617	T	0.199905	0.86678	D	0.323	0.64522	.	.	0.845724468965	0.84424	0.5270060314101321	0.52624	0.443225284467	0.44258	0.421189934015	0.28000	T	0.170304	0.51800	T	-0.278265	0.10851	T	-0.307484	0.43928	T	0.0465635372940066	0.04886	T	0.712529	0.32403	T	0.04705268	0.07978	0.05465569	0.09440	0.04705268	0.07978	0.05465569	0.09439	-7.014	0.55020	T	.	.	0.138	0.30211	B	.;.;.	.;.;.	3.563393	0.50150	22.9	0.9895815227231648	0.49266	0.73817	0.36106	D	AEFGBI	0.067775	0.13338	N	-0.332271344065268	0.27929	1.536312	-0.501557008566777	0.22112	1.199365	0.999943748054974	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	1.02	0.19102	4.372000	0.59300	6.548000	0.55903	-0.113000	0.14837	0.993000	0.37899	1.000000	0.68203	0.024000	0.12247	0.2948:0.0:0.7052:0.0	7.426	0.26275	988	0.01987	.;.;Oxidoreductase FAD/NAD(P)-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	0.02381	1214.98	41	chr9	137216297	.	G	A	1214.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.427;DP=925;ExcessHet=0.0000;FS=1.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.418e+00;SOR=0.968	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1229,0,1175	20	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:105,52:157:99:304,0,1550	5	0	16	0
chr10	7576593	7576593	C	T	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon6:c.G1196A:p.R399H	.	.	429	1074	19	0	0	19	0.00876788	.	.	724067	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.025	N	1.000	N	.	.	1.59	T	-0.980	T	0.027	T	0.112	-0.651	1.134	-2.14	-0.629	1.154	11.537	0.061	0.00277705274274	0.0025	0.00119808	0.0024	0.0006	0.0009	0	0.0015	0.0032	0.0011	0.0030	0.0023027	356	154602	rs148811531	0.0025	0.0025	0.0025	0.0025	0.0071	0.0024	0.0024	0.0054	0.0048	0.0010	0.0015	0.0044	0	0.0019	0.0071	0.0026	0.0025	0.0030	0.0020	0.0020	0.0020	0.0021	0.0026	0.0019	0.0018	0.0023	0.0022	0.0008	0	0.0024	0.0055	0	0.0024	0.0034	0.0026	0.0047	0.0021	0.749	0.04864	T	0.778	0.07444	T	0.0	0.02946	B	0.0	0.01387	B	0.025196	0.26132	N	0.466802	1	0.08975	N	.	.	.	1.59	0.28836	T	1.8	0.00513	N	0.055	0.03283	-0.9800	0.35002	T	0.027	0.11663	T	9	0.010210663	0.00228	T	0.002777	0.05781	T	0.061	0.17616	.	.	0.0551355673512	0.04727	0.37570074253142405	0.37484	.	.	0.206901490688	0.00687	T	0.003161	0.02566	T	-0.64418	0.00079	T	-0.700518	0.05797	T	0.000670027541734186	0.00006	T	0.786621	0.43457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01577	B	.;.;.	.;.;.	0.111307	0.05106	1.638	0.46584350116879147	0.03742	0.08431	0.14361	N	AEFDBI	0.150150	0.27438	N	-1.16588580509595	0.05523	0.2520297	-1.16274024222796	0.06541	0.3152244	0.773206773292317	0.23708	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.2	-2.14	0.06725	1.149000	0.31238	-2.371000	0.03838	-0.850000	0.02721	0.976000	0.34826	0.000000	0.08366	0.004000	0.06068	0.0:0.1385:0.0:0.8615	11.537	0.49894	975	0.05339	.;.;.	.	.	.	.	.	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	2760.11	43	chr10	7576593	.	C	T	2760.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.040e-01;DP=1225;ExcessHet=0.1072;FS=0.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-1.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1522,0,1322	19	0	2	0
chr10	19352231	19352231	C	-	exonic	MALRD1	.	frameshift deletion	MALRD1:NM_001142308:exon26:c.4375delC:p.T1460Qfs*46,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0009	0	0.0070	0.0082	0	0	0	0.0012	0.0002652	41	154602	rs531574019	0.0007	0.0007	0.0007	0.0007	0.0123	0.0007	0.0006	0.0114	0.0110	0	0.0085	0	0.0123	0	0.0002	7.786e-05	0.0012	0.0010	0.0010	0.0010	0.0010	0.0010	0.0095	0.0009	0.0008	0.0074	0.0066	0.0002	0	0.0051	0	0.0095	0	0	1.47e-05	0.0019	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1896.94	39	chr10	19352230	.	GC	G	1896.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.114e+00;DP=921;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.07;ReadPosRankSum=0.138;SOR=0.487	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1911,0,1652	20	0	1	0
chr10	31524036	31524036	G	A	exonic	ZEB1	.	nonsynonymous SNV	ZEB1:NM_001323674:exon6:c.G2483A:p.G828E	Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.140	N	1.000	D	2.08	M	3.19	T	-1.173	T	0.079	T	0.955	5.226	33	5.72	2.715	9.869	19.869	0.510	0.00252136342492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.139856	0.18329	N	0.529456	1	0.81001	D	1.995	0.54099	M	3.19	0.07353	T	-6.71	0.92518	D	0.855	0.85660	-1.1731	0.00482	T	0.079	0.31284	T	10	0.77007186	0.77011	D	0.002521	0.05037	T	0.510	0.78971	0.384	0.40298	0.495690748178	0.49203	0.4383833791546144	0.43755	0.654802155961	0.58547	0.918305635452	0.98192	D	0.707743	0.91639	D	0.23338	0.77038	D	0.0974581	0.76739	D	0.982451021671295	0.74501	D	0.965303	0.87188	D	0.78569436	0.83005	0.8155677	0.89255	0.78569436	0.83007	0.8155677	0.89256	-14.54	0.95020	D	0.8379555726232712	0.90716	0.984	0.93824	P	.;.;.;.;.	.;.;.;.;.	5.562324	0.92146	32	0.99804362439802696	0.88906	0.99604	0.97902	D	AEFBI	0.904626	0.85515	D	0.913470321719469	0.92404	11.40374	0.909363823547343	0.95968	14.15846	0.999999999998436	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	10.003000	0.99689	11.932000	0.99936	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.869	0.96838	796	0.45353	.;.;.;.;.	.	.	.	.	.	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	1262.98	33	chr10	31524036	.	G	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.927;DP=807;ExcessHet=0.0000;FS=1.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=1.44;SOR=0.931	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1277,0,1047	20	0	1	0
chr10	47922569	47922569	C	G	exonic	NPY4R;NPY4R2	.	nonsynonymous SNV	NPY4R:NM_001278794:exon2:c.C582G:p.F194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs555251274	2.436e-05	3.173e-05	1.223e-05	3.641e-05	0.0003	1.689e-05	1.454e-05	0.0002	0.0002	0	0	0	0	0	0	8.052e-06	2.018e-05	0.0003	1.515e-05	1.332e-05	1.458e-05	1.576e-05	0.0006	2.52e-06	9.4e-07	0.0001	4.449e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.000642	0.42656	D	0.246292	0.993942	0.23618	N	.	.	.	.	.	.	.	.	.	.	.	-1.0493	0.14593	T	0.055	0.23262	T	10	0.030801922	0.01209	T	0.00528	0.13494	T	.	.	0.328	0.31196	.	.	0.3235128460203074	0.32264	.	.	0.516212105751	0.41093	T	.	.	.	.	.	.	.	.	.	.	.	.	0.561144	0.19645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.75635	P	.;.	.;.	1.279009	0.16785	12.76	0.87577477377801016	0.17328	0.34925	0.25182	N	AEFDBCI	.	.	.	-0.738098937777188	0.14958	0.7496818	-0.655326702754204	0.18082	0.9644082	0.999948946888643	0.47345	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.79	1.06	0.19341	0.953000	0.28759	-0.082000	0.12165	0.298000	0.18894	0.401000	0.26178	0.856000	0.27440	0.920000	0.45560	0.1496:0.2385:0.0:0.6118	3.911	0.08707	988	0.01987	.;.	.	.	.	.	.	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	1037.98	35	chr10	47922569	.	C	G	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.72;DP=868;ExcessHet=0.0000;FS=3.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.68;MQRankSum=0.740;QD=8.05;ReadPosRankSum=1.34;SOR=1.355	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,46:129:99:0|1:47922569_C_G:1052,0,2539:47922569	20	0	1	0
chr10	48970201	48970201	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_020945:exon57:c.C8840T:p.T2947M,	.	.	412	1097	13	0	0	13	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	B	0.104	B	0.920	N	1.000	N	0.385	N	1.58	T	-1.037	T	0.013	T	0.406	-0.763	0.779	-10.9	-2.700	-1.589	15.648	0.070	.	0.0046	0.00858626	0.0070	0.0005	0.0025	0.0177	0.0347	0.0085	0.0049	0.0042	0.0023544	364	154602	rs41283303	0.0078	0.0075	0.0078	0.0079	0.0314	0.0077	0.0076	0.0299	0.0293	0.0012	0.0025	0.0012	0.0314	0.0228	0.0019	0.0072	0.0067	0.0041	0.0068	0.0068	0.0063	0.0073	0.0293	0.0064	0.0063	0.0255	0.0241	0.0012	0.0186	0.0018	0.0006	0.0293	0.0190	0	0.0081	0.0057	0.0044	0.469	0.08508	T	0.448	0.13030	T	0.106	0.26037	B	0.022	0.19653	B	0.919896	0.07470	N	1.037450	1	0.08975	N	0.49	0.13296	N	1.58	0.29085	T	-0.12	0.08809	N	0.156	0.16168	-1.0366	0.18357	T	0.013	0.04843	T	9	0.0039949715	0.00077	T	.	.	.	0.070	0.20419	.	.	0.0297737177859	0.01360	0.38725607263372386	0.38640	.	.	0.250243425369	0.03793	T	0.009171	0.08364	T	-0.553891	0.00276	T	-0.551483	0.17184	T	0.0109182422497646	0.00157	T	0.137586	0.01095	T	0.010457726	0.00008	0.023117611	0.00327	0.010457726	0.00008	0.023117611	0.00327	-4.054	0.24609	T	.	.	0.056	0.00496	B	.	.	-1.350813	0.00397	0.008	0.27631161462880305	0.01381	0.03422	0.08551	N	AEFDBCI	0.063476	0.12268	N	-2.04379646653779	0.00170	0.007286304	-2.16560268350352	0.00133	0.005872333	0.995641359668847	0.34242	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.45	-10.9	0.00151	-1.536000	0.02312	-4.302000	0.02229	-2.883000	0.00166	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0883:0.66:0.0:0.2517	15.648	0.76822	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2949.11	35	chr10	48970201	.	C	T	2949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=943;ExcessHet=0.1072;FS=2.034;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=2.20;SOR=0.820	GT:AD:DP:GQ:PL	0/1:78,56:134:99:1258,0,1775	19	0	2	0
chr10	49612016	49612016	A	G	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.A1276G:p.I426V,	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	737509	SLC18A3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.977	D	0.773	P	0.000	U	1.000	D	0.695	N	-1.39	T	-0.451	T	0.316	T	0.296	1.787	11.93	3.98	1.928	6.326	10.223	0.418	0.0154850367642	0.0002	0.00139776	0.0006	9.781e-05	8.706e-05	0.0066	0	9.122e-05	0	0.0006	0.0005369	83	154602	rs118107581	0.0005	0.0005	0.0005	0.0005	0.0140	0.0005	0.0004	0.0130	0.0126	5.974e-05	0.0001	0	0.0140	0	0.0003	5.846e-05	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	0.0002	0	0.0001	0	0.0052	0	0	5.881e-05	0.0005	0.0004	0.38	0.11191	T	0.779	0.04344	T	0.977	0.58535	D	0.773	0.56974	P	0.000003	0.62929	U	0.059041	1	0.81001	D	0.58	0.15352	N	-1.39	0.80387	T	-0.88	0.23808	N	0.304	0.34336	-0.4506	0.70380	T	0.316	0.68549	T	10	0.013012946	0.00277	T	0.015485	0.36250	T	0.418	0.72780	.	.	0.708386449469	0.70584	0.1755959752554341	0.17478	.	.	0.818039059639	0.84727	D	0.220522	0.58383	T	-0.323961	0.06578	T	-0.235789	0.51209	T	0.0822728689954696	0.10276	T	0.889211	0.62120	D	0.1075223	0.25424	0.121147536	0.29233	0.1075223	0.25423	0.121147536	0.29232	-2.874	0.08886	T	0.2757724791787665	0.37023	0.190	0.40873	B	.	.	4.642279	0.73915	26.1	0.982130852565681	0.39228	0.96335	0.68636	D	AEFDGBCI	0.871742	0.79328	D	0.389166261111909	0.60836	4.276887	0.427257964528688	0.63268	4.557327	0.999994218134128	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.11	3.98	0.45383	7.477000	0.80071	9.324000	0.80071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9218:0.0:0.0782:0.0	10.223	0.42386	602	0.67834	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1662.98	40	chr10	49612016	.	A	G	1662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.478e+00;DP=1183;ExcessHet=0.0000;FS=4.388;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=0.501;SOR=1.040	GT:AD:DP:GQ:PL	0/1:100,78:178:99:1677,0,2719	20	0	1	0
chr10	69905818	69905818	G	A	exonic	COL13A1	.	nonsynonymous SNV	COL13A1:NM_001368896:exon13:c.G776A:p.R259Q	Myasthenic syndrome, congenital, 19, Autosomal recessive	.	426	1091	5	0	0	5	0.00228624	.	.	1491363	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	1.0	D	0.993	D	0.000	D	0.949	D	-0.045	N	-3.07	D	0.561	D	0.746	D	0.599	3.730	18.94	5.2	2.688	5.579	16.679	0.477	0.084327629592	.	.	0.0002	0	0	0.0002	0	7.804e-05	0.0012	0.0009	0.0001552	24	154602	rs369087232	0.0001	0.0001	9.259e-05	0.0002	0.0010	0.0001	0.0001	0.0007	0.0007	8.962e-05	0.0001	3.827e-05	5.039e-05	0	0.0010	5.937e-05	0.0003	0.0009	0.0001	0.0001	5.139e-05	0.0002	0.0006	8.169e-05	6.725e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	0.0001	0	0.0004	0.436	0.22746	T	0.574	0.09329	T	0.999	0.77913	D	0.913	0.76113	D	0.000256	0.46924	D	0.086125	0.94933	0.37648	D	0.87	0.21467	L	-3.07	0.94114	D	-0.86	0.26639	N	0.623	0.65501	0.561	0.91383	D	0.746	0.91348	D	10	0.14971823	0.28329	T	0.084328	0.74303	D	0.477	0.76881	.	.	0.859052421589	0.85768	0.40286607726822776	0.40202	0.624366153871	0.56642	0.56511425972	0.47988	T	0.257302	0.62832	T	-0.117159	0.33589	T	0.0084914	0.70884	D	0.182576179504395	0.19396	T	0.918808	0.72135	D	0.128618	0.30064	0.09888815	0.23592	0.128618	0.30064	0.09888815	0.23592	-6.515	0.50402	T	.	.	0.124	0.26825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.274277	0.65055	24.8	0.99895798825215687	0.96895	0.97010	0.72170	D	AEFBI	0.634828	0.61456	D	0.426673351733378	0.62892	4.513009	0.495526181365233	0.67692	5.118309	0.999997929376412	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	5.688000	0.67889	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	16.679	0.85146	764	0.49969	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	823.98	41	chr10	69905818	.	G	A	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=797;ExcessHet=0.0000;FS=0.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.176;SOR=0.935	GT:AD:DP:GQ:PL	0/1:35,35:70:99:838,0,822	20	0	1	0
chr10	70749921	70749921	C	T	exonic	ADAMTS14	.	nonsynonymous SNV	ADAMTS14:NM_080722:exon16:c.C2363T:p.A788V	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.004	B	0.009	B	0.161	N	1.000	N	-0.69	N	0.67	T	-1.045	T	0.032	T	0.061	0.974	8.976	-4.13	-0.614	0.453	1.101	0.141	.	.	0.013778	0.0077	0.0003	0.0014	0.0003	0	9.026e-05	0.0033	0.0548	0.0067334	1041	154602	rs375472897	0.0035	0.0035	0.0020	0.0050	0.0548	0.0034	0.0034	0.0535	0.0529	0.0003	0.0006	0	7.557e-05	0	0.0036	7.734e-05	0.0041	0.0548	0.0018	0.0018	0.0008	0.0028	0.0539	0.0016	0.0015	0.0485	0.0464	4.814e-05	0	0.0002	0	0.0004	9.422e-05	0.0034	4.411e-05	0.0005	0.0539	0.297	0.14645	T	0.292	0.20877	T	0.004	0.12183	B	0.004	0.10090	B	0.161366	0.17653	N	0.576977	1	0.08975	N	1.1	0.28011	L	0.67	0.52187	T	-0.86	0.23372	N	0.2	0.22098	-1.0447	0.15913	T	0.032	0.13592	T	10	0.0022140145	0.00032	T	.	.	.	0.141	0.37795	.	.	0.269111216191	0.26524	0.3587299531264283	0.35786	0.171333639152	0.19303	0.239934742451	0.02784	T	0.012948	0.11287	T	-0.661024	0.00062	T	-0.681312	0.06903	T	0.00471642684655219	0.00050	T	0.0751925	0.00551	T	0.029759804	0.02524	0.028087288	0.01013	0.029759804	0.02524	0.028087288	0.01013	-5.205	0.38992	T	.	.	0.073	0.04847	B	.;.	.;.	0.232072	0.06131	2.578	0.95440167658866371	0.26945	0.23449	0.22079	N	AEFDBCI	0.170846	0.29777	N	-1.30405548479824	0.03628	0.1624193	-1.30949037245449	0.04307	0.202852	0.953472086851655	0.28075	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.82	-4.13	0.03639	0.300000	0.18911	-7.149000	0.01220	-0.804000	0.03133	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2227:0.3855:0.1102:0.2816	1.101	0.01579	352	0.85375	.;ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	767.98	35	chr10	70749921	.	C	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.326e+00;DP=743;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-4.170e-01;SOR=0.332	GT:AD:DP:GQ:PL	0/1:23,33:56:99:782,0,531	20	0	1	0
chr10	71617355	71617355	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon11:c.G1096A:p.A366T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1504	18	0	0	18	0.00594845	.	.	53282	not_provided|not_specified|Nonsyndromic_genetic_hearing_loss|Usher_syndrome_type_1|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	1.0	D	0.995	D	0.000	D	1.000	D	0.495	N	1.01	T	-0.851	T	0.176	T	0.513	5.330	34	5.15	2.677	9.126	18.833	0.198	.	0.0081	0.00199681	0.0070	0.0027	0.0044	0.0001	0.0009	0.0110	0.0067	0.0012	0.0067658	1046	154602	rs143282422	0.0095	0.0095	0.0096	0.0094	0.0102	0.0094	0.0093	0.0100	0.0100	0.0017	0.0052	0.0535	0	0.0013	0.0064	0.0102	0.0104	0.0021	0.0065	0.0065	0.0072	0.0058	0.0091	0.0062	0.0061	0.0085	0.0083	0.0020	0.0121	0.0054	0.0452	0.0004	0.0010	0.0034	0.0091	0.0076	0.0019	0.135	0.29288	T	0.012	0.92824	D	1.0	0.90584	D	0.993	0.83170	D	0.000002	0.62929	D	0.000000	1	0.81001	D	0.415	0.12483	N	1.01	0.41058	T	-0.98	0.29525	N	0.789	0.81261	-0.8505	0.51933	T	0.176	0.52068	T	10	0.008493215	0.00192	T	.	.	.	0.198	0.48105	.	.	0.758690719046	0.75649	0.40012521450796107	0.39927	.	.	0.814825892448	0.84233	D	0.00253	0.44911	T	-0.38339	0.02966	T	-0.313102	0.43325	T	0.0318177186075019	0.02276	T	0.948305	0.80271	D	0.2967483	0.52611	0.3103192	0.57043	0.24499422	0.47454	0.22478768	0.47400	-11.389	0.84152	D	.	.	0.47	0.70478	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.917092	0.57157	23.8	0.99939848356716388	0.99767	0.99392	0.95437	D	AEFBI	0.953945	0.97066	D	0.54891561270629	0.70015	5.440025	0.610823582196733	0.75723	6.361509	0.999999999999997	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	9.239000	0.94505	11.594000	0.93426	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.833	0.92116	945	0.12563	Cadherin-like;.;.;.;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1930.98	33	chr10	71617355	.	G	A	1930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.052e+00;DP=855;ExcessHet=0.0000;FS=3.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=2.21;SOR=1.001	GT:AD:DP:GQ:PL	0/1:67,75:142:99:1945,0,1927	20	0	1	0
chr10	71712737	71712737	A	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon27:c.A3293G:p.N1098S	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	.	0	1520	2	0	0	2	0.000657462	.	.	55078	Usher_syndrome_type_1|Retinitis_pigmentosa-deafness_syndrome|not_specified|not_provided|CDH23-related_disorder	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.035	B	0.000	D	1.000	D	3.245	M	.	.	-0.360	T	0.367	T	0.406	3.262	16.95	4.92	1.824	9.300	14.568	0.510	0.347452847964	0.0032	0.000998403	0.0024	0.0015	0.0016	0	0.0005	0.0037	0.0036	0.0002	0.0024773	383	154602	rs41281310	0.0043	0.0043	0.0045	0.0041	0.0053	0.0042	0.0042	0.0052	0.0051	0.0008	0.0015	0.0030	2.519e-05	0.0006	0.0003	0.0053	0.0026	0.0005	0.0025	0.0025	0.0027	0.0022	0.0040	0.0023	0.0022	0.0036	0.0035	0.0010	0.0011	0.0025	0.0026	0	0.0006	0	0.0040	0.0014	0.0004	.	.	.	0.0	0.92824	D	0.01	0.15535	B	0.018	0.18489	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	.	.	.	.	.	.	0.881	0.90818	-0.3604	0.73251	T	0.367	0.72757	T	9	0.01566711	0.00329	T	0.347453	0.92179	D	0.510	0.78971	.	.	0.772906203633	0.77081	0.6748240950027312	0.67420	.	.	0.490558981895	0.37516	T	0.209777	0.93146	T	-0.255659	0.13414	T	-0.134886	0.60558	T	0.070809020024612	0.08764	T	0.963704	0.88511	D	0.2953604	0.52486	0.22443283	0.47355	0.2581605	0.48864	0.19727279	0.43499	-9.55	0.71170	D	.	.	0.265	0.52655	B	.;.;.;.;.	.;.;.;.;.	3.868090	0.56145	23.7	0.99336971787844264	0.60012	0.95515	0.65028	D	AEFDGBCI	0.954022	0.97080	D	0.271391955105883	0.54703	3.635363	0.35871253399463	0.59033	4.077998	0.99999999999989	0.74766	0.646311	0.45356	0	0.48864	0.07623	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.92	4.92	0.64147	9.290000	0.95109	11.083000	0.85785	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	1.0:0.0:0.0:0.0	14.568	0.67786	814	0.42100	Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|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	1	0	0.02381	1858.98	33	chr10	71712737	.	A	G	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.360e-01;DP=877;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-5.220e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/1:93,79:172:99:1873,0,2366	20	0	1	0
chr10	87008826	87008826	G	A	exonic	AGAP11	.	nonsynonymous SNV	AGAP11:NM_133447:exon12:c.G574A:p.A192T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	7.433e-05	9.794e-05	8.637e-05	0.0002	0	3.003e-05	0	0.0002	7.12e-05	11	154602	rs371225899	3.899e-05	3.899e-05	2.995e-05	4.813e-05	0.0003	3.047e-05	2.783e-05	0.0002	0.0001	0	6.708e-05	0	7.557e-05	0	0	2.428e-05	3.311e-05	0.0003	3.943e-05	3.938e-05	7.714e-05	0	0.0002	1.716e-05	1.13e-05	4.88e-06	1.83e-06	2.408e-05	0	6.541e-05	0	0.0002	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2971.98	191	chr10	87008826	.	G	A	2971.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.368e+00;DP=3780;ExcessHet=0.0000;FS=0.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.41;MQRankSum=-2.155e+00;QD=11.56;ReadPosRankSum=0.162;SOR=0.635	GT:AD:DP:GQ:PL	0/1:134,123:257:99:2986,0,3368	20	0	1	0
chr10	98209741	98209741	G	C	exonic	R3HCC1L	.	nonsynonymous SNV	R3HCC1L:NM_001351016:exon2:c.G1627C:p.V543L	.	.	425	1058	39	0	0	39	0.0180974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	B	0.037	B	0.279	N	1.000	N	1.935	M	2.8	T	-1.000	T	0.013	T	0.104	-0.034	3.838	-2.64	-0.297	-0.504	10.172	0.009	.	0.0038	0.00379393	0.0038	0.0014	0.0050	0	0.0011	0.0052	0.0055	0.0017	0.003978	615	154602	rs148867373	0.0052	0.0052	0.0053	0.0051	0.0170	0.0051	0.0051	0.0143	0.0133	0.0017	0.0042	0.0100	2.52e-05	0.0012	0.0170	0.0058	0.0057	0.0020	0.0037	0.0037	0.0040	0.0034	0.0055	0.0034	0.0033	0.0050	0.0048	0.0011	0	0.0048	0.0078	0.0002	0.0018	0.0136	0.0055	0.0080	0.0008	0.01	0.56456	D	0.094	0.41239	T	0.029	0.19866	B	0.017	0.18140	B	0.278874	0.14983	N	0.624373	1	0.18198	N	2.455	0.71248	M	2.8	0.11082	T	-1.03	0.27052	N	0.051	0.02272	-1.0001	0.29888	T	0.013	0.05225	T	9	0.0033772886	0.00059	T	.	.	.	0.009	0.00846	0.165	0.06955	0.117506650769	0.11410	0.03523678591436901	0.03470	0.0179236615725	0.01753	0.29893258214	0.10242	T	0.017047	0.13973	T	-0.635718	0.00088	T	-0.681797	0.06875	T	0.00776321408992993	0.00091	T	0.776522	0.40874	T	0.02987695	0.02556	0.07009616	0.14850	0.02987695	0.02556	0.07009616	0.14850	-3.339	0.14245	T	.	.	0.137	0.31482	B	.;.;.;.	.;.;.;.	-0.093127	0.03683	0.745	0.81718824883297669	0.13825	0.06191	0.12176	N	AEFBI	0.044330	0.07119	N	-1.13936193443589	0.05956	0.2729676	-1.23120727583972	0.05416	0.2579731	0.995126147704923	0.33964	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	-2.64	0.05757	-0.466000	0.06749	-0.520000	0.08695	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.6126:0.0:0.3874:0.0	10.172	0.42093	767	0.49651	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1658.98	38	chr10	98209741	.	G	C	1658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.732e+00;DP=991;ExcessHet=0.0000;FS=6.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=1.33;SOR=1.230	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1673,0,1901	20	0	1	0
chr10	100297085	100297085	G	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon6:c.C939G:p.C313W	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.991	D	0.000	D	1.000	D	2.395	M	-0.52	T	-0.184	T	0.460	T	0.932	1.325	10.35	-2.22	-0.422	-0.182	11.763	0.570	0.315243742758	.	.	2.471e-05	0	8.639e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs150913711	4.789e-06	4.788e-06	5.446e-06	4.125e-06	0.0002	1.99e-06	1.28e-06	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0.0002	3.598e-06	1.656e-05	0	3.286e-05	3.283e-05	3.854e-05	2.691e-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	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.046390	0.999869	0.50061	D	2.885	0.83555	M	-0.52	0.70717	T	-7.57	0.95246	D	0.82	0.81559	-0.1845	0.78067	T	0.460	0.79027	T	10	0.8707615	0.86341	D	0.315244	0.91309	D	0.570	0.82516	0.674	0.81200	0.523650220922	0.52011	0.9646971957464139	0.96456	0.468396034955	0.46186	0.692872405052	0.66118	T	0.374728	0.73847	T	0.219955	0.75772	D	0.161039	0.80870	D	0.86508321762085	0.51522	D	0.894511	0.63379	D	0.9158588	0.92848	0.8711945	0.92949	0.9158588	0.92849	0.8711945	0.92949	-14.798	0.95361	D	.	.	0.673	0.71852	P	.	.	1.747391	0.22230	15.54	0.98805374684760849	0.46525	0.19009	0.20491	N	AEFBCI	0.598674	0.59198	D	-0.462456265735494	0.23319	1.251433	-0.692856475465341	0.17138	0.9099797	0.861564201797916	0.25236	0.608966	0.35542	0	0.610034	0.51514	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	4.95	-2.22	0.06560	-0.215000	0.09284	0.303000	0.17000	-0.707000	0.03972	0.000000	0.06391	0.003000	0.18671	0.336000	0.25340	0.5123:0.0:0.4877:0.0	11.763	0.51185	818	0.41518	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2574.98	35	chr10	100297085	.	G	C	2574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.209;DP=1231;ExcessHet=0.0000;FS=0.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=-6.800e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:156,117:273:99:2589,0,3554	20	0	1	0
chr10	102066534	102066534	C	T	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.C1060T:p.H354Y,	Hermansky-Pudlak syndrome 6	.	0	1515	7	0	0	7	0.00230491	.	.	494109	not_specified|not_provided|Hermansky-Pudlak_syndrome_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.001	B	0.004	B	0.040	N	1.000	N	0.4	N	-1.1	T	-0.962	T	0.208	T	0.166	-0.059	3.712	1.13	0.324	0.357	9.902	0.080	0.017421491451	0.0004	.	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003752	58	154602	rs149692177	0.0003	0.0003	0.0003	0.0003	0.0062	0.0003	0.0003	0.0046	0.0041	0	0.0002	0.0013	0	3.748e-05	0.0062	0.0003	0.0004	0.0002	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	9.62e-05	0	0.0003	0.0012	0	0	0	0.0005	0.0009	0	0.297	0.14645	T	0.545	0.09588	T	0.001	0.07471	B	0.004	0.10090	B	0.039543	0.24158	N	0.407957	1	0.08975	N	0.77	0.19370	N	-1.1	0.77336	T	-1.84	0.43149	N	0.207	0.22998	-0.9617	0.38858	T	0.208	0.56717	T	10	0.022665799	0.00572	T	0.017421	0.39111	T	0.080	0.23350	.	.	0.371718192555	0.36778	0.5225928693087791	0.52182	0.550565468982	0.51920	0.488987207413	0.37298	T	0.232892	0.59957	T	-0.35371	0.04499	T	-0.388372	0.34741	T	0.0305371545255184	0.02072	T	0.569643	0.20265	T	0.05374947	0.10217	0.07234307	0.15597	0.05374947	0.10217	0.07234307	0.15597	-4.402	0.29585	T	0.14166376916505227	0.15956	0.076	0.05935	B	.	.	1.444972	0.18651	13.85	0.852437211366744	0.15772	0.10009	0.15631	N	AEFDGBCI	0.071452	0.14224	N	-1.03145122456286	0.07956	0.3714085	-0.961473709549294	0.10658	0.5381762	0.999925226716909	0.46280	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.09	1.13	0.19758	0.829000	0.27102	0.378000	0.17749	-0.182000	0.10109	0.007000	0.17678	0.055000	0.21918	0.652000	0.32748	0.0:0.7185:0.0:0.2815	9.902	0.40525	531	0.73574	.	.	.	.	.	.	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	0.04762	3818.11	35	chr10	102066534	.	C	T	3818.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.510;DP=1025;ExcessHet=0.1072;FS=1.292;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.784;SOR=0.776	GT:AD:DP:GQ:PL	0/1:93,89:182:99:2242,0,2221	19	0	2	0
chr10	102423499	102423499	C	T	exonic	CUEDC2	.	nonsynonymous SNV	CUEDC2:NM_024040:exon9:c.G791A:p.R264Q,	.	.	421	1100	0	1	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.484	P	0.000	D	0.991	D	1.245	L	-2.21	D	-0.005	T	0.495	T	0.125	3.793	19.26	4.98	2.326	5.583	7.285	0.319	0.130593983463	.	.	2.484e-05	0.0002	0	0	0	1.498e-05	0	0	3.23e-05	5	154602	rs372005158	2.531e-05	2.531e-05	2.995e-05	2.063e-05	3.147e-05	1.868e-05	1.631e-05	2.285e-05	2.022e-05	0	0	0	0	0	0	3.147e-05	3.311e-05	0	2.629e-05	2.626e-05	3.854e-05	1.345e-05	9.654e-05	8.14e-06	5.14e-06	3.25e-05	1.915e-05	9.654e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.063	0.45110	T	0.984	0.60733	D	0.484	0.47189	P	0.000001	0.84330	D	0.052805	0.991051	0.41297	D	1.7	0.43825	L	-2.21	0.86963	D	-1.27	0.31981	N	0.113	0.10056	-0.0050	0.82153	T	0.495	0.80883	T	10	0.21926197	0.38591	T	0.130594	0.81277	D	0.319	0.64112	.	.	0.881788646564	0.88063	0.7166744339891384	0.71610	0.537878012552	0.51066	0.394310623407	0.24275	T	0.042082	0.26068	T	-0.181457	0.23519	T	-0.261758	0.48649	T	0.433874517679214	0.30203	T	0.873313	0.58144	D	0.29809976	0.52733	0.13385022	0.32088	0.29809976	0.52733	0.13385022	0.32087	-4.208	0.26867	T	.	.	0.117	0.23605	B	.	.	5.213668	0.87485	29.3	0.9991484939135612	0.98309	0.73898	0.36146	D	AEFGBCI	0.409641	0.48083	N	0.457975881461671	0.64657	4.725258	0.498386496008559	0.67883	5.144015	0.999999979183089	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	5.594000	0.67248	7.610000	0.61877	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8104:0.0:0.1896	7.285	0.25509	741	0.52966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2893.98	36	chr10	102423499	.	C	T	2893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=939;ExcessHet=0.0000;FS=9.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.164;SOR=0.336	GT:AD:DP:GQ:PL	0/1:110,113:223:99:2908,0,2779	20	0	1	0
chr10	109888103	109888103	C	T	exonic	XPNPEP1	.	nonsynonymous SNV	XPNPEP1:NM_001324128:exon5:c.G256A:p.D86N	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.002	B	0.005	B	0.000	N	1.000	D	1.06	L	.	.	-0.963	T	0.130	T	0.067	3.699	18.79	3.83	1.356	4.053	9.665	0.138	0.00387809113227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.41915	T	0.185	0.31629	T	.	.	.	.	.	.	0.000001	0.84330	N	0.094335	0.999956	0.52396	D	.	.	.	.	.	.	-3.86	0.73893	D	0.233	0.32037	-0.9632	0.38567	T	0.130	0.43927	T	9	0.20810613	0.37128	T	0.003878	0.09117	T	0.138	0.37187	0.438	0.49157	0.134007934775	0.12933	0.8175089366439597	0.81707	0.573681854997	0.53415	0.445728898048	0.31360	T	.	.	.	-0.18147	0.23516	T	-0.498445	0.22508	T	0.962348580360413	0.66341	D	0.882712	0.70392	D	.	.	.	.	.	.	.	.	-8.007	0.62013	D	.	.	0.121	0.25067	B	.;.;.;.;.	.;.;.;.;.	3.372222	0.46602	22.3	0.99802907052794787	0.88728	0.89589	0.50150	D	AEFBCI	0.460782	0.51081	N	-0.113925205847871	0.36787	2.131083	0.0606600761743817	0.42590	2.578696	0.999999623520121	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	3.83	0.43287	4.117000	0.57623	4.019000	0.41233	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8353:0.0:0.1647	9.665	0.39143	963	0.08280	.;.;.;.;.	.	.	.	.	.	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	1089.98	34	chr10	109888103	.	C	T	1089.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.849;DP=780;ExcessHet=0.0000;FS=6.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.328;SOR=0.881	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1104,0,1032	20	0	1	0
chr10	113577182	113577182	C	T	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon5:c.C286T:p.R96W	.	.	421	1097	4	0	0	4	0.00181984	.	.	865450	HABP2-related_disorder|Factor_VII_Marburg_I_Variant_Thrombophilia|Thyroid_cancer,_nonmedullary,_5|Thrombophilia_due_to_thrombin_defect	.|MedGen:CN068943|MONDO:MONDO:0014682,MedGen:C4225292,OMIM:616535|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.997	D	0.724	P	0.117	N	1.000	D	1.845	L	0.09	T	-0.662	T	0.242	T	0.439	4.057	20.8	3.63	1.374	0.929	10.790	0.230	0.0323337413745	0.0018	0.000798722	0.0025	0.0007	0.0013	0	0.0012	0.0031	0.0011	0.0041	0.0024062	372	154602	rs78201625	0.0027	0.0027	0.0026	0.0028	0.0047	0.0026	0.0026	0.0043	0.0042	0.0004	0.0010	0.0024	5.04e-05	0.0014	0.0016	0.0029	0.0018	0.0047	0.0018	0.0018	0.0019	0.0017	0.0029	0.0016	0.0015	0.0026	0.0025	0.0004	0	0.0013	0.0023	0	0.0012	0	0.0029	0.0009	0.0027	0.152	0.27544	T	0.038	0.54934	D	0.997	0.70673	D	0.724	0.55036	P	0.117088	0.19167	N	0.566502	0.999999	0.58761	D	2.535	0.73915	M	0.09	0.61443	T	-1.94	0.45042	N	0.41	0.45426	-0.6619	0.62192	T	0.242	0.61036	T	10	0.014141113	0.00298	T	0.032334	0.54190	D	0.230	0.53062	.	.	0.71767939224	0.71519	0.6921587702223854	0.69155	0.0391274229948	0.04164	0.225515067577	0.01653	T	0.103462	0.41213	T	-0.315412	0.07280	T	-0.225714	0.52187	T	0.0377780197700476	0.03294	T	0.810819	0.46223	T	0.13011986	0.30370	0.16661122	0.38482	0.12904038	0.30150	0.15173118	0.35728	-10.309	0.75852	D	.	.	0.133	0.28892	B	.;.	.;.	4.171290	0.62719	24.5	0.99909431311965646	0.97949	0.50528	0.28683	D	AEFBHCI	0.507746	0.53791	D	0.186741802580345	0.50564	3.245059	0.117442191570917	0.45442	2.807213	0.00331410685711217	0.10051	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.65	3.63	0.40741	0.952000	0.28747	2.315000	0.32100	0.599000	0.40250	0.122000	0.23210	0.990000	0.31317	0.994000	0.71098	0.4819:0.5181:0.0:0.0	10.790	0.45627	906	0.23090	.;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2498.98	33	chr10	113577182	.	C	T	2498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=924;ExcessHet=0.0000;FS=2.223;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=0.953;SOR=0.791	GT:AD:DP:GQ:PL	0/1:116,115:231:99:2513,0,2548	20	0	1	0
chr10	114162905	114162905	A	T	exonic	CCDC186	.	nonsynonymous SNV	CCDC186:NM_018017:exon2:c.T364A:p.L122I	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.78	P	0.38	B	0.002	N	1.000	D	1.445	L	1.34	T	-1.069	T	0.079	T	0.248	2.965	15.89	5.68	2.174	1.335	7.007	0.041	0.0089236196809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.39820	T	0.401	0.20811	T	0.78	0.44271	P	0.38	0.43842	B	0.001728	0.38161	N	0.118776	0.885829	0.27969	N	.	.	.	1.34	0.34841	T	-0.3	0.24026	N	0.166	0.27077	-1.0689	0.09657	T	0.079	0.31466	T	10	0.13378838	0.25462	T	0.008924	0.23511	T	0.041	0.10877	0.204	0.11936	0.332133492242	0.32818	0.10959568986451589	0.10888	0.294244087511	0.31844	.	.	.	0.033186	0.22810	T	-0.152631	0.27900	T	-0.457021	0.26924	T	0.367824763059616	0.27713	T	0.768423	0.39759	T	0.045717895	0.07531	0.057504673	0.10466	0.045717895	0.07531	0.057504673	0.10465	-4.221	0.27055	T	.	.	0.095	0.36194	B	.;.;.;.	.;.;.;.	2.032724	0.25837	16.90	0.98910099006513685	0.48363	0.79326	0.39287	D	AEBI	0.121661	0.23644	N	0.239414297110612	0.53117	3.48216	0.323365189591556	0.56917	3.855758	0.999947806884769	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.68	5.68	0.88021	1.347000	0.33580	3.597000	0.39209	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.8746:0.0:0.1254:0.0	7.007	0.24019	633	0.64743	.;.;.;.	.	.	.	.	.	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	1736.98	35	chr10	114162905	.	A	T	1736.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=1.44;SOR=0.677	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1751,0,2200	20	0	1	0
chr10	114228042	114228042	A	T	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385370:exon23:c.A3113T:p.E1038V	.	.	579	942	1	0	0	1	0.000530504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.922	D	0.007	N	0.620	N	1.995	M	2.77	T	-0.986	T	0.107	T	0.368	3.180	16.64	5.73	2.170	4.271	10.494	0.113	0.0121808332746	0.0002	0.000199681	0.0005	0	9.651e-05	0	0	0.0003	0.0012	0.0021	0.0003428	53	154602	rs201463872	0.0002	0.0002	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	3.007e-05	0.0002	0.0036	2.522e-05	0	0.0005	2.522e-05	0.0005	0.0022	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.692e-05	0.0014	0.0011	0	0	0	0.0023	0	0	0	5.88e-05	0.0005	0.0025	0.425	0.68238	T	0.004	0.74150	D	0.996	0.68779	D	0.856	0.61001	P	0.007239	0.31521	N	0.318924	0.999982	0.30791	N	2.215	0.62545	M	2.71	0.12162	T	-1.93	0.66549	N	0.355	0.39659	-0.9855	0.33711	T	0.107	0.39051	T	10	0.014011502	0.00295	T	0.012181	0.30521	T	0.113	0.31778	.	.	0.269682111328	0.26585	0.2409419024017593	0.24008	0.808772558786	0.66638	0.334747463465	0.15650	T	.	.	.	-0.448428	0.01154	T	-0.42277	0.30759	T	0.13150568462755	0.15520	T	0.754025	0.37642	T	.	.	.	.	.	.	.	.	-5.321	0.40150	T	.	.	0.268	0.50241	B	.;.;.	.;.;.	3.796244	0.54670	23.5	0.99101460059766799	0.52471	0.90463	0.51660	D	AEBI	0.459617	0.51015	N	0.558086687077969	0.70576	5.521808	0.584066601775411	0.73799	6.029707	0.00465077307217206	0.10654	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	4.283000	0.58770	9.293000	0.79808	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8556:0.0:0.0:0.1444	10.494	0.43953	894	0.26265	.;.;.	.	.	.	.	.	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	2840.98	34	chr10	114228042	.	A	T	2840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.472e+00;DP=892;ExcessHet=0.0000;FS=4.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-1.735e+00;SOR=0.458	GT:AD:DP:GQ:PL	0/1:97,104:201:99:2855,0,2584	20	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.104	B	0.024	B	0.101	N	0.919	D	1.04	L	-1.98	D	-0.339	T	0.434	T	0.463	2.178	13.24	5.68	2.837	2.613	15.630	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	3789.59	132	chr10	117341050	.	C	T	3789.59	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-3.850e+00;DP=2047;ExcessHet=6.1002;FS=296.226;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.464;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=1.38;SOR=10.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,59:168:99:0|1:117341048_C_T:572,0,3134:117341048	4	0	10	7
chr10	122083842	122083842	G	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.G1342T:p.A448S	.	.	417	1089	16	0	0	16	0.00729262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.123	B	0.034	B	0.568	N	1.000	N	0.895	L	3.84	T	-0.944	T	0.006	T	0.062	2.527	14.41	-3.99	-0.285	0.055	1.930	0.024	.	0.0042	0.00279553	0.0043	0.0009	0.0019	0	0.0020	0.0058	0.0121	0.0050	0.0044631	690	154602	rs77657275	0.0056	0.0056	0.0055	0.0057	0.0094	0.0055	0.0054	0.0074	0.0067	0.0008	0.0021	0.0115	5.038e-05	0.0015	0.0094	0.0062	0.0056	0.0050	0.0039	0.0039	0.0044	0.0035	0.0066	0.0037	0.0036	0.0061	0.0059	0.0010	0	0.0018	0.0089	0.0002	0.0015	0.0102	0.0066	0.0052	0.0044	0.006	0.63226	D	0.033	0.53072	D	0.123	0.26785	B	0.034	0.22546	B	0.568146	0.11266	N	0.724041	1	0.08975	N	1.79	0.46772	L	3.84	0.03863	T	-0.3	0.13035	N	0.155	0.19190	-0.9440	0.41976	T	0.006	0.01981	T	10	0.0035997927	0.00065	T	.	.	.	0.024	0.04979	.	.	0.329282125956	0.32538	0.07783770136316441	0.07719	0.117977574611	0.13280	0.289715051651	0.08881	T	0.014395	0.12263	T	-0.681297	0.00047	T	-0.745015	0.03683	T	0.0043738848235579	0.00047	T	0.69513	0.30552	T	0.081182115	0.18640	0.048901983	0.07361	0.081182115	0.18640	0.048901983	0.07360	-4.032	0.24281	T	.	.	0.129	0.27553	B	.;.;.;.;.	.;.;.;.;.	0.665888	0.10342	7.072	0.95008689206703223	0.25979	0.01772	0.05559	N	AEFDBI	.	.	.	-1.21397749902454	0.04796	0.217244	-1.29267036785511	0.04529	0.2138317	0.879684112285858	0.25592	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.09	-3.99	0.03798	0.130000	0.15676	.	.	-0.799000	0.03183	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.5136:0.1421:0.2003:0.144	1.930	0.03123	944	0.12746	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3434.11	41	chr10	122083842	.	G	T	3434.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.965;DP=1268;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=1.45;SOR=0.695	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1856,0,1462	19	0	2	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:71,31:120:99:103,0,1004	4	0	15	2
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	2/3:2,0,130,7:142:99:.:.:5255,5265,5337,171,241,327,5042,5115,0,5095	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	2/3:2,0,130,7:142:99:.:.:5255,5265,5337,171,241,327,5042,5115,0,5095	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|1:103,28:131:99:0|1:124989533_G_A:632,0,4127:124989533	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	0/1:124,21:145:99:176,0,4204	1	0	20	0
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|1:131,26:157:99:0|1:124994489_T_G:697,0,5422:124994489	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|1:136,38:174:99:0|1:124994489_T_G:1186,0,5576:124994489	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|1:138,38:176:99:0|1:124994489_T_G:1180,0,5553:124994489	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|1:127,45:172:99:0|1:124994523_G_A:1443,0,5060:124994523	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	0/1:132,44:176:99:663,0,3648	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	0/1:134,53:187:99:852,0,3625	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|1:131,54:185:99:0|1:124994577_C_A:1803,0,5260:124994577	0	0	21	0
chr10	128107510	128107510	G	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.C3250T:p.P1084S	.	.	415	1054	50	3	0	56	0.025878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.376	B	0.159	B	.	.	1.000	N	1.32	L	4.45	T	-0.921	T	0.004	T	0.086	0.182	4.979	-4.92	-1.196	-2.736	3.504	0.010	.	0.0019	0.00638978	0.0053	0.0006	0.0015	0	0.0003	0.0030	0.0099	0.0250	0.0047541	735	154602	rs150235556	0.0041	0.0041	0.0034	0.0048	0.0250	0.0040	0.0040	0.0241	0.0238	0.0005	0.0015	0.0039	5.038e-05	0.0002	0.0154	0.0029	0.0047	0.0250	0.0025	0.0025	0.0021	0.0029	0.0226	0.0023	0.0022	0.0192	0.0179	0.0005	0	0.0025	0.0020	0	9.452e-05	0.0102	0.0028	0.0033	0.0226	0.549	0.06606	T	0.533	0.11115	T	0.274	0.31942	B	0.095	0.34693	B	.	.	.	.	1	0.08975	N	1.2	0.30300	L	4.45	0.02121	T	-0.55	0.19509	N	0.045	0.02559	-0.9208	0.45445	T	0.004	0.01192	T	9	0.0024415255	0.00036	T	.	.	.	0.010	0.01040	.	.	0.0806252709748	0.07271	0.06821357982089558	0.06759	0.0705515030347	0.07905	0.20219168067	0.00523	T	0.006402	0.05833	T	-0.709069	0.00032	T	-0.772381	0.02690	T	0.00125653303169228	0.00012	T	0.392661	0.09777	T	0.017183786	0.00253	0.035346843	0.02770	0.017183786	0.00253	0.035346843	0.02769	-4.658	0.35317	T	.	.	0.125	0.26294	B	.;.	.;.	-0.793587	0.01119	0.051	0.63563244844952571	0.07257	0.05960	0.11919	N	AEFBCI	0.033499	0.03990	N	-1.40033669219104	0.02636	0.1166865	-1.53845965137984	0.02056	0.09401566	0.998780027204579	0.37667	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.15	-4.92	0.02848	-2.506000	0.01038	-12.966000	0.00488	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3384:0.0:0.2863:0.3753	3.504	0.07244	969	0.06854	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3507.98	101	chr10	128107510	.	G	A	3507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=3201;ExcessHet=0.0000;FS=3.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.794e+00;SOR=0.528	GT:AD:DP:GQ:PL	0/1:142,141:283:99:3522,0,3375	20	0	1	0
chr11	499944	499944	G	A	exonic	RNH1	.	nonsynonymous SNV	RNH1:NM_203384:exon4:c.C328T:p.R110C	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.999	D	0.548	P	0.107	N	0.985	N	2.095	M	0.99	T	-0.964	T	0.117	T	0.422	1.129	9.603	1.12	0.327	1.596	5.141	0.117	0.103392272384	0.0049	0.00179712	0.0060	0.0020	0.0014	0	0.0082	0.0089	0.0016	0.0026	0.004366	675	154602	rs117254759	0.0066	0.0066	0.0069	0.0064	0.0078	0.0065	0.0065	0.0077	0.0076	0.0010	0.0014	0.0040	0	0.0069	0.0015	0.0078	0.0046	0.0019	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0064	0.0062	0.0013	0	0.0014	0.0037	0	0.0055	0	0.0070	0.0043	0.0017	0.074	0.78490	T	0.034	0.69154	D	0.999	0.77913	D	0.548	0.49136	P	0.106549	0.19609	N	0.423423	0.98541	0.24713	N	2.285	0.65182	M	0.99	0.54149	T	-2.52	0.77798	D	0.394	0.43803	-0.9637	0.38468	T	0.117	0.41187	T	10	0.0055663884	0.00123	T	0.103392	0.77739	D	0.117	0.32689	.	.	0.690818619429	0.68816	0.4378412686119318	0.43701	0.642168430392	0.57789	0.411553770304	0.26672	T	0.123394	0.44773	T	-0.396166	0.02453	T	-0.33516	0.40892	T	0.025197134143806	0.01298	T	0.79622	0.56114	T	0.37820172	0.59186	0.12681967	0.30538	0.37820172	0.59186	0.12681967	0.30537	-6.856	0.52974	T	.	.	0.125	0.37988	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.528874	0.32689	19.12	0.99656008721594225	0.77631	0.22819	0.21873	N	AEFBCI	0.228658	0.35229	N	-0.343048869355888	0.27528	1.511066	-0.584454568967611	0.19898	1.069654	0.731839146626737	0.23059	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.03	1.12	0.19700	0.072000	0.14482	1.360000	0.25874	0.506000	0.23061	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.2832:0.0:0.7168:0.0	5.141	0.14289	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	chr11:499944	Likely benign	0	0	0	0	0	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	1746.11	79	chr11	499944	.	G	A	1746.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.481;DP=863;ExcessHet=0.1072;FS=2.746;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.281;SOR=0.511	GT:AD:DP:GQ:PL	0/1:55,30:85:99:609,0,1284	19	0	2	0
chr11	556924	556924	A	G	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon8:c.T887C:p.V296A,	.	.	378	1143	1	0	0	1	0.000437254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.006	B	0.221	N	1.000	N	0.345	N	0.99	T	-1.063	T	0.045	T	0.145	0.671	7.594	-1.27	-0.437	0.108	0.092	0.115	0.00538949764264	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs775499674	1.867e-05	1.847e-05	2.2e-05	1.53e-05	0.0002	1.278e-05	1.096e-05	1.217e-05	1.033e-05	0	0	0	0	0	0.0002	1.895e-05	6.672e-05	1.176e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	1.0	0.00964	T	0.581	0.08476	T	0.01	0.15535	B	0.006	0.12133	B	0.221151	0.03455	N	1.900440	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.24	0.10833	N	0.087	0.06454	-1.0629	0.11045	T	0.045	0.19316	T	10	0.040928185	0.02703	T	0.005389	0.13832	T	0.115	0.32236	0.118	0.02577	0.367992661779	0.36405	0.05790115443408168	0.05731	0.0791812460476	0.08904	.	.	.	0.015216	0.12804	T	-0.350972	0.04666	T	-0.659058	0.08331	T	0.032694521772357	0.02420	T	0.30297	0.05734	T	0.0282098	0.02124	0.033861488	0.02353	0.0282098	0.02124	0.033861488	0.02353	-2.48	0.05646	T	.	.	0.185	0.40114	B	.	.	0.201405	0.05860	2.302	0.40020279372681983	0.02798	0.01416	0.04782	N	AEFDBI	0.073014	0.14591	N	-1.32791663448828	0.03360	0.1499298	-1.34491917951357	0.03866	0.1812128	0.999672261168216	0.41644	0.609539	0.35627	0	0.493711	0.08144	1	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.42	-1.27	0.08863	-0.414000	0.07179	-0.223000	0.10745	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3302:0.1622:0.1924:0.3152	0.092	0.00037	912	0.21483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	674.98	35	chr11	556924	.	A	G	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.680e-01;DP=845;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.64;ReadPosRankSum=-1.600e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:39,31:70:99:689,0,913	20	0	1	0
chr11	1013992	1013992	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon32:c.G7049A:p.S2350N,	.	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.941	P	0.425	B	.	.	1.000	N	1.65	L	2.04	T	-1.055	T	0.034	T	0.034	0.948	8.866	1.88	0.387	1.012	5.304	0.056	.	0.0038	0.00139776	0.0070	0.0015	0.0009	0	0.0218	0.0099	0.0037	0.0018	0.0045924	710	154602	rs148815783	0.0062	0.0062	0.0064	0.0060	0.0070	0.0061	0.0061	0.0068	0.0068	0.0010	0.0009	0.0017	0	0.0158	0.0012	0.0070	0.0041	0.0014	0.0046	0.0046	0.0047	0.0046	0.0066	0.0044	0.0042	0.0061	0.0059	0.0012	0	0.0016	0.0026	0	0.0161	0	0.0066	0.0005	0.0012	0.027	0.46513	D	0.01	0.65728	D	0.941	0.52883	P	0.425	0.45259	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	2.04	0.20808	T	-0.89	0.24026	N	0.233	0.26233	-1.0550	0.13040	T	0.034	0.14552	T	9	0.0065174997	0.00148	T	.	.	.	0.056	0.15993	.	.	0.500868654924	0.49723	0.11142178411848841	0.11071	0.0825499896549	0.09315	0.360421180725	0.19446	T	0.042418	0.26175	T	-0.690488	0.00042	T	-0.755219	0.03287	T	0.0116181190688025	0.00177	T	.	.	.	0.073693715	0.16485	0.097447015	0.23196	0.073693715	0.16485	0.097447015	0.23195	-7.278	0.56038	T	.	.	0.144	0.31733	B	.	.	1.717483	0.21869	15.38	0.96988284676814884	0.31892	0.12235	0.17144	N	AEFBCI	0.100245	0.20161	N	-0.369346665629509	0.26567	1.45092	-0.545701472199829	0.20919	1.129303	0.82838907774938	0.24649	0.514905	0.20481	0	0.550933	0.16991	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	3.81	1.88	0.24630	0.291000	0.18748	0.966000	0.23025	0.539000	0.25131	0.013000	0.18845	0.000000	0.08366	0.014000	0.10232	0.0:0.6747:0.2086:0.1167	5.304	0.15102	830	0.39242	Cystine knot, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	818.98	33	chr11	1013992	.	C	T	818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=797;ExcessHet=0.0000;FS=3.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=1.09;SOR=0.330	GT:AD:DP:GQ:PL	0/1:25,34:59:99:833,0,600	20	0	1	0
chr11	1016614	1016614	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C6187A:p.P2063T,	.	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.006	B	0.006	B	.	.	1.000	N	1.845	L	1.91	T	-0.990	T	0.047	T	0.089	0.739	7.922	-2.22	-0.967	-0.706	1.669	0.009	0.00175165915732	.	.	0.0004	0	9.029e-05	0.0006	0.0002	0.0004	0.0013	0.0007	0.0004269	66	154602	rs148793744	0.0001	0.0013	0.0001	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	9.571e-05	0.0002	0.0001	0.0007	0.0002	0	0.0001	0.0002	0.0003	0.0040	0.0045	0.0042	0.0038	0.0227	0.0029	0.0025	0.0062	0.0033	0.0048	0	0.0033	0	0.0227	0.0035	0	0.0029	0.0079	0.0147	0.047	0.40319	D	0.282	0.21545	T	0.006	0.13644	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.085	0.57729	M	1.91	0.23283	T	-1.45	0.35597	N	0.048	0.01999	-0.9902	0.32551	T	0.047	0.20275	T	9	0.0031918883	0.00054	T	0.001752	0.02960	T	0.009	0.00846	.	.	0.117506650769	0.11410	0.19015794908314243	0.18933	0.342876420663	0.36218	0.1855314821	0.00156	T	0.047332	0.27691	T	-0.217386	0.18352	T	-0.550037	0.17323	T	0.0452130291724069	0.04641	T	.	.	.	0.050521784	0.09141	0.0766043	0.16982	0.050521784	0.09141	0.0766043	0.16982	-4.787	0.34440	T	.	.	0.071	0.03964	B	.	.	0.735216	0.11045	7.699	0.85479584403720932	0.15919	0.04555	0.10195	N	AEFDGBCI	0.033397	0.03951	N	-1.52482507739275	0.01687	0.07384677	-1.6531557408996	0.01360	0.06139855	0.999996812163428	0.74766	0.004792	0.00041	3	0.008208	0.00037	3	0.019298	0.00145	3	0.683672	0.66515	0	.	.	2.46	-2.22	0.06560	-1.300000	0.02859	-6.638000	0.01345	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3172:0.1383:0.4048:0.1396	1.669	0.02638	830	0.39242	.	.	.	.	.	.	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	6439.11	248	chr11	1016614	.	G	T	6439.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.38;DP=4614;ExcessHet=0.1072;FS=6.487;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.51;MQRankSum=0.775;QD=11.34;ReadPosRankSum=-8.400e+00;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,57:272:99:0|1:1016614_G_T:1674,0,8739:1016614	19	0	2	0
chr11	1016698	1016698	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T6103C:p.S2035P,	.	.	337	1184	1	0	0	1	0.000422119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	N	0.35	N	1.61	T	-1.022	T	0.035	T	0.133	0.988	9.036	-3.31	-0.888	-2.204	6.544	0.010	0.0032764450776	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348308459	0	4.036e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.616e-06	0.0037	0	1.353e-05	6.571e-05	0	0	.	.	0	0	6.571e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.26	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.975	0.53506	M	1.61	0.28391	T	0.16	0.05217	N	0.017	0.00226	-1.0219	0.23096	T	0.035	0.15204	T	9	0.056661963	0.06385	T	0.003276	0.07237	T	0.010	0.01040	.	.	0.141422826196	0.13715	0.09814884797171804	0.09745	0.528953778079	0.50459	0.199680924416	0.00447	T	0.03194	0.22267	T	-0.275574	0.11144	T	-0.633619	0.10141	T	0.133303746581078	0.15684	T	.	.	.	0.11627896	0.27428	0.11207834	0.27041	0.11627896	0.27427	0.11207834	0.27040	-7.81	0.59768	D	.	.	0.077	0.06250	B	.	.	0.149198	0.05419	1.892	0.95721010947632323	0.27646	0.02388	0.06778	N	AEFDGBCI	0.060621	0.11532	N	-1.4173594588111	0.02486	0.1098523	-1.53648350604508	0.02070	0.09467104	0.999997689214056	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.67197	0.60751	0	0.387032	0.06801	2	.	.	1.66	-3.31	0.04677	-4.186000	0.00316	-2.395000	0.03808	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4151:0.0:0.5849:0.0	6.544	0.21594	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	137.98	462	chr11	1016698	.	A	G	137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.009e+00;DP=9843;ExcessHet=0.0000;FS=4.101;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.80;MQRankSum=-7.532e+00;QD=0.17;ReadPosRankSum=0.206;SOR=1.625	GT:AD:DP:GQ:PL	0/1:745,57:802:99:152,0,30625	20	0	1	0
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	0/2:473,67,226:766:99:7694,6367,26276,0,16695,18749	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	0/2:484,131,172,0:787:99:.:.:5695,1689,21930,0,14012,18718,7162,21798,19414,27079	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	0/1:556,164,68,0:788:99:.:.:5230,0,22850,4045,20508,27184,6894,23346,27390,30237	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|1:561,229,0:790:99:0|1:1017440_C_T:7927,0,22867,9616,23556,33172:1017440	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	0/1:724,66,0:790:99:.:.:592,0,30097,2771,30296,33067	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|1:739,68,0:807:99:0|1:1017458_A_G:631,0,30826,2855,31030,33886:1017458	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|1:588,214,0:802:99:0|1:1017440_C_T:7216,0,24045,8986,24689,33675:1017440	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	0/1:689,83,0:804:99:.:.:1411,0,28681,3485,28931,32416	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	0/1:746,56,0:802:99:.:.:106,0,31156,2351,31324,33676	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	0/1:714,111,0:825:99:.:.:2503,0,29461,4652,29795,34447	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	0/1:485,128,87,109:809:99:.:.:3808,0,19365,1661,16176,21943,642,15295,17526,20878	0	0	7	3
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	0/1:532,299,0:831:99:.:.:10861,0,20345,12460,21246,33706	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	0/1:786,69,0:855:99:.:.:328,0,31643,2693,31851,34544	5	0	7	5
chr11	1017552	1017552	T	0	exonic	MUC6	.	.	.	.	.	0	77	100	0	49	149	0.393701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	9377.78	461	chr11	1017552	.	T	C,*	9377.78	.	AC=8,2;AF=0.235,0.059;AN=34;BaseQRankSum=-1.657e+00;DP=12232;ExcessHet=6.1002;FS=0.621;InbreedingCoeff=-0.4000;MLEAC=9,2;MLEAF=0.265,0.059;MQ=58.98;MQRankSum=1.86;QD=1.78;ReadPosRankSum=0.813;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:559,79,0:638:99:0|1:1017552_T_C:446,0,16732,2123,16966,19090:1017552	7	0	8	4
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:546,109,0:655:99:1|0:1017552_T_C:1573,0,16080,3210,16406,19616:1017552	7	0	9	3
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:637,109,0:746:99:.:.:1416,0,18728,3326,19055,22380	9	0	11	0
chr11	1017692	1017738	ATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5063_5109del:p.A1688Gfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16762.0	917	chr11	1017691	.	CATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	GATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG,C	16762.0	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-6.300e-02;DP=18038;ExcessHet=1.3000;FS=0.588;InbreedingCoeff=-0.3004;MLEAC=8,2;MLEAF=0.571,0.143;MQ=58.84;MQRankSum=-1.154e+01;QD=5.26;ReadPosRankSum=-2.329e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:702,156,0:858:99:.:.:2834,0,20528,4935,20996,25930	2	0	4	14
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E,	.	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.885	P	.	.	1.000	N	0.345	N	2.22	T	-1.093	T	0.035	T	0.087	0.677	7.621	-1.75	-0.596	-1.666	9.313	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	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	0.09524	7053.15	335	chr11	1017891	.	GCA	G,TCA	7053.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.652e+00;DP=9393;ExcessHet=0.6776;FS=3.414;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=56.21;MQRankSum=-1.089e+01;QD=3.00;ReadPosRankSum=-1.562e+00;SOR=1.070	GT:AD:DP:GQ:PL	0/1:592,82,78:752:99:1893,0,24563,119,21583,24701	17	0	3	0
chr11	1017892	1017892	C	0	exonic	MUC6	.	.	.	.	.	354	873	156	4	135	299	0.0858639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3030.61	335	chr11	1017892	.	C	*,G	3030.61	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-1.327e+00;DP=9322;ExcessHet=0.6776;FS=4.471;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=56.21;MQRankSum=-1.086e+01;QD=1.30;ReadPosRankSum=-1.667e+00;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:581,81,78:746:94:.:.:1684,0,24119,94,21136,24233	15	0	3	2
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	0/2:146,0,17:163:99:.:.:274,714,6844,0,6131,6079	5	0	5	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|1:6,163,0:169:99:1|1:1095948_C_G:4888,346,0,4906,484,5044:1095948	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|1:1,185,0,0:186:99:1|1:1095948_C_G:7012,542,0,7015,554,7027,7015,554,7027,7027:1095948	0	19	0	0
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	0/1:294,143,0:437:99:2819,0,11784,3704,12228,15932	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	0/1:206,143,2:351:99:.:.:3058,0,8371,4517,5917,17238	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	0/1:206,143,2:351:99:.:.:3058,0,8371,4517,5917,17238	1	0	17	1
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|1:294,143,0:437:99:0|1:1096194_GCACACA_*:4963,0,11716,5491,12545,19231:1096194	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|1:294,143,0:437:99:0|1:1096194_GCACACA_*:4963,0,11716,5491,12545,19231:1096194	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|1:294,143,0:437:99:0|1:1096194_GCACACA_*:4963,0,11716,5491,12545,19231:1096194	0	0	8	11
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	1/1:0,106,0:106:99:.:.:3224,317,0,3452,337,4132	0	19	0	0
chr11	1096829	1096897	GTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCAGCACCACCACCACA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0008	0.0001	0.0001	0.0004	0.0001	9.5e-05	0.0002	0.0001	0.0002	0.0001	0.0003	0.0003	0.0001	0.0004	9.941e-05	6.457e-05	0.0002	0.0004	0.0006	0	0.0008	0.0010	0	0	.	.	0	.	0	0	0	0	0	0.0010	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	107.94	33	chr11	1096828	.	GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCAGCACCACCACCACA	G	107.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=758;ExcessHet=0.0000;FS=5.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.68;MQRankSum=-2.458e+00;QD=4.69;ReadPosRankSum=-2.961e+00;SOR=2.437	GT:AD:DP:GQ:PL	0/1:18,5:23:99:122,0,583	20	0	1	0
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	0/2:18,0,5:23:99:122,175,784,0,609,583	4	8	2	6
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,28,0:137:99:0|1:1098716_A_G:847,0,4472,1175,4540,5716:1098716	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,21,0:130:99:0|1:1098716_A_G:553,0,4473,881,4515,5390:1098716	8	0	8	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|1:99,12,0:111:99:0|1:1098716_A_G:206,0,4080,504,4107,4607:1098716	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|2:97,5,12:114:99:0|1:1098716_A_G:212,294,4284,0,3800,3996:1098716	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|1:93,7,0:100:14:0|1:1098716_A_G:14,0,3829,294,3843,4138:1098716	7	0	4	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	1/1:0,248,0:248:99:.:.:7445,741,0,7445,741,7445	0	15	0	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|1:118,82,0:200:99:1|0:1630317_C_T:2658,0,4546,3013,4798,7811:1630317	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|1:118,82,0:200:99:1|0:1630317_C_T:2658,0,4546,3013,4798,7811:1630317	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	0|2:118,0,82:200:99:1|0:1630317_C_T:2658,3013,7811,0,4798,4546:1630317	3	3	5	0
chr11	2165311	2165311	C	T	exonic	TH	.	nonsynonymous SNV	TH:NM_000360:exon12:c.G1255A:p.V419M	Segawa syndrome, recessive, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	441420	not_provided|Autosomal_recessive_DOPA_responsive_dystonia|TH-related_disorder	MedGen:C3661900|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.945	P	0.41	B	0.000	D	1.000	N	2.71	M	-6.35	D	0.975	D	0.962	D	0.249	1.523	11.04	1.68	0.310	0.368	9.413	0.543	0.67808789092	0.0002	0.000399361	0.0003	0	0.0005	0	0.0008	0.0004	0	6.067e-05	0.0002652	41	154602	rs184106392	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	0.0003	0.0004	0.0033	2.519e-05	0.0008	0.0023	0.0002	0.0004	5.797e-05	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0005	0.0004	4.813e-05	0	0.0008	0.0029	0	0.0007	0	0.0003	0	0.0002	0.025	0.47320	D	0.094	0.52389	T	0.849	0.46879	P	0.33	0.42079	B	0.000007	0.62929	D	0.063348	0.99984	0.53665	D	2.77	0.80896	M	-6.35	0.99666	D	-2.16	0.48850	N	0.407	0.47301	0.975	0.96782	D	0.962	0.98783	D	10	0.16525722	0.30893	T	0.678088	0.97328	D	0.543	0.80960	.	.	0.903889715859	0.90293	0.5586178128385867	0.55788	0.740263202564	0.63223	0.339828282595	0.16412	T	0.888512	0.97716	D	-0.0659925	0.41965	T	-0.00460974	0.70036	D	0.0655731881956561	0.08016	T	0.889111	0.62170	D	0.5656577	0.70822	0.37036392	0.62287	0.5656577	0.70823	0.37036392	0.62287	-7.775	0.67903	D	0.20341262228783946	0.27082	0.119	0.25100	B	.;.;.;.	.;.;.;.	2.385035	0.30617	18.49	0.98992623658267909	0.49983	0.20752	0.21156	N	AEFDBI	0.228974	0.35257	N	-0.276225320197688	0.30068	1.673243	-0.425508214577846	0.24251	1.326986	0.232902467710108	0.18485	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	1.68	0.23219	0.650000	0.24544	0.668000	0.20568	0.549000	0.26987	0.018000	0.19461	0.135000	0.23037	0.468000	0.28296	0.0:0.8139:0.0:0.1861	9.413	0.37668	988	0.01987	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, 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	1876.98	41	chr11	2165311	.	C	T	1876.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=991;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.307;SOR=0.930	GT:AD:DP:GQ:PL	0/1:113,81:194:99:1891,0,2574	20	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	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	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/1:62,39,22:123:97:121,0,850,97,757,989	12	0	5	1
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32,	.	.	429	1053	39	1	0	41	0.0190964	.	.	3221646	OR52M1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	727.94	40	chr11	4545229	.	CT	C	727.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.992;DP=845;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.797;SOR=1.066	GT:AD:DP:GQ:PL	0/1:51,26:77:99:742,0,1675	20	0	1	0
chr11	4882085	4882085	T	G	exonic	OR51T1	.	stopgain	OR51T1:NM_001004759:exon1:c.T186G:p.Y62X,	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	D	.	.	.	.	.	.	.	.	.	2.804	15.34	1.36	0.461	0.497	7.583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190211627	6.157e-06	6.156e-06	2.723e-06	9.626e-06	0.0003	2.9e-06	2.1e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	5.396e-06	0	1.159e-05	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002493	0.36462	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.116	0.10483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505247	0.94449	D	0.503462	0.94693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.577893	0.95431	35	0.99209333249665266	0.55533	0.54801	0.29705	D	AEFDGBCIJ	0.382705	0.46449	N	0.0295762910108733	0.43204	2.617926	-0.224971901034509	0.30645	1.727183	0.999999992416393	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	1.36	0.21139	0.119000	0.15456	.	.	-0.186000	0.09761	0.004000	0.16614	0.942000	0.28804	0.966000	0.53164	0.0:0.6209:0.0:0.3791	7.583	0.27146	712	0.56465	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	4691.98	33	chr11	4882085	.	T	G	4691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.032e+00;DP=1061;ExcessHet=0.0000;FS=0.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.07;SOR=0.661	GT:AD:DP:GQ:PL	0/1:173,191:364:99:4706,0,4361	20	0	1	0
chr11	5058900	5058900	C	T	exonic	OR52E2	.	nonsynonymous SNV	OR52E2:NM_001005164:exon1:c.G728A:p.G243D,	.	.	431	1057	33	1	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.884	P	0.548	P	0.068	N	0.631	D	3.945	H	1.17	T	-0.187	T	0.218	T	0.63	3.221	16.79	3.76	2.425	-0.626	11.431	0.151	.	0.0019	0.00359425	0.0031	0.0004	0.0027	0.0002	0.0002	0.0020	0.0024	0.0173	0.0030465	471	154602	rs142926662	0.0027	0.0027	0.0023	0.0031	0.0135	0.0027	0.0026	0.0128	0.0125	0.0003	0.0015	4.177e-05	2.526e-05	0.0004	0.0107	0.0023	0.0030	0.0135	0.0019	0.0019	0.0018	0.0020	0.0122	0.0017	0.0017	0.0097	0.0088	0.0002	0.0329	0.0009	0	0.0004	0.0007	0.0068	0.0024	0.0033	0.0122	0.003	0.68238	D	0.007	0.69154	D	0.884	0.48618	P	0.548	0.49136	P	0.068202	0.21688	N	0.391294	0.630676	0.32787	D	3.8	0.95404	H	1.17	0.37910	T	-5.92	0.88963	D	0.502	0.53445	-0.1869	0.78006	T	0.218	0.58007	T	10	0.009021401	0.00204	T	.	.	.	0.151	0.39764	.	.	0.533997809139	0.53049	0.32957873882277433	0.32870	0.0286310186413	0.02943	0.286349862814	0.08393	T	0.009034	0.08254	T	-0.363408	0.03940	T	-0.283756	0.46419	T	0.141014442345015	0.16362	T	0.691931	0.30130	T	0.9309848	0.94335	0.9099854	0.95687	0.9309848	0.94336	0.9099854	0.95688	-10.19	0.75041	D	.	.	0.263	0.49797	B	.	.	3.935583	0.57556	23.9	0.99795717101936576	0.88106	0.40739	0.26503	N	AEFDBI	0.198955	0.32578	N	0.341345517541059	0.58282	3.999755	0.189773147210407	0.49285	3.133606	2.2993399908392E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.76	3.76	0.42368	-0.747000	0.04929	.	.	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.903000	0.43903	0.0:0.816:0.184:0.0	11.431	0.49282	854	0.34840	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1912.98	84	chr11	5058900	.	C	T	1912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.520e-01;DP=1949;ExcessHet=0.0000;FS=4.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.721e+00;SOR=1.054	GT:AD:DP:GQ:PL	0/1:78,76:154:99:1927,0,2034	20	0	1	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	0/1:161,48:209:99:295,0,5130	5	0	11	5
chr11	5515156	5515156	A	T	exonic	UBQLNL	.	nonsynonymous SNV	UBQLNL:NM_145053:exon1:c.T1286A:p.M429K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.981	D	0.69	P	0.206	N	1.000	D	2.11	M	0.19	T	-0.413	T	0.271	T	0.77	2.500	14.32	5.3	2.203	3.092	11.551	0.366	0.0132203811705	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs147713756	1.915e-05	1.915e-05	2.042e-05	1.788e-05	2.987e-05	1.328e-05	1.144e-05	1.543e-05	1.304e-05	2.987e-05	0	0	0	0	0	2.248e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	0.981	0.59675	D	0.69	0.53781	P	0.206353	0.16473	N	0.582587	1	0.81001	D	0.975	0.24501	L	0.19	0.60236	T	-4.3	0.76496	D	0.69	0.69562	-0.4126	0.71627	T	0.271	0.64277	T	10	0.86441267	0.85678	D	0.01322	0.32452	T	0.366	0.68582	0.697	0.83406	0.546521485473	0.54306	0.4645939818431114	0.46378	0.04939066039	0.05411	0.399436503649	0.24989	T	0.133972	0.46496	T	0.0533928	0.58778	T	-0.0534243	0.66788	D	0.838354587554932	0.49193	D	0.426357	0.11459	T	0.858052	0.87938	0.8603351	0.92202	0.858052	0.87940	0.8603351	0.92202	-4.708	0.33501	T	.	.	0.291	0.52227	B	.	.	3.719795	0.53147	23.3	0.97539328728759933	0.34501	0.51869	0.28997	D	AEFBI	0.252153	0.37189	N	0.27347717007461	0.54807	3.645605	0.189308229482868	0.49261	3.131358	0.99882067875289	0.37755	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.3	5.3	0.74745	4.837000	0.62487	.	.	0.756000	0.94297	0.522000	0.27127	0.846000	0.27345	0.590000	0.31140	1.0:0.0:0.0:0.0	11.551	0.49974	692	0.58729	.	.	.	.	.	.	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	1114.98	39	chr11	5515156	.	A	T	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=819;ExcessHet=0.0000;FS=1.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=0.878;SOR=0.540	GT:AD:DP:GQ:PL	0/1:69,44:113:99:1129,0,1747	20	0	1	0
chr11	5755696	5755696	A	G	exonic	OR52N4	.	nonsynonymous SNV	OR52N4:NM_001005175:exon1:c.A956G:p.Y319C,	.	.	436	1080	5	1	0	7	0.00323027	.	.	738034	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.662	P	0.379	B	0.553	N	0.973	N	0.345	N	7.05	T	-0.795	T	0.001	T	0.204	2.169	13.21	3.84	0.902	3.065	7.905	0.101	.	0.0037	0.000998403	0.0048	0.0007	0.0007	0	0.0168	0.0058	0.0091	0.0035	0.0044243	684	154602	rs190757899	0.0048	0.0048	0.0048	0.0048	0.0049	0.0047	0.0046	0.0048	0.0047	0.0007	0.0012	0.0008	2.524e-05	0.0176	0.0019	0.0049	0.0040	0.0030	0.0044	0.0044	0.0036	0.0051	0.0055	0.0041	0.0040	0.0051	0.0049	0.0005	0	0.0014	0.0003	0	0.0208	0.0102	0.0055	0.0038	0.0025	0.024	0.47745	D	0.104	0.38160	T	0.662	0.40950	P	0.379	0.43814	B	0.552505	0.11421	N	0.710561	0.973399	0.25549	N	0.345	0.11182	N	7.05	0.00450	T	-0.41	0.14000	N	0.191	0.20925	-0.7955	0.55409	T	0.001	0.00287	T	10	0.0057881773	0.00129	T	.	.	.	0.101	0.28911	.	.	0.411799315854	0.40795	0.0732672878192749	0.07263	0.0440490187585	0.04745	0.319773375988	0.13386	T	0.002252	0.01652	T	-0.575589	0.00205	T	-0.594021	0.13320	T	0.0468497612821979	0.04939	T	0.457454	0.13149	T	0.08625621	0.20042	0.08335506	0.19095	0.08625621	0.20042	0.08335506	0.19094	-3.873	0.21898	T	.	.	0.056	0.00553	B	.;.	.;.	2.438801	0.31384	18.73	0.95626070192555046	0.27401	0.40547	0.26461	N	AEFI	0.099162	0.19968	N	-0.394587736496231	0.25660	1.394655	-0.441556345654211	0.23788	1.299172	3.25734905031521E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	3.84	0.43422	3.016000	0.49294	.	.	0.740000	0.86194	0.144000	0.23566	0.000000	0.08366	0.011000	0.09372	0.8171:0.0:0.0:0.1829	7.905	0.28921	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1154.98	42	chr11	5755696	.	A	G	1154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.277e+00;DP=904;ExcessHet=0.0000;FS=10.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=9.000e-03;SOR=0.170	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1169,0,1084	20	0	1	0
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	1/2:0,50,37,0,0,0:87:99:.:.:2735,1499,1693,1351,0,1803,2867,1693,1711,3278,2867,1693,1711,3278,3278,2867,1693,1711,3278,3278,3278	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	1/2:0,50,37,0,0,0:87:99:.:.:2735,1499,1693,1351,0,1803,2867,1693,1711,3278,2867,1693,1711,3278,3278,2867,1693,1711,3278,3278,3278	0	5	0	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	0/1:66,31:97:99:.:.:111,0,951	7	0	10	4
chr11	6794951	6794951	A	G	exonic	OR6A2	.	nonsynonymous SNV	OR6A2:NM_003696:exon1:c.T758C:p.V253A,	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.819	P	0.429	B	0.000	D	1.000	N	3.2	M	7.84	T	-1.011	T	0.001	T	0.634	3.387	17.43	5.07	2.265	3.779	13.121	0.149	0.00410013057546	0.0025	0.00139776	0.0009	0.0070	0.0003	0	0	0.0001	0	0.0013	0.0008215	127	154602	rs114528778	0.0004	0.0004	0.0004	0.0004	0.0084	0.0004	0.0004	0.0076	0.0073	0.0084	0.0003	0.0003	2.519e-05	0	0.0014	8.184e-05	0.0009	0.0013	0.0023	0.0023	0.0024	0.0023	0.0078	0.0021	0.0020	0.0071	0.0068	0.0078	0	0.0005	0.0009	0	0	0	0.0001	0.0019	0.0012	0.005	0.63226	D	0.006	0.70582	D	0.819	0.45682	P	0.429	0.45365	B	0.000122	0.49741	D	0.000000	0.999934	0.19363	N	3.215	0.89331	M	7.84	0.00333	T	-3.64	0.69835	D	0.473	0.50868	-1.0114	0.26478	T	0.001	0.00438	T	10	0.0052567124	0.00115	T	0.004	0.09806	T	0.149	0.39377	.	.	0.367612772649	0.36367	0.2741561364845022	0.27328	0.00738871656898	0.00648	0.447486013174	0.31601	T	0.017272	0.14121	T	-0.382232	0.03016	T	-0.315994	0.43012	T	0.10390255810276	0.12781	T	0.848615	0.53011	T	0.5361222	0.69178	0.52666247	0.72652	0.5361222	0.69179	0.52666247	0.72653	-8.975	0.67536	D	.	.	0.425	0.61892	A	.;.	.;.	2.827915	0.37270	20.5	0.99802319803694062	0.88728	0.60596	0.31240	D	AEFHCI	0.226378	0.35034	N	0.314426019975965	0.56888	3.854391	0.232622405147015	0.51667	3.347205	0.0648856824208523	0.15343	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	3.235000	0.51027	8.989000	0.78507	0.756000	0.94297	0.043000	0.21118	1.000000	0.68203	0.908000	0.44358	1.0:0.0:0.0:0.0	13.121	0.58741	539	0.73055	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	0.02381	1524.98	35	chr11	6794951	.	A	G	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.884;DP=868;ExcessHet=0.0000;FS=3.234;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-6.180e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1539,0,1708	20	0	1	0
chr11	6892050	6892050	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A451G:p.S151G,	.	.	434	1057	31	0	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.784	P	0.527	P	0.000	D	0.997	N	0.89	L	1.24	T	-1.062	T	0.056	T	0.156	2.054	12.83	5.12	2.291	0.025	8.541	0.093	0.003817604036	0.0042	0.00179712	0.0040	0.0011	0.0033	0.0001	0.0020	0.0048	0.0055	0.0059	0.0038357	593	154602	rs74917712	0.0047	0.0047	0.0046	0.0048	0.0134	0.0046	0.0046	0.0110	0.0101	0.0008	0.0039	0.0093	2.519e-05	0.0019	0.0134	0.0049	0.0049	0.0062	0.0039	0.0039	0.0038	0.0040	0.0061	0.0036	0.0035	0.0051	0.0048	0.0010	0	0.0061	0.0104	0.0004	0.0018	0.0034	0.0053	0.0061	0.0050	0.132	0.26519	T	0.271	0.22291	T	0.784	0.44396	P	0.527	0.48453	P	0.000019	0.62929	D	0.000000	0.996695	0.22933	N	1	0.25136	L	1.24	0.36691	T	-3.59	0.69236	D	0.09	0.06854	-1.0621	0.11239	T	0.056	0.23677	T	10	0.009351373	0.00211	T	0.003818	0.08930	T	0.093	0.26882	.	.	0.667396578862	0.66459	0.22614904341023914	0.22529	0.0160720979478	0.01538	0.267553925514	0.05824	T	0.007197	0.06615	T	-0.551367	0.00286	T	-0.562996	0.16097	T	0.0497815433916849	0.05462	T	0.60064	0.22426	T	0.36737594	0.58390	0.2915325	0.55178	0.36737594	0.58390	0.2915325	0.55177	-4.217	0.26997	T	.	.	0.072	0.04316	B	.	.	2.830404	0.37313	20.5	0.99226097246895772	0.56057	0.10633	0.16084	N	AEFGBI	0.062217	0.11946	N	-0.0295373959221345	0.40522	2.407833	0.00228593108559329	0.39823	2.367003	0.0155712046616577	0.12730	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	0.196000	0.16979	0.182000	0.15643	0.646000	0.52725	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1719:0.0:0.0:0.8281	8.541	0.32551	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6005.68	44	chr11	6892050	.	T	C	6005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.734e+00;DP=1982;ExcessHet=0.3300;FS=0.519;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.592;SOR=0.745	GT:AD:DP:GQ:PL	0/1:107,96:203:99:2520,0,2906	18	0	3	0
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	0|4:31,0,0,0,30,0,0:61:99:0|1:12294797_G_GCTCCTCCTCCTC:1153,1255,2544,1255,2544,2544,1255,2544,2544,2544,0,1290,1290,1290,1199,1255,2544,2544,2544,1290,2544,1255,2544,2544,2544,1290,2544,2544:12294797	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	0|4:31,0,0,0,30,0,0:61:99:0|1:12294797_G_GCTCCTCCTCCTC:1153,1255,2544,1255,2544,2544,1255,2544,2544,2544,0,1290,1290,1290,1199,1255,2544,2544,2544,1290,2544,1255,2544,2544,2544,1290,2544,2544:12294797	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	0|4:31,0,0,0,30,0,0:61:99:0|1:12294797_G_GCTCCTCCTCCTC:1153,1255,2544,1255,2544,2544,1255,2544,2544,2544,0,1290,1290,1290,1199,1255,2544,2544,2544,1290,2544,1255,2544,2544,2544,1290,2544,2544:12294797	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	0|4:31,0,0,0,30,0,0:61:99:0|1:12294797_G_GCTCCTCCTCCTC:1153,1255,2544,1255,2544,2544,1255,2544,2544,2544,0,1290,1290,1290,1199,1255,2544,2544,2544,1290,2544,1255,2544,2544,2544,1290,2544,2544:12294797	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	0|4:31,0,0,0,30,0,0:61:99:0|1:12294797_G_GCTCCTCCTCCTC:1153,1255,2544,1255,2544,2544,1255,2544,2544,2544,0,1290,1290,1290,1199,1255,2544,2544,2544,1290,2544,1255,2544,2544,2544,1290,2544,2544:12294797	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	0|4:31,0,0,0,30,0,0:61:99:0|1:12294797_G_GCTCCTCCTCCTC:1153,1255,2544,1255,2544,2544,1255,2544,2544,2544,0,1290,1290,1290,1199,1255,2544,2544,2544,1290,2544,1255,2544,2544,2544,1290,2544,2544:12294797	6	0	4	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,38,0:86:99:1|0:12294797_G_GCTCCTCCTCCTC:990,0,1615,1061,1743,2928:12294797	6	2	6	4
chr11	17593203	17593203	A	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon25:c.A3053T:p.D1018V	Deafness, autosomal recessive 18B, Autosomal recessive	.	7	1513	2	0	0	2	0.000660502	.	.	497378	not_specified|OTOG-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.893	P	0.544	P	0.074	N	1.000	N	2.015	M	0.22	T	-0.777	T	0.209	T	0.432	1.814	12.02	5.13	2.143	1.959	6.489	0.325	0.080900159215	.	0.000399361	0.0003	0	0.0035	0	0	0	0.0053	0.0004	4.53e-05	7	154602	rs551850126	0.0001	0.0001	9.599e-05	0.0002	0.0032	0.0001	0.0001	0.0027	0.0025	0	0	0	0.0032	0	0	6.49e-06	0.0001	0.0007	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	0.0001	0.0029	0.0024	0	0	0	0	0.0042	0	0	0	0	0.0015	0.004	0.65419	D	0.02	0.58613	D	.	.	.	.	.	.	0.073973	0.21313	N	0.413240	0.999914	0.20048	N	2.195	0.61839	M	0.22	0.59851	T	-5.61	0.86686	D	0.31	0.34981	-0.7767	0.56487	T	0.209	0.56919	T	10	0.017776072	0.00382	T	0.081	0.73563	D	0.325	0.64725	0.698	0.83499	0.599642478305	0.59644	0.5440251296040252	0.54328	.	.	0.321005016565	0.13574	T	0.21291	0.57408	T	-0.375685	0.03316	T	-0.311606	0.43486	T	0.114034907326935	0.13836	T	0.80032	0.44603	T	0.22934237	0.45670	0.3539208	0.60945	0.23432253	0.46251	0.2280202	0.47829	-7.82	0.59837	D	.	.	0.120	0.24833	B	.;.	.;.	1.975105	0.25092	16.64	0.93083476671009191	0.22704	0.27128	0.23190	N	AEFDBI	0.216009	0.34130	N	-0.07413982348203	0.38529	2.258038	-0.204053541072322	0.31390	1.776038	0.0582356116081893	0.15120	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	1.860000	0.39068	9.309000	0.79942	0.756000	0.94297	0.026000	0.20160	1.000000	0.68203	0.146000	0.20164	0.5951:0.2718:0.0:0.1332	6.489	0.21303	802	0.44336	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1738.98	35	chr11	17593203	.	A	T	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.805e+00;DP=835;ExcessHet=0.0000;FS=0.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.792;SOR=0.772	GT:AD:DP:GQ:PL	0/1:61,75:136:99:1753,0,1572	20	0	1	0
chr11	18006653	18006653	G	C	exonic	SERGEF	.	nonsynonymous SNV	SERGEF:NM_012139:exon3:c.C290G:p.S97C,	.	.	428	1076	18	0	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.706	P	0.282	N	1.000	D	1.555	L	-1.44	T	-0.035	T	0.507	D	0.546	3.575	18.22	5.15	1.555	1.459	12.467	0.520	0.045683071934	0.0002	0.000599042	0.0010	0	0.0002	0	0	8.995e-05	0.0033	0.0069	0.0008344	129	154602	rs368889802	0.0005	0.0005	0.0003	0.0007	0.0069	0.0004	0.0004	0.0065	0.0063	0	2.236e-05	0	0	0	0.0010	4.676e-05	0.0006	0.0069	0.0002	0.0002	6.425e-05	0.0003	0.0046	0.0001	9.698e-05	0.0031	0.0026	0	0	0	0	0	0	0	4.41e-05	0	0.0046	0.194	0.21968	T	0.176	0.30926	T	0.995	0.67487	D	0.706	0.54345	P	0.282201	0.14924	N	0.703897	1	0.81001	D	2.36	0.67893	M	-1.44	0.80815	T	-1.82	0.42957	N	0.497	0.53006	-0.0353	0.81519	T	0.507	0.81464	D	10	0.011652917	0.00254	T	0.045683	0.62099	D	0.520	0.79583	.	.	0.821898614301	0.82022	0.5395635485454993	0.53881	0.585799155642	0.54207	0.382282555103	0.22581	T	0.281386	0.65411	T	-0.262316	0.12630	T	-0.14529	0.59658	T	0.0920561014578816	0.11459	T	0.773923	0.40554	T	0.11058673	0.26138	0.08389478	0.19260	0.11058673	0.26138	0.08389478	0.19260	-8.945	0.67342	D	.	.	0.089	0.21049	B	.;.	.;.	3.910147	0.57021	23.8	0.98182282533156762	0.38958	0.79769	0.39593	D	AEFBI	0.188162	0.31545	N	0.366684513315024	0.59625	4.143584	0.378180577250926	0.60221	4.207421	0.999999542270888	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645948	0.59608	0	.	.	6.06	5.15	0.70287	1.779000	0.38254	5.595000	0.49008	0.676000	0.76740	0.891000	0.31220	0.992000	0.31684	0.991000	0.66497	0.0782:0.0:0.9218:0.0	12.467	0.55106	538	0.73119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2455.11	34	chr11	18006653	.	G	C	2455.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=866;ExcessHet=0.1072;FS=0.531;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-1.550e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1185,0,1125	19	0	2	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	0/1:48,44:92:99:1208,0,1333	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	0/3:12,0,5,19:39:99:373,421,657,316,592,744,0,225,190,149	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	0/3:12,0,5,19:39:99:373,421,657,316,592,744,0,225,190,149	0	0	0	0
chr11	32613442	32613442	A	C	exonic	CCDC73	.	nonsynonymous SNV	CCDC73:NM_001008391:exon16:c.T2876G:p.V959G,	.	.	437	1072	12	1	0	14	0.00648749	.	.	2816550	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.003	B	0.032	N	1.000	N	0	N	.	.	-1.049	T	0.023	T	0.193	0.683	7.651	-10.7	-2.993	-1.085	2.231	0.030	.	0.0025	0.00319489	0.0027	0.0003	0.0016	0	0.0005	0.0026	0.0034	0.0076	0.0026843	415	154602	rs117521878	0.0031	0.0031	0.0029	0.0033	0.0076	0.0030	0.0030	0.0067	0.0065	0.0006	0.0020	0.0001	0	0.0003	0.0076	0.0032	0.0030	0.0072	0.0026	0.0026	0.0027	0.0024	0.0085	0.0024	0.0023	0.0064	0.0057	0.0008	0	0.0050	0	0	0.0004	0.0068	0.0033	0.0052	0.0085	0.164	0.23360	T	0.086	0.40909	T	0.001	0.07471	B	0.003	0.08700	B	0.031593	0.01739	N	2.368670	1	0.08975	N	0.49	0.13296	N	.	.	.	-0.9	0.24244	N	0.111	0.09772	-1.0490	0.14677	T	0.023	0.09832	T	9	0.0032474399	0.00055	T	.	.	.	0.030	0.07022	.	.	0.166414681773	0.16258	0.0870446707294707	0.08638	0.14572603908	0.16455	0.254727810621	0.04282	T	0.007058	0.06479	T	-0.578454	0.00197	T	-0.599681	0.12839	T	0.00588556930897067	0.00065	T	0.164684	0.01513	T	0.054375637	0.10424	0.037919555	0.03546	0.054375637	0.10424	0.037919555	0.03546	-3.911	0.22467	T	.	.	0.094	0.14385	B	.	.	-0.937552	0.00865	0.031	0.59534308735025521	0.06247	0.04986	0.10758	N	AEFCI	0.064909	0.12630	N	-1.64566071240721	0.01054	0.04570865	-1.76305215790034	0.00885	0.03955443	0.999999996449416	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.34	-10.7	0.00191	-1.218000	0.03086	0.010000	0.13426	-0.112000	0.15009	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1232:0.3684:0.193:0.3154	2.231	0.03751	383	0.83590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1190.98	35	chr11	32613442	.	A	C	1190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.380e-01;DP=812;ExcessHet=0.0000;FS=2.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=-1.243e+00;SOR=0.963	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1205,0,1863	20	0	1	0
chr11	32613532	32613532	G	A	exonic	CCDC73	.	nonsynonymous SNV	CCDC73:NM_001008391:exon16:c.C2786T:p.S929F,	.	.	435	1072	14	1	0	16	0.00740741	.	.	2816551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.534	P	0.118	B	0.099	N	0.737	N	0	N	.	.	-1.069	T	0.032	T	0.204	1.202	9.883	4.19	1.067	4.415	10.671	0.095	.	0.0024	0.00319489	0.0027	0.0003	0.0016	0	0.0005	0.0026	0.0033	0.0075	0.0026714	413	154602	rs149853604	0.0031	0.0031	0.0029	0.0033	0.0078	0.0030	0.0030	0.0068	0.0066	0.0006	0.0020	0.0001	0	0.0002	0.0078	0.0032	0.0030	0.0072	0.0025	0.0026	0.0027	0.0024	0.0085	0.0023	0.0023	0.0064	0.0057	0.0008	0	0.0050	0	0	0.0003	0.0068	0.0033	0.0052	0.0085	0.004	0.65419	D	0.005	0.72224	D	0.534	0.37787	P	0.118	0.32088	B	0.098980	0.19956	N	0.493717	1	0.08975	N	0.69	0.16971	N	.	.	.	-1.34	0.33401	N	0.269	0.30461	-1.0687	0.09701	T	0.032	0.13723	T	9	0.0036777854	0.00067	T	.	.	.	0.095	0.27398	.	.	0.0551355673512	0.04727	0.12016079996269702	0.11943	0.219812940165	0.24518	0.249660089612	0.03732	T	0.049307	0.28270	T	-0.456292	0.01036	T	-0.424343	0.30579	T	0.023110020169459	0.01037	T	0.682432	0.29103	T	0.11256051	0.26591	0.14710388	0.34826	0.11256051	0.26591	0.14710388	0.34825	-7.572	0.58115	D	.	.	0.153	0.33958	B	.	.	3.185315	0.43259	21.7	0.99222949804136629	0.55963	0.59657	0.30976	D	AEFHCI	0.377192	0.46105	N	-0.286839970934702	0.29656	1.646502	-0.221870598775871	0.30754	1.734314	0.998008673484155	0.36301	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.19	0.48645	4.887000	0.62848	7.596000	0.61403	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.940000	0.48062	0.0995:0.0:0.9005:0.0	10.671	0.44955	380	0.83728	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1586.98	35	chr11	32613532	.	G	A	1586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=847;ExcessHet=0.0000;FS=5.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.804;SOR=0.964	GT:AD:DP:GQ:PL	0/1:92,68:160:99:1601,0,2215	20	0	1	0
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|1:54,37:91:99:0|1:33085952_T_C:583,0,1376:33085952	1	0	5	15
chr11	47175270	47175270	T	C	exonic	ARFGAP2	.	nonsynonymous SNV	ARFGAP2:NM_001242832:exon4:c.A308G:p.N103S	.	.	435	1083	3	1	0	5	0.00230309	.	.	3202163	ARFGAP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.204	B	0.066	B	0.000	D	1.000	D	1.16	L	3.28	T	-1.081	T	0.078	T	0.139	2.625	14.74	4.4	0.936	5.964	9.296	0.049	0.0181558379529	0.0012	0.000599042	0.0015	0.0003	0.0012	0	0.0009	0.0019	0	0.0021	0.0015977	247	154602	rs117324352	0.0021	0.0021	0.0021	0.0021	0.0023	0.0020	0.0020	0.0022	0.0022	0.0005	0.0015	0.0051	0	0.0009	0.0009	0.0023	0.0022	0.0019	0.0013	0.0013	0.0014	0.0012	0.0019	0.0012	0.0011	0.0017	0.0016	0.0004	0	0.0011	0.0061	0	0.0005	0	0.0019	0.0019	0.0015	0.03	0.45393	D	0.217	0.35455	T	0.011	0.15914	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	0.999992	0.81001	D	1.33	0.33268	L	1.07	0.41058	T	-2.81	0.63207	D	0.353	0.40465	-1.0812	0.07118	T	0.078	0.31133	T	10	0.00812155	0.00184	T	0.018156	0.40130	T	0.049	0.13647	.	.	0.323442020237	0.31956	0.20209940522075892	0.20126	0.179791030076	0.20224	0.495188951492	0.38157	T	0.090981	0.38699	T	-0.488293	0.00664	T	-0.480343	0.24409	T	0.0301598956095464	0.02015	T	0.951905	0.81545	D	0.38238308	0.59489	0.24581955	0.50078	0.38238308	0.59489	0.24581955	0.50077	-7.044	0.54354	T	.	.	0.068	0.07650	B	.;.;.;.;.;.	.;.;.;.;.;.	3.761997	0.53988	23.4	0.97620172986782461	0.34960	0.94813	0.62418	D	AEFGBCI	0.734419	0.68055	D	-0.0722769903866548	0.38611	2.264109	0.0890109020600232	0.43994	2.689839	0.99999987127358	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.52	4.4	0.52402	5.942000	0.69916	3.512000	0.38846	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.1441:0.0:0.8559	9.296	0.36980	26	0.98304	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein	.	.	.	.	.	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	772.98	35	chr11	47175270	.	T	C	772.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.724;DP=756;ExcessHet=0.0000;FS=3.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.358;SOR=1.118	GT:AD:DP:GQ:PL	0/1:39,32:71:99:787,0,946	20	0	1	0
chr11	47980978	47980980	GCT	-	exonic	PTPRJ	.	nonframeshift deletion	PTPRJ:NM_001098503:exon1:c.66_68del:p.L28del	Colon cancer, somatic	.	322	1192	8	0	0	8	0.00334448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	0	3.84e-05	1	26028	rs747484779	0.0005	0.0063	0.0004	0.0005	0.0020	0.0004	0.0004	0.0012	0.0010	0.0006	0.0020	0.0013	0.0013	0.0014	0.0011	0.0004	0.0007	0.0004	5.448e-05	0.0002	5.308e-05	5.596e-05	0.0004	2.639e-05	1.889e-05	7.424e-05	3.079e-05	4.938e-05	0	6.709e-05	0	0.0004	0.0001	0	3.015e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	126.25	5	chr11	47980977	.	CGCT	C	126.25	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.660e-01;DP=144;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0843;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.967;SOR=0.495	GT:AD:DP:GQ:PL	0/1:1,2:3:30:81,0,30	19	0	2	0
chr11	48325134	48325134	G	T	exonic	OR4C3	.	nonsynonymous SNV	OR4C3:NM_001004702:exon1:c.G113T:p.C38F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.0	B	0.0	B	0.988	N	1.000	N	-0.515	N	7.38	T	-0.996	T	0.001	T	0.197	1.233	9.998	-0.006	0.366	0.484	10.336	0.062	0.00203501191793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.988182	0.07885	N	1.006700	1	0.08975	N	-0.205	0.04094	N	.	.	.	.	.	.	.	.	-0.9959	0.31055	T	0.001	0.00222	T	10	0.10815245	0.20120	T	0.002035	0.03695	T	0.062	0.17934	0.368	0.37687	0.0297737177859	0.01360	0.15088954134826085	0.15010	.	.	0.272381722927	0.06454	T	0.006964	0.06384	T	-0.313789	0.07419	T	-0.688512	0.06476	T	0.0346704241757854	0.02752	T	0.59564	0.22935	T	0.07087094	0.15646	0.15276611	0.35927	0.07087094	0.15646	0.15276611	0.35926	-2.908	0.09223	T	.	.	0.076	0.09530	B	.;.	.;.	0.256508	0.06355	2.816	0.89155257924785769	0.18557	0.02520	0.07022	N	AEFDI	0.032196	0.03589	N	-0.904975036333668	0.10724	0.5139144	-0.8211901409002	0.13982	0.7282579	1.47688647240769E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.88	-0.00616	0.13338	0.715000	0.25493	.	.	-0.267000	0.06790	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1117:0.3472:0.5411	10.336	0.43030	120	0.95183	.;.	.	.	.	.	.	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	273.98	34	chr11	48325134	.	G	T	273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.962e+00;DP=823;ExcessHet=0.0000;FS=67.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.11;ReadPosRankSum=3.16;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,17:130:99:0|1:48325134_G_T:288,0,4467:48325134	20	0	1	0
chr11	48325136	48325136	G	T	exonic	OR4C3	.	nonsynonymous SNV	OR4C3:NM_001004702:exon1:c.G115T:p.G39C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.993	D	0.963	D	0.004	N	0.726	D	4.08	H	3.62	T	-0.659	T	0.090	T	0.496	3.892	19.78	5.88	2.829	2.581	13.470	0.202	0.00762967362043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	0.65571	D	0.963	0.70837	D	0.004400	0.33795	N	0.135551	0.726055	0.33668	D	3.325	0.90780	M	.	.	.	.	.	.	.	.	-0.6588	0.62329	T	0.090	0.34601	T	10	0.7379098	0.74750	D	0.00763	0.20246	T	0.202	0.48754	0.812	0.92788	0.137902524267	0.13322	0.3695892951469525	0.36872	.	.	0.358589351177	0.19180	T	0.11336	0.43034	T	-0.0959298	0.37096	T	-0.375573	0.36240	T	0.993962824344635	0.84996	D	0.852615	0.53799	D	0.16444537	0.36653	0.13581161	0.32507	0.16444537	0.36653	0.13581161	0.32506	-10.742	0.78224	D	.	.	0.216	0.48479	B	.;.	.;.	3.085844	0.41532	21.4	0.996636946402638	0.78138	0.44928	0.27426	N	AEFDI	0.244813	0.36585	N	0.720050453314793	0.80945	7.408589	0.584784929766581	0.73849	6.038173	0.309006433027718	0.19267	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	1.922000	0.39675	.	.	0.542000	0.25261	0.020000	0.19661	1.000000	0.68203	0.001000	0.02609	0.0:0.1568:0.8432:0.0	13.470	0.60731	120	0.95183	GPCR, rhodopsin-like, 7TM;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	273.98	34	chr11	48325136	.	G	T	273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.335e+00;DP=822;ExcessHet=0.0000;FS=67.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.11;ReadPosRankSum=3.13;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,17:130:99:0|1:48325134_G_T:288,0,4467:48325134	20	0	1	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|2:215,0,73:288:99:0|1:56375918_A_G:2410,3058,12077,0,9020,8800:56375918	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|2:215,0,73:288:99:0|1:56375918_A_G:2410,3058,12077,0,9020,8800:56375918	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|2:215,0,73:288:99:0|1:56375918_A_G:2410,3058,12077,0,9020,8800:56375918	1	0	3	1
chr11	58031031	58031031	C	T	exonic	OR6Q1	.	nonsynonymous SNV	OR6Q1:NM_001005186:exon1:c.C79T:p.L27F,	.	.	434	1083	3	2	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.027	B	0.024	B	0.694	N	1.000	N	1.175	L	7.31	T	-0.975	T	0.001	T	0.12	-1.628	0.013	-1.88	-0.306	-2.053	2.089	0.014	0.00363523503977	0.0016	0.000998403	0.0011	0.0002	0.0003	0	0	0.0017	0.0011	0.0010	0.0010284	159	154602	rs75126969	0.0011	0.0011	0.0010	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0003	0.0005	0.0023	2.519e-05	1.872e-05	0.0043	0.0011	0.0009	0.0014	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0002	0.0017	0.0002	0	0.0136	0.0015	0.0019	0.0008	0.601	0.05618	T	.	.	.	0.027	0.19556	B	0.024	0.20255	B	0.694460	0.06165	N	1.246920	1	0.08975	N	1.435	0.35949	L	7.31	0.00421	T	-0.81	0.22294	N	0.042	0.01498	-0.9746	0.36213	T	0.001	0.00255	T	10	0.009417981	0.00213	T	0.003635	0.08340	T	0.014	0.01968	.	.	0.0551355673512	0.04727	0.07002682569971383	0.06939	0.0351969744891	0.03713	0.197341561317	0.00384	T	0.011654	0.10368	T	-0.668838	0.00056	T	-0.763595	0.02985	T	0.00109979949434447	0.00011	T	0.170983	0.01619	T	0.05155552	0.09486	0.052616816	0.08704	0.05155552	0.09486	0.052616816	0.08703	-4.71	0.33525	T	.	.	0.085	0.09965	B	.	.	-0.444490	0.02052	0.187	0.32540684684743304	0.01891	0.05065	0.10857	N	AEFBI	0.060685	0.11551	N	-1.35541503854306	0.03070	0.1365301	-1.39477615941573	0.03307	0.1540123	0.00286400637471297	0.09760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.32	-1.88	0.07294	-1.792000	0.01853	-4.040000	0.02377	-1.122000	0.01471	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.123:0.3624:0.1205:0.3941	2.089	0.03431	421	0.81399	.	.	.	.	.	.	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	2664.98	33	chr11	58031031	.	C	T	2664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.30;SOR=0.677	GT:AD:DP:GQ:PL	0/1:94,104:198:99:2679,0,2042	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|1:75,38:113:99:0|1:61740527_G_C:639,0,2107:61740527	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|1:75,38:113:99:0|1:61740527_G_C:639,0,2118:61740527	0	0	21	0
chr11	62522773	62522773	G	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C11644G:p.L3882V	.	.	428	1089	5	0	0	5	0.00229043	.	.	768508	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.981	D	0.955	D	0.006	N	1.000	D	2.105	M	4.11	T	-1.013	T	0.025	T	0.347	0.163	4.878	3.27	0.976	-1.002	10.154	0.137	0.0123438716542	7.7e-05	0.000399361	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0011	0.0003622	56	154602	rs201212781	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	5.974e-05	0	0.0042	0	3.744e-05	0.0024	0.0001	0.0005	0.0013	0.0003	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0005	0.0004	2.421e-05	0	6.578e-05	0.0043	0	0	0.0034	0.0002	0.0005	0.0013	0.248	0.17239	T	0.16	0.31427	T	0.981	0.59675	D	0.955	0.69585	D	0.005641	0.32621	N	0.000000	0.857409	0.81001	D	1.7	0.43825	L	4.11	0.02916	T	-1.01	0.26639	N	0.114	0.10198	-1.0128	0.26038	T	0.025	0.10553	T	10	0.008676857	0.00196	T	0.012344	0.30825	T	0.137	0.36984	.	.	0.259272394797	0.25527	0.04385794924564063	0.04329	0.207640745802	0.23226	0.293400704861	0.09420	T	0.129719	0.45817	T	-0.505341	0.00533	T	-0.544216	0.17884	T	0.0655137225985527	0.08007	T	0.907009	0.67171	D	0.037599526	0.04850	0.032087598	0.01891	0.037599526	0.04849	0.032087598	0.01891	-7.806	0.59740	D	.	.	0.098	0.16275	B	.	.	0.308610	0.06837	3.366	0.93675002302562027	0.23572	0.30003	0.23970	N	AEFBI	.	.	.	-0.319810837621017	0.28397	1.565894	-0.511548005588858	0.21839	1.183352	0.448243728380017	0.20516	0.736574	0.97449	0	0.732669	0.95671	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	3.27	0.36580	-1.490000	0.02409	.	.	-0.285000	0.06363	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0956:0.0:0.9044:0.0	10.154	0.41989	231	0.90996	.	.	.	.	.	.	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	6490.98	46	chr11	62522773	.	G	C	6490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.660e-01;DP=1722;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.90;MQRankSum=-4.210e-01;QD=12.75;ReadPosRankSum=-1.714e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/1:239,270:509:99:6505,0,5739	20	0	1	0
chr11	62531839	62531839	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G2578A:p.D860N	.	.	436	1081	5	0	0	5	0.00230734	.	.	768512	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.995	D	0.91	D	0.000	D	1.000	D	2.935	M	5.03	T	-0.992	T	0.024	T	0.161	2.539	14.45	5.16	2.580	2.596	18.612	0.170	0.0154652397095	7.7e-05	0.000399361	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0011	0.0003687	57	154602	rs200147726	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	5.974e-05	0	0.0042	0	3.744e-05	0.0024	0.0001	0.0005	0.0013	0.0003	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0005	0.0004	2.423e-05	0	6.578e-05	0.0043	0	0	0.0034	0.0002	0.0005	0.0013	0.212	0.19500	T	0.003	0.76473	D	0.995	0.67487	D	0.91	0.64641	D	0.000395	0.44960	D	0.000000	0.571248	0.81001	D	2.725	0.79712	M	5.03	0.01287	T	-3.33	0.66206	D	0.176	0.18920	-0.9923	0.32012	T	0.024	0.10013	T	10	0.01361689	0.00288	T	0.015465	0.36219	T	0.170	0.43303	.	.	0.3085936734	0.30458	0.37525385869205524	0.37439	0.199506900413	0.22347	0.438601225615	0.30386	T	0.56318	0.85412	D	-0.488613	0.00661	T	-0.520187	0.20276	T	0.262506514787674	0.23424	T	0.845915	0.52533	T	0.14968346	0.34112	0.15412515	0.36187	0.14968346	0.34112	0.15412515	0.36186	-6.461	0.49984	T	.	.	0.107	0.20157	B	.	.	2.771592	0.36384	20.2	0.99773588923158985	0.86088	0.70461	0.34600	D	AEFGBCI	.	.	.	0.509123998052241	0.67627	5.106976	0.432156400070938	0.63578	4.594496	0.999999028114982	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	2.588000	0.45802	.	.	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.200000	0.21896	0.0:1.0:0.0:0.0	18.612	0.91244	272	0.89337	.	.	.	.	.	.	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	5791.98	46	chr11	62531839	.	C	T	5791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=1371;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-1.090e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:249,233:482:99:5806,0,6379	20	0	1	0
chr11	62786293	62786293	A	G	exonic	TAF6L	.	nonsynonymous SNV	TAF6L:NM_006473:exon10:c.A994G:p.T332A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.008	B	0.000	D	1.000	D	0.41	N	-0.18	T	-0.970	T	0.134	T	0.156	1.862	12.19	5.72	2.319	4.608	14.297	0.044	0.0102975998228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.717	0.05398	T	0.0	0.02946	B	0.008	0.13708	B	0.000079	0.52346	D	0.137595	0.944172	0.37438	D	0.655	0.16177	N	-0.18	0.65747	T	-1.31	0.32791	N	0.104	0.08786	-0.9695	0.37304	T	0.134	0.44759	T	10	0.19621837	0.35505	T	0.010298	0.26676	T	0.044	0.11924	0.6	0.73105	0.2338531098	0.23012	0.11288828912055503	0.11216	0.642582153666	0.57820	0.716799974442	0.69581	T	0.021678	0.16841	T	-0.104149	0.35736	T	-0.387379	0.34858	T	0.708764016628265	0.41140	D	0.762924	0.38892	T	0.122662865	0.28819	0.10302764	0.24710	0.122662865	0.28819	0.10302764	0.24710	-6.381	0.49361	T	.	.	0.068	0.02797	B	.	.	2.935815	0.39022	20.9	0.93893346898913554	0.23919	0.82431	0.41660	D	AEFDBHCI	0.458942	0.50976	N	-0.158872094324109	0.34859	1.995068	0.0824114644873746	0.43665	2.663533	0.999999999308189	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.72	5.72	0.89380	3.940000	0.56310	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.297	0.65872	740	0.53092	.	.	.	.	.	.	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	1855.98	34	chr11	62786293	.	A	G	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.930e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-7.780e-01;SOR=0.709	GT:AD:DP:GQ:PL	0/1:74,77:151:99:1870,0,1878	20	0	1	0
chr11	64245236	64245236	C	T	exonic	PPP1R14B	.	nonsynonymous SNV	PPP1R14B:NM_138689:exon2:c.G310A:p.E104K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.945	P	0.685	P	0.001	U	0.999	D	1.665	L	.	.	-0.608	T	0.250	T	0.324	4.277	22.3	4.05	1.983	2.799	15.406	0.117	0.0271444068011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.183	0.39190	T	0.945	0.53279	P	0.685	0.53610	P	0.001453	0.38980	U	0.155185	0.997018	0.45197	D	1.39	0.34934	L	.	.	.	-2.62	0.56301	D	0.238	0.26837	-0.6083	0.64474	T	0.250	0.61981	T	9	0.25050563	0.42377	T	0.027144	0.49992	D	0.117	0.32689	0.442	0.49811	0.117191471859	0.11215	0.5865405820129413	0.58584	1.34411219768	0.83927	0.845274806023	0.88899	D	0.197596	0.55432	T	-0.0508633	0.44316	T	-0.310838	0.43569	T	0.95896577835083	0.65409	D	0.79692	0.85901	T	0.38192523	0.59455	0.34717983	0.60376	0.38192523	0.59455	0.34717983	0.60375	-4.282	0.27924	T	.	.	0.271	0.69419	B	.;.;.	.;.;.	4.579191	0.72322	25.8	0.99917958577561727	0.98518	0.89658	0.50264	D	AEFDGBHCI	0.701241	0.65799	D	0.357118507377877	0.59115	4.088479	0.341235548869145	0.57981	3.966233	0.999999999902522	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.05	4.05	0.46415	2.921000	0.48549	7.681000	0.65292	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	15.406	0.74604	658	0.62094	.;.;.	.	.	.	.	.	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	1485.98	56	chr11	64245236	.	C	T	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1142;ExcessHet=0.0000;FS=5.749;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-3.370e-01;SOR=1.262	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1500,0,1632	20	0	1	0
chr11	64754024	64754024	G	A	exonic	PYGM	.	nonsynonymous SNV	PYGM:NM_001164716:exon8:c.C830T:p.A277V	McArdle disease, Autosomal recessive	YES	0	1517	5	0	0	5	0.00164528	0.9843	0.844	199796	Glycogen_storage_disease,_type_V|not_provided|Tip-toe_gait	MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.98	H	-3.63	D	1.091	D	0.943	D	0.954	4.436	23.6	4.8	2.483	9.657	15.389	0.946	0.158071572957	0.0005	0.000998403	0.0010	0.0004	0.0004	0	0	0.0016	0.0085	0.0002	0.0006404	99	154602	rs116135678	0.0009	0.0009	0.0009	0.0009	0.0013	0.0008	0.0008	0.0010	0.0010	0.0003	0.0013	0.0008	0	9.626e-05	0.0002	0.0010	0.0010	0.0001	0.0007	0.0007	0.0009	0.0006	0.0010	0.0006	0.0006	0.0008	0.0008	0.0004	0	0.0008	0.0009	0.0002	9.422e-05	0.0034	0.0010	0.0019	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000422	0.44522	D	0.099614	1	0.81001	D	4.575	0.99193	H	-3.63	0.95111	D	-3.39	0.66896	D	0.86	0.86511	1.091	0.99299	D	0.943	0.98115	D	10	0.3597877	0.52638	T	0.158072	0.83854	D	0.946	0.98921	.	.	0.981337301666	0.98113	0.930101038355278	0.92989	0.663232540941	0.59011	0.595907211304	0.52327	T	0.895794	0.97918	D	0.265292	0.80015	D	0.557856	0.95805	D	0.25692355632782	0.23180	T	0.993601	0.97904	D	0.9139113	0.92663	0.88170856	0.93681	0.9105789	0.92350	0.84944135	0.91468	-12.662	0.87923	D	0.485888924404009	0.56367	0.911	0.83519	P	.;.	.;.	5.923822	0.94075	33	0.99931805513787864	0.99387	0.99791	0.99491	D	AEFDBI	0.911148	0.87004	D	0.942628734366652	0.93685	12.20681	0.801532130829481	0.89899	10.16914	0.999999999978264	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	10.003000	0.99689	11.707000	0.94592	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.632000	0.32210	0.0:0.0:1.0:0.0	15.389	0.74451	384	0.83545	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	866.98	36	chr11	64754024	.	G	A	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-1.341e+00;SOR=0.776	GT:AD:DP:GQ:PL	0/1:29,33:62:99:881,0,691	20	0	1	0
chr11	65206572	65206572	G	A	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon13:c.G1463A:p.R488H	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.013	B	0.001	N	1.000	D	1.475	L	-2.31	D	-0.265	T	0.494	T	0.401	3.112	16.40	5.26	2.448	2.192	9.897	0.318	0.0377587424194	7.9e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376981701	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0.0002	1.079e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.149	0.24758	T	0.156	0.31833	T	0.005	0.12996	B	0.013	0.16460	B	0.001464	0.38917	N	0.255699	0.999963	0.52935	D	1.74	0.45129	L	-2.31	0.87750	D	-1.97	0.45587	N	0.532	0.56231	-0.2651	0.75948	T	0.494	0.80820	T	10	0.5360991	0.63455	D	0.037759	0.57812	D	0.318	0.64008	.	.	0.950229787061	0.94970	0.4757507506659741	0.47494	0.407132861542	0.41578	0.430837601423	0.29323	T	0.530442	0.83742	D	-0.079646	0.39772	T	-0.155211	0.58781	T	0.344970634758008	0.26821	T	0.889111	0.62070	D	0.060953952	0.12567	0.07114312	0.15198	0.060953952	0.12567	0.07114312	0.15198	-7.409	0.56968	T	0.17659385832641158	0.22541	0.092	0.13597	B	.;.;.;.;.	.;.;.;.;.	4.046625	0.59952	24.2	0.9979016927839921	0.87572	0.96472	0.69308	D	AEFGBHI	0.681566	0.64487	D	-0.052606364019366	0.39485	2.329315	0.120037921543593	0.45574	2.818236	0.96616264111354	0.28884	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	1.979000	0.40231	7.276000	0.58006	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0928:0.0:0.9072:0.0	9.897	0.40496	405	0.82444	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain 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	1991.98	37	chr11	65206572	.	G	A	1991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=881;ExcessHet=0.0000;FS=3.647;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=0.719;SOR=0.454	GT:AD:DP:GQ:PL	0/1:79,84:163:99:2006,0,1685	20	0	1	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	0/2:19,2,13,0:34:99:479,464,1339,0,705,751,548,1301,795,1380	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	0/2:19,2,13,0:34:99:479,464,1339,0,705,751,548,1301,795,1380	10	0	4	0
chr11	66369490	66369490	T	C	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon3:c.A154G:p.R52G	.	.	392	1117	13	0	0	13	0.00578549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.0	B	0.130	N	1.000	N	0.55	N	1.97	T	-1.017	T	0.034	T	0.071	0.766	8.052	2.87	0.396	0.254	4.211	0.022	.	0.0017	0.00539137	0.0045	0.0004	0.0007	0.0001	0.0009	0.0022	0.0067	0.0222	0.0038809	600	154602	rs146937376	0.0031	0.0031	0.0025	0.0037	0.0204	0.0030	0.0030	0.0196	0.0193	0.0004	0.0010	0.0091	0	0.0010	0.0026	0.0020	0.0036	0.0204	0.0021	0.0021	0.0019	0.0022	0.0157	0.0019	0.0018	0.0129	0.0118	0.0007	0	0.0011	0.0063	0.0002	0.0012	0.0034	0.0023	0.0014	0.0157	0.407	0.11478	T	0.398	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.129712	0.02798	N	2.198090	1	0.08975	N	-1.11	0.00959	N	1.97	0.22067	T	0.12	0.06138	N	0.035	0.02559	-1.0169	0.24722	T	0.034	0.14726	T	10	0.0034039617	0.00060	T	.	.	.	0.022	0.04323	.	.	0.202086224978	0.19791	0.32415622875043315	0.32328	0.15498725264	0.17506	0.286808758974	0.08459	T	0.002013	0.37112	T	-0.691046	0.00041	T	-0.74916	0.03518	T	0.000969181622218029	0.00009	T	0.545245	0.18642	T	0.040499426	0.05791	0.033491585	0.02253	0.040499426	0.05790	0.033491585	0.02252	-2.603	0.06526	T	.	.	0.044	0.00045	B	.;.;.;.;.	.;.;.;.;.	0.513562	0.08826	5.602	0.62565808386946475	0.06995	0.00829	0.03338	N	AEFDGBHCI	0.027466	0.02249	N	-0.988102682698959	0.08857	0.4169128	-0.9732708604488	0.10388	0.5228717	0.999999890634199	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.85	2.87	0.32523	-0.048000	0.11898	-0.006000	0.13130	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5806:0.1889:0.2306	4.211	0.09968	61	0.97388	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	760.98	38	chr11	66369490	.	T	C	760.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.413e+00;DP=841;ExcessHet=0.0000;FS=2.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.93;ReadPosRankSum=-3.710e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/1:58,38:96:99:775,0,1506	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	1/1:1,62,0,0:63:99:2668,154,0,2671,186,2704,2671,186,2704,2704	5	4	8	0
chr11	66871069	66871069	C	A	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon5:c.G616T:p.V206L	Pyruvate carboxylase deficiency, Autosomal recessive	.	1	1495	22	4	0	30	0.00993377	.	.	200210	not_provided|Pyruvate_carboxylase_deficiency	MedGen:C3661900|MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.603	P	0.389	B	0.000	D	1.000	D	1.445	L	-4.23	D	0.918	D	0.865	D	0.734	3.749	19.04	4.99	2.327	6.982	15.756	0.770	.	0.0015	0.00399361	0.0034	0.0004	0.0011	0.0001	0.0002	0.0018	0.0055	0.0159	0.0030077	465	154602	rs147945506	0.0026	0.0026	0.0022	0.0030	0.0145	0.0025	0.0025	0.0139	0.0136	0.0004	0.0011	0.0015	0	0.0001	0.0019	0.0020	0.0029	0.0145	0.0016	0.0016	0.0014	0.0018	0.0122	0.0015	0.0014	0.0097	0.0088	0.0007	0	0.0013	0.0003	0.0002	0.0003	0.0034	0.0019	0.0014	0.0122	0.032	0.50132	D	0.041	0.50514	D	0.603	0.39389	P	0.389	0.44119	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.48	0.37141	L	-4.23	0.97006	D	-2.26	0.50502	N	0.582	0.61933	0.918	0.95927	D	0.865	0.95516	D	10	0.0122175515	0.00263	T	.	.	.	0.770	0.92253	0.532	0.64002	0.855541633685	0.85414	.	.	1.23621605308	0.81471	0.742577672005	0.73352	T	0.778632	0.94136	D	-0.0158576	0.49441	T	0.217419	0.84044	D	0.0201840610198195	0.00718	T	0.989923	0.97608	D	0.4286623	0.62665	0.33626238	0.59431	0.5205709	0.68293	0.41155142	0.65383	-8.117	0.61865	D	0.26643653524124544	0.35909	0.595	0.68686	P	.;.;.;.;.	.;.;.;.;.	4.680965	0.74909	26.2	0.99283857885603	0.58008	0.99334	0.94646	D	AEFDGBI	0.879305	0.80517	D	0.360963118492356	0.59322	4.110527	0.432198534610048	0.63581	4.594817	0.999999999971633	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.99	4.99	0.65942	5.529000	0.66849	7.613000	0.61989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	15.756	0.77798	295	0.88218	Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	851.98	37	chr11	66871069	.	C	A	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.615e+00;DP=784;ExcessHet=0.0000;FS=6.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-4.990e-01;SOR=0.228	GT:AD:DP:GQ:PL	0/1:35,35:70:99:866,0,991	20	0	1	0
chr11	77182592	77182592	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon25:c.G3277A:p.E1093K	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	1191282	Usher_syndrome_type_1B|not_provided	MONDO:MONDO:0700087,MedGen:C2931206|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.72	T	0.663	P	0.103	B	0.000	D	1.000	D	1.32	L	-2.1	D	-0.201	T	0.465	T	0.594	2.508	14.35	5.69	2.691	9.428	19.802	0.439	0.206209499737	.	.	3.363e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs782403609	2.739e-05	2.736e-05	1.635e-05	3.854e-05	0.0004	2.064e-05	1.817e-05	0.0003	0.0003	0	0	0	0	0	0.0002	2.698e-06	0	0.0004	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.398	0.14843	T	0.707	0.05582	T	0.084	0.24799	B	0.012	0.16012	B	0.000171	0.48594	D	0.176665	1	0.81001	D	0.84	0.21119	L	-2.28	0.87671	D	-1.33	0.33197	N	0.778	0.84713	-0.2005	0.77658	T	0.465	0.79317	T	10	0.2734065	0.44890	T	0.206209	0.87027	D	0.439	0.74306	0.377	0.39156	0.882308312093	0.88115	0.3171606396403138	0.31629	0.22099599647	0.24648	0.734500050545	0.72164	T	0.344133	0.71269	T	-0.102067	0.36082	T	-0.07387	0.65348	T	0.203119197152673	0.20587	T	0.966303	0.92599	D	0.22931762	0.45667	0.24036664	0.49408	0.22931762	0.45667	0.24036664	0.49407	-11.31	0.81331	D	0.12973493276425202	0.13580	0.243	0.47730	B	.;.;.;.;.;.	.;.;.;.;.;.	4.593845	0.72687	25.9	0.99515348615353627	0.68919	0.98792	0.86914	D	AEFBI	0.971389	0.99346	D	0.0447370851796439	0.43901	2.674072	0.190681278856228	0.49335	3.137932	0.999999998879014	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	7.708000	0.83603	11.709000	0.94623	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.802	0.96512	613	0.66686	MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain;.;.;MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 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	1602.98	33	chr11	77182592	.	G	A	1602.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=860;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.482e+00;SOR=0.599	GT:AD:DP:GQ:PL	0/1:47,60:107:99:1617,0,1149	20	0	1	0
chr11	88335035	88335035	C	T	exonic	CTSC	.	nonsynonymous SNV	CTSC:NM_001114173:exon2:c.G220A:p.A74T	Haim-Munk syndrome, Autosomal recessive;Papillon-Lefevre syndrome, Autosomal recessive;Periodontitis 1, juvenile, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.000	D	1.000	D	3.1	M	-2.77	D	0.927	D	0.877	D	0.745	4.178	21.6	5.84	2.760	6.902	17.072	0.725	0.165273932962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.011	0.92824	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.255	0.89877	M	-2.77	0.90904	D	-2.87	0.65056	D	0.778	0.84817	0.927	0.96063	D	0.877	0.95901	D	9	0.9256468	0.91913	D	0.165274	0.84418	D	0.725	0.90324	0.785	0.90844	0.988174744022	0.98804	0.8616309454754344	0.86127	0.377667360134	0.39193	0.476274728775	0.35544	T	0.889245	0.97737	D	0.305594	0.83407	D	0.201188	0.83191	D	0.994466364383698	0.85769	D	0.90021	0.65300	D	0.87257683	0.89066	0.71020335	0.82906	0.87257683	0.89068	0.71020335	0.82907	-2.105	0.07320	T	.	.	0.308	0.58697	B	.;.;.	.;.;.	5.075202	0.84663	28.4	0.99522363784075729	0.69346	0.92213	0.55198	D	AEFGBCI	0.815156	0.73720	D	0.874176803725499	0.90438	10.40421	0.823745604372536	0.91392	10.86424	1.0	0.98316	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.723	0.93126	0	.	.	5.84	5.84	0.93373	7.364000	0.78783	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:1.0:0.0:0.0	17.072	0.86451	858	0.34001	Cathepsin C exclusion;.;.	.	.	.	.	.	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	4009.98	65	chr11	88335035	.	C	T	4009.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.082;DP=1699;ExcessHet=0.0000;FS=3.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.701;SOR=0.521	GT:AD:DP:GQ:PL	0/1:128,164:292:99:4024,0,2857	20	0	1	0
chr11	93408376	93408376	C	A	exonic	DEUP1	.	nonsynonymous SNV	DEUP1:NM_181645:exon12:c.C1472A:p.T491K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.355	B	0.08	B	0.542	N	1.000	N	1.355	L	1.99	T	-1.000	T	0.034	T	0.158	-0.463	1.861	2.98	0.368	0.361	3.322	0.007	0.00780663914303	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs542672676	1.621e-05	1.915e-05	6.971e-06	2.566e-05	0.0002	1.08e-05	9.02e-06	9.517e-05	7.539e-05	0	0	0	2.648e-05	0	0	7.344e-06	1.698e-05	0.0002	6.575e-05	6.564e-05	9.002e-05	4.036e-05	0.0004	3.519e-05	2.618e-05	7.301e-05	3.033e-05	0	0	0	0	0.0002	0	0.0068	4.414e-05	0.0009	0.0004	0.014	0.53172	D	0.386	0.15698	T	0.355	0.33731	B	0.049	0.25116	B	0.541714	0.11529	N	0.810255	1	0.08975	N	1.935	0.51832	L	1.99	0.21666	T	-0.85	0.23156	N	0.136	0.13341	-0.9995	0.30058	T	0.034	0.14596	T	10	0.037932158	0.02179	T	0.007807	0.20720	T	0.007	0.00512	0.304	0.27325	0.136095386433	0.13204	0.19972160201308287	0.19889	0.0336267795191	0.03527	0.276614189148	0.07025	T	0.001776	0.18216	T	-0.432569	0.01430	T	-0.594704	0.13261	T	0.244092270731926	0.22606	T	0.712529	0.32403	T	0.06622006	0.14226	0.06345969	0.12575	0.06622006	0.14226	0.06345969	0.12575	-3.386	0.14869	T	.	.	0.128	0.27252	B	.;.;.	.;.;.	1.606049	0.20528	14.79	0.59774966402405527	0.06304	0.09740	0.15427	N	AEFI	0.091660	0.18563	N	-0.840055639472321	0.12294	0.5984505	-0.851617712718111	0.13249	0.6862491	4.12300169883868E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	2.98	0.33575	0.361000	0.20003	0.197000	0.15809	-0.176000	0.10722	0.250000	0.24849	0.000000	0.08366	0.665000	0.33109	0.1387:0.5725:0.1342:0.1546	3.322	0.06639	420	0.81451	.;.;.	.	.	.	.	.	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	754.98	35	chr11	93408376	.	C	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.11;DP=766;ExcessHet=0.0000;FS=4.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.680e-01;SOR=1.307	GT:AD:DP:GQ:PL	0/1:44,28:72:99:769,0,1040	20	0	1	0
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	1/1:0,99,0:101:99:.:.:4178,302,0,4201,320,4347	0	17	3	0
chr11	100271140	100271140	T	C	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon15:c.T1991C:p.L664P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.725	H	-1.95	D	1.035	D	0.874	D	1.0	4.136	21.4	5.51	2.094	7.589	14.814	0.948	0.545091240612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	5.135	0.99936	H	-1.95	0.85003	D	-6.19	0.91058	D	0.97	0.99015	1.035	0.97818	D	0.874	0.95806	D	10	0.98820204	0.99226	D	0.545091	0.95781	D	0.948	0.98990	0.945	0.99302	0.958349784257	0.95790	0.9587133783093483	0.95857	0.310046374536	0.33317	0.811578154564	0.83734	D	0.565253	0.85515	D	0.443202	0.92170	D	0.398853	0.92073	D	0.999731957912445	0.98729	D	0.998712	0.99300	D	0.9760552	0.98794	0.9406452	0.97809	0.9760552	0.98795	0.9406452	0.97810	-13.145	0.91731	D	.	.	0.992	0.95627	P	.;.;.;.;.;.	.;.;.;.;.;.	5.220804	0.87624	29.3	0.99923044346334378	0.98917	0.97369	0.74314	D	AEFI	0.963048	0.98483	D	1.02559764339445	0.96478	14.74458	0.903615472759846	0.95727	13.90718	0.985145929311088	0.30836	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.674000	0.83146	7.918000	0.74374	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.814	0.69645	862	0.33134	.;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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	996.98	34	chr11	100271140	.	T	C	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.657;DP=785;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.07;ReadPosRankSum=-1.684e+00;SOR=0.859	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1011,0,1342	20	0	1	0
chr11	110199644	110199644	G	T	exonic	RDX	.	nonsynonymous SNV	RDX:NM_001260496:exon7:c.C571A:p.R191S	Deafness, autosomal recessive 24, Autosomal recessive	.	8	1509	5	0	0	5	0.00165399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.866	P	0.735	P	.	.	1.000	D	.	.	0.97	T	0.177	D	0.571	D	0.386	2.650	14.82	4.79	2.941	3.817	13.648	0.261	0.141791798613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016821813	1.816e-05	1.59e-05	7.919e-06	2.683e-05	0.0002	9.18e-06	6.69e-06	1.185e-05	8.84e-06	0	0	0	0	0	0.0002	2.524e-05	0	1.593e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.98139	0.26865	N	.	.	.	-1.41	0.80560	T	-0.16	0.38345	N	0.382	0.64648	0.177	0.85520	D	0.571	0.84499	D	8	0.31010818	0.48491	T	0.141792	0.82419	D	0.261	0.57352	0.436	0.48828	0.532691155838	0.52918	0.6252043173955735	0.62453	0.190246609254	0.21341	0.559227585793	0.47159	T	.	.	.	0.0547193	0.58947	T	-0.159176	0.58426	T	0.903328955173492	0.55650	D	0.708429	0.31914	T	.	.	.	.	.	.	.	.	-2.735	0.08557	T	.	.	0.291	0.60254	B	.;.;.;.;.	.;.;.;.;.	4.128811	0.61766	24.4	0.98469850152691696	0.41837	0.78851	0.38967	D	AEFDBHCIJ	0.477218	0.52030	N	0.47037646701889	0.65367	4.813703	0.51184608339777	0.68785	5.268387	0.999999998016731	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.654281	0.52657	0	0.322989	0.05693	1	.	.	4.79	4.79	0.60909	3.841000	0.55557	7.957000	0.75973	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	13.648	0.61768	739	0.53257	.;.;.;.;.	.	.	.	.	.	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	1631.98	37	chr11	110199644	.	G	T	1631.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=832;ExcessHet=0.0000;FS=1.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.270e+00;SOR=0.892	GT:AD:DP:GQ:PL	0/1:54,64:118:99:1646,0,1203	20	0	1	0
chr11	111836229	111836229	G	A	exonic	ALG9	.	nonsynonymous SNV	ALG9:NM_001352409:exon12:c.C1004T:p.P335L	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive	.	0	1485	37	0	0	37	0.0123046	.	.	177264	Gillessen-Kaesbach-Nishimura_syndrome|ALG9_congenital_disorder_of_glycosylation|not_specified|not_provided|ALG9-related_disorder	MONDO:MONDO:0009890,MedGen:C1849762,OMIM:263210|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.483	P	0.163	B	0.000	N	1.000	D	1.145	L	-0.07	T	-0.888	T	0.179	T	0.479	3.457	17.71	5.2	2.586	7.795	19.093	0.127	0.0336632568633	0.0015	0.00239617	0.0027	0.0007	0.0009	0.0001	0.0002	0.0027	0.0022	0.0074	0.0026649	412	154602	rs185149177	0.0035	0.0035	0.0034	0.0036	0.0068	0.0034	0.0034	0.0063	0.0061	0.0003	0.0008	0.0030	0	0.0005	0.0054	0.0037	0.0033	0.0068	0.0020	0.0020	0.0021	0.0019	0.0058	0.0018	0.0018	0.0041	0.0036	0.0006	0.0044	0.0014	0.0020	0	0.0007	0.0034	0.0031	0.0024	0.0058	0.104	0.29959	T	0.138	0.34716	T	0.047	0.27304	B	0.025	0.28987	B	0.000007	0.62929	N	0.147742	1	0.81001	D	2.015	0.55033	M	-0.07	0.63738	T	-5.0	0.82341	D	0.607	0.72925	-0.8880	0.49105	T	0.179	0.52551	T	10	0.008098453	0.00184	T	0.033663	0.55143	D	0.169	0.43123	.	.	0.788021503808	0.78605	0.5538995121555957	0.55315	0.425138627803	0.42928	0.614278435707	0.54920	T	0.431527	0.77962	T	-0.298674	0.08785	T	-0.198215	0.54816	T	0.0385160776820125	0.03423	T	0.941106	0.78262	D	0.29010123	0.52002	0.22707318	0.47706	0.29010123	0.52002	0.22707318	0.47705	-8.14	0.69506	D	0.2835001838480206	0.37917	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	4.022110	0.59410	24.1	0.99620067464578854	0.75353	0.97965	0.78484	D	AEFDBIJ	0.904817	0.85558	D	0.121574638116134	0.47471	2.97232	0.292554044619244	0.55102	3.673803	0.999996788867736	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.920000	0.86928	9.952000	0.82735	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.093	0.93221	81	0.96616	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	522.98	34	chr11	111836229	.	G	A	522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=759;ExcessHet=0.0000;FS=0.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.81;ReadPosRankSum=0.523;SOR=0.885	GT:AD:DP:GQ:PL	0/1:43,24:67:99:537,0,1098	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	0/2:102,0,78:180:99:.:.:1807,2113,6276,0,4162,3930	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	0/2:102,0,78:180:99:.:.:1807,2113,6276,0,4162,3930	1	0	0	0
chr11	119150009	119150009	C	T	exonic	ABCG4	.	nonsynonymous SNV	ABCG4:NM_001142505:exon2:c.C44T:p.P15L	.	.	416	1082	22	2	0	26	0.0118721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.897	P	0.11	B	0.000	D	1.000	D	1.355	L	3.24	T	-1.036	T	0.013	T	0.391	3.228	16.82	4.9	2.269	0.364	13.644	0.125	.	0.0075	0.00359425	0.0098	0.0010	0.0039	0	0.0429	0.0113	0.0116	0.0057	0.0089197	1379	154602	rs113286118	0.0087	0.0088	0.0087	0.0088	0.0089	0.0086	0.0086	0.0087	0.0087	0.0009	0.0042	0.0029	2.519e-05	0.0322	0.0077	0.0089	0.0076	0.0051	0.0080	0.0081	0.0069	0.0092	0.0090	0.0077	0.0075	0.0084	0.0082	0.0014	0.0022	0.0041	0.0037	0.0004	0.0409	0.0034	0.0090	0.0081	0.0042	0.002	0.72154	D	0.007	0.70582	D	0.897	0.49385	P	0.11	0.31460	B	0.000002	0.62929	D	0.060836	0.999968	0.52935	D	1.935	0.51832	L	3.24	0.06845	T	-1.17	0.29933	N	0.247	0.28028	-1.0362	0.18481	T	0.013	0.04938	T	10	0.004887998	0.00104	T	.	.	.	0.125	0.34456	.	.	0.682096102456	0.67939	0.39496038803249733	0.39411	.	.	0.59180533886	0.51749	T	0.15108	0.49086	T	-0.492883	0.00627	T	-0.471374	0.25369	T	0.0296305477632103	0.01933	T	0.819218	0.47714	T	0.18684475	0.40111	0.18629368	0.41794	0.18684475	0.40111	0.18629368	0.41793	-5.226	0.39205	T	.	.	0.125	0.26419	B	.;.;.;.	.;.;.;.	3.511807	0.49179	22.7	0.99813081388684832	0.89708	0.54838	0.29714	D	AEFDBCI	0.276283	0.39106	N	0.00217070683941212	0.41955	2.518879	0.0239417855891425	0.40829	2.442973	0.999899937018009	0.45129	0.582742	0.33608	0	0.563428	0.19063	0	0.503968	0.08637	0	0.620976	0.48614	0	.	.	4.9	4.9	0.63643	0.345000	0.19720	5.866000	0.50483	0.596000	0.33519	0.048000	0.21332	1.000000	0.68203	0.980000	0.58198	0.0:0.8456:0.1544:0.0	13.644	0.61743	228	0.91137	.;.;.;.	.	.	.	.	rs113286118	Uncertain significance	0	0	0	0	0	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	794.98	34	chr11	119150009	.	C	T	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.775;SOR=0.616	GT:AD:DP:GQ:PL	0/1:32,33:65:99:809,0,769	20	0	1	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	0/1:10,8,0:18:99:302,0,396,332,420,752	3	7	5	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	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	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,35:81:99:0|1:4591261_G_C:391,0,576:4591261	3	0	18	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.236	N	1.000	N	-0.805	N	-0.1	T	-1.084	T	0.068	T	0.059	0.995	9.062	-3.92	-0.512	-0.125	0.780	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	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	0.1429	304.11	40	chr12	4591262	.	T	C	304.11	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.075e+00;DP=1456;ExcessHet=1.7912;FS=131.276;InbreedingCoeff=-0.1677;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=1.08;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,22:85:25:0|1:4591261_G_C:25,0,1547:4591261	15	0	6	0
chr12	4720831	4720831	C	T	exonic	GALNT8	.	nonsynonymous SNV	GALNT8:NM_017417:exon1:c.C154T:p.R52C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.975	D	0.248	B	0.000	N	1.000	N	1.1	L	0.59	T	-0.964	T	0.098	T	0.296	1.879	12.24	-1.99	-0.499	-0.879	2.346	0.176	0.0136257166009	0.0002	0.000199681	0.0001	0.0003	0.0003	0	0	8.99e-05	0	0.0002	0.0001164	18	154602	rs201036640	5.55e-05	5.541e-05	4.364e-05	6.747e-05	0.0004	4.55e-05	4.162e-05	0.0003	0.0002	0.0004	0.0002	0	0	0	0.0003	2.252e-05	9.952e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0.0034	7.351e-05	0	0.0004	0.027	0.46513	D	0.018	0.59732	D	0.975	0.58077	D	0.248	0.38946	B	0.000012	0.00162	N	16.631100	1	0.08975	N	1.39	0.34934	L	0.59	0.53943	T	-0.7	0.19933	N	0.19	0.20793	-0.9640	0.38409	T	0.098	0.36548	T	10	0.03996235	0.02526	T	0.013626	0.33179	T	0.176	0.44373	.	.	0.255270683199	0.25152	0.08313785579429908	0.08248	0.241717777176	0.26693	0.203452259302	0.00564	T	0.001179	0.00676	T	-0.439297	0.01306	T	-0.514762	0.20827	T	0.0439239709699144	0.04406	T	0.40026	0.10182	T	0.0660479	0.14174	0.058480673	0.10815	0.0660479	0.14173	0.058480673	0.10814	-7.015	0.54143	T	.	.	0.143	0.31507	B	.	.	0.959776	0.13364	9.867	0.98543705095108169	0.42757	0.00103	0.00666	N	AEFDGBIJ	0.025324	0.01716	N	-0.903169058424963	0.10767	0.5161817	-1.09719212802666	0.07755	0.3784927	0.998372726500995	0.36850	0.59774	0.34471	0	0.563428	0.19063	0	0.488094	0.07640	1	0.63947	0.58350	0	.	.	3.74	-1.99	0.07047	-0.848000	0.04435	-0.840000	0.07221	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3746:0.2398:0.0:0.3855	2.346	0.04010	653	0.62661	.	.	.	.	.	.	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	672.98	37	chr12	4720831	.	C	T	672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=784;ExcessHet=0.0000;FS=0.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.12;SOR=0.938	GT:AD:DP:GQ:PL	0/1:35,27:62:99:687,0,819	20	0	1	0
chr12	5952498	5952498	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon49:c.G8008A:p.G2670S,	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	0	1515	5	2	0	9	0.0029615	.	.	1696197	von_Willebrand_disease_type_1	MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.002	N	1.000	D	2.185	M	1.36	T	-0.672	T	0.229	T	0.454	3.169	16.60	5.36	2.664	5.562	16.919	0.324	0.0680108071434	.	.	1.662e-05	0	0	0	0	1.508e-05	0	6.153e-05	1.29e-05	2	154602	rs746890802	6.157e-06	6.156e-06	6.807e-06	5.501e-06	4.638e-05	2.9e-06	2.1e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.001620	0.38497	N	0.000000	1	0.81001	D	3.08	0.87267	M	1.36	0.34452	T	-1.78	0.42001	N	0.566	0.58968	-0.6721	0.61733	T	0.229	0.59472	T	10	0.6733493	0.70845	D	0.068011	0.70330	D	0.324	0.64624	0.46	0.52753	0.832200640711	0.83060	0.857853137591115	0.85748	0.889460143212	0.70153	0.404747903347	0.25729	T	0.402356	0.75941	T	-0.097208	0.36887	T	-0.276779	0.47135	T	0.926382839679718	0.58864	D	0.926807	0.73035	D	0.1767578	0.38605	0.16763467	0.38662	0.1767578	0.38604	0.16763467	0.38661	-4.87	0.35396	T	0.64595562711054	0.71736	0.105	0.19235	B	.	.	4.682070	0.74937	26.2	0.99302091377747237	0.58686	0.90002	0.50847	D	AEFBCI	0.887853	0.82045	D	0.701365434973133	0.79721	7.138046	0.645350416251779	0.78264	6.841476	0.999899224578707	0.45129	0.631515	0.41029	0	0.563428	0.19063	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.36	5.36	0.76624	5.943000	0.69923	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	16.919	0.86029	958	0.09170	.	.	.	.	.	.	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	1083.98	43	chr12	5952498	.	C	T	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.264e+00;DP=848;ExcessHet=0.0000;FS=4.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=1.41;SOR=1.161	GT:AD:DP:GQ:PL	0/1:65,47:112:99:1098,0,1691	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	1/2:0,5,53,0,0:58:24:2189,2009,2218,185,0,24,2210,2132,203,2313,2210,2132,203,2313,2313	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	1/2:0,5,53,0,0:58:24:2189,2009,2218,185,0,24,2210,2132,203,2313,2210,2132,203,2313,2313	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	1/2:0,5,53,0,0:58:24:2189,2009,2218,185,0,24,2210,2132,203,2313,2210,2132,203,2313,2313	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	1/2:0,5,53,0,0:58:24:2189,2009,2218,185,0,24,2210,2132,203,2313,2210,2132,203,2313,2313	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,18,0,0,0,0,0:46:99:.:.:575,0,983,660,1037,1697,660,1037,1697,1697,660,1037,1697,1697,1697,660,1037,1697,1697,1697,1697,660,1037,1697,1697,1697,1697,1697	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,18,0,0,0,0,0:46:99:.:.:575,0,983,660,1037,1697,660,1037,1697,1697,660,1037,1697,1697,1697,660,1037,1697,1697,1697,1697,660,1037,1697,1697,1697,1697,1697	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,18,0,0,0,0,0:46:99:.:.:575,0,983,660,1037,1697,660,1037,1697,1697,660,1037,1697,1697,1697,660,1037,1697,1697,1697,1697,660,1037,1697,1697,1697,1697,1697	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,18,0,0,0,0,0:46:99:.:.:575,0,983,660,1037,1697,660,1037,1697,1697,660,1037,1697,1697,1697,660,1037,1697,1697,1697,1697,660,1037,1697,1697,1697,1697,1697	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,18,0,0,0,0,0:46:99:.:.:575,0,983,660,1037,1697,660,1037,1697,1697,660,1037,1697,1697,1697,660,1037,1697,1697,1697,1697,660,1037,1697,1697,1697,1697,1697	1	0	2	0
chr12	7369636	7369636	C	T	exonic	CD163L1	.	nonsynonymous SNV	CD163L1:NM_001297650:exon15:c.G3790A:p.E1264K	.	.	423	1097	2	0	0	2	0.000910747	.	.	2774065	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.85	T	0.203	B	0.013	B	.	.	1.000	N	0.675	N	1.35	T	-0.995	T	0.033	T	0.086	0.509	6.758	-6.65	-1.766	-1.398	3.440	0.004	0.00172400541359	0.0010	0.000399361	0.0003	0.0013	8.648e-05	0	0	0.0002	0.0011	0.0001	0.0002458	38	154602	rs138733121	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	8.944e-05	0	2.519e-05	5.617e-05	0.0003	0.0002	0.0003	0.0001	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0003	0	0	0	0	0.0001	0	0.0004	0.385	0.14303	T	0.593	0.08217	T	0.203	0.29776	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0.305	0.10234	N	1.35	0.34648	T	0.22	0.04694	N	0.102	0.10911	-0.9952	0.31245	T	0.033	0.14117	T	9	0.009443253	0.00213	T	0.001724	0.02882	T	0.004	0.00165	.	.	0.206339911435	0.20273	0.340171211966434	0.33930	0.247614121211	0.27312	0.297082483768	0.09967	T	3.93E-4	0.00124	T	-0.644249	0.00078	T	-0.704671	0.05574	T	0.00131694730536722	0.00013	T	0.714229	0.32652	T	0.026122233	0.01631	0.040392634	0.04356	0.026122233	0.01630	0.040392634	0.04355	-6.009	0.46355	T	.	.	0.071	0.03811	B	.;.	.;.	0.774374	0.11446	8.051	0.75827469048546059	0.11226	0.01493	0.04955	N	ALL	0.068081	0.13413	N	-1.6352914797964	0.01098	0.0476841	-1.75886902504298	0.00900	0.04025293	0.999999999999999	0.74766	0.643511	0.44296	0	0.600882	0.49574	2	0.547309	0.15389	0	0.631631	0.49550	0	.	.	3.33	-6.65	0.01630	-0.850000	0.04425	-10.168000	0.00732	-0.346000	0.05637	0.000000	0.06391	0.000000	0.08366	0.495000	0.28905	0.1276:0.461:0.2569:0.1545	3.440	0.07031	794	0.45591	SRCR domain|SRCR domain|SRCR domain|SRCR-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	1	0	0	0	0.02381	1491.98	33	chr12	7369636	.	C	T	1491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=-2.500e-01;SOR=0.669	GT:AD:DP:GQ:PL	0/1:88,64:152:99:1506,0,2064	20	0	1	0
chr12	8174407	8174407	T	A	exonic	ZNF705A	.	nonsynonymous SNV	ZNF705A:NM_001004328:exon2:c.T94A:p.Y32N,	.	.	467	1052	2	1	0	4	0.00189753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.971	D	0.337	B	.	.	0.997	N	2.89	M	3.11	T	-1.012	T	0.031	T	0.503	2.702	15.00	1.57	1.012	0.666	5.346	0.068	0.00205616859962	.	0.000399361	0.0002	0	0	0	0	0	0	0.0019	7.68e-05	2	26028	rs773432197	7.554e-05	7.456e-05	3.861e-05	0.0001	0.0012	6.397e-05	5.949e-05	0.0010	0.0009	0	0	0	0	0	0.0005	0	4.996e-05	0.0012	5.254e-05	5.249e-05	5.141e-05	5.372e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.971	0.57185	D	0.337	0.42281	B	.	.	.	.	0.997033	0.22815	N	4.195	0.97796	H	3.11	0.08194	T	-7.81	0.96243	D	0.645	0.65673	-1.0125	0.26133	T	0.031	0.13504	T	9	0.12755093	0.24258	T	0.002056	0.03748	T	0.068	0.19811	0.762	0.89053	0.595101170395	0.59188	0.23762401952644552	0.23676	3.28525368344	0.99565	0.56209641695	0.47563	T	0.122958	0.44699	T	-0.372229	0.03483	T	-0.36665	0.37281	T	0.998994410037994	0.95825	D	0.859314	0.57909	D	0.6107884	0.73270	0.41730946	0.65788	0.6107884	0.73271	0.41730946	0.65788	-7.167	0.55244	T	.	.	0.850	0.79748	P	.;.;.	.;.;.	2.512290	0.32452	19.05	0.98627626164446802	0.43866	0.02327	0.06664	N	AEFI	0.039367	0.05708	N	-0.189183246498735	0.33585	1.906985	-0.404825799536779	0.24855	1.363439	2.97068810693977E-6	0.01202	0.516011	0.20929	0	0.547309	0.14657	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	1.57	1.57	0.22490	1.787000	0.38336	3.235000	0.36931	0.490000	0.22344	0.551000	0.27354	0.213000	0.23658	0.019000	0.11356	0.0:0.0:0.0:1.0	5.346	0.15317	844	0.36711	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	1	0	0	0	0.025	1080.33	41	chr12	8174407	.	T	A	1080.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.46;DP=745;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=32.69;MQRankSum=-3.170e-01;QD=13.50;ReadPosRankSum=-4.280e-01;SOR=0.711	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1094,0,1065	19	0	1	1
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.188	B	0.299	B	0.007	N	0.932	N	1.935	M	2.2	T	-1.024	T	0.058	T	0.331	0.334	5.809	0.681	0.008	-0.001	6.253	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	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	0.1111	188.24	45	chr12	10450556	.	G	A	188.24	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.015e+00;DP=1153;ExcessHet=0.6776;FS=365.008;InbreedingCoeff=-0.1621;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=1.14;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,21:73:4:.:.:4,0,773	14	0	4	3
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	1|1:2,149,0:151:99:1|1:11353413_G_A:5610,399,0,5616,448,5664:11353413	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	1|1:0,69,0:69:99:1|1:11353413_G_A:3054,208,0,3054,208,3054:11353413	0	8	4	7
chr12	12079679	12079679	C	T	exonic	BCL2L14	.	nonsynonymous SNV	BCL2L14:NM_030766:exon2:c.C374T:p.S125L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	B	0.001	B	0.000	N	1.000	N	1.245	L	.	.	-1.071	T	0.069	T	0.067	2.110	13.01	-6.2	-2.236	-2.091	1.944	0.051	0.00283400901041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	2.722e-06	6.875e-06	3.597e-06	1.99e-06	1.28e-06	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	4.967e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.107	0.30656	T	0.092	0.40110	T	0.002	0.09854	B	0.001	0.04355	B	0.000014	0.00162	N	18.595300	1	0.08975	N	0.895	0.22405	L	.	.	.	-0.42	0.44852	N	0.064	0.06854	-1.0711	0.09173	T	0.069	0.28213	T	8	0.09232676	0.16248	T	0.002834	0.05927	T	0.051	0.14325	0.305	0.27485	0.466398759226	0.46266	0.06820604706504414	0.06758	0.117798957203	0.13266	0.243245497346	0.03090	T	0.004769	0.29884	T	-0.363716	0.03924	T	-0.760229	0.03104	T	0.126384019810022	0.15044	T	.	.	.	0.03647102	0.04493	0.042878274	0.05207	0.03647102	0.04493	0.042878274	0.05206	-3.2	0.12480	T	.	.	0.096	0.22680	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.213501	0.00517	0.012	0.97617689380866945	0.34943	0.00296	0.01581	N	AEFGBI	0.039833	0.05841	N	-1.55336488752347	0.01515	0.0661624	-1.71061403216058	0.01091	0.04900643	0.848593234499879	0.25001	0.581397	0.33459	0	0.588066	0.40923	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	3.1	-6.2	0.01894	-1.918000	0.01665	-7.054000	0.01242	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1317:0.1433:0.2414:0.4836	1.944	0.03149	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	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	1013.98	33	chr12	12079679	.	C	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.090e-01;DP=792;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.951;SOR=1.129	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1028,0,1359	20	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	.	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	3.4	M	1.14	T	-0.338	T	0.280	T	0.724	3.966	20.3	3.05	1.535	6.995	11.616	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 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	0.1	441.68	95	chr12	31091731	.	C	T	441.68	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.645e+00;DP=2064;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1259;MLEAC=4;MLEAF=0.100;MQ=48.01;MQRankSum=-5.652e+00;QD=0.79;ReadPosRankSum=-2.792e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:142,19:161:22:22,0,3975	16	0	4	1
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	0/1:45,20,5:70:99:.:.:161,0,1370,249,842,1030	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	0/1:45,20,5:70:99:.:.:161,0,1370,249,842,1030	2	0	14	4
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.014	B	0.05	B	0.000	D	1.000	D	0.75	N	-1.01	T	-0.745	T	0.273	T	0.19	2.602	14.66	4.49	2.533	5.695	14.373	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	835.24	35	chr12	39764778	.	G	A	835.24	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-2.930e+00;DP=1096;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2409;MLEAC=5;MLEAF=0.156;MQ=60.00;MQRankSum=0.00;QD=2.54;ReadPosRankSum=0.399;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,5:68:18:.:.:18,0,2225	10	0	6	5
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|1:1008,214,0:1222:99:0|1:40482890_T_A:4810,0,39726,7833,40368,48200:40482890	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|1:1106,113,0:1219:99:0|1:40482890_T_A:1416,0,46007,4743,45496,50104:40482890	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|1:1139,87,0:1226:99:0|1:40482890_T_A:225,0,47471,3652,46882,50398:40482890	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	0/1:492,496,0:988:99:12706,0,12900,14688,15264,34790	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	0/1:461,482,0:943:99:12930,0,11869,14308,13315,27623	4	9	7	0
chr12	40483097	40483127	AAGTGACAGGGACAACTAGACTATCAGCTGG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	53348.35	934	chr12	40483097	.	AAGTGACAGGGACAACTAGACTATCAGCTGG	*,A	53348.35	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=3.48;DP=17275;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.1809;MLEAC=1,4;MLEAF=0.028,0.111;MQ=59.58;MQRankSum=0.00;QD=15.51;ReadPosRankSum=0.406;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:537,0,380:917:99:.:.:9849,11464,33502,0,22038,20894	14	0	1	3
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|1:1006,83:1089:99:0|1:40487405_G_C:457,0,41888:40487405	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|2:1011,0,106,0:1117:99:0|1:40487405_G_C:1408,4451,46859,0,42408,42089,4451,46859,42408,46859:40487405	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|2:1011,0,106,0:1117:99:0|1:40487405_G_C:1408,4451,46859,0,42408,42089,4451,46859,42408,46859:40487405	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|1:997,90:1087:99:0|1:40487405_G_C:693,0,40881:40487405	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|2:990,0,90:1080:99:0|1:40487405_G_C:708,3698,44563,0,40865,40594:40487405	3	0	6	3
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	6754.42	821	chr12	40488214	.	G	T,*	6754.42	.	AC=4,2;AF=0.125,0.063;AN=32;BaseQRankSum=4.72;DP=14240;ExcessHet=1.8958;FS=4.372;InbreedingCoeff=-0.1785;MLEAC=5,2;MLEAF=0.156,0.063;MQ=58.50;MQRankSum=-1.232e+01;QD=1.41;ReadPosRankSum=-7.774e+00;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:575,95,0:670:99:0|1:40488165_C_T:2257,0,23829,3989,24115,28104:40488165	10	0	4	5
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:574,76,0:650:99:0|1:40488165_C_T:1463,0,23873,3191,24102,27293:40488165	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:572,0,71,0:643:99:0|1:40488165_C_T:1259,2981,26999,0,24018,23804,2981,26999,24018,26999:40488165	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:572,0,48:620:99:0|1:40488165_C_T:294,2016,26034,0,24018,23874:40488165	10	0	2	3
chr12	40488783	40488783	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	705	771	16	24	6	70	0.0398506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248728457	0	4.498e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0050	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0	0	0.0005	0	0.0004	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	0.2	770.68	934	chr12	40488783	.	G	A,GTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	770.68	.	AC=1,1;AF=0.100,0.100;AN=10;BaseQRankSum=-1.239e+00;DP=19913;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.1906;MLEAC=2,2;MLEAF=0.200,0.200;MQ=58.19;MQRankSum=-2.161e+01;QD=0.51;ReadPosRankSum=-7.200e-02;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:534,48,0:582:99:0|1:40488711_C_G:400,0,22264,1972,22415,24382:40488711	3	0	1	16
chr12	40488783	40488783	-	TGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	770.68	934	chr12	40488783	.	G	A,GTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGT	770.68	.	AC=1,1;AF=0.100,0.100;AN=10;BaseQRankSum=-1.239e+00;DP=19913;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.1906;MLEAC=2,2;MLEAF=0.200,0.200;MQ=58.19;MQRankSum=-2.161e+01;QD=0.51;ReadPosRankSum=-7.200e-02;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:534,48,0:582:99:0|1:40488711_C_G:400,0,22264,1972,22415,24382:40488711	3	0	1	16
chr12	40488784	40488784	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	712	764	16	24	6	70	0.040201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1262902283	4.642e-05	0.0005	3.617e-05	5.836e-05	5.074e-05	3.325e-05	2.897e-05	3.634e-05	3.166e-05	0	0	0	0	0	0	5.074e-05	0	0	0.0012	0.0098	0.0013	0.0011	0.0017	0.0010	0.0009	0.0012	0.0011	0.0007	0.0026	0.0011	0.0023	0.0010	0.0006	0.0116	0.0017	0.0015	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	0.1	366.69	969	chr12	40488784	.	G	A	366.69	.	AC=1;AF=0.100;AN=10;BaseQRankSum=0.320;DP=19824;ExcessHet=0.0000;FS=0.752;InbreedingCoeff=-0.1375;MLEAC=2;MLEAF=0.200;MQ=58.40;MQRankSum=-1.624e+01;QD=0.64;ReadPosRankSum=-8.258e+00;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:530,45:623:99:0|1:40488711_C_G:370,0,22099:40488711	4	0	1	16
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	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	0.2222	243.92	150	chr12	40509053	.	T	A	243.92	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-5.870e-01;DP=3382;ExcessHet=0.6776;FS=1.041;InbreedingCoeff=-0.3078;MLEAC=6;MLEAF=0.333;MQ=59.49;MQRankSum=-1.058e+01;QD=0.36;ReadPosRankSum=2.61;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,13:189:16:0|1:40509053_T_A:16,0,7351:40509053	5	0	4	12
chr12	41573505	41573505	G	T	exonic	PDZRN4	.	nonsynonymous SNV	PDZRN4:NM_013377:exon8:c.G1952T:p.R651L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.935	D	0.000	D	1.000	D	2.165	M	0.85	T	-0.574	T	0.268	T	0.601	3.473	17.78	5.34	2.890	5.321	13.220	0.240	0.0272032187023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.959	0.62325	D	0.621	0.67021	P	0.000120	0.50451	D	0.081704	0.999966	0.52935	D	2.44	0.70756	M	0.85	0.47130	T	-5.76	0.89871	D	0.533	0.70790	-0.5739	0.65860	T	0.268	0.63897	T	10	0.67680347	0.71040	D	0.027203	0.50036	D	0.240	0.54500	0.424	0.46857	0.789849054134	0.78790	0.35685984664631104	0.35599	0.548449671167	0.51785	0.706968963146	0.68154	T	0.206056	0.56528	T	-0.0217891	0.48597	T	-0.269075	0.47912	T	0.996186196804047	0.88832	D	0.989701	0.96679	D	0.6019628	0.72796	0.58931303	0.76174	0.6019628	0.72797	0.58931303	0.76175	-12.886	0.88888	D	.	.	0.658	0.71241	P	.;.;.;.	.;.;.;.	4.711053	0.75686	26.4	0.99811529912975494	0.89531	0.96760	0.70792	D	AEFBI	0.785465	0.71584	D	0.701956432343782	0.79761	7.146348	0.680455298596931	0.80896	7.402071	0.220376603591332	0.18348	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	5.453000	0.66386	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.074:0.0:0.926:0.0	13.220	0.59305	789	0.46346	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2306.98	33	chr12	41573505	.	G	T	2306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.190e-01;DP=956;ExcessHet=0.0000;FS=0.596;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=1.81;SOR=0.603	GT:AD:DP:GQ:PL	0/1:69,90:159:99:2321,0,1703	20	0	1	0
chr12	47078725	47078725	G	A	exonic	AMIGO2	.	nonsynonymous SNV	AMIGO2:NM_181847:exon2:c.C278T:p.A93V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.0	B	0.0	B	0.143	N	1.000	N	0.73	N	4.35	T	-0.920	T	0.005	T	0.044	-0.732	0.872	-2.65	-0.520	0.180	1.662	0.011	0.00329339175713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.297	0.20551	T	0.0	0.02946	B	0.0	0.01387	B	0.143263	0.02902	N	1.757900	1	0.08975	N	1.16	0.29674	L	4.35	0.02319	T	-0.58	0.17417	N	0.023	0.00571	-0.9197	0.45594	T	0.005	0.01833	T	10	0.0357289	0.01836	T	0.003293	0.07298	T	0.011	0.01250	0.443	0.49975	0.193917141947	0.19028	0.19532729245791014	0.19449	0.399366746743	0.40966	0.258934676647	0.04765	T	0.032971	0.22716	T	-0.37618	0.03293	T	-0.778133	0.02510	T	0.0633139386773109	0.07679	T	0.617538	0.23656	T	0.044194277	0.07020	0.033464987	0.02245	0.044194277	0.07020	0.033464987	0.02245	-3.39	0.14922	T	.	.	0.062	0.01600	B	.;.;.	.;.;.	0.885840	0.12589	9.119	0.83802129767418909	0.14928	0.05536	0.11429	N	AEFDGBCI	0.058539	0.10990	N	-1.30224784531831	0.03650	0.1634149	-1.35820744237327	0.03710	0.1736191	0.999999943040771	0.74766	0.660085	0.49399	0	0.563428	0.19063	0	0.673471	0.61138	0	0.651492	0.60203	0	.	.	3.94	-2.65	0.05739	0.204000	0.17133	1.783000	0.28733	-0.116000	0.14526	0.000000	0.06391	0.001000	0.17328	0.536000	0.29845	0.2607:0.1381:0.3886:0.2126	1.662	0.02626	648	0.63242	.;.;.	.	.	.	.	.	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	2364.98	41	chr12	47078725	.	G	A	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.212e+00;DP=1001;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-3.066e+00;SOR=0.718	GT:AD:DP:GQ:PL	0/1:127,103:230:99:2379,0,3143	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|1:65,22,0:87:99:0|1:52949249_G_A:728,0,2663,924,2729,3653:52949249	0	0	20	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:74,27:103:37:37,0,1590	6	0	10	5
chr12	56106718	56106718	-	AA	splicing	PA2G4	NM_006191:exon2:c.217+2->AA	.	.	.	.	12	180	28	5	1	39	0.0954774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0014	0.0031	0.0003	0.0096	0.0002	0.0004	0.0028	0.0011	0.0002689	7	26028	rs34728522	0.0009	0.0013	0.0009	0.0009	0.0130	0.0009	0.0008	0.0120	0.0116	0.0040	0.0004	0.0006	0.0130	0.0003	0.0002	0.0003	0.0026	0.0011	0.0013	0.0014	0.0013	0.0013	0.0126	0.0011	0.0011	0.0101	0.0092	0.0016	0	0.0018	0.0006	0.0126	0	0	0.0002	0.0069	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	4355.8	33	chr12	56106718	.	T	TA,TAA	4355.8	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=1.16;DP=919;ExcessHet=0.0409;FS=3.717;InbreedingCoeff=0.2976;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-9.390e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:32,41,0:77:99:841,0,659,1020,772,1925	17	0	3	0
chr12	56270210	56270210	G	C	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_001099337:exon5:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.938	P	0.874	P	0.000	D	1.000	D	2.525	M	1.46	T	-0.801	T	0.192	T	0.71	4.920	28.4	4.96	2.746	9.249	17.517	0.217	0.010828468459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.04	0.50809	D	0.938	0.52538	P	0.874	0.62049	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.43	0.32958	T	-2.21	0.49684	N	0.714	0.71676	-0.8007	0.55103	T	0.192	0.54492	T	10	0.727894	0.74097	D	0.010828	0.27810	T	0.217	0.51112	0.699	0.83592	0.512021964565	0.50844	0.6356950363655839	0.63503	0.864914079096	0.69159	0.823466300964	0.85559	D	0.127331	0.45429	T	0.0724855	0.61149	D	-0.133656	0.60664	T	0.911658483548394	0.56729	D	0.940206	0.77406	D	0.37227407	0.58753	0.34089497	0.59836	0.37227407	0.58753	0.34089497	0.59835	-9.143	0.68613	D	.	.	0.929	0.85176	P	.;.;.	.;.;.	4.982225	0.82536	27.8	0.9977931989567298	0.86606	0.99286	0.93967	D	AEFDBCI	0.915484	0.88032	D	0.823174144344843	0.87531	9.250757	0.800860528185597	0.89854	10.14908	0.999999999997406	0.74766	0.706548	0.73137	0	0.552637	0.17590	0	0.724815	0.87919	0	0.549297	0.17558	0	.	.	4.96	4.96	0.65153	9.910000	0.98672	11.833000	0.97585	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.517	0.87673	362	0.84826	Coenzyme Q-binding protein COQ10, START 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	0.06667	132.16	99	chr12	56270210	.	G	C	132.16	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-4.192e+00;DP=1937;ExcessHet=0.1072;FS=227.043;InbreedingCoeff=-0.1399;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.49;ReadPosRankSum=0.826;SOR=10.236	GT:AD:DP:GQ:PL	0/1:118,52:170:53:53,0,2003	13	0	2	6
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,16:91:99:.:.:161,0,1608	11	0	10	0
chr12	57037582	57037582	C	T	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon19:c.G2021A:p.G674D	.	.	1	1508	12	1	0	14	0.00462046	.	.	228209	Autosomal_dominant_nonsyndromic_hearing_loss_48|MYO1A-related_disorder|not_provided	MONDO:MONDO:0011920,MedGen:C1842939,OMIM:607841,Orphanet:90635|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.58	H	-5.07	D	1.016	D	0.984	D	0.989	4.760	26.7	4.96	2.322	5.580	13.705	0.976	0.432915614909	0.0002	.	0.0005	9.754e-05	0.0010	0	0	0.0007	0.0011	0.0002	0.0004657	72	154602	rs148808080	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0019	0.0015	0.0002	0.0014	0.0055	0	1.872e-05	0.0029	0.0002	0.0009	0.0003	0.0005	0.0005	0.0005	0.0005	0.0013	0.0004	0.0004	0.0009	0.0007	0.0002	0	0.0013	0.0046	0	0	0.0034	0.0004	0.0019	0.0006	0.002	0.72154	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	4.155	0.97600	H	-5.07	0.98648	D	-6.82	0.92980	D	0.787	0.78356	1.016	0.97455	D	0.984	0.99505	D	10	0.31688666	0.49104	T	0.432916	0.94017	D	0.976	0.99783	.	.	0.985288132568	0.98513	0.8676491767276238	0.86729	0.519325346913	0.49757	0.702072679996	0.67443	T	0.860453	0.96899	D	0.262072	0.79719	D	0.563138	0.95988	D	0.215399846460493	0.21232	T	0.884712	0.60854	D	0.90506554	0.91840	0.9547742	0.98681	0.90506554	0.91841	0.9547742	0.98681	-16.597	0.98526	D	.	.	0.987	0.92791	P	.;.	.;.	4.879209	0.80008	27.2	0.99851493737844987	0.93102	0.90256	0.51289	D	AEFDBCI	0.858398	0.77591	D	0.99006308134703	0.95430	13.61283	0.857070259153314	0.93423	12.03226	0.999999999928499	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.96	4.96	0.65153	5.690000	0.67904	6.010000	0.52630	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	13.705	0.62115	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	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	1	0	0.04762	3790.11	33	chr12	57037582	.	C	T	3790.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.920e-01;DP=950;ExcessHet=0.1072;FS=1.384;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.639;SOR=0.635	GT:AD:DP:GQ:PL	0/1:62,99:161:99:2342,0,1366	19	0	2	0
chr12	57248777	57248777	T	G	exonic	STAC3	.	nonsynonymous SNV	STAC3:NM_001286256:exon3:c.A244C:p.K82Q	Native American myopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.999	D	0.995	D	0.000	D	1.000	D	0.905	L	-3.06	D	0.616	D	0.774	D	0.599	4.647	25.5	5.36	2.162	7.501	14.649	0.702	0.14058696165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.51853	T	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.92	0.23413	L	-3.06	0.92457	D	-2.72	0.62863	D	0.834	0.83987	0.616	0.92110	D	0.774	0.92328	D	10	0.80040896	0.79451	D	0.140587	0.82303	D	0.702	0.89284	0.54	0.65161	0.925050646364	0.92428	0.5537554533640751	0.55301	1.1118641095	0.78077	0.806766986847	0.82996	D	0.660406	0.89802	D	0.170275	0.71148	D	0.0068112	0.70777	D	0.993096649646759	0.83765	D	0.943606	0.82627	D	0.4729091	0.65469	0.32240853	0.58181	0.4729091	0.65469	0.32240853	0.58180	-9.73	0.72279	D	0.7634066317134691	0.84504	0.755	0.76663	P	.;.;.	.;.;.	5.053894	0.84195	28.2	0.99439451316203675	0.64670	0.97612	0.75899	D	AEFDGBI	0.922780	0.89826	D	0.614339985880794	0.74080	6.072432	0.64344319907182	0.78123	6.813446	0.999999999996329	0.74766	0.562547	0.31514	0	0.581341	0.33841	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	5.36	5.36	0.76624	7.475000	0.80038	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.649	0.68385	460	0.78750	.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1732.98	36	chr12	57248777	.	T	G	1732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.920;SOR=0.749	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1747,0,1350	20	0	1	0
chr12	69258588	69258588	A	C	splicing	CPSF6	NM_007007:exon6:c.695-2A>C;NM_001300947:exon7:c.806-2A>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.223	13.39	5.53	2.237	6.524	15.986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132532	0.67608	D	-0.0474037	0.67201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.546865	0.95383	35	0.9925658129461985	0.57055	0.99559	0.97436	D	AEFBI	.	.	.	1.06827620712339	0.97500	16.23617	0.91311047384188	0.96119	14.32376	0.994028231221017	0.33455	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.221052	0.04502	0	0.962768	0.66769	5.53	5.53	0.82530	6.517000	0.73669	11.130000	0.86775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.986	0.79947	878	0.29785	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	63.1	36	chr12	69258588	.	A	C	63.1	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-8.650e-01;DP=946;ExcessHet=0.1072;FS=49.726;InbreedingCoeff=-0.2449;MLEAC=4;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=2.53;SOR=5.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,9:52:31:.:.:31,0,1025	7	0	2	12
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	0/2:3,0,4,0:7:43:43,64,138,0,67,68,62,132,49,139	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	0/2:3,0,4,0:7:43:43,64,138,0,67,68,62,132,49,139	3	0	8	0
chr12	75050500	75050500	T	G	exonic	KCNC2	.	nonsynonymous SNV	KCNC2:NM_001260497:exon3:c.A1505C:p.Q502P	.	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.993	D	0.769	P	0.047	N	1.000	D	1.385	L	-4.37	D	0.794	D	0.881	D	0.761	2.169	13.21	4.9	1.070	5.166	12.357	0.636	0.13166270549	7.7e-05	0.000599042	0.0006	0	0.0003	0	0.0002	0.0003	0.0011	0.0027	0.0005239	81	154602	rs201880430	0.0003	0.0003	0.0002	0.0003	0.0025	0.0003	0.0003	0.0023	0.0022	0	0.0002	0.0003	5.039e-05	7.489e-05	0.0005	0.0001	0.0005	0.0025	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.245e-05	0.0008	0.0006	4.817e-05	0	0.0002	0.0009	0	0	0	0.0001	0	0.0017	0.042	0.43708	D	0.075	0.43721	T	0.022	0.65571	B	0.045	0.56777	B	0.047381	0.23351	N	0.412335	0.999969	0.52935	D	1.755	0.45626	L	-4.4	0.97444	D	-2.52	0.55501	D	0.545	0.62442	0.794	0.94334	D	0.881	0.96052	D	10	0.017092079	0.00363	T	0.131663	0.81393	D	0.636	0.86078	.	.	0.827528949762	0.82590	0.724287530055627	0.72372	1.88409368239	0.92644	0.578383088112	0.49858	T	0.291554	0.66430	T	-0.0188492	0.49018	T	0.196157	0.82918	D	0.0687034698322956	0.08468	T	0.911409	0.69449	D	0.43796042	0.63270	0.4250014	0.66322	0.43796042	0.63271	0.4250014	0.66323	-8.087	0.63418	D	.	.	0.067	0.03093	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.167574	0.42947	21.6	0.98214299226666169	0.39237	0.96429	0.69096	D	AEFDI	0.911166	0.87006	D	0.0386268475719433	0.43620	2.651	0.187733779273569	0.49175	3.123806	0.625636935611295	0.21923	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	4.9	0.63643	5.146000	0.64688	6.520000	0.55830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.13:0.0:0.0:0.87	12.357	0.54507	928	0.17405	.;.;.;.;.;.;.	.	.	.	.	.	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	1288.98	37	chr12	75050500	.	T	G	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.680e-01;DP=845;ExcessHet=0.0000;FS=5.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=-9.850e-01;SOR=0.934	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1303,0,1657	20	0	1	0
chr12	89491946	89491946	G	A	exonic	POC1B	.	nonsynonymous SNV	POC1B:NM_001199777:exon3:c.C316T:p.R106C	Cone-rod dystrophy 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.5	P	0.096	B	0.000	D	1.000	D	1.795	L	0.06	T	-0.820	T	0.171	T	0.85	3.438	17.63	4.58	2.676	5.406	8.667	0.321	0.0296361415819	.	.	1.749e-05	0	8.702e-05	0	0	0	0	8.661e-05	1.29e-05	2	154602	rs759962945	1.87e-05	2.668e-05	1.852e-05	1.888e-05	0.0001	1.301e-05	1.105e-05	3.541e-05	2.144e-05	0	3.291e-05	0	0.0001	0	0	1.482e-05	1.756e-05	5.361e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.46129	D	0.093	0.92824	T	0.5	0.37145	P	0.096	0.30313	B	0.000004	0.62929	D	0.102279	1	0.81001	D	1.59	0.40313	L	0.06	0.61798	T	-7.24	0.96005	D	0.407	0.45709	-0.8196	0.53959	T	0.171	0.51245	T	10	0.30270848	0.47806	T	0.029636	0.52109	D	0.321	0.64318	0.58	0.70604	0.688294374877	0.68562	0.47486908772652975	0.47405	0.101699149818	0.11504	.	.	.	0.261891	0.63341	T	0.225159	0.76263	D	0.0856486	0.75954	D	0.784017503261566	0.45303	D	0.982268	0.94010	D	0.37001753	0.58586	0.305403	0.56567	0.37001753	0.58587	0.305403	0.56566	-10.407	0.76311	D	0.35033846036965155	0.44758	0.277	0.60232	B	.;.;.;.	.;.;.;.	5.151441	0.86283	28.9	0.99933059127400037	0.99488	0.93641	0.58776	D	AEFBI	0.545143	0.55978	D	0.223792278871349	0.52354	3.410105	0.328238345266189	0.57204	3.885463	0.83575685873704	0.24775	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.66	4.58	0.56077	4.143000	0.57817	9.716000	0.81349	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0821:0.0:0.6649:0.253	8.667	0.33289	923	0.18507	WD40-repeat-containing domain;WD40-repeat-containing 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	980.98	33	chr12	89491946	.	G	A	980.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=0.596;SOR=0.716	GT:AD:DP:GQ:PL	0/1:81,45:126:99:995,0,1793	20	0	1	0
chr12	95057644	95057644	C	T	splicing	NR2C1	NM_003297:exon7:c.693-1G>A;NM_001032287:exon7:c.693-1G>A;NM_001127362:exon7:c.693-1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.651	18.56	5.6	2.646	6.862	19.619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421294	0.91087	D	0.367383	0.90976	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.472300	0.91285	32	0.99539880796564151	0.70461	0.99587	0.97729	D	AEFDBIJ	.	.	.	1.16087175874797	0.99108	20.71613	1.01267827571923	0.98857	19.63785	0.999999991038807	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.137589	0.03823	0	0.117559	0.03655	0	0.988867	0.97604	5.6	5.6	0.84997	5.479000	0.66538	7.634000	0.62871	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	19.619	0.95641	930	0.16408	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2513.98	33	chr12	95057644	.	C	T	2513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.020e-01;DP=891;ExcessHet=0.0000;FS=4.251;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-3.870e-01;SOR=0.451	GT:AD:DP:GQ:PL	0/1:84,103:187:99:2528,0,2108	20	0	1	0
chr12	96644252	96644252	A	G	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon33:c.A4391G:p.Y1464C	.	.	435	1006	76	5	0	86	0.0409914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.939	D	.	.	1.000	N	0.69	N	.	.	-1.056	T	0.101	T	0.258	2.331	13.75	2.03	0.407	0.929	4.068	0.045	.	.	0.00539137	0.0157	0.0018	0.0053	0	0	0.0033	0.0379	0.0228	0.0018111	280	154602	rs139585468	0.0034	0.0032	0.0028	0.0041	0.0227	0.0033	0.0033	0.0218	0.0214	0.0004	0.0017	0.0027	2.8e-05	0.0003	0.0167	0.0023	0.0045	0.0227	0.0023	0.0023	0.0022	0.0025	0.0207	0.0021	0.0020	0.0174	0.0162	0.0004	0	0.0021	0.0026	0	0.0004	0.0204	0.0025	0.0062	0.0207	0.098	0.30800	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.53	0.54864	D	0.181	0.19593	-1.0564	0.12672	T	0.101	0.37316	T	8	0.004707128	0.00099	T	.	.	.	0.045	0.12272	.	.	.	.	0.11571836064207504	0.11499	0.21363709283	0.23881	.	.	.	0.036455	0.24111	T	-0.478618	0.00753	T	-0.441354	0.28656	T	0.0568574764330956	0.06664	T	0.59504	0.22051	T	0.06205746	0.12919	0.075704	0.16694	0.06205746	0.12919	0.075704	0.16693	-3.584	0.17625	T	.	.	0.123	0.25753	B	.	.	1.922702	0.24423	16.39	0.98221739336697234	0.39307	0.04543	0.10179	N	AEFDBI	0.068212	0.13445	N	-0.294965559260088	0.29341	1.626314	-0.460629481799266	0.23248	1.26682	3.00497051045635E-6	0.01202	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.68	2.03	0.25714	1.134000	0.31055	1.238000	0.25088	0.740000	0.86194	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.6819:0.0:0.1651:0.153	4.068	0.09346	610	0.67008	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1584.98	33	chr12	96644252	.	A	G	1584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=794;ExcessHet=0.0000;FS=1.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.68;ReadPosRankSum=1.06;SOR=0.510	GT:AD:DP:GQ:PL	0/1:48,60:108:99:1599,0,1170	20	0	1	0
chr12	100037647	100037647	T	C	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon21:c.A4384G:p.T1462A,	.	.	.	.	.	.	.	.	.	.	.	3291112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.0	B	0.244	N	0.972	D	0.345	N	2.99	T	-0.994	T	0.014	T	0.085	-0.038	3.821	0.076	0.087	0.438	5.889	0.056	0.00435868917151	0.0002	.	0.0003	9.647e-05	0	0	0	0.0004	0.0011	0.0005	0.0002781	43	154602	rs144439125	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0019	0.0015	0	0.0002	0.0008	0	0	0.0030	0.0002	0.0004	0.0005	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	4.824e-05	0	0.0001	0.0020	0	0	0	0.0002	0.0005	0.0002	0.365	0.14743	T	0.328	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.243968	0.15651	N	0.644376	0.999993	0.08975	N	1.355	0.33814	L	2.99	0.09262	T	-0.97	0.28906	N	0.041	0.03956	-0.9938	0.31617	T	0.014	0.05753	T	10	0.015911102	0.00334	T	0.004359	0.10624	T	0.056	0.15993	.	.	0.043077524339	0.03247	0.11958438577316632	0.11885	0.114344148871	0.12892	0.367884039879	0.20527	T	0.001663	0.15779	T	-0.56788	0.00228	T	-0.699463	0.05855	T	0.00941299675094403	0.00121	T	0.661834	0.27067	T	0.067395814	0.14591	0.043780204	0.05526	0.067395814	0.14591	0.043780204	0.05525	-4.128	0.25701	T	.	.	0.069	0.04806	B	.;.	.;.	1.353259	0.17613	13.27	0.74831218863303828	0.10843	0.39113	0.26140	N	AEFBI	0.084812	0.17191	N	-0.62329975053083	0.18246	0.9457326	-0.50879685959633	0.21913	1.187738	0.00291953011120681	0.09795	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	0.076	0.13714	0.671000	0.24853	-0.388000	0.09495	0.665000	0.62972	0.969000	0.34210	0.347000	0.24452	0.902000	0.43815	0.0:0.2394:0.2597:0.5009	5.889	0.18143	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	1	0	0	0	0.02381	1839.98	35	chr12	100037647	.	T	C	1839.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=818;ExcessHet=0.0000;FS=0.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=-1.020e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:52,74:126:99:1854,0,1125	20	0	1	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|1:122,19,0,0,0:141:99:0|1:103984920_G_GA:420,0,5047,790,5104,5894,790,5104,5894,5894,790,5104,5894,5894,5894:103984920	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|1:122,19,0,0,0:141:99:0|1:103984920_G_GA:420,0,5047,790,5104,5894,790,5104,5894,5894,790,5104,5894,5894,5894:103984920	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|1:122,19,0,0,0:141:99:0|1:103984920_G_GA:420,0,5047,790,5104,5894,790,5104,5894,5894,790,5104,5894,5894,5894:103984920	10	0	6	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1501.77	35	chr12	103984922	.	T	G,TTAAGGA	1501.77	.	AC=6,1;AF=0.167,0.028;AN=36;BaseQRankSum=4.51;DP=2009;ExcessHet=2.5830;FS=10.970;InbreedingCoeff=-0.2537;MLEAC=7,1;MLEAF=0.194,0.028;MQ=58.73;MQRankSum=-1.024e+01;QD=1.56;ReadPosRankSum=-4.344e+00;SOR=2.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,19,0:141:99:0|1:103984920_G_GA:421,0,5047,790,5104,5893:103984920	11	0	6	3
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|2:82,0,22,0:104:99:0|1:103985728_A_ATTGAGAGC:669,918,4325,0,3407,3340,918,4325,3407,4325:103985728	11	0	2	0
chr12	106247599	106247599	-	GGA	exonic	CKAP4	.	nonframeshift insertion	CKAP4:NM_006825:exon1:c.252_253insTCC:p.S84_A85insS,	.	.	397	1116	8	1	0	10	0.0044603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0081869	0.0107	0	0	0.0104	.	0.0105	0.0161	0.0112	0.0008279	128	154602	rs576389141	0.0074	0.0073	0.0074	0.0074	0.0227	0.0072	0.0072	0.0210	0.0204	0.0009	0.0078	0.0097	0.0227	0.0253	0.0017	0.0069	0.0061	0.0054	0.0083	0.0088	0.0068	0.0098	0.0125	0.0079	0.0077	0.0099	0.0090	0.0015	0	0.0092	0.0118	0.0125	0.0350	0	0.0081	0.0079	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	142.21	13	chr12	106247599	.	C	CGGA	142.21	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=291;ExcessHet=0.0000;FS=7.635;InbreedingCoeff=-0.0392;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.78;ReadPosRankSum=-9.760e-01;SOR=1.103	GT:AD:DP:GQ:PL	0/1:4,4:8:99:156,0,156	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	2|2:0,0,57:57:99:1|1:111598949_GGCT_G:2400,2400,2400,172,172,0:111598949	2	0	0	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	0/2:37,0,14,0,4,0:59:99:433,565,1484,0,1029,1569,565,1484,1029,1484,494,1385,902,1385,1426,565,1484,1029,1484,1385,1484	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	0/2:37,0,14,0,4,0:59:99:433,565,1484,0,1029,1569,565,1484,1029,1484,494,1385,902,1385,1426,565,1484,1029,1484,1385,1484	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	0/2:37,0,14,0,4,0:59:99:433,565,1484,0,1029,1569,565,1484,1029,1484,494,1385,902,1385,1426,565,1484,1029,1484,1385,1484	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	0/2:37,0,14,0,4,0:59:99:433,565,1484,0,1029,1569,565,1484,1029,1484,494,1385,902,1385,1426,565,1484,1029,1484,1385,1484	4	0	0	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	2/2:0,0,57,0,0:57:99:2309,2310,2311,170,171,0,2310,2311,171,2311,2310,2311,171,2311,2311	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	2/2:0,0,57,0,0:57:99:2309,2310,2311,170,171,0,2310,2311,171,2311,2310,2311,171,2311,2311	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	2/2:0,0,57,0,0:57:99:2309,2310,2311,170,171,0,2310,2311,171,2311,2310,2311,171,2311,2311	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	2/2:0,0,57,0,0:57:99:2309,2310,2311,170,171,0,2310,2311,171,2311,2310,2311,171,2311,2311	0	1	2	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.998	D	0.003	N	1.000	D	1.845	L	0.62	T	-0.650	T	0.234	T	0.718	2.255	13.50	3.75	2.104	7.850	9.914	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	108.83	104	chr12	124430757	.	G	A	108.83	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.957e+00;DP=2018;ExcessHet=0.1072;FS=180.413;InbreedingCoeff=-0.0643;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.49;SOR=10.713	GT:AD:DP:GQ:PL	0/1:125,54:190:76:76,0,1631	18	0	2	1
chr12	124967176	124967176	G	A	exonic	DHX37	.	nonsynonymous SNV	DHX37:NM_032656:exon11:c.C1451T:p.A484V,	.	.	387	1134	1	0	0	1	0.000440723	.	.	2091267	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.47	T	0.146	B	0.018	B	0.027	N	1.000	N	1.095	L	2.71	T	-1.019	T	0.026	T	0.225	1.858	12.17	4.0	1.072	5.167	12.765	0.052	0.00421589633447	0.0009	0.000798722	0.0007	0.0013	0	0	0.0002	0.0009	0	0.0001	0.000718	111	154602	rs150152903	0.0012	0.0012	0.0012	0.0012	0.0014	0.0011	0.0011	0.0014	0.0013	0.0009	0.0002	3.826e-05	5.038e-05	0.0007	0	0.0014	0.0005	3.478e-05	0.0010	0.0010	0.0010	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0010	0	6.538e-05	0	0.0002	0.0005	0	0.0015	0.0005	0.0002	0.459	0.08762	T	0.517	0.15698	T	0.146	0.27821	B	0.018	0.18489	B	0.027126	0.25807	N	0.442255	1	0.08975	N	1.785	0.46417	L	2.71	0.12055	T	-2.35	0.51968	N	0.319	0.35938	-1.0194	0.23910	T	0.026	0.11176	T	10	0.02716723	0.00868	T	0.004216	0.10153	T	0.052	0.14661	.	.	0.255117706274	0.25116	0.45265242930825367	0.45183	0.425612778913	0.42963	0.539462804794	0.44369	T	0.044042	0.26692	T	-0.534563	0.00361	T	-0.565267	0.15886	T	0.0468646569399444	0.04940	T	0.861714	0.55578	D	0.039766748	0.05553	0.0722454	0.15564	0.05061894	0.09171	0.09029849	0.21166	-8.642	0.65365	D	0.1479039210928225	0.17179	0.114	0.22573	B	.;.	.;.	3.379557	0.46740	22.3	0.99180132949967981	0.54643	0.95247	0.63985	D	AEFDBI	0.389711	0.46882	N	-0.298234874716249	0.29216	1.61827	-0.196991604990045	0.31647	1.792958	0.0488718952172366	0.14785	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	4.0	0.45673	5.256000	0.65286	7.378000	0.58437	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.238000	0.22948	0.0803:0.0:0.9197:0.0	12.765	0.56763	946	0.12043	Helicase, C-terminal;Helicase, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1812.98	36	chr12	124967176	.	G	A	1812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.112;DP=896;ExcessHet=0.0000;FS=1.363;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.06;SOR=0.545	GT:AD:DP:GQ:PL	0/1:62,76:138:99:1827,0,1352	20	0	1	0
chr12	128823720	128823720	C	G	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon1:c.G224C:p.S75T,	.	.	430	1067	25	0	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.911	P	0.288	B	0.000	D	1.000	D	1.045	L	0.2	T	-0.817	T	0.130	T	0.361	3.076	16.27	3.09	1.699	1.666	13.368	0.185	.	.	0.00359425	0.0143	0.0064	0.0084	0	0.016	0.0058	0.0179	0.0260	0.0026132	404	154602	rs201649968	0.0022	0.0022	0.0015	0.0029	0.0210	0.0021	0.0021	0.0201	0.0198	3.364e-05	0.0011	0.0006	0	0.0024	0.0050	0.0010	0.0022	0.0210	0.0018	0.0018	0.0013	0.0024	0.0217	0.0017	0.0016	0.0184	0.0171	0.0002	0	0.0024	0.0014	0	0.0018	0	0.0015	0.0019	0.0217	0.134	0.26300	T	0.123	0.35582	T	0.911	0.50336	P	0.288	0.40614	B	0.000000	0.84330	D	0.000000	0.999714	0.48481	D	1.555	0.39373	L	0.2	0.60111	T	-1.18	0.30140	N	0.252	0.28498	-0.8165	0.54152	T	0.130	0.44069	T	10	0.0073561072	0.00167	T	.	.	.	0.185	0.45933	.	.	0.392702134506	0.38879	0.6876022654233038	0.68700	0.529414267357	0.50504	0.824750304222	0.85758	D	0.071165	0.34140	T	-0.385233	0.02886	T	-0.310541	0.43601	T	0.0739109782447091	0.09190	T	0.676232	0.28483	T	0.51580954	0.68018	0.5467352	0.73798	0.51580954	0.68019	0.5467352	0.73798	-4.578	0.31894	T	.	.	0.296	0.52704	B	.	.	3.217596	0.43821	21.8	0.9841235525098363	0.41191	0.22350	0.21717	N	ALL	0.232192	0.35530	N	0.055181691611221	0.44380	2.71323	0.0655389519096878	0.42828	2.597491	0.999999999999998	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.09	3.09	0.34677	1.335000	0.33444	5.223000	0.48006	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	13.368	0.60139	994	0.00715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2838.98	38	chr12	128823720	.	C	G	2838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.498;DP=1007;ExcessHet=0.0000;FS=0.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-3.360e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:103,126:229:99:2853,0,2204	20	0	1	0
chr13	19642121	19642121	G	A	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon2:c.G220A:p.V74I,	.	.	509	1009	3	1	0	5	0.00247158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.002	B	0.005	B	0.103	N	0.828	N	1.045	L	1.0	T	-0.961	T	0.060	T	0.032	-0.448	1.922	-3.91	-0.796	1.298	12.897	0.098	0.00363378452957	0.0009	.	0.0008	0	0.0008	0	0	0.0013	0.0022	6.384e-05	0.0006986	108	154602	rs142067434	0.0008	0.0008	0.0008	0.0008	0.0028	0.0007	0.0007	0.0016	0.0013	6.66e-05	0.0012	0.0003	0	2.035e-05	0.0028	0.0009	0.0011	7.586e-05	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	0.0002	0.0011	0.0021	0	0	0	0.0038	0.0010	0.0015	0	1.0	0.00964	T	0.687	0.05976	T	0.002	0.09854	B	0.005	0.11217	B	0.102661	0.19784	N	0.572502	0.828031	0.28796	N	0.49	0.13296	N	1.0	0.41392	T	-0.12	0.08809	N	0.046	0.01825	-0.9614	0.38916	T	0.060	0.25127	T	10	0.010495633	0.00233	T	0.003634	0.08340	T	0.098	0.28162	.	.	0.268702046668	0.26493	0.20425201070185647	0.20342	0.19791807694	0.22159	0.33217549324	0.15263	T	0.120253	0.44237	T	-0.608402	0.00130	T	-0.692255	0.06260	T	0.00389830637925087	0.00041	T	0.825517	0.48813	T	0.05246797	0.09791	0.047909882	0.07005	0.05246797	0.09790	0.047909882	0.07005	-2.863	0.08778	T	.	.	0.06	0.00934	B	.	.	0.699781	0.10684	7.381	0.36165035391322187	0.02311	0.32903	0.24698	N	AEFBI	0.086150	0.17466	N	-0.933858889026502	0.10058	0.478834	-0.929144688409752	0.11408	0.5809976	0.381856511312997	0.19968	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.24	-3.91	0.03892	1.326000	0.33341	0.364000	0.17606	0.676000	0.76740	1.000000	0.71638	0.759000	0.26609	0.896000	0.43308	0.4265:0.0:0.5735:0.0	12.897	0.57496	964	0.07719	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1051.98	39	chr13	19642121	.	G	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=939;ExcessHet=0.0000;FS=3.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=0.943;QD=10.52;ReadPosRankSum=2.74;SOR=1.085	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1066,0,1221	20	0	1	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S	.	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.003	B	0.004	B	0.000	D	0.875	D	1.355	L	2.52	T	-1.046	T	0.025	T	0.081	1.269	10.14	3.89	0.878	4.282	8.371	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	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	0.07143	439.72	33	chr13	19705699	.	T	C	439.72	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.880e-01;DP=1098;ExcessHet=0.3300;FS=2.966;InbreedingCoeff=-0.0761;MLEAC=3;MLEAF=0.071;MQ=46.46;MQRankSum=-4.174e+00;QD=1.07;ReadPosRankSum=-1.520e+00;SOR=1.114	GT:AD:DP:GQ:PL	0/1:114,16:130:99:188,0,3155	18	0	3	0
chr13	20983389	20983389	C	T	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon5:c.G2317A:p.A773T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	1.375	L	3.08	T	-1.174	T	0.058	T	0.753	5.201	33	5.05	2.633	7.568	18.664	0.405	0.0161835049468	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs775075244	5.814e-05	5.814e-05	4.9e-05	6.738e-05	7.014e-05	4.809e-05	4.431e-05	5.71e-05	5.28e-05	0	0	0	2.519e-05	1.872e-05	0	7.014e-05	6.623e-05	1.159e-05	7.895e-05	7.883e-05	6.43e-05	9.43e-05	0.0002	4.502e-05	3.516e-05	9.048e-05	7.012e-05	0	0	0	0	0	9.455e-05	0	0.0002	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	1.54	0.38927	L	3.08	0.08460	T	-3.91	0.73042	D	0.891	0.89020	-1.1736	0.00473	T	0.058	0.24354	T	10	0.86170554	0.85394	D	0.016184	0.37308	T	0.405	0.71791	.	.	0.633585638608	0.63058	0.7524685061261687	0.75193	1.50291441138	0.87067	0.714168787003	0.69198	T	0.352541	0.71996	T	-0.190141	0.22238	T	-0.165962	0.57812	T	0.707760870456696	0.41091	D	0.957071	0.83814	D	0.63645065	0.74642	0.67439634	0.80885	0.63645065	0.74643	0.67439634	0.80886	-10.783	0.78454	D	.	.	0.418	0.60555	A	.	.	5.230582	0.87800	29.4	0.99927923256281337	0.99163	0.98794	0.86939	D	AEFDGBI	0.888015	0.82075	D	0.724611740978345	0.81244	7.477343	0.723730868230033	0.84181	8.220873	0.999999999999984	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	7.858000	0.85341	6.010000	0.52630	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.664	0.91440	920	0.19381	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	2810.98	35	chr13	20983389	.	C	T	2810.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.278e+00;DP=932;ExcessHet=0.0000;FS=4.933;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.087;SOR=0.435	GT:AD:DP:GQ:PL	0/1:92,114:206:99:2825,0,2290	20	0	1	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	1/2:4,26,23,0:53:99:1300,487,438,508,0,563,1218,571,627,1283	1	1	4	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|1:270,42,0:312:99:0|1:25097005_A_G:951,0,11211,1764,11337,13101:25097005	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|2:270,0,42:312:99:0|1:25097005_A_G:951,1764,13101,0,11337,11211:25097005	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|2:270,0,42:312:99:0|1:25097005_A_G:951,1764,13101,0,11337,11211:25097005	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|1:273,44,0:317:99:0|1:25097005_A_G:1026,0,11241,1848,11373,13221:25097005	4	0	16	0
chr13	26676631	26676631	T	C	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.T623C:p.M208T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.469	P	0.135	B	0.000	D	1.000	D	2.19	M	0.86	T	-0.844	T	0.155	T	0.863	3.513	17.94	5.77	2.200	7.608	16.066	0.269	0.0231026116929	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs769209646	2.736e-06	2.736e-06	5.445e-06	0	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	1.872e-05	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.469	0.36524	P	0.135	0.33210	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.86	0.46777	T	-3.75	0.71157	D	0.925	0.92901	-0.8440	0.52379	T	0.155	0.48687	T	10	0.594343	0.66556	D	0.023103	0.46041	T	0.269	0.58381	0.301	0.26843	0.117191471859	0.11215	0.5417486398968957	0.54099	0.646625140246	0.58073	0.857486248016	0.90739	D	0.393157	0.75264	T	0.222851	0.76045	D	0.0823333	0.75733	D	0.914670348167419	0.57140	D	0.956104	0.83363	D	0.77613574	0.82417	0.7918367	0.87759	0.77613574	0.82419	0.7918367	0.87760	-6.228	0.48149	T	.	.	0.971	0.89618	P	.	.	3.227704	0.44003	21.8	0.98941219764225419	0.48940	0.97725	0.76683	D	AEFBI	0.885906	0.81684	D	0.380803316447592	0.60382	4.226536	0.491168664623474	0.67403	5.079419	0.99999999996344	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.585000	0.81876	7.782000	0.68692	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.066	0.80674	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	0.07143	224.68	133	chr13	26676631	.	T	C	224.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.769e+00;DP=1407;ExcessHet=0.3300;FS=145.778;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.872;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,35:199:75:0|1:26676631_T_C:75,0,5435:26676631	18	0	3	0
chr13	26676632	26676632	G	A	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_006646:exon7:c.G624A:p.M208I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.033	B	0.013	B	0.000	D	1.000	D	2.19	M	0.9	T	-0.980	T	0.141	T	0.618	4.265	22.3	5.77	2.726	9.363	19.963	0.173	0.0125987129375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.165	0.30926	T	0.033	0.20350	B	0.013	0.16460	B	0.000000	0.84330	D	0.068628	1	0.81001	D	2.015	0.55033	M	0.9	0.45248	T	-2.13	0.48354	N	0.792	0.78832	-0.9799	0.35025	T	0.141	0.46202	T	10	0.41556367	0.56517	T	0.012599	0.31316	T	0.173	0.43840	0.347	0.34274	0.110392049598	0.10638	0.35992055545302254	0.35906	0.486330154237	0.47495	0.796828091145	0.81480	T	0.115135	0.43348	T	0.00174214	0.51893	T	-0.235274	0.51259	T	0.947975754737854	0.62796	D	0.976402	0.91778	D	0.388695	0.59939	0.37161005	0.62387	0.388695	0.59939	0.37161005	0.62387	-6.006	0.46330	T	.	.	0.932	0.85159	P	.	.	3.692749	0.52622	23.3	0.99546312106398649	0.70836	0.98844	0.87601	D	AEFBI	0.878924	0.80451	D	0.275228442467471	0.54895	3.654259	0.447476730566644	0.64554	4.713331	0.999999999999978	0.74766	0.722319	0.85440	0	0.627178	0.54094	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	9.488000	0.96922	11.667000	0.94056	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.963	0.97259	928	0.17405	.	.	.	.	.	.	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	60.98	40	chr13	26676632	.	G	A	60.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.181e+00;DP=1228;ExcessHet=0.0000;FS=119.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.31;ReadPosRankSum=0.349;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,35:199:75:0|1:26676631_T_C:75,0,5435:26676631	20	0	1	0
chr13	32124627	32124627	G	A	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon6:c.G581A:p.S194N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.007	B	0.000	D	1.000	D	0.205	N	1.95	T	-1.083	T	0.034	T	0.1	1.697	11.63	5.16	2.574	5.241	16.083	0.037	0.00379369366176	.	.	1.679e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs754634733	1.732e-05	1.916e-05	6.905e-06	2.78e-05	0.0002	1.189e-05	1.005e-05	0.0001	9.488e-05	6.041e-05	2.237e-05	0	0	0	0.0002	9.128e-07	6.696e-05	0.0002	6.579e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.346	0.12469	T	0.421	0.14241	T	0.0	0.02946	B	0.007	0.12992	B	0.000093	0.51296	D	0.202328	0.884104	0.35811	D	0.2	0.09183	N	1.95	0.22474	T	-0.22	0.10480	N	0.236	0.31925	-1.0827	0.06833	T	0.034	0.14726	T	10	0.14150634	0.26886	T	0.003794	0.08837	T	0.037	0.09474	.	.	0.0675242888579	0.06100	0.16770788540174775	0.16690	0.402332215328	0.41189	0.635996103287	0.57996	T	0.003847	0.09137	T	-0.42715	0.01542	T	-0.614679	0.11608	T	0.248175442218781	0.22791	T	0.835916	0.57273	T	0.17885903	0.38927	0.1593355	0.37165	0.17885903	0.38927	0.1593355	0.37164	-4.348	0.28844	T	.	.	0.068	0.02765	B	.;.;.;.;.	.;.;.;.;.	3.028154	0.40554	21.2	0.96375897992871384	0.29600	0.98634	0.84950	D	AEFBI	0.692508	0.65215	D	-0.0833031139994207	0.38124	2.228149	0.141237586478661	0.46680	2.910059	0.99999997538492	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.16	5.16	0.70563	5.658000	0.67673	5.132000	0.47660	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1338:0.8662:0.0	16.083	0.80825	943	0.12886	Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal;Cell morphogenesis protein N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1159.98	34	chr13	32124627	.	G	A	1159.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=813;ExcessHet=0.0000;FS=6.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.714;SOR=0.306	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1174,0,1541	20	0	1	0
chr13	33111803	33111803	A	G	exonic	STARD13	.	nonsynonymous SNV	STARD13:NM_052851:exon10:c.T2228C:p.I743T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.375	M	2.14	T	-0.532	T	0.204	T	0.991	4.871	27.9	5.61	2.259	9.171	16.103	0.796	0.0761603534779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	2.14	0.20122	T	-4.66	0.80595	D	0.985	0.99776	-0.5324	0.67450	T	0.204	0.56197	T	10	0.94739515	0.94068	D	0.07616	0.72464	D	0.796	0.93306	0.728	0.86198	0.857675792657	0.85630	0.7755266573763596	0.77502	0.705284076393	0.61380	0.727703273296	0.71171	T	0.822902	0.95689	D	0.290828	0.82224	D	0.179978	0.81995	D	0.99875009059906	0.95068	D	0.995275	0.98387	D	0.8065001	0.84324	0.7567165	0.85623	0.8065001	0.84325	0.7567165	0.85624	-12.12	0.85887	D	.	.	0.927	0.84763	P	.;.;.	.;.;.	4.940163	0.81522	27.6	0.99872068391695623	0.94989	0.96601	0.69959	D	AEFDGBCIJ	0.906598	0.85956	D	0.980277153487378	0.95107	13.31447	0.917520422649904	0.96292	14.52191	0.999999999999996	0.74766	0.645754	0.44609	0	0.519925	0.08708	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	5.61	5.61	0.85347	9.210000	0.94212	11.072000	0.85602	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.103	0.81002	473	0.77910	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	88.73	43	chr13	33111803	.	A	G	88.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.614e+00;DP=1156;ExcessHet=0.3300;FS=92.526;InbreedingCoeff=-0.0780;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=0.072;SOR=8.967	GT:AD:DP:GQ:PL	0/1:53,16:69:34:34,0,945	18	0	3	0
chr13	38690244	38690244	A	G	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.A2900G:p.N967S,	Fraser syndrome, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.0	B	0.001	B	0.179	N	0.998	N	1.665	L	2.14	T	-0.901	T	0.034	T	0.041	-3.192	0.001	-6.33	-1.329	-0.116	13.694	0.060	0.00511556811657	0.0002	.	0.0001	0.0002	8.64e-05	0.0002	0	0.0001	0.0011	6.057e-05	0.00011	17	154602	rs138726274	5.951e-05	5.951e-05	5.445e-05	6.463e-05	0.0007	4.882e-05	4.561e-05	0.0002	0.0001	0.0003	0.0001	0	7.557e-05	0	0.0007	4.586e-05	0.0001	4.637e-05	9.857e-05	9.85e-05	0.0001	8.07e-05	0.0003	6.007e-05	4.88e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	4.41e-05	0	0	0.964	0.02079	T	0.251	0.23638	T	.	.	.	.	.	.	0.178708	0.17163	N	0.651645	0.998356	0.22206	N	.	.	.	2.14	0.19450	T	-1.67	0.39887	N	0.07	0.04307	-0.9014	0.47846	T	0.034	0.14464	T	10	0.02860275	0.00991	T	0.005116	0.12970	T	0.060	0.17295	.	.	0.181679512989	0.17746	0.20568586458121058	0.20485	0.0924982757339	0.10440	0.19087639451	0.00241	T	.	.	.	-0.586296	0.00176	T	-0.800515	0.01890	T	0.00707792537699658	0.00081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.	.	-1.996272	0.00102	0.002	0.14152175355980343	0.00302	0.06520	0.12531	N	AEFBI	0.062141	0.11928	N	-1.58267856743541	0.01353	0.0589713	-1.64822240394994	0.01385	0.06257554	0.999867341958303	0.44398	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.59	-6.33	0.01814	-0.118000	0.10665	-3.898000	0.02465	-1.307000	0.01238	0.002000	0.15269	0.000000	0.08366	0.186000	0.21481	0.7276:0.0843:0.1881:0.0	13.694	0.62046	938	0.14419	.	.	.	.	.	.	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	2337.98	37	chr13	38690244	.	A	G	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=1514;ExcessHet=0.0000;FS=4.162;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-2.380e-01;SOR=0.879	GT:AD:DP:GQ:PL	0/1:105,85:190:99:2352,0,2789	20	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	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	0/1:108,54:162:99:208,0,2012	6	0	15	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	0/1:87,51:138:99:.:.:434,0,1900	0	0	20	1
chr13	43107202	43107202	A	G	exonic	DNAJC15	.	nonsynonymous SNV	DNAJC15:NM_013238:exon6:c.A407G:p.K136R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.98	D	0.000	D	1.000	D	1.715	L	1.53	T	-0.933	T	0.155	T	0.639	3.884	19.74	5.25	2.330	5.692	13.814	0.221	0.0190848075925	.	.	1.07e-05	0	0	0	0	2.095e-05	0	0	6.5e-06	1	154602	rs760852761	6.923e-07	6.84e-07	0	1.392e-06	9.053e-07	0	0	.	.	0	0	0	0	0	0	9.053e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.048259	0.999998	0.58761	D	0.95	0.23787	L	1.53	0.30401	T	-2.84	0.59873	D	0.602	0.62018	-0.9326	0.43755	T	0.155	0.48619	T	10	0.65430313	0.69783	D	0.019085	0.41356	T	0.221	0.51721	0.588	0.71623	0.218845423259	0.21516	0.5521894939511144	0.55144	0.213200525594	0.23830	0.510524511337	0.40296	T	0.225391	0.59010	T	0.00799026	0.52751	T	-0.226299	0.52130	T	0.913818001747131	0.57022	D	0.893711	0.63166	D	0.6046346	0.72940	0.5370135	0.73245	0.6046346	0.72941	0.5370135	0.73246	-8.081	0.61621	D	.	.	0.243	0.47708	B	.	.	4.349258	0.66783	25.0	0.99877934657672174	0.95491	0.94884	0.62664	D	AEFDBI	0.881391	0.80872	D	0.594178650479115	0.72810	5.864752	0.56666087723304	0.72565	5.829789	0.999999340943683	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	4.887000	0.62848	9.251000	0.79490	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	1.0:0.0:0.0:0.0	13.814	0.62773	851	0.35303	DnaJ domain|DnaJ domain|DnaJ 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	929.98	33	chr13	43107202	.	A	G	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.144;DP=757;ExcessHet=0.0000;FS=3.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-2.400e-02;SOR=0.666	GT:AD:DP:GQ:PL	0/1:30,39:69:99:944,0,653	20	0	1	0
chr13	49630893	49630893	G	A	exonic	ARL11	.	stopgain	ARL11:NM_138450:exon2:c.G446A:p.W149X,	.	.	416	1056	49	1	0	51	0.0235784	.	.	702719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.810	27.2	5.32	2.490	3.559	17.994	.	.	0.0080	0.00579073	0.0099	0.0011	0.0073	0	0.0068	0.0133	0.0165	0.0100	0.0096894	1498	154602	rs34301344	0.0097	0.0097	0.0095	0.0098	0.0225	0.0095	0.0095	0.0193	0.0181	0.0017	0.0078	0.0214	0	0.0062	0.0225	0.0101	0.0097	0.0107	0.0080	0.0080	0.0080	0.0079	0.0112	0.0076	0.0074	0.0106	0.0103	0.0016	0.0329	0.0097	0.0187	0.0004	0.0063	0.0238	0.0112	0.0104	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275648	0.80940	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.128608	0.98504	39	0.99204731995395834	0.55381	0.95789	0.66160	D	AEFDBI	0.082690	0.16746	N	0.707159327269664	0.80103	7.220512	0.539516920279059	0.70672	5.53964	0.999999996113154	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.32	5.32	0.75377	3.180000	0.50595	11.047000	0.85249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:1.0:0.0	17.994	0.89101	414	0.81871	.	.	.	.	.	rs34301344	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	5609.68	38	chr13	49630893	.	G	A	5609.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.798;DP=1082;ExcessHet=0.3300;FS=2.490;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-8.600e-02;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,58:136:99:.:.:1454,0,2086	18	0	3	0
chr13	49921505	49921505	G	A	exonic	SPRYD7	.	stopgain	SPRYD7:NM_001127482:exon3:c.C349T:p.R117X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.456	35	4.49	2.515	4.031	13.585	.	.	.	.	8.26e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs759991926	8.218e-06	8.893e-06	1.09e-05	5.506e-06	8.104e-06	4.38e-06	3.46e-06	3.81e-06	2.76e-06	0	0	3.829e-05	0	0	0	8.104e-06	3.314e-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	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.497	0.53006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509833	0.94568	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.;.	High;.;.	9.208126	0.98617	40	0.9970946640890439	0.81213	0.94228	0.60504	D	AEFBI	0.120652	0.23493	N	0.841191023655861	0.88600	9.639905	0.713854648813887	0.83429	8.019666	0.127760973711853	0.17026	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.39	4.49	0.54177	4.121000	0.57654	6.185000	0.54687	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7143:0.2857	13.585	0.61393	683	0.59664	SPRY domain|B30.2/SPRY domain|SPRY domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1362.98	33	chr13	49921505	.	G	A	1362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e+00;DP=863;ExcessHet=0.0000;FS=1.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=-5.590e-01;SOR=0.536	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1377,0,1487	20	0	1	0
chr13	71489122	71489122	C	T	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_004392:exon3:c.G991A:p.A331T	.	.	439	1082	1	0	0	1	0.000461894	.	.	2763456	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.932	P	0.398	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.106	T	0.065	T	0.152	1.930	12.41	3.33	1.284	5.594	12.453	0.043	0.00410863754956	.	.	2.487e-05	0	0	0.0001	0	3.001e-05	0	0	1.94e-05	3	154602	rs751897642	2.259e-05	2.257e-05	1.498e-05	3.027e-05	0.0003	1.611e-05	1.417e-05	0.0002	0.0002	2.99e-05	0	0	0.0003	0	0.0002	9.897e-06	8.285e-05	2.321e-05	6.578e-06	1.313e-05	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.564	0.16328	T	0.1	0.51990	B	0.036	0.44426	B	0.000000	0.84330	D	0.052766	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.467	0.53796	-1.1061	0.03427	T	0.065	0.26948	T	10	0.12531522	0.23813	T	0.004109	0.09838	T	.	.	.	.	0.151262610727	0.14761	0.49348685154023375	0.49269	.	.	0.743359744549	0.73467	T	.	.	.	-0.338736	0.05476	T	-0.415479	0.31594	T	0.178785875439644	0.19158	T	0.882612	0.61998	D	0.29205644	0.52183	0.32405236	0.58332	0.29205644	0.52183	0.32405236	0.58332	-2.878	0.10719	T	.	.	0.066	0.09045	B	.;.;.;.	.;.;.;.	4.050508	0.60035	24.2	0.98760279824236064	0.45800	0.96569	0.69797	D	AEFDI	0.620946	0.60582	D	0.0140024875548822	0.42493	2.561235	0.12296654916118	0.45726	2.830695	0.0512993285811926	0.14868	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.1	3.33	0.37245	4.653000	0.61156	4.819000	0.45103	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.856:0.0:0.144	12.453	0.55022	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	0	0	0	0	0.02381	867.98	33	chr13	71489122	.	C	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.961;SOR=0.610	GT:AD:DP:GQ:PL	0/1:28,36:64:99:882,0,599	20	0	1	0
chr13	95071753	95071753	A	G	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301829:exon24:c.T2978C:p.V993A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.001	B	0.016	B	0.494	N	1.000	N	-0.04	N	-2.58	D	-0.740	T	0.391	T	0.18	-0.173	3.155	1.8	0.087	0.419	9.105	0.196	0.0304948526877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.06441	T	0.661	0.06490	T	0.0	0.07471	B	0.002	0.17743	B	0.494220	0.12023	N	0.791203	0.999999	0.08975	N	-0.83	0.01527	N	-2.58	0.89757	D	-0.73	0.20576	N	0.14	0.13911	-0.7402	0.58442	T	0.391	0.74495	T	10	0.07028088	0.10203	T	0.030495	0.52796	D	0.196	0.47777	0.501	0.59304	0.49676076625	0.49313	0.5509914001817722	0.55025	0.282886675705	0.30743	0.289586246014	0.08862	T	0.069936	0.33835	T	-0.0781308	0.40017	T	-0.350006	0.39203	T	0.029093190379116	0.01851	T	0.736326	0.35686	T	0.03681319	0.04600	0.036177814	0.03012	0.03681319	0.04600	0.036177814	0.03012	-3.48	0.16153	T	.	.	0.097	0.15654	B	.;.;.	.;.;.	0.824553	0.11960	8.519	0.60077504894785361	0.06376	0.11424	0.16625	N	AEFBI	0.090708	0.18379	N	-0.971505487283006	0.09216	0.4352658	-0.908537755669423	0.11893	0.6086481	0.078834758398217	0.15800	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	1.8	0.24069	0.419000	0.20967	-0.022000	0.12912	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.806000	0.37994	0.7914:0.0:0.2086:0.0	9.105	0.35855	914	0.21048	.;.;.	.	.	.	.	.	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	49.98	57	chr13	95071753	.	A	G	49.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.269e+00;DP=954;ExcessHet=0.0000;FS=83.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.85;ReadPosRankSum=1.96;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,8:59:64:0|1:95071752_C_T:64,0,1832:95071752	20	0	1	0
chr13	95071754	95071754	C	G	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301829:exon24:c.G2977C:p.V993L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.001	B	0.494	N	1.000	N	0.345	N	-2.64	D	-0.626	T	0.471	T	0.14	0.513	6.782	1.81	0.025	0.035	9.310	0.132	0.0342729198354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.11015	T	0.339	0.18071	T	0.0	0.02946	B	0.001	0.04355	B	0.494220	0.12023	N	0.791203	1	0.08975	N	0.435	0.12660	N	-2.64	0.90147	D	-0.15	0.09297	N	0.105	0.08925	-0.6258	0.63747	T	0.471	0.79626	T	10	0.07805991	0.12396	T	0.034273	0.55566	D	0.132	0.35948	0.485	0.56780	0.358134431457	0.35428	0.4198804795393688	0.41904	0.230426927568	0.25593	0.278424888849	0.07275	T	0.041417	0.25850	T	-0.115848	0.33804	T	-0.404184	0.32897	T	0.0274212304502726	0.01605	T	0.849315	0.53499	T	0.032567937	0.03308	0.043524764	0.05435	0.032567937	0.03307	0.043524764	0.05435	-4.601	0.32184	T	.	.	0.115	0.22969	B	.;.;.	.;.;.	0.389347	0.07609	4.271	0.89248120541506504	0.18635	0.10045	0.15658	N	AEFBI	0.104908	0.20977	N	-1.05022141143644	0.07583	0.3527565	-0.997032843454491	0.09851	0.4925799	0.0764562917017475	0.15728	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	1.81	0.24139	0.040000	0.13791	-0.710000	0.07754	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.800000	0.37734	0.0:0.5291:0.0:0.4709	9.310	0.37062	914	0.21048	.;.;.	.	.	.	.	.	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	0.03125	52.37	48	chr13	95071754	.	C	G	52.37	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-8.980e-01;DP=938;ExcessHet=0.0000;FS=212.131;InbreedingCoeff=-0.1065;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.48;SOR=7.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,8:59:64:0|1:95071752_C_T:64,0,1832:95071752	15	0	1	5
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	0/2:18,0,5:23:99:.:.:142,198,931,0,733,718	9	2	7	0
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	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	0.2727	319.73	161	chr13	102747739	.	C	G,T	319.73	.	AC=3,3;AF=0.136,0.136;AN=22;BaseQRankSum=-5.526e+00;DP=4353;ExcessHet=1.7912;FS=296.348;InbreedingCoeff=-0.3527;MLEAC=4,4;MLEAF=0.182,0.182;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.04;SOR=13.436	GT:AD:DP:GQ:PL	0/1:177,66,52:295:99:121,0,3405,223,3181,3670	5	0	3	10
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	658.94	68	chr13	110456941	.	C	CGTG	658.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=1144;ExcessHet=0.0000;FS=0.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.47;MQRankSum=4.18;QD=8.24;ReadPosRankSum=-2.934e+00;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,50:80:99:0|1:110456941_C_CGTG:673,0,570:110456941	20	0	1	0
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,50:80:99:0|1:110456941_C_CGTG:674,763,1427,0,664,569:110456941	0	0	8	12
chr13	110508084	110508084	G	A	exonic	COL4A2	.	nonsynonymous SNV	COL4A2:NM_001846:exon47:c.G4744A:p.E1582K,	Porencephaly 2, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1450839	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.329	B	0.201	B	0.152	N	1.000	D	1.915	M	-3.43	D	0.294	D	0.761	D	0.304	2.707	15.01	4.09	1.059	6.175	13.202	0.408	0.182804602492	7.7e-05	.	4.142e-05	0	0.0003	0	0	2.999e-05	0	0	3.23e-05	5	154602	rs376636910	2.326e-05	2.326e-05	2.314e-05	2.338e-05	0.0002	1.674e-05	1.477e-05	0.0001	7.816e-05	0	0.0002	3.826e-05	0.0002	0	0	8.993e-06	8.279e-05	2.319e-05	1.971e-05	1.97e-05	0	4.033e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.021	0.49117	D	0.134	0.34241	T	0.329	0.33227	B	0.201	0.36881	B	0.152037	0.17936	N	0.487586	0.999999	0.58761	D	2.415	0.69758	M	-3.43	0.94388	D	-2.98	0.62008	D	0.534	0.56231	0.294	0.87465	D	0.761	0.91855	D	10	0.308156	0.48314	T	0.182805	0.85644	D	0.408	0.72022	.	.	0.913695700637	0.91283	0.6472452023299599	0.64659	0.341437195331	0.36074	0.411849379539	0.26712	T	0.711385	0.91770	D	-0.0794666	0.39802	T	-0.0672112	0.65825	T	0.450282871723175	0.30807	T	0.880812	0.63821	D	0.29835114	0.52757	0.24901718	0.50464	0.29835114	0.52756	0.24901718	0.50463	-8.907	0.67096	D	0.4675160950417598	0.54858	0.175	0.38281	B	.;.	.;.	3.942255	0.57693	23.9	0.99733384362285726	0.82904	0.85504	0.44643	D	AEFDGBHCI	0.705487	0.66086	D	-0.349556437967856	0.27287	1.495976	-0.327676303247533	0.27209	1.50817	0.999999999931733	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.94	4.09	0.47038	6.294000	0.72722	9.617000	0.81098	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.418000	0.27184	0.0771:0.0:0.9229:0.0	13.202	0.59196	982	0.03397	Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;.	.	.	.	.	.	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	2511.98	33	chr13	110508084	.	G	A	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=939;ExcessHet=0.0000;FS=8.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=1.22;SOR=0.857	GT:AD:DP:GQ:PL	0/1:116,103:219:99:2526,0,2690	20	0	1	0
chr13	113171776	113171776	C	T	exonic	PROZ	.	nonsynonymous SNV	PROZ:NM_003891:exon8:c.C874T:p.L292F	.	.	418	1089	13	2	0	17	0.00774487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.858	N	2.365	M	-2.6	D	0.183	D	0.788	D	0.365	1.590	11.27	3.05	1.842	0.727	12.011	0.481	.	0.0006	0.0061901	0.0033	0.0005	0.0007	0	0	0.0008	0.0011	0.0204	0.0030077	465	154602	rs140236962	0.0020	0.0020	0.0014	0.0026	0.0195	0.0019	0.0019	0.0187	0.0184	0.0002	0.0006	0	5.04e-05	0	0.0021	0.0010	0.0022	0.0195	0.0014	0.0014	0.0012	0.0017	0.0215	0.0013	0.0012	0.0182	0.0169	0.0003	0	0.0004	0	0	9.407e-05	0.0034	0.0013	0.0005	0.0215	0.0	0.91255	D	0.183	0.29153	T	0.954	0.90584	P	0.667	0.92359	P	0.000002	0.62929	D	0.000000	0.858429	0.28392	N	2.655	0.77738	M	-2.6	0.89888	D	-3.82	0.71997	D	0.415	0.45520	0.183	0.85615	D	0.788	0.92818	D	10	0.008682966	0.00197	T	.	.	.	0.481	0.77142	.	.	0.997724057262	0.99770	0.841986440874215	0.84158	0.637825220788	0.57520	0.402601897717	0.25431	T	0.840025	0.96261	D	-0.179562	0.23799	T	-0.0151099	0.69351	D	0.0835200810111801	0.10432	T	0.749925	0.37818	T	0.91567814	0.92831	0.7465187	0.85017	0.91567814	0.92832	0.7465187	0.85018	-9.217	0.69082	D	.	.	0.711	0.73392	P	.;.	.;.	2.532041	0.32736	19.13	0.99686700141497364	0.79641	0.29422	0.23817	N	AEFDBI	0.253350	0.37286	N	0.0962042053286633	0.46284	2.871274	-0.0791109022097972	0.36256	2.107579	0.999984167162257	0.51787	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.735409	0.98432	0	.	.	4.16	3.05	0.34272	0.905000	0.28127	2.905000	0.35473	0.454000	0.21428	0.792000	0.29619	0.995000	0.32472	0.050000	0.15192	0.0:0.8364:0.0:0.1636	12.011	0.52582	912	0.21483	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1323.98	33	chr13	113171776	.	C	T	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=-4.600e-02;SOR=0.700	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1338,0,1849	20	0	1	0
chr13	113319653	113319691	CACGGTAGGGCTGGGGCCTCACCTGGGAGAGGGGGACGG	-	exonic	LAMP1	.	frameshift deletion	LAMP1:NM_005561:exon5:c.747_750del:p.N249Kfs*3,	.	.	420	1086	14	2	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	0.0032	0.0005	0.0009	0	0	0.0007	0.0034	0.0190	0.0003074	8	26028	rs563136954	0.0016	0.0017	0.0011	0.0022	0.0180	0.0016	0.0016	0.0173	0.0170	0.0001	0.0004	3.828e-05	5.038e-05	0	0.0021	0.0006	0.0020	0.0180	0.0013	0.0013	0.0010	0.0016	0.0224	0.0011	0.0011	0.0190	0.0177	0.0002	0	0.0005	0	0	0	0.0034	0.0010	0.0005	0.0224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1656.94	33	chr13	113319652	.	ACACGGTAGGGCTGGGGCCTCACCTGGGAGAGGGGGACGG	A	1656.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=822;ExcessHet=0.0000;FS=3.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.618;SOR=0.422	GT:AD:DP:GQ:PL	0/1:64,47:111:99:1671,0,2456	20	0	1	0
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	0/1:68,17,0:85:99:.:.:304,0,1744,506,1795,2301	4	5	6	3
chr14	19713480	19713480	A	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T437A:p.L146H,	.	.	549	969	4	0	0	4	0.00205973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0112	0.0016	0	0.0037	0.0021	0	0.0007	3.84e-05	1	26028	rs1830970	0.0005	0.0017	0.0006	0.0005	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0.0004	3.846e-05	0.0003	0.0027	0.0015	0.0004	0.0006	0.0002	0.0017	0.0039	0.0017	0.0017	0.0040	0.0015	0.0015	0.0035	0.0033	0.0040	0	0.0006	0	0.0002	0.0040	0.0071	0.0006	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.355	0.00654	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045835674	0.00095	T	.	.	.	.	.	.	.	0.392239652056	0.38839	0.05243073493284266	0.05185	.	.	0.234286487103	0.02300	T	0.001817	0.01233	T	-0.0999725	0.36429	T	-0.38138	0.35561	T	.	.	.	0.449655	0.12671	T	0.052	0.09499	0.09457043	0.22392	0.052	0.09499	0.09457043	0.22392	-0.056	0.00369	T	.	.	0.055	0.01577	B	.;.	.;.	0.281209	0.06578	3.071	0.40910745183559194	0.02917	0.00123	0.00769	N	AEFI	.	.	.	.	.	.	.	.	.	2.2919892149888E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.110645	0.23641	1.06	1.06	0.19341	-0.639000	0.05543	-0.460000	0.09044	-0.385000	0.05372	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2794:0.0:0.0:0.7205	4.640	0.11928	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	0.025	166.33	33	chr14	19713480	.	A	T	166.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.932e+00;DP=974;ExcessHet=0.0000;FS=15.181;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=38.16;MQRankSum=-2.995e+00;QD=0.79;ReadPosRankSum=-2.114e+00;SOR=2.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,20:211:99:0|1:19713480_A_T:180,0,7633:19713480	19	0	1	1
chr14	19713490	19713490	G	T	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.C427A:p.R143S,	.	.	562	959	1	0	0	1	0.000521105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0004	0	0.0009	3.84e-05	1	26028	rs773027834	1.273e-05	0.0002	1.412e-05	1.133e-05	0.0002	7.95e-06	6.56e-06	1.797e-05	8.98e-06	0	6.777e-05	0	0	0	0.0002	1.215e-05	0	1.169e-05	0.0001	0.0006	0.0002	0.0001	0.0007	9.441e-05	7.886e-05	0.0004	0.0003	0.0001	0	0.0007	0	0.0002	0.0002	0	4.73e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	0.15745	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14691746	0.27847	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.09301296821069617	0.09233	.	.	0.186354130507	0.00167	T	0.023476	0.17914	T	-0.0858611	0.38755	T	-0.180814	0.56447	T	.	.	.	0.506949	0.16072	T	0.13998564	0.32316	0.081449375	0.18509	0.13998564	0.32316	0.081449375	0.18509	-5.492	0.41793	T	.	.	0.192	0.44397	B	.;.	.;.	1.906979	0.24218	16.31	0.49845442688862368	0.04281	0.01665	0.05332	N	AEFI	.	.	.	.	.	.	.	.	.	1.89527012418565E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.110645	0.23641	1.06	1.06	0.19341	-0.593000	0.05835	-4.409000	0.02171	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.617:0.383	4.450	0.11036	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	55.33	33	chr14	19713490	.	G	T	55.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.78;DP=953;ExcessHet=0.0000;FS=9.083;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=37.24;MQRankSum=-3.241e+00;QD=0.29;ReadPosRankSum=-9.920e-01;SOR=2.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,15:194:69:0|1:19713480_A_T:69,0,7340:19713480	19	0	1	1
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N,	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.001	B	0.423	N	1.000	N	1.1	L	0.94	T	-1.051	T	0.073	T	0.014	1.757	11.83	-1.21	-0.365	-0.497	5.105	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	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	0.1111	147.34	118	chr14	20747837	.	G	A	147.34	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.194e+00;DP=1717;ExcessHet=0.6776;FS=228.147;InbreedingCoeff=-0.1516;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=-1.130e-01;SOR=10.330	GT:AD:DP:GQ:PL	0/1:77,25:115:24:24,0,1620	14	0	4	3
chr14	23042370	23042370	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G145A:p.G49S,	.	.	422	1087	12	1	0	14	0.00639854	.	.	702814	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.93	H	-0.83	T	0.364	D	0.482	T	0.917	4.932	28.6	5.4	2.536	7.124	17.980	0.729	.	0.0044	0.00838658	0.0075	0.0010	0.0034	0.0227	0.0116	0.0080	0.0100	0.0027	0.0073608	1138	154602	rs34457782	0.0071	0.0071	0.0071	0.0071	0.0256	0.0070	0.0069	0.0243	0.0238	0.0011	0.0034	0.0037	0.0256	0.0135	0.0062	0.0069	0.0070	0.0022	0.0060	0.0060	0.0061	0.0058	0.0274	0.0057	0.0055	0.0238	0.0224	0.0014	0.0022	0.0045	0.0043	0.0274	0.0114	0.0136	0.0069	0.0090	0.0021	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	4.045	0.97016	H	-0.83	0.74159	T	-5.54	0.86149	D	0.919	0.92200	0.364	0.88549	D	0.482	0.80230	T	10	0.015518874	0.00326	T	.	.	.	0.729	0.90501	.	.	0.866298555364	0.86500	0.8804463649467902	0.88012	0.606206283353	0.55474	0.699628949165	0.67090	T	0.337988	0.70730	T	0.0627332	0.59955	T	0.334921	0.89713	D	0.0990738712007421	0.12255	T	0.999355	0.99761	D	0.8976179	0.91171	0.8813787	0.93659	0.8976179	0.91172	0.8813787	0.93659	-10.849	0.78823	D	.	.	0.567	0.67488	P	.	.	4.668839	0.74591	26.2	0.99871181506189666	0.94902	0.98998	0.89743	D	AEFDBI	0.877648	0.80243	D	0.948043336876363	0.93906	12.36122	0.840108728278102	0.92425	11.41898	0.999999999999999	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	8.961000	0.92959	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.243000	0.23080	0.0:0.0:1.0:0.0	17.980	0.89060	798	0.45050	.	.	.	.	.	.	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	2191.98	34	chr14	23042370	.	G	A	2191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=907;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-2.354e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/1:79,85:164:99:2206,0,1736	20	0	1	0
chr14	23104899	23104901	GCA	-	exonic	LMLN2	.	nonframeshift deletion	LMLN2:NM_001354640:exon1:c.20_22del:p.L11del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	713.64	28	chr14	23104886	.	GGCAGCAGCAGCAGCA	GGCAGCAGCAGCA,G	713.64	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=4.000e-03;DP=459;ExcessHet=0.3892;FS=0.890;InbreedingCoeff=0.1411;MLEAC=1,2;MLEAF=0.028,0.056;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.261;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,11,0:25:99:.:.:408,0,535,450,568,1018	15	0	1	3
chr14	24053718	24053718	G	A	exonic	CARMIL3	.	nonsynonymous SNV	CARMIL3:NM_138360:exon2:c.G50A:p.R17Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.997	D	0.953	D	0.000	D	1.000	D	1.39	L	2.28	T	-1.163	T	0.082	T	0.531	3.472	17.77	5.22	2.598	6.149	14.635	0.160	0.0179813725352	7.7e-05	.	4.293e-05	0	0	0.0001	0	6.149e-05	0	0	7.12e-05	11	154602	rs142457655	4.112e-05	4.173e-05	4.5e-05	3.721e-05	0.0002	3.251e-05	2.925e-05	3.722e-05	3.376e-05	0	0	0	2.52e-05	0	0.0002	4.773e-05	6.638e-05	1.166e-05	4.599e-05	4.597e-05	3.854e-05	5.38e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0.0055	0	0	0	0	0	2.94e-05	0	0	0.025	0.47320	D	0.189	0.28575	T	0.997	0.70673	D	0.953	0.69275	D	0.000031	0.55875	D	0.000000	0.999801	0.81001	D	.	.	.	2.28	0.17271	T	-1.15	0.29525	N	0.504	0.53620	-1.1626	0.00696	T	0.082	0.32178	T	10	0.15463892	0.29165	T	0.017981	0.39885	T	0.160	0.41473	.	.	0.530705155676	0.52718	0.5804027355554036	0.57969	0.928116927593	0.71713	0.655439317226	0.60758	T	0.031347	0.22002	T	-0.177653	0.24087	T	-0.362511	0.37763	T	0.835323095321655	0.48950	D	.	.	.	0.19414236	0.41152	0.15108217	0.35605	0.19414236	0.41152	0.15108217	0.35604	-4.069	0.24831	T	.	.	0.105	0.19194	B	.	.	4.514927	0.70739	25.6	0.99879886145130226	0.95653	0.91967	0.54652	D	AEFDBCI	0.651114	0.62498	D	0.61582403102475	0.74174	6.088205	0.622993256421309	0.76612	6.523466	0.999999999956071	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	5.22	0.72285	6.206000	0.72085	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.635	0.68284	799	0.44747	.	.	.	.	.	.	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	1894.98	39	chr14	24053718	.	G	A	1894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=-4.910e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1909,0,1680	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	0/1:133,39:172:56:.:.:56,0,3256	4	0	11	6
chr14	30616319	30616319	G	A	exonic	G2E3	.	nonsynonymous SNV	G2E3:NM_001308097:exon14:c.G1768A:p.A590T	.	.	438	1069	13	2	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.013	B	0.042	B	0.000	N	0.997	D	1.83	L	0.4	T	-1.007	T	0.061	T	0.153	1.684	11.59	3.95	0.788	4.291	11.013	0.147	.	0.0078	0.00259585	0.0058	0.0025	0.0031	0	0.0119	0.0080	0.0056	0.0012	0.0060025	928	154602	rs45475495	0.0091	0.0092	0.0094	0.0089	0.0312	0.0090	0.0089	0.0274	0.0260	0.0018	0.0035	0.0080	2.526e-05	0.0096	0.0312	0.0104	0.0098	0.0010	0.0062	0.0062	0.0062	0.0062	0.0086	0.0059	0.0057	0.0080	0.0078	0.0022	0.0044	0.0040	0.0092	0	0.0134	0.0136	0.0086	0.0076	0.0015	0.099	0.31682	T	0.088	0.42261	T	0.013	0.16609	B	0.042	0.24114	B	0.000006	0.62929	N	0.142736	0.996539	0.43261	D	1.9	0.50570	L	0.4	0.57261	T	-1.04	0.29933	N	0.139	0.13769	-1.0069	0.27881	T	0.061	0.25346	T	10	0.010348141	0.00231	T	.	.	.	0.147	0.38986	.	.	0.257342827899	0.25358	0.58322532940521	0.58251	0.338127854564	0.35788	0.377340078354	0.21879	T	0.044106	0.26711	T	-0.454748	0.01059	T	-0.415602	0.31581	T	0.00629863204510947	0.00070	T	0.786621	0.42528	T	0.07010593	0.15415	0.13295096	0.31891	0.07010593	0.15415	0.13295096	0.31890	-6.67	0.51584	T	.	.	0.095	0.16626	B	.;.;.	.;.;.	2.530949	0.32720	19.13	0.9433137757105039	0.24664	0.95375	0.64475	D	AEFDGBI	0.524573	0.54770	D	-0.366460092448532	0.26672	1.457438	-0.266051408066251	0.29223	1.635626	0.99999995010899	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	3.95	0.44952	4.390000	0.59409	5.180000	0.47861	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0667:0.0:0.8034:0.1299	11.013	0.46886	959	0.08690	HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT 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	1707.98	33	chr14	30616319	.	G	A	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.578e+00;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.422e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:71,75:146:99:1722,0,1712	20	0	1	0
chr14	31349791	31349791	G	T	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon18:c.C2706A:p.D902E,	.	.	433	1088	1	0	0	1	0.000459348	0.0111	0.236	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.574	P	0.422	B	0.000	D	1.000	D	1.76	L	3.47	T	-0.575	T	0.303	T	0.329	3.342	17.25	4.57	1.281	2.980	15.483	0.056	0.00992460708505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023711254	4.951e-05	5.336e-05	5.065e-05	4.835e-05	0.0005	4.013e-05	3.688e-05	0.0001	7.56e-05	0	0	0	0	0	0.0005	5.696e-05	8.314e-05	1.166e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.551e-05	2.18e-06	8.2e-07	.	.	0	0	6.551e-05	0	0	0	0	1.47e-05	0	0	0.046	0.40573	D	0.065	0.44702	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	3.47	0.05188	T	-3.14	0.64019	D	0.309	0.34874	-0.5749	0.65819	T	0.303	0.67409	T	10	0.2995761	0.47509	T	0.009925	0.25833	T	0.083	0.24192	.	.	0.0762999501168	0.06990	0.2449868821257013	0.24412	.	.	0.704001784325	0.67723	T	0.165673	0.51161	T	-0.1487	0.28517	T	-0.451373	0.27547	T	0.585424363613129	0.35828	D	0.772323	0.40326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45617	B	.	.	2.721691	0.35600	19.94	0.99265295085214433	0.57356	0.94578	0.61622	D	AEFBI	0.599802	0.59268	D	0.552817530245668	0.70255	5.474603	0.52312351285565	0.69548	5.376295	0.999980510890363	0.51787	0.732398	0.92422	0	0.588066	0.40923	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.48	4.57	0.55860	3.066000	0.49695	3.826000	0.39973	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8604:0.1396	15.483	0.75275	779	0.47767	.	.	.	.	.	.	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	858.98	33	chr14	31349791	.	G	T	858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.332e+00;DP=733;ExcessHet=0.0000;FS=8.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-7.420e-01;SOR=0.075	GT:AD:DP:GQ:PL	0/1:10,34:44:99:873,0,254	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	0/1:55,17:72:14:14,0,1001	0	0	21	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,26:113:99:0|1:64158707_T_C:199,0,2626:64158707	6	0	14	1
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.982	12.59	4.86	1.535	3.990	14.318	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,26:113:99:0|1:64158707_T_C:199,458,3156,0,2697,2626:64158707	16	0	4	0
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.325	B	0.108	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.072	T	0.088	T	0.327	1.862	12.18	4.86	1.535	3.990	14.318	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.119	1661.7	40	chr14	64158708	.	G	A,C	1661.7	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.900e+00;DP=1564;ExcessHet=1.1607;FS=200.874;InbreedingCoeff=-0.1364;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=2.84;ReadPosRankSum=1.79;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:87,0,26:113:99:0|1:64158707_T_C:199,458,3156,0,2697,2626:64158707	16	0	4	0
chr14	64220540	64220540	A	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon4:c.A488T:p.Q163L	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	0	1510	12	0	0	12	0.00395778	.	.	265907	SYNE2-related_disorder|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	.|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.313	B	0.292	B	0.819	N	1.000	D	1.95	M	0.55	T	-0.893	T	0.176	T	0.29	0.461	6.504	2.37	0.147	0.924	4.714	0.075	0.0522778576277	0.0020	0.00139776	0.0022	0.0006	0.0030	0	0.0005	0.0030	0.0022	0.0013	0.0022315	345	154602	rs149978500	0.0031	0.0031	0.0030	0.0031	0.0140	0.0030	0.0030	0.0116	0.0107	0.0005	0.0026	0.0056	0	0.0004	0.0140	0.0034	0.0035	0.0010	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0022	0.0061	0	0.0003	0.0102	0.0030	0.0014	0.0008	0.043	0.42199	D	0.043	0.50226	D	0.313	0.32852	B	0.216	0.40739	B	0.819387	0.09190	N	0.902853	0.999983	0.54805	D	2.5	0.72771	M	0.55	0.54728	T	-5.81	0.90023	D	0.378	0.47765	-0.8931	0.48659	T	0.176	0.51990	T	10	0.00549531	0.00121	T	0.052278	0.65005	D	0.075	0.21907	.	.	0.522717468363	0.51916	0.45877102385961166	0.45795	0.137024195531	0.15452	0.300396084785	0.10460	T	0.089375	0.64994	T	-0.422152	0.01658	T	-0.380325	0.35684	T	0.0586289400915562	0.06951	T	0.768523	0.40460	T	0.19553134	0.41346	0.23880059	0.49212	0.19553134	0.41345	0.23880059	0.49211	-6.461	0.50548	T	.	.	0.117	0.32054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.856687	0.12288	8.831	0.6130389617898947	0.06675	0.26272	0.22945	N	AEFDGBHCI	0.118171	0.23119	N	-0.571187478070026	0.19825	1.040569	-0.609017110530634	0.19261	1.032633	0.999996949742486	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	2.37	0.28337	0.720000	0.25566	1.050000	0.23629	0.756000	0.94297	0.059000	0.21734	0.019000	0.20708	0.023000	0.12082	0.6331:0.0:0.1289:0.2379	4.714	0.12267	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1373.98	33	chr14	64220540	.	A	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=840;ExcessHet=0.0000;FS=3.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-2.680e-01;SOR=1.034	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1388,0,1659	20	0	1	0
chr14	69572725	69572725	C	T	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G898A:p.G300S,	.	.	489	1019	14	0	0	14	0.00682261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0081869	0.1667	0.25	.	.	.	0	.	.	0.0009444	146	154602	rs112597196	0.0057	0.0044	0.0057	0.0058	0.0191	0.0056	0.0056	0.0176	0.0170	0.0191	0.0057	0.0038	3.772e-05	0.0128	0.0165	0.0054	0.0066	0.0031	0.0098	0.0099	0.0099	0.0097	0.0175	0.0094	0.0092	0.0165	0.0160	0.0175	0.0011	0.0082	0.0055	0	0.0127	0.0170	0.0066	0.0104	0.0025	.	.	.	0.379	0.16037	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.095	0.27400	L	1.85	0.24472	T	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.0028022528	0.00044	T	.	.	.	.	.	.	.	.	.	0.08548746969442873	0.08482	.	.	0.782288968563	0.79273	T	0.015139	0.12759	T	-0.585505	0.00178	T	-0.598877	0.12906	T	.	.	.	0.582642	0.21138	T	0.090948656	0.21298	0.15418081	0.36196	0.090948656	0.21298	0.15418081	0.36196	-4.213	0.26939	T	.	.	0.219	0.44948	B	.	.	3.430428	0.47670	22.5	0.97456485833148221	0.34058	0.91475	0.53609	D	AEFDGBCI	0.349290	0.44313	N	.	.	.	.	.	.	0.999552068343067	0.40362	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.554799	0.18163	0	.	.	3.75	0.84	0.18047	5.149000	0.64707	2.542000	0.33220	0.515000	0.23462	1.000000	0.71638	0.990000	0.31317	0.374000	0.26200	0.0:0.7333:0.0:0.2667	8.369	0.31567	409	0.82198	.	.	.	.	.	.	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	0.02381	1840.98	33	chr14	69572725	.	C	T	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.859;SOR=0.741	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1855,0,1448	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	1/1:0,6,0:6:18:270,18,0,270,18,270	0	19	0	0
chr14	74551138	74551138	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon7:c.C1612T:p.R538W,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1515	6	1	0	8	0.00263331	.	.	872607	not_provided|Glaucoma_3,_primary_congenital,_D|Weill-Marchesani_syndrome	MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.609	P	0.143	N	0.985	N	1.7	L	1.63	T	-1.053	T	0.070	T	0.432	3.213	16.76	3.81	1.179	0.175	10.650	0.091	0.0312128160478	0.0002	0.000798722	0.0003	0.0001	0.0010	0	0	0.0002	0.0023	0.0002	0.0002781	43	154602	rs147534770	0.0002	0.0002	0.0002	0.0002	0.0042	0.0002	0.0002	0.0029	0.0024	0.0002	0.0006	3.826e-05	2.519e-05	0	0.0042	0.0002	0.0005	0.0001	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	9.693e-05	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0.0004	0.003	0.68238	D	0.007	0.69154	D	0.998	0.73220	D	0.609	0.51053	P	0.142573	0.18239	N	0.401678	0.98547	0.24708	N	2.28	0.64929	M	1.63	0.28002	T	-2.24	0.50175	N	0.312	0.35194	-1.0530	0.13574	T	0.070	0.28642	T	10	0.013666779	0.00289	T	0.031213	0.53353	D	0.091	0.26358	.	.	0.585352569408	0.58208	0.46336771253725717	0.46255	0.446302142319	0.44507	0.304472386837	0.11072	T	0.32047	0.69165	T	-0.379279	0.03149	T	-0.424004	0.30618	T	0.0791342745919371	0.09875	T	0.89971	0.66592	D	0.07708175	0.17472	0.09554242	0.22664	0.07708175	0.17472	0.09554242	0.22664	-6.096	0.47076	T	.	.	0.087	0.12844	B	.;.	.;.	4.799848	0.77985	26.8	0.99912338966181358	0.98167	0.34373	0.25052	N	AEFDBI	0.367151	0.45471	N	-0.039552492738379	0.40071	2.373464	-0.144513172042635	0.33618	1.925027	0.999837511534448	0.43792	0.706548	0.73137	0	0.59043	0.45803	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	4.72	3.81	0.43020	0.297000	0.18856	8.569000	0.77598	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.562000	0.30459	0.0:0.194:0.806:0.0	10.650	0.44838	257	0.89904	.;.	.	.	.	.	.	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	2681.11	33	chr14	74551138	.	G	A	2681.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.35;DP=881;ExcessHet=0.1072;FS=5.886;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=1.65;SOR=0.993	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1331,0,1187	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	1|1:0,36,0:36:99:1|1:77027445_C_T:1597,108,0,1597,108,1598:77027445	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	1|1:0,36,0:36:99:1|1:77027445_C_T:1597,108,0,1597,108,1598:77027445	6	6	8	0
chr14	77407535	77407535	C	T	exonic	NOXRED1	.	nonsynonymous SNV	NOXRED1:NM_001113475:exon3:c.G460A:p.V154I,	.	.	435	1048	39	0	0	39	0.018267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.005	B	0.001	B	0.633	N	1.000	N	0.945	L	0.99	T	-1.055	T	0.034	T	0.126	1.001	9.090	-11.5	-2.365	-1.600	0.813	0.038	.	0.0083	0.00419329	0.0066	0.0019	0.0041	0	0.0026	0.0097	0.0055	0.0043	0.0069663	1077	154602	rs141189280	0.0087	0.0088	0.0087	0.0088	0.0333	0.0086	0.0086	0.0294	0.0280	0.0016	0.0061	0.0110	0.0001	0.0020	0.0333	0.0098	0.0086	0.0053	0.0067	0.0067	0.0072	0.0061	0.0103	0.0063	0.0062	0.0096	0.0094	0.0018	0.0132	0.0076	0.0121	0.0002	0.0018	0.0476	0.0103	0.0099	0.0041	0.602	0.08787	T	0.248	0.23845	T	0.001	0.07471	B	0.001	0.04355	B	0.633464	0.05826	N	1.202330	1	0.08975	N	0.075	0.08292	N	0.99	0.41750	T	0.01	0.07736	N	0.111	0.09772	-1.0550	0.13040	T	0.034	0.14639	T	10	0.0045294464	0.00094	T	.	.	.	0.038	0.09825	.	.	0.21737058555	0.21362	0.2516836260169324	0.25082	0.118053165635	0.13290	0.226650893688	0.01729	T	0.020134	0.15906	T	-0.672006	0.00053	T	-0.727679	0.04433	T	0.00575182871688739	0.00063	T	0.424358	0.11346	T	0.030284833	0.02666	0.027110701	0.00840	0.030284833	0.02666	0.027110701	0.00840	-3.256	0.13176	T	.	.	0.081	0.08465	B	.;.	.;.	-1.197009	0.00533	0.012	0.77288193910196079	0.11814	0.03348	0.08433	N	AEFBHCI	0.028639	0.02560	N	-1.78900436564519	0.00572	0.02466229	-1.91754234181815	0.00452	0.01999623	0.999999999943413	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.77	-11.5	0.00057	-1.268000	0.02944	-3.258000	0.02929	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.26:0.2926:0.1298:0.3176	0.813	0.01027	923	0.18507	Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	6248.68	141	chr14	77407535	.	C	T	6248.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.15;DP=1112;ExcessHet=0.3300;FS=0.527;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.411;SOR=0.748	GT:AD:DP:GQ:PL	0/1:68,89:157:99:2307,0,1593	18	0	3	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	0/1:121,45:187:8:8,0,1770	5	0	16	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:12,8:20:86:86,0,190	9	0	10	2
chr14	90301265	90301265	C	T	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon7:c.G1519A:p.V507M,	.	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.997	D	0.000	D	1.000	D	1.905	M	1.31	T	-0.789	T	0.160	T	0.683	3.285	17.03	4.91	1.445	4.631	17.052	0.287	.	0.0051	0.00479233	0.0047	0.0011	0.0029	0	0.0012	0.0062	0.0077	0.0063	0.004683	724	154602	rs79341977	0.0063	0.0063	0.0062	0.0064	0.0073	0.0062	0.0061	0.0072	0.0071	0.0012	0.0029	3.828e-05	7.557e-05	0.0006	0.0054	0.0073	0.0054	0.0057	0.0041	0.0041	0.0045	0.0038	0.0072	0.0039	0.0038	0.0067	0.0065	0.0015	0	0.0027	0	0	0.0003	0	0.0072	0.0014	0.0054	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999999	0.58761	D	2.435	0.70606	M	1.31	0.35405	T	-0.86	0.36385	N	0.676	0.68342	-0.7888	0.55800	T	0.160	0.49463	T	10	0.008894891	0.00201	T	.	.	.	0.287	0.60574	.	.	0.647120189699	0.64419	0.5391645190508904	0.53841	0.396982738473	0.40801	0.526302278042	0.42514	T	0.01487	0.12581	T	-0.28588	0.10053	T	-0.178296	0.56681	T	0.0269564637618081	0.01537	T	0.956304	0.86183	D	0.17649929	0.38565	0.16566095	0.38311	0.17649929	0.38565	0.16566095	0.38311	-8.343	0.63384	D	.	.	0.259	0.53868	B	.;.	.;.	3.938548	0.57613	23.9	0.99892803870728586	0.96666	0.97628	0.76007	D	AEFDBCI	0.536387	0.55462	D	0.33904798678388	0.58165	3.987117	0.288415224318062	0.54861	3.650076	0.999999938239116	0.74766	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.662433	0.64102	0	.	.	5.8	4.91	0.63897	4.727000	0.61687	4.802000	0.44976	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.873:0.127:0.0	17.052	0.86394	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2175.98	47	chr14	90301265	.	C	T	2175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.820e-01;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.44;ReadPosRankSum=-2.070e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,57:118:99:0|1:90301263_C_T:2190,0,2351:90301263	20	0	1	0
chr14	91937102	91937102	A	G	exonic	FBLN5	.	nonsynonymous SNV	FBLN5:NM_001384159:exon4:c.T275C:p.V92A	Cutis laxa, autosomal dominant 2;Cutis laxa, autosomal recessive, type IA, Autosomal recessive;Macular degeneration, age-related, 3, Autosomal dominant;Neuropathy, hereditary, with or without age-related macular degeneration, Autosomal dominant	.	0	1513	8	1	0	10	0.00329381	.	.	337801	not_specified|not_provided|Cutis_Laxa,_Dominant/Recessive|Inborn_genetic_diseases|Macular_degeneration	MedGen:CN169374|MedGen:C3661900|MedGen:CN239277|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.783	P	0.363	B	0.000	D	0.998	D	1.7	L	-1.53	D	-0.087	T	0.481	T	0.547	3.581	18.24	5.58	2.134	4.910	15.750	0.356	0.0647595851347	.	0.000199681	8.238e-05	0	0.0002	0	0	0.0001	0	6.057e-05	7.12e-05	11	154602	rs145108467	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	9.966e-05	0.0026	0.0022	0	0.0001	0	0	0	0.0038	9.442e-05	0.0004	0.0002	7.885e-05	7.874e-05	6.43e-05	9.406e-05	0.0002	4.497e-05	3.512e-05	7.91e-05	5.995e-05	0	0	6.547e-05	0	0	0	0	0.0001	0	0.0002	0.023	0.78490	D	0.005	0.72224	D	0.783	0.44368	P	0.363	0.43280	B	0.000100	0.51296	D	0.132797	0.996268	0.44152	D	1.7	0.43825	L	-1.56	0.82076	D	-1.67	0.50012	N	0.527	0.58287	-0.0870	0.80395	T	0.481	0.80175	T	10	0.24574801	0.41827	T	0.06476	0.69375	D	0.356	0.67691	.	.	0.621296950098	0.61822	0.6547844994227595	0.65414	0.62569123341	0.56737	0.647772073746	0.59669	T	0.076342	0.60067	T	-0.0969688	0.36927	T	-0.0849166	0.64542	T	0.0566954367991829	0.06637	T	0.741926	0.52631	T	0.11917039	0.28064	0.22384578	0.47277	0.18191671	0.39385	0.26314378	0.52116	-5.135	0.38274	T	.	.	0.286	0.53914	B	.;.;.;.	.;.;.;.	3.896998	0.56739	23.8	0.99625611547499571	0.75716	0.93213	0.57620	D	AEFGBI	0.707660	0.66232	D	0.149946732911061	0.48810	3.088686	0.275823702376681	0.54132	3.579099	0.999989928121182	0.51787	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	5.152000	0.64727	9.192000	0.79135	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	1.0:0.0:0.0:0.0	15.750	0.77743	477	0.77662	EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;EGF-like domain|EGF-like calcium-binding domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2557.11	33	chr14	91937102	.	A	G	2557.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.03;DP=921;ExcessHet=0.1072;FS=2.717;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=0.686;SOR=0.544	GT:AD:DP:GQ:PL	0/1:92,53:145:99:1230,0,2209	19	0	2	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	0/2:13,0,35,0,0,0,0:48:99:.:.:1275,1319,1866,0,547,442,1319,1866,547,1866,1319,1866,547,1866,1866,1319,1866,547,1866,1866,1866,1319,1866,547,1866,1866,1866,1866	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	0/1:74,48:122:99:.:.:653,0,1227	0	0	21	0
chr14	100329532	100329532	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon6:c.C376T:p.R126W	.	.	424	1094	4	0	0	4	0.00182482	.	.	2389834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.893	P	0.001	N	1.000	N	2.965	M	-1.44	T	-0.103	T	0.574	D	0.482	2.708	15.02	-8.0	-1.096	0.855	11.156	0.394	0.217340558887	0.0005	0.000199681	0.0004	0	0.0002	0	0.0002	0.0006	0	0.0007	0.0004204	65	154602	rs145556108	0.0005	0.0005	0.0005	0.0005	0.0043	0.0005	0.0005	0.0030	0.0026	0.0002	0.0003	0	0	5.68e-05	0.0043	0.0006	0.0006	0.0005	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	4.812e-05	0	0.0003	0	0	0	0.0068	0.0006	0.0005	0.0006	0.019	0.51248	D	0.018	0.62352	D	0.988	0.62325	D	0.893	0.63340	P	0.001467	0.38917	N	0.290655	0.999999	0.08975	N	3.015	0.86134	M	-1.44	0.80815	T	-4.29	0.76414	D	0.313	0.35620	-0.1032	0.80025	T	0.574	0.84621	D	10	0.15278307	0.28853	T	0.217341	0.87604	D	0.394	0.70924	.	.	0.572382287006	0.56905	0.7280094550820942	0.72744	0.794022330084	0.65958	0.375985443592	0.21687	T	0.379694	0.74239	T	-0.1763	0.24288	T	-0.111524	0.62489	T	0.558389067649841	0.34794	D	0.950805	0.83415	D	0.14690569	0.33607	0.22519067	0.47456	0.14690569	0.33607	0.22519067	0.47455	-6.969	0.53807	T	.	.	0.104	0.28778	B	.;.	.;.	2.608920	0.33880	19.47	0.99572187192063788	0.72440	0.12758	0.17462	N	AEFDGBCI	0.790903	0.71966	D	-0.572220325920196	0.19793	1.038631	-0.921737755362056	0.11582	0.5909028	0.999999989121219	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.38	-8.0	0.00995	1.182000	0.31639	-0.520000	0.08695	-1.001000	0.01808	0.039000	0.20931	0.000000	0.08366	0.012000	0.09680	0.7503:0.1133:0.0717:0.0648	11.156	0.47712	933	0.16026	.;.	.	.	.	.	.	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	1378.98	33	chr14	100329532	.	C	T	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=821;ExcessHet=0.0000;FS=4.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.269;SOR=1.021	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1393,0,1166	20	0	1	0
chr14	104026784	104026784	G	A	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon28:c.G3127A:p.G1043S,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.451	B	0.061	B	0.000	D	1.000	D	1.485	L	3.92	T	-0.859	T	0.210	T	0.308	0.861	8.487	3.59	0.648	2.848	11.826	0.059	0.0161544196768	7.7e-05	0.000199681	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs200584602	3.147e-05	3.147e-05	1.497e-05	4.813e-05	0.0003	2.412e-05	2.158e-05	0.0002	0.0002	2.987e-05	4.472e-05	0	0	0	0	1.169e-05	9.938e-05	0.0003	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0004	1.26e-05	7.98e-06	7.312e-05	3.037e-05	2.408e-05	0	0	0	0.0004	0	0	0	0	0.0004	0.097	0.30943	T	0.345	0.17750	T	0.011	0.15914	B	0.004	0.10090	B	0.000411	0.44736	D	0.096704	0.999997	0.58761	D	2.39	0.68882	M	3.9	0.03516	T	-2.13	0.48354	N	0.352	0.39356	-0.8589	0.51341	T	0.210	0.56987	T	10	0.08192012	0.13464	T	0.016154	0.37263	T	0.074	0.21613	.	.	0.159798565429	0.15598	0.47441972510095753	0.47360	0.210751915057	0.23571	0.301711678505	0.10655	T	0.107542	0.41984	T	-0.40251	0.02229	T	-0.511407	0.21170	T	0.113655537366867	0.13798	T	0.724428	0.33821	T	0.051778693	0.09559	0.12636548	0.30434	0.0535053	0.10134	0.118644625	0.28637	-7.205	0.55517	T	.	.	0.097	0.18080	B	.;.	.;.	2.035927	0.25880	16.92	0.79523662272665396	0.12780	0.93582	0.58611	D	AEFGBI	0.346370	0.44121	N	-0.385992638939906	0.25967	1.413648	-0.427490360785832	0.24194	1.323534	0.983459653883287	0.30561	0.549168	0.22868	0	0.59043	0.45803	0	0.657636	0.52715	0	0.616125	0.45549	0	.	.	5.4	3.59	0.40253	2.933000	0.48641	4.972000	0.46406	-0.119000	0.14319	0.999000	0.42656	1.000000	0.68203	0.651000	0.32720	0.1425:0.0:0.8575:0.0	11.826	0.51541	528	0.73785	.;.	.	.	.	.	.	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	2412.98	33	chr14	104026784	.	G	A	2412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=874;ExcessHet=0.0000;FS=2.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.084;SOR=0.808	GT:AD:DP:GQ:PL	0/1:80,95:175:99:2427,0,1785	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	1|1:0,208,0:208:99:1|1:104946204_C_T:9316,626,0,9316,626,9316:104946204	1	7	12	0
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L	.	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.029	B	0.009	B	.	.	1.000	N	2.37	M	4.88	T	-0.993	T	0.009	T	0.07	0.929	8.784	0.194	-0.257	0.787	7.173	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	372.54	1829	chr14	104949281	.	G	A	372.54	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.823e+00;DP=1829;ExcessHet=0.1773;FS=29.490;InbreedingCoeff=0.1289;MLEAC=3;MLEAF=0.115;MQ=42.91;MQRankSum=1.22;QD=7.30;ReadPosRankSum=3.71;SOR=0.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,4:17:99:0|1:104949256_A_G:129,0,534:104949256	11	0	2	8
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A	.	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-1.425	N	5.92	T	-0.974	T	0.001	T	0.022	-0.352	2.336	-3.46	-2.072	-0.254	6.357	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	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	0.1923	1041.93	10	chr14	104949306	.	T	C	1041.93	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.730e-01;DP=1943;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5554;MLEAC=7;MLEAF=0.269;MQ=56.75;MQRankSum=-1.450e+01;QD=4.53;ReadPosRankSum=0.363;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:104949256_A_G:180,12,0:104949256	10	2	1	8
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T	.	.	455	1049	14	4	0	22	0.0103774	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.57	T	0.999	D	0.958	D	.	.	1.000	N	1.96	M	5.55	T	-0.931	T	0.008	T	0.088	2.469	14.22	0.935	0.149	0.432	5.083	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	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	0.07143	616.66	42	chr14	104949324	.	C	T	616.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=2344;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6392;MLEAC=3;MLEAF=0.071;MQ=46.39;MQRankSum=0.112;QD=30.83;ReadPosRankSum=0.00;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:12:43:0|1:104949256_A_G:290,0,43:104949256	19	1	1	0
chr14	104950652	104950672	CCCTTAACATCTATCTGGGGC	-	exonic	AHNAK2	.	nonframeshift deletion	AHNAK2:NM_001350929:exon7:c.4479_4499del:p.Q1495_P1501del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.541e-05	0	0	0	0	3.06e-05	0	6.132e-05	3.84e-05	1	26028	rs760272975	5.555e-06	1.379e-05	2.764e-06	8.372e-06	5.092e-05	2.39e-06	1.73e-06	9.36e-06	4.6e-06	0	0	0	5.092e-05	0	0	2.736e-06	0	3.523e-05	0	6.673e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	237.4	280	chr14	104950651	.	GCCCTTAACATCTATCTGGGGC	G	237.4	.	AC=2;AF=0.048;AN=42;DP=5092;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9934;MLEAC=2;MLEAF=0.048;MQ=39.21;QD=29.48;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,6:6:19:265,19,0	20	1	0	0
chr14	104951061	104951061	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4090A:p.E1364K	.	.	834	687	1	0	0	1	0.000727273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.003	B	.	.	1.000	N	-0.805	N	5.77	T	-0.941	T	0.001	T	0.163	-0.041	3.803	-0.343	-0.027	-0.845	3.825	0.016	.	.	0.00379393	0.0002	0.0008	0.0001	0.0001	0	7.199e-05	0	0.0003	0.000304	47	154602	rs558434835	0.0003	0.0003	0.0003	0.0003	0.0065	0.0003	0.0002	0.0045	0.0038	0.0007	8.436e-05	0	0.0027	5.215e-05	0.0065	0.0001	0.0005	0.0002	0.0003	0.0003	0.0004	0.0002	0.0009	0.0002	0.0002	0.0005	0.0004	0.0007	0	9.117e-05	0	0.0009	0	0	9.948e-05	0.0007	0	0.967	0.02065	T	0.779	0.04344	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.275	0.09989	N	5.77	0.00687	T	-0.28	0.11547	N	0.227	0.25499	-0.9409	0.42473	T	0.001	0.00348	T	9	0.0061160624	0.00138	T	.	.	.	0.016	0.02506	0.25	0.18757	0.0138822411134	0.00435	0.008763982729690596	0.00840	.	.	0.216902032495	0.01139	T	0.016724	0.13769	T	-0.606687	0.00133	T	-0.689792	0.06401	T	0.00158377754669315	0.00016	T	0.536546	0.18022	T	0.024663081	0.01321	0.04016511	0.04279	0.024663081	0.01321	0.04016511	0.04279	-5.674	0.43461	T	.	.	0.091	0.13221	B	.	.	0.711841	0.10810	7.490	0.81967624865579636	0.13951	0.01435	0.04825	N	AEFBI	.	.	.	-1.87916177843528	0.00379	0.01628306	-1.814476327183	0.00714	0.03180832	1.08505472870929E-4	0.05123	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.16	-0.343	0.12004	-0.379000	0.07494	-14.750000	0.00388	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0903:0.4243:0.2784:0.207	3.825	0.08364	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	0.09091	206.35	1726	chr14	104951061	.	C	T	206.35	.	AC=2;AF=0.091;AN=22;DP=1726;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9829;MLEAC=2;MLEAF=0.091;MQ=31.66;QD=29.31;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5:5:15:1|1:104951061_C_T:225,15,0:104951061	10	1	0	10
chr14	104953010	104953010	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2141A:p.R714Q	.	.	432	1061	28	1	0	30	0.0139405	.	.	2807597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.276	B	0.026	B	.	.	1.000	N	0.915	L	5.83	T	-0.953	T	0.002	T	0.077	-0.272	2.694	-4.76	-2.317	-0.950	9.798	0.023	0.00458819682603	.	0.00179712	0.0013	0.0007	0.0020	0.0005	0	0.0014	0.0033	0.0012	0.0011142	29	26028	rs199658132	0.0011	0.0014	0.0010	0.0011	0.0317	0.0010	0.0010	0.0279	0.0265	0.0011	0.0020	0.0078	0.0012	0	0.0317	0.0007	0.0026	0.0009	0.0015	0.0020	0.0016	0.0013	0.0039	0.0013	0.0012	0.0031	0.0028	0.0010	0	0.0039	0.0049	0.0022	0.0004	0.0556	0.0009	0.0033	0.0006	0.489	0.08018	T	0.351	0.17425	T	0.276	0.31942	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	5.83	0.00652	T	-0.2	0.10136	N	0.053	0.02462	-0.9531	0.40433	T	0.002	0.00646	T	9	0.007112503	0.00162	T	0.004588	0.11346	T	0.023	0.04649	.	.	0.0138822411134	0.00435	0.013048771247776631	0.01262	.	.	0.192598477006	0.00274	T	0.020291	0.16003	T	-0.701539	0.00036	T	-0.787753	0.02227	T	0.00167935875739516	0.00017	T	0.317468	0.06331	T	0.009478198	0.00003	0.027726961	0.00948	0.009478198	0.00003	0.027726961	0.00948	-2.732	0.07575	T	.	.	0.074	0.04932	B	.	.	-0.388694	0.02254	0.232	0.59300482000986832	0.06192	0.00179	0.01050	N	AEFBI	.	.	.	-2.1233130334246	0.00114	0.00486927	-2.24356751105837	0.00089	0.003924728	0.00120663441852657	0.08334	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.38	-4.76	0.02994	-1.122000	0.03378	-4.968000	0.01906	-4.097000	0.00043	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1978:0.0:0.8022	9.798	0.39916	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	348.98	72	chr14	104953010	.	C	T	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.82;DP=3001;ExcessHet=0.0000;FS=42.401;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.97;MQRankSum=-1.260e+01;QD=1.19;ReadPosRankSum=-1.079e+00;SOR=2.111	GT:AD:DP:GQ:PL	0/1:258,36:294:99:363,0,6581	20	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:65,0,30:95:99:.:.:613,808,2750,0,1942,1852	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,11,0:27:99:.:.:277,0,636,325,672,997	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,11,0:27:99:.:.:277,0,636,325,672,997	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,0,11:27:99:.:.:277,325,997,0,672,636	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11,0:26:99:0|1:20534664_CT_*:972,0,549,351,583,907:20534664	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11,0:26:99:0|1:20534664_CT_*:972,0,549,351,583,907:20534664	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,0,11:26:99:0|1:20534664_CT_*:969,351,910,0,586,552:20534664	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,0,11:26:99:0|1:20534664_CT_*:969,351,910,0,586,552:20534664	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11,0:26:99:0|1:20534664_CT_*:969,0,552,710,628,1277:20534664	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11,0:26:99:0|1:20534664_CT_*:969,0,552,710,628,1277:20534664	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11,0:26:99:0|1:20534664_CT_*:969,0,552,710,628,1277:20534664	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,0,11:26:99:0|1:20534664_CT_*:969,710,1277,0,628,552:20534664	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,11,0:26:99:0|1:20534664_CT_*:969,0,552,710,628,1277:20534664	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	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	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:12,0,11:23:99:0|1:20534664_CT_*:975,708,1150,0,503,429:20534664	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:12,0,11:23:99:0|1:20534664_CT_*:975,708,1150,0,503,429:20534664	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:13,0,11:24:99:0|1:20534664_CT_*:972,708,1192,0,545,471:20534664	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,11,0:24:99:0|1:20534664_CT_*:972,0,471,708,545,1192:20534664	5	0	10	2
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	1/1:0,4,0:4:12:.:.:99,12,0,99,12,99	3	3	2	10
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:113,0,41:154:99:.:.:1346,1686,6207,0,4520,4393	10	0	3	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3879.31	36	chr15	23361385	.	C	*,G	3879.31	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-6.440e-01;DP=1602;ExcessHet=2.2868;FS=1.792;InbreedingCoeff=-0.1085;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.41;MQRankSum=-1.962e+00;QD=3.42;ReadPosRankSum=2.34;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,41,0:154:99:.:.:1346,0,4393,1686,4520,6207	11	0	6	0
chr15	23364437	23364437	G	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.G803A:p.C268Y,	.	.	42	1469	11	0	0	11	0.00373008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000819823101942	.	.	0.0011	0	0.0031	0	0	0.0013	0.0023	0.0003	0.0002689	7	26028	rs772641651	0.0006	0.0007	0.0006	0.0006	0.0113	0.0006	0.0006	0.0090	0.0082	0.0005	0.0027	0.0093	0	0	0.0113	0.0003	0.0014	0.0003	0.0007	0.0007	0.0006	0.0008	0.0014	0.0006	0.0005	0.0009	0.0008	9.637e-05	0	0.0014	0.0098	0	0	0.0102	0.0005	0.0028	0.0006	0.094	0.31383	T	0.299	0.20422	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.05	0.20664	T	-4.38	0.77143	D	0.272	0.30800	.	.	.	.	.	.	.	0.010099173	0.00226	T	8.2E-4	0.00670	T	.	.	.	.	0.612370560561	0.60925	0.3608783859840835	0.36001	2.31666214769	0.96604	.	.	.	.	.	.	-0.460625	0.00975	T	-0.438424	0.28985	T	.	.	.	0.528747	0.17479	T	0.09308459	0.21855	0.2032041	0.44386	0.09308459	0.21855	0.2032041	0.44385	-2.686	0.07186	T	.	.	0.154	0.34138	B	.	.	1.016869	0.13964	10.52	0.64266670372720747	0.07446	0.02243	0.06504	N	AEFCI	0.042528	0.06610	N	.	.	.	.	.	.	2.70654832665272E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.848	-0.456	0.11581	4.691000	0.61424	5.059000	0.47069	-0.594000	0.04639	1.000000	0.71638	0.502000	0.25210	0.001000	0.02609	0.7483:0.0:0.2517:0.0	4.115	0.09548	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2319.98	84	chr15	23364437	.	G	A	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.769e+00;DP=1548;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.04;MQRankSum=3.34;QD=10.00;ReadPosRankSum=-6.050e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:123,109:232:99:2334,0,2984	20	0	1	0
chr15	23364999	23364999	G	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.G1104C:p.E368D,	.	.	422	1092	6	2	0	10	0.00455789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00371159515772	.	.	0.0014	0	0.0060	0	0	0.0015	0	0	0.0001552	24	154602	rs768769016	0.0006	0.0006	0.0006	0.0006	0.0088	0.0006	0.0006	0.0065	0.0057	0.0006	0.0028	0.0094	0	0	0.0088	0.0003	0.0014	0.0003	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0009	0.0008	0.0001	0	0.0014	0.0097	0	0	0.0109	0.0005	0.0036	0.0007	0.049	0.39820	D	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.76	0.25996	T	-2.1	0.47852	N	0.224	0.25130	.	.	.	.	.	.	.	0.009682506	0.00218	T	0.003712	0.08589	T	.	.	.	.	0.423836183345	0.42003	0.04018051843152434	0.03964	2.66104356415	0.98468	.	.	.	.	.	.	-0.654749	0.00068	T	-0.717269	0.04929	T	.	.	.	0.818018	0.47523	T	0.058084384	0.11641	0.06752141	0.13980	0.058084384	0.11641	0.06752141	0.13980	-4.2	0.26751	T	.	.	0.170	0.37407	B	.	.	1.233965	0.16288	12.44	0.80868612052640343	0.13408	0.03828	0.09172	N	AEFI	0.038102	0.05342	N	.	.	.	.	.	.	1.45447823611377E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	0.678	0.17136	0.171000	0.16497	-0.355000	0.09716	-0.718000	0.03832	0.452000	0.26581	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	5.110	0.14136	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1181.98	32	chr15	23364999	.	G	C	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.477e+00;DP=834;ExcessHet=0.0000;FS=4.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.64;MQRankSum=-6.900e-02;QD=13.91;ReadPosRankSum=-9.000e-03;SOR=1.157	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1196,0,759	20	0	1	0
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	1/2:1,75,69:145:99:.:.:5320,2367,2864,3028,0,2828	0	0	2	0
chr15	25679571	25679571	T	A	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon21:c.A4270T:p.T1424S,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.520	N	1.000	N	0	N	2.97	T	-0.936	T	0.010	T	0.076	-0.776	0.743	-0.541	0.056	-0.076	0.489	0.035	0.00308858825043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	2.736e-06	1.363e-06	4.139e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.555e-05	0	0	0	0	0	0.0005	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.784	0.04274	T	0.0	0.02946	B	0.0	0.01387	B	0.520298	0.11749	N	0.762633	1	0.08975	N	-0.345	0.03330	N	2.97	0.09450	T	0.28	0.04233	N	0.027	0.00571	-0.9365	0.43164	T	0.010	0.03582	T	10	0.037715405	0.02143	T	0.003089	0.06696	T	0.035	0.08770	0.249	0.18602	0.110392049598	0.10638	0.18771827261762275	0.18689	0.143847666197	0.16248	0.276868879795	0.07060	T	0.019047	0.15248	T	-0.384173	0.02931	T	-0.789614	0.02175	T	0.0579982772469521	0.06851	T	0.257074	0.04045	T	0.0261787	0.01642	0.024274956	0.00444	0.0261787	0.01642	0.024274956	0.00444	-1.832	0.02606	T	.	.	0.086	0.10449	B	.	.	-0.213727	0.03021	0.461	0.20324953562267037	0.00726	0.02867	0.07637	N	AEFDBI	0.056172	0.10363	N	-1.49158839476692	0.01909	0.08377429	-1.45939529536305	0.02686	0.1240027	0.929685596913346	0.26978	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.564101	0.26826	0	.	.	5.12	-0.541	0.11265	-0.149000	0.10189	0.157000	0.15360	-0.929000	0.02155	0.000000	0.06391	0.003000	0.18671	0.001000	0.02609	0.3615:0.2263:0.1176:0.2947	0.489	0.00522	597	0.68309	.	.	.	.	.	.	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	1118.98	36	chr15	25679571	.	T	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.609;DP=978;ExcessHet=0.0000;FS=3.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.624;SOR=0.432	GT:AD:DP:GQ:PL	0/1:64,46:110:99:1133,0,1689	20	0	1	0
chr15	28842769	28842769	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1335T:p.K445N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.964e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13426334	0.25553	T	.	.	.	.	.	.	.	.	.	0.014084711086313456	0.01365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.660234	0.26930	T	0.11011243	0.26029	0.18088396	0.40916	0.11011243	0.26029	0.18088396	0.40915	-10.411	0.76334	D	.	.	0.457	0.62562	A	.	.	1.422859	0.18399	13.71	0.77069214936695363	0.11724	0.04961	0.10726	N	AEFCI	.	.	.	.	.	.	.	.	.	1.96097516218287E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	0.432	0.15742	0.422000	0.21016	0.222000	0.16086	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	51.12	2	chr15	28842769	.	C	A	51.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.820e-01;DP=78;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0828;MLEAC=1;MLEAF=0.028;MQ=53.79;MQRankSum=-1.480e+00;QD=5.68;ReadPosRankSum=-2.820e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:28842769_C_A:63,0,288:28842769	17	0	1	3
chr15	28842774	28842774	G	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.C1330T:p.R444W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1332133628	1.495e-05	4.521e-05	7.121e-06	2.36e-05	4.882e-05	8.85e-06	7.16e-06	7.93e-06	6.11e-06	0	0	0	3.926e-05	0	0	1.421e-05	2.36e-05	4.882e-05	0.0002	0.0005	0.0002	0.0001	0.0010	9.513e-05	7.452e-05	0.0002	7.505e-05	0.0002	0	0.0002	0	0	0.0005	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05602908	0.06217	T	.	.	.	.	.	.	.	.	.	0.04232661021332076	0.04177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630337	0.24523	T	0.25865686	0.48916	0.18417773	0.41454	0.25865686	0.48916	0.18417773	0.41453	-6.057	0.46753	T	.	.	0.126	0.26762	B	.	.	0.617512	0.09862	6.621	0.57542920807751563	0.05792	0.00376	0.01908	N	AEFDCI	.	.	.	.	.	.	.	.	.	3.85059366971751E-5	0.03775	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-4.195000	0.00314	-11.787000	0.00575	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	89.19	2	chr15	28842774	.	G	A,T	89.19	.	AC=1,1;AF=0.029,0.029;AN=34;BaseQRankSum=-2.530e-01;DP=79;ExcessHet=0.1336;FS=0.000;InbreedingCoeff=-0.1257;MLEAC=1,1;MLEAF=0.029,0.029;MQ=53.94;MQRankSum=-1.480e+00;QD=6.37;ReadPosRankSum=1.65;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:7,0,2:9:63:0|1:28842769_C_A:63,84,378,0,294,288:28842769	15	0	1	4
chr15	28843353	28843353	G	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.C751T:p.R251W,	.	.	742	770	6	4	0	14	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.0010758	28	26028	rs529344201	0.0059	0.0044	0.0057	0.0061	0.0116	0.0057	0.0056	0.0091	0.0084	0.0011	0.0038	0.0061	4.248e-05	0.0012	0.0116	0.0067	0.0062	0.0112	0.0045	0.0041	0.0044	0.0046	0.0145	0.0042	0.0041	0.0113	0.0101	0.0009	0.0312	0.0052	0.0057	0.0003	0.0004	0.0096	0.0060	0.0056	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063896775	0.00145	T	.	.	.	.	.	.	.	.	.	0.03401871037402047	0.03349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518148	0.16784	T	0.14974515	0.34123	0.119406305	0.28820	0.14974515	0.34123	0.119406305	0.28819	-4.523	0.31188	T	.	.	0.105	0.19235	B	.	.	1.128557	0.15150	11.63	0.60330034551597012	0.06437	0.01351	0.04634	N	AEFCI	.	.	.	.	.	.	.	.	.	1.72174777699312E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.634	0.634	0.16889	-4.576000	0.00246	-1.531000	0.05232	0.340000	0.19754	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3388:0.0:0.6612:0.0	3.055	0.05808	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	94.84	9	chr15	28843353	.	G	A	94.84	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.347;DP=214;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0591;MLEAC=1;MLEAF=0.026;MQ=44.10;MQRankSum=1.80;QD=11.86;ReadPosRankSum=2.45;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,4:8:87:0|1:28843353_G_A:108,0,87:28843353	18	0	1	2
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	1/1:0,95,0:100:99:3857,301,0,3558,302,3396	0	10	0	0
chr15	32168303	32168303	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.G1354A:p.E452K	Schizophrenia, neurophysiologic defect in	.	51	1428	43	0	0	43	0.0148327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.948	P	0.531	P	0.002	N	1.000	D	1.55	L	1.82	T	-1.121	T	0.070	T	0.591	4.169	21.6	3.99	2.511	7.224	14.406	0.159	0.00657931159067	.	.	0.0046	0	0	0	.	0.0081	.	0	0.0002305	6	26028	rs199504752	0.0045	0.0050	0.0044	0.0047	0.0153	0.0044	0.0044	0.0121	0.0109	0.0007	0.0049	0.0080	2.88e-05	0.0015	0.0153	0.0045	0.0053	0.0085	0.0034	0.0039	0.0036	0.0032	0.0076	0.0031	0.0030	0.0057	0.0053	0.0006	0.0077	0.0068	0.0047	0	0.0013	0.0179	0.0042	0.0088	0.0076	0.278	0.15613	T	0.264	0.23707	T	0.846	0.46778	P	0.531	0.48577	P	0.002256	0.36929	N	0.317619	0.999998	0.58761	D	1.82	0.47800	L	1.82	0.25018	T	-2.32	0.51968	N	0.429	0.53532	-1.1207	0.02288	T	0.070	0.28478	T	10	0.007461101	0.00170	T	0.006579	0.17358	T	0.159	0.41286	.	.	0.447901950027	0.44410	0.5973885767010677	0.59669	.	.	0.695635795593	0.66515	T	0.746071	0.93005	D	-0.0649489	0.42131	T	-0.331071	0.41350	T	0.0448825108585944	0.04581	T	0.953805	0.82399	D	0.21978775	0.44518	0.20101556	0.44061	0.21978775	0.44518	0.20101556	0.44060	-12.443	0.86942	D	.	.	0.117	0.37255	B	.;.;.;.;.	.;.;.;.;.	4.729647	0.76160	26.5	0.9986754952357213	0.94547	0.97502	0.75165	D	AEFGI	0.915276	0.87984	D	0.406373100601256	0.61773	4.382947	0.429274054156304	0.63395	4.572528	0.999550702800369	0.40362	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.99	3.99	0.45527	6.388000	0.73122	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.406	0.66656	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane 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	246.11	26	chr15	32168303	.	G	A	246.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=729;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0501;MLEAC=2;MLEAF=0.048;MQ=26.77;MQRankSum=0.761;QD=3.67;ReadPosRankSum=2.06;SOR=0.087	GT:AD:DP:GQ:PL	0/1:20,7:27:99:135,0,554	19	0	2	0
chr15	40272639	40272639	G	A	exonic	BUB1B-PAK6;PAK6	.	nonsynonymous SNV	PAK6:NM_001276717:exon4:c.G1274A:p.R425Q	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.748	P	0.000	D	1.000	D	0.575	N	1.0	T	-0.666	T	0.238	T	0.563	4.675	25.8	5.32	2.495	3.635	19.036	0.175	0.0181280413464	0.0008	0.000998403	0.0010	0.0003	0.0002	0.0002	0	0.0014	0	0.0014	0.0009314	144	154602	rs145647822	0.0012	0.0012	0.0012	0.0013	0.0014	0.0012	0.0012	0.0014	0.0013	0.0001	0.0003	3.828e-05	0.0001	0.0001	0.0002	0.0014	0.0010	0.0013	0.0011	0.0011	0.0011	0.0010	0.0023	0.0009	0.0009	0.0014	0.0013	0.0005	0	0.0011	0	0.0002	9.416e-05	0	0.0017	0.0005	0.0023	0.211	0.20078	T	0.098	0.43721	T	0.998	0.73220	D	0.741	0.55725	P	0.000390	0.44960	D	0.188888	0.999976	0.53665	D	0.695	0.17993	N	-0.15	0.65192	T	-0.83	0.22727	N	0.546	0.57860	-0.6660	0.62009	T	0.238	0.60571	T	10	0.036922723	0.02016	T	0.018128	0.40089	T	0.175	0.44197	.	.	0.81854064889	0.81682	0.5483410682020672	0.54760	0.667960691037	0.59274	0.762416779995	0.76290	T	0.178754	0.52951	T	-0.308792	0.07854	T	-0.251713	0.49648	T	0.047239877984073	0.05008	T	0.922108	0.71672	D	0.44630244	0.63806	0.24089983	0.49474	0.44630244	0.63807	0.24089983	0.49473	-5.389	0.40813	T	.	.	0.083	0.12418	B	.;.;.;.;.	.;.;.;.;.	4.615419	0.73231	26.0	0.99937013797585528	0.99661	0.89125	0.49405	D	AEFBHCI	0.508918	0.53860	D	0.431766602557291	0.63175	4.546473	0.488626555078669	0.67233	5.056898	0.999999898334937	0.74766	0.631981	0.41245	0	0.61073	0.52368	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	5.32	5.32	0.75377	3.727000	0.54711	8.728000	0.78178	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.036	0.92961	628	0.65206	.;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|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	2252.98	39	chr15	40272639	.	G	A	2252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=983;ExcessHet=0.0000;FS=4.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=0.574;SOR=0.425	GT:AD:DP:GQ:PL	0/1:78,90:168:99:2267,0,1837	20	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	5832.96	33	chr15	40356171	.	T	C,*	5832.96	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.782;DP=1060;ExcessHet=0.7503;FS=26.034;InbreedingCoeff=0.0319;MLEAC=8,3;MLEAF=0.267,0.100;MQ=59.86;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-8.330e-01;SOR=1.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:40,0,12:52:99:.:.:316,436,2008,0,1572,1534	8	1	4	6
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4456.62	33	chr15	40356195	.	T	C,*	4456.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=-1.037e+00;DP=1008;ExcessHet=0.5418;FS=9.495;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.85;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.283e+00;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:40,0,12:52:99:.:.:316,436,2008,0,1572,1534	8	1	4	6
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2667	4344.62	33	chr15	40356196	.	G	C,*	4344.62	.	AC=6,2;AF=0.200,0.067;AN=30;BaseQRankSum=0.941;DP=999;ExcessHet=0.5418;FS=8.160;InbreedingCoeff=-0.1085;MLEAC=7,2;MLEAF=0.233,0.067;MQ=59.84;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-1.374e+00;SOR=1.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:40,0,12:52:99:.:.:316,436,2008,0,1572,1534	8	1	4	6
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	4345.87	33	chr15	40356197	.	G	A,*	4345.87	.	AC=6,2;AF=0.176,0.059;AN=34;BaseQRankSum=0.00;DP=1001;ExcessHet=0.5418;FS=8.243;InbreedingCoeff=-0.0558;MLEAC=7,2;MLEAF=0.206,0.059;MQ=59.84;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-1.551e+00;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:40,0,12:52:99:.:.:316,436,2008,0,1572,1534	10	1	4	4
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.993	D	0.967	D	0.000	D	1.000	D	1.7	L	-3.11	D	0.770	D	0.844	D	0.554	4.377	23.1	5.9	2.793	9.434	20.272	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.1	252.56	57	chr15	41096253	.	G	C	252.56	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-3.708e+00;DP=1328;ExcessHet=0.6776;FS=161.759;InbreedingCoeff=-0.1234;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.522;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,15:95:65:.:.:65,0,2123	16	0	4	1
chr15	42071859	42071859	G	C	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon15:c.C1488G:p.F496L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.552	N	2.98	M	1.78	T	-0.748	T	0.165	T	0.847	3.566	18.18	-2.47	-0.966	0.277	11.923	0.337	0.0189499202815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000068	0.52346	D	0.074327	0.551672	0.31329	N	3.625	0.93960	H	1.78	0.25678	T	-4.91	0.81595	D	0.879	0.87699	-0.7478	0.58050	T	0.165	0.50225	T	10	0.9628676	0.95720	D	0.01895	0.41175	T	0.337	0.65913	0.829	0.93915	0.467839254973	0.46411	0.8474293871616997	0.84703	0.310891961663	0.33396	0.571959137917	0.48955	T	0.16752	0.51418	T	0.141174	0.68435	D	-0.0349897	0.68036	D	0.991437375545502	0.81729	D	0.910709	0.68343	D	0.9609164	0.97373	0.8388199	0.90761	0.9609164	0.97373	0.8388199	0.90761	-6.818	0.52693	T	.	.	0.864	0.80534	P	.	.	2.039069	0.25915	16.93	0.99630485932681878	0.76020	0.63886	0.32230	D	AEFDBI	0.110592	0.21926	N	0.0275467151348708	0.43110	2.610448	-0.220466815582195	0.30802	1.737545	0.974168191434605	0.29518	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.79	-2.47	0.06070	-0.278000	0.08523	-0.049000	0.12570	-0.106000	0.15538	0.003000	0.16062	0.000000	0.08366	0.826000	0.38927	0.4255:0.0:0.5745:0.0	11.923	0.52087	64	0.97283	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	800.98	36	chr15	42071859	.	G	C	800.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.177e+00;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=-9.100e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,40:90:99:815,0,1152	20	0	1	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	0/1:237,294,0:531:99:.:.:6680,0,5886,7390,6720,14110	9	2	9	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	0/1:82,49:131:99:210,0,1346	4	0	13	4
chr15	55359627	55359627	C	G	exonic	CCPG1	.	nonsynonymous SNV	CCPG1:NM_001204450:exon8:c.G2146C:p.V716L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.458	P	0.125	B	0.154	N	0.974	N	1.39	L	3.86	T	-1.059	T	0.052	T	0.232	1.686	11.60	2.92	0.807	0.578	6.457	0.027	0.00601619530751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.821e-05	0.0007	5.573e-05	4.065e-05	6.087e-05	3.875e-05	3.55e-05	4.372e-05	3.933e-05	6.087e-05	0	3.858e-05	2.531e-05	0	0	5.531e-05	5.06e-05	2.337e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.32296	T	0.523	0.41074	T	0.458	0.36312	P	0.125	0.32635	B	0.154312	0.17865	N	0.613991	0.97429	0.25500	N	2.215	0.62545	M	3.86	0.30669	T	-0.99	0.26200	N	0.059	0.12627	-1.0586	0.12108	T	0.052	0.22269	T	10	0.053824097	0.05635	T	0.006016	0.15698	T	0.027	0.05988	0.213	0.13210	0.082315109003	0.07666	0.23983706607780256	0.23897	0.243686580979	0.26869	0.30338126421	0.10907	T	0.009022	0.08238	T	-0.188163	0.22529	T	-0.50806	0.21514	T	0.458560168743134	0.31113	T	0.682032	0.33613	T	0.077258244	0.17524	0.06391153	0.12730	0.077258244	0.17524	0.06391153	0.12729	-2.542	0.09967	T	.	.	0.230	0.47283	B	.;.;.;.	.;.;.;.	1.561984	0.20005	14.54	0.97137709401516181	0.32529	0.35420	0.25298	N	AEFBI	0.475035	0.51905	N	-0.296313876962296	0.29291	1.623008	-0.23329789577845	0.30350	1.70816	0.891671508385161	0.25865	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.83	2.92	0.32998	0.593000	0.23700	1.450000	0.26598	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.5919:0.0:0.4081	6.457	0.21139	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	0.03125	45.99	109	chr15	55359627	.	C	G	45.99	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.203e+00;DP=2072;ExcessHet=0.0000;FS=179.277;InbreedingCoeff=-0.0922;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=0.586;SOR=11.144	GT:AD:DP:GQ:PL	0/1:91,41:138:58:58,0,1442	15	0	1	5
chr15	63345541	63345541	C	T	exonic	CA12	.	stopgain	CA12:NM_001293642:exon3:c.G185A:p.W62X	Hyperchlorhidrosis, isolated, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.980	37	5.19	2.441	7.717	17.352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.905	0.90590	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.580595	0.99096	42	0.99666080476407826	0.78266	0.94477	0.61292	D	AEFDGBCI	0.282155	0.39556	N	0.875250379985906	0.90496	10.43014	0.744015538159865	0.85711	8.662272	1.0	0.98316	0.675385	0.55134	0	0.59043	0.45803	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.19	5.19	0.71428	7.897000	0.85944	7.700000	0.66237	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:1.0:0.0:0.0	17.352	0.87216	674	0.60593	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;.;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	.	.	.	Pathogenic	1	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	1181.98	33	chr15	63345541	.	C	T	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.270e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.068;SOR=0.638	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1196,0,1457	20	0	1	0
chr15	65400920	65400920	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon5:c.G727A:p.D243N,	.	.	421	1076	24	1	0	26	0.0119376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.316	B	0.331	B	0.000	D	0.987	D	1.895	L	0.2	T	-0.722	T	0.195	T	0.074	4.436	23.6	5.15	2.409	3.591	18.648	0.168	.	0.0065	0.00319489	0.0082	0.0015	0.0042	0	0.0142	0.0099	0.0156	0.0096	0.00793	1226	154602	rs35223184	0.0100	0.0100	0.0102	0.0099	0.0109	0.0099	0.0098	0.0107	0.0107	0.0019	0.0045	0.0086	2.519e-05	0.0132	0.0073	0.0109	0.0090	0.0092	0.0071	0.0071	0.0066	0.0075	0.0103	0.0067	0.0066	0.0097	0.0094	0.0015	0.0022	0.0061	0.0081	0	0.0128	0.0068	0.0103	0.0047	0.0087	0.074	0.34621	T	0.029	0.54541	D	0.316	0.32901	B	0.331	0.42107	B	0.000351	0.45440	D	0.197388	0.987	0.40585	D	1.625	0.41611	L	0.2	0.60111	T	-1.53	0.37178	N	0.345	0.38643	-0.7224	0.59344	T	0.195	0.54869	T	10	0.00790751	0.00179	T	.	.	.	0.168	0.42943	.	.	0.606262950116	0.60311	0.4363160163768447	0.43548	0.141824913144	0.15982	0.425697028637	0.28620	T	0.019663	0.15622	T	-0.525935	0.00406	T	-0.51885	0.20412	T	0.0289151109726187	0.01824	T	0.774523	0.40643	T	0.2910968	0.52094	0.13779323	0.32927	0.2910968	0.52094	0.13779323	0.32926	-6.581	0.50907	T	.	.	0.125	0.26451	B	.	.	2.867318	0.37901	20.6	0.99857686324098682	0.93639	0.43895	0.27199	N	ALL	0.506759	0.53735	D	0.182778023657322	0.50372	3.22788	0.271385286996904	0.53875	3.554492	1.0	0.98316	0.839682	0.99964	0	0.703908	0.78521	0	0.736553	0.94036	0	0.526665	0.08891	0	.	.	5.15	5.15	0.70287	2.224000	0.42587	4.765000	0.44738	-0.190000	0.09434	0.999000	0.42656	1.000000	0.68203	0.641000	0.32449	0.0:1.0:0.0:0.0	18.648	0.91377	457	0.78953	Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	642.98	33	chr15	65400920	.	C	T	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.320e-01;DP=802;ExcessHet=0.0000;FS=1.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.94;ReadPosRankSum=-2.720e+00;SOR=1.042	GT:AD:DP:GQ:PL	0/1:51,30:81:99:657,0,1313	20	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.036	N	1.000	N	1.495	L	1.95	T	-0.665	T	0.376	T	0.064	2.879	15.59	2.88	0.719	0.773	6.818	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	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	0.09524	954.92	37	chr15	65624503	.	G	C	954.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.957e+00;DP=1530;ExcessHet=0.6776;FS=181.776;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.77;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,42:209:99:0|1:65624503_G_C:131,0,5450:65624503	17	0	4	0
chr15	75048565	75048565	C	T	exonic	PPCDC	.	nonsynonymous SNV	PPCDC:NM_001301103:exon3:c.C148T:p.R50W	.	.	.	.	.	.	.	.	.	.	.	3370080	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.87	H	0.77	T	0.199	D	0.460	T	0.937	4.593	25.0	5.49	2.592	4.512	18.362	0.540	0.0904678762803	.	.	8.327e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs777408463	1.3e-05	1.3e-05	1.089e-05	1.513e-05	5.038e-05	8.32e-06	6.7e-06	8.35e-06	6.42e-06	0	0	3.833e-05	5.038e-05	0	0	1.349e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.050133	1	0.81001	D	4.25	0.98048	H	0.77	0.49642	T	-7.99	0.96495	D	0.935	0.95725	0.199	0.85891	D	0.460	0.79038	T	10	0.8736944	0.86648	D	0.090468	0.75524	D	0.540	0.80782	0.689	0.82653	0.907821639614	0.90690	0.949995266895455	0.94982	0.550770171259	0.51932	0.629957199097	0.57140	T	0.565752	0.85539	D	0.182605	0.72281	D	0.193651	0.82775	D	0.99974650144577	0.98780	D	0.998383	0.99214	D	0.992442	0.99878	0.9796417	0.99809	0.992442	0.99879	0.9796417	0.99809	-10.964	0.79460	D	.	.	0.806	0.77555	P	.;.;.;.;.;.	.;.;.;.;.;.	5.739840	0.93325	33	0.99915897263404863	0.98379	0.88816	0.48928	D	AEFDBCI	0.797634	0.72442	D	0.94220441621007	0.93667	12.19457	0.852983186399658	0.93190	11.88099	0.999999999411692	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.669	0.65921	0	.	.	5.49	5.49	0.81022	4.564000	0.60546	4.831000	0.45200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	18.362	0.90321	406	0.82375	Flavoprotein;Flavoprotein;.;Flavoprotein;Flavoprotein;.	.	.	.	.	.	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	1232.98	36	chr15	75048565	.	C	T	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.690e-01;DP=782;ExcessHet=0.0000;FS=1.885;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=-7.760e-01;SOR=0.503	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1247,0,777	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|1:72,7:79:77:0|1:75689603_C_T:77,0,2890:75689603	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|1:89,10:99:99:0|1:75689631_A_G:152,0,3618:75689631	14	0	7	0
chr15	78234387	78234387	C	T	exonic	ACSBG1	.	nonsynonymous SNV	ACSBG1:NM_001199377:exon1:c.G115A:p.E39K	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.079	B	0.034	B	0.018	N	1.000	D	1.1	L	1.6	T	-1.097	T	0.059	T	0.46	2.504	14.33	4.61	2.257	2.084	13.313	0.086	0.0197280280183	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938844722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.145	0.33000	T	0.079	0.24468	B	0.034	0.22546	B	0.018172	0.27545	N	0.171312	0.999999	0.81001	D	0.69	0.16971	N	1.6	0.28604	T	-0.91	0.24460	N	0.279	0.31590	-1.0967	0.04514	T	0.059	0.24723	T	10	0.06940326	0.09953	T	0.019728	0.42166	T	0.086	0.25016	0.128	0.03331	0.294918367191	0.29099	0.28197531608173415	0.28110	0.381507700472	0.39505	0.34692376852	0.17469	T	0.175513	0.52513	T	-0.12592	0.32158	T	-0.418652	0.31229	T	0.273275834924894	0.23887	T	0.669433	0.27806	T	0.15828823	0.35620	0.13273355	0.31843	0.15828823	0.35620	0.13273355	0.31842	-4.106	0.25379	T	.	.	0.078	0.14015	B	.;.	.;.	2.011891	0.25564	16.81	0.99216230808173511	0.55747	0.16085	0.19224	N	AEFBI	0.124004	0.23987	N	-0.572618754472416	0.19781	1.037898	-0.538595489415071	0.21109	1.14037	0.999964574504183	0.48965	0.653281	0.48532	0	0.624146	0.53433	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	4.61	4.61	0.56724	2.376000	0.43947	2.563000	0.33324	0.599000	0.40250	0.594000	0.27698	0.023000	0.20922	0.278000	0.23967	0.0:1.0:0.0:0.0	13.313	0.59828	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	0	0	0	0	0.02381	895.98	35	chr15	78234387	.	C	T	895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.581;DP=791;ExcessHet=0.0000;FS=0.790;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.74;ReadPosRankSum=0.973;SOR=0.556	GT:AD:DP:GQ:PL	0/1:52,40:92:99:910,0,1234	20	0	1	0
chr15	80924679	80924679	G	A	exonic	CEMIP	.	nonsynonymous SNV	CEMIP:NM_018689:exon17:c.G2261A:p.R754Q	.	.	423	1098	1	0	0	1	0.000455166	.	.	3304023	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.992	D	0.000	D	0.985	D	1.48	L	0.46	T	-0.649	T	0.266	T	0.676	3.782	19.20	4.19	1.257	9.063	15.855	0.376	0.0377569364167	7.7e-05	0.000199681	6.62e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs202038667	8.414e-05	8.482e-05	7.895e-05	8.938e-05	0.0007	7.203e-05	6.75e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	9.982e-05	8.279e-05	2.319e-05	9.851e-05	9.842e-05	0.0001	9.401e-05	0.0002	6.004e-05	4.877e-05	7.873e-05	5.576e-05	0.0002	0	6.534e-05	0	0	0	0.0068	7.351e-05	0	0	0.115	0.28520	T	0.088	0.40586	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.985283	0.40262	D	1.585	0.39878	L	0.46	0.56281	T	-2.89	0.60665	D	0.927	0.93135	-0.6488	0.62767	T	0.266	0.63781	T	10	0.70393586	0.72618	D	0.037757	0.57812	D	0.376	0.69443	.	.	0.624915994163	0.62186	0.7637398637268005	0.76321	1.24940525845	0.81764	0.676162958145	0.63719	T	0.124443	0.44948	T	-0.108502	0.35015	T	-0.129203	0.61040	T	0.562284111976624	0.34941	D	0.936606	0.76191	D	0.39122814	0.60119	0.31082886	0.57092	0.39122814	0.60119	0.31082886	0.57091	-9.342	0.69871	D	.	.	0.441	0.61957	A	.;.;.	.;.;.	5.249469	0.88136	29.5	0.99904262459358795	0.97502	0.98317	0.81569	D	AEFBCI	0.848800	0.76562	D	0.352495714801279	0.58870	4.06215	0.319004360094115	0.56656	3.829386	0.999999999268535	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	5.12	4.19	0.48645	9.165000	0.93915	11.646000	0.93836	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:0.1364:0.8636:0.0	15.855	0.78748	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	1704.98	37	chr15	80924679	.	G	A	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-02;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=-2.740e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:46,69:115:99:1719,0,1024	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/2:37,4,34:79:99:654,795,1986,0,771,763	8	0	5	0
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C,	.	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	0.994	N	.	.	2.4	T	-1.009	T	0.036	T	0.204	0.413	6.242	0.762	0.748	-0.343	4.972	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	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	792.36	32	chr15	84240189	.	C	T	792.36	.	AC=5;AF=0.125;AN=40;BaseQRankSum=0.769;DP=806;ExcessHet=1.1607;FS=14.484;InbreedingCoeff=-0.1535;MLEAC=5;MLEAF=0.125;MQ=35.38;MQRankSum=-2.890e-01;QD=4.48;ReadPosRankSum=0.367;SOR=1.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,4:39:64:0|1:84240169_A_G:64,0,1418:84240169	15	0	5	1
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:100,0,68:176:99:1|0:84512431_TGTAGCCTCTCCTCCTGTTCAC_T:2114,2305,6445,0,3654,3247:84512431	8	0	5	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	1/1:0,126,0:126:99:4041,378,0,4041,378,4041	0	11	9	0
chr15	86546099	86546099	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon20:c.G2783A:p.G928D,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.007	B	0.011	B	0.042	U	0.856	N	-1.175	N	2.89	T	-0.933	T	0.007	T	0.105	-0.262	2.740	4.39	2.806	2.332	5.093	0.074	0.00173342372459	.	.	3.338e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs748513609	2.532e-05	2.531e-05	1.634e-05	3.44e-05	0.0010	1.869e-05	1.631e-05	0.0005	0.0003	0	0	3.83e-05	0	0	0.0010	5.398e-06	0.0001	0.0002	2.629e-05	2.627e-05	0	5.381e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	.	.	.	.	.	.	0.007	0.14184	B	0.011	0.15521	B	0.041565	0.23935	U	0.178649	0.856145	0.28424	N	-0.16	0.04340	N	.	.	.	.	.	.	.	.	-0.9329	0.43710	T	0.007	0.02518	T	10	0.039373547	0.02422	T	0.001733	0.02908	T	0.074	0.21613	0.364	0.37036	0.0762999501168	0.06990	0.2671236134599523	0.26625	0.00984053840498	0.00893	0.343942165375	0.17026	T	0.010099	0.09146	T	-0.542701	0.00323	T	-0.721137	0.04741	T	0.0343353256395604	0.02694	T	0.50395	0.15873	T	0.064841464	0.13799	0.12162516	0.29344	0.064841464	0.13799	0.12162516	0.29343	-11.658	0.83145	D	.	.	0.096	0.25817	B	.;.;.	.;.;.	0.846251	0.12182	8.729	0.44207718207028368	0.03382	0.52542	0.29156	D	AEFI	0.093949	0.19002	N	-0.654466216543708	0.17330	0.890853	-0.428955381441083	0.24152	1.320969	2.1103849320965E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.38	4.39	0.52211	1.739000	0.37842	1.219000	0.24962	0.676000	0.76740	0.324000	0.25538	0.013000	0.20296	0.229000	0.22707	0.2354:0.0:0.7646:0.0	5.093	0.14054	926	0.17793	Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A;.	.	.	.	.	.	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	40	chr15	86546099	.	G	A	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.367e+00;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-1.437e+00;SOR=0.618	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1083,0,1036	20	0	1	0
chr15	89321792	89321792	C	T	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon16:c.G2542A:p.G848S	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	28541	Progressive_sclerosing_poliodystrophy|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Hereditary_spastic_paraplegia|POLG-Related_Spectrum_Disorders|Mitochondrial_DNA_depletion_syndrome|Inborn_genetic_diseases|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_digenic|Mitochondrial_DNA_depletion_syndrome_1|not_provided|POLG-related_disorder|Mitochondrial_disease	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C4763519|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MeSH:D030342,MedGen:C0950123|MedGen:C1868097|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298|MedGen:C3661900|MedGen:CN180166|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.245	M	-5.3	D	1.065	D	0.979	D	0.987	5.366	34	4.56	1.269	7.417	15.416	0.967	0.5463482847	0.0003	0.000199681	0.0002	0.0002	0.0003	0	0	0.0002	0	0	0.0001746	27	154602	rs113994098	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0001	0.0001	0	0	0	0	0.0004	0.0002	0	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0	0.0005	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	0.047783	1	0.81001	A	3.545	0.93219	H	-5.3	0.98969	D	-5.93	0.89029	D	0.972	0.99670	1.065	0.98463	D	0.979	0.99346	D	9	0.94880635	0.94211	D	0.546348	0.95798	D	0.967	0.99571	.	.	0.984020410405	0.98384	0.9273659732005204	0.92714	0.655678155703	0.58603	0.804255664349	0.82612	D	0.966291	0.99599	D	0.32141	0.84572	D	0.590349	0.96894	D	0.736728595521352	0.42562	D	0.998268	0.99177	D	0.91323406	0.92598	0.7882541	0.87537	0.9256498	0.93804	0.8135046	0.89124	-12.583	0.87574	D	0.7219562996968645	0.80311	0.892	0.82246	P	.;.	.;.	5.218561	0.87585	29.3	0.99866433598043791	0.94457	0.99438	0.96031	D	ALL	0.891302	0.82715	D	0.81051502627148	0.86760	8.989897	0.719217282461928	0.83839	8.128029	0.999999999999994	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.5	4.56	0.55644	7.498000	0.80396	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1402:0.8598:0.0:0.0	15.416	0.74694	946	0.12043	DNA-directed DNA polymerase, family A, palm domain;DNA-directed DNA polymerase, family A, palm domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	33	chr15	89321792	.	C	T	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.48;DP=868;ExcessHet=0.0000;FS=0.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=0.514;SOR=0.787	GT:AD:DP:GQ:PL	0/1:83,77:160:99:2195,0,2259	20	0	1	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	2/2:0,0,49:49:99:.:.:2091,2091,2091,149,149,0	0	0	0	0
chr15	90228609	90228609	G	A	exonic	SEMA4B	.	nonsynonymous SNV	SEMA4B:NM_001324029:exon13:c.G2066A:p.R689H	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	1.000	D	1.04	L	1.44	T	-0.910	T	0.137	T	0.526	4.147	21.4	4.57	2.522	8.796	16.856	0.358	0.0804962751256	.	0.000199681	0.0001	0.0001	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs577641207	4.107e-05	4.104e-05	4.494e-05	3.715e-05	0.0002	3.246e-05	2.921e-05	3.257e-05	2.919e-05	2.987e-05	0	0	0	0	0.0002	4.227e-05	9.94e-05	5.797e-05	1.313e-05	1.312e-05	2.569e-05	0	4.81e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001638	0.38439	N	0.248175	1	0.81001	D	.	.	.	1.44	0.32722	T	-0.99	0.26200	N	0.672	0.68516	-0.9100	0.46854	T	0.137	0.45260	T	10	0.42446452	0.57081	T	0.080496	0.73474	D	0.358	0.67872	.	.	0.385578977469	0.38175	0.44629258000413297	0.44547	0.947910528144	0.72488	0.81492972374	0.84248	D	0.087751	0.38010	T	-0.163271	0.26257	T	-0.235636	0.51223	T	0.386403769254684	0.28427	T	0.956904	0.83579	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.55713	B	.;.	.;.	5.531198	0.91875	32	0.99952405620517437	0.99951	0.97011	0.72175	D	AEFDBCI	.	.	.	0.610533188259147	0.73841	6.032318	0.581333374163708	0.73601	5.997436	0.999999999996112	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.57	4.57	0.55860	8.924000	0.92376	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	16.856	0.85872	576	0.70006	.;.	.	.	.	.	.	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	742.98	36	chr15	90228609	.	G	A	742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.640e-01;DP=834;ExcessHet=0.0000;FS=0.985;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.473e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/1:33,30:63:99:757,0,821	20	0	1	0
chr15	94458164	94458165	AG	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon17:c.1615_1616del:p.R539Nfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.365e-06	1.378e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3952.94	35	chr15	94458163	.	AAG	A	3952.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.212;DP=886;ExcessHet=0.0000;FS=0.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.10;ReadPosRankSum=-1.465e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/1:105,102:207:99:3967,0,4048	20	0	1	0
chr15	101364965	101364965	C	T	exonic	PCSK6	.	stopgain	PCSK6:NM_138325:exon14:c.G1938A:p.W646X,	.	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.149	13.14	-0.457	-0.139	0.018	3.895	.	.	0.0026	0.00179712	0.0033	0.0004	0.0028	0	0.0018	0.0050	0.0027	0.0003	0.0027231	421	154602	rs116852656	0.0032	0.0032	0.0031	0.0032	0.0123	0.0031	0.0030	0.0096	0.0087	0.0008	0.0024	0.0062	0	0.0015	0.0123	0.0043	0.0037	8.66e-05	0.0024	0.0024	0.0028	0.0020	0.0038	0.0022	0.0021	0.0034	0.0033	0.0007	0	0.0022	0.0049	0	0.0012	0.0238	0.0038	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.769529	0.00013	T	-0.878433	0.00667	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340344	0.07138	3.720	0.79142662762001537	0.12609	0.01044	0.03898	N	AEFDBI	0.043833	0.06979	N	-0.778247067312501	0.13878	0.6869589	-0.984358859284902	0.10136	0.5086194	0.987665197278375	0.31316	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.64	-0.457	0.11578	0.355000	0.19902	-0.066000	0.12360	0.450000	0.21304	0.010000	0.18352	0.000000	0.08366	0.099000	0.18236	0.0:0.5098:0.0:0.4902	3.895	0.08638	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1021.98	38	chr15	101364965	.	C	T	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=766;ExcessHet=0.0000;FS=1.925;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-8.650e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1036,0,806	20	0	1	0
chr16	574331	574331	C	T	exonic	PIGQ	.	nonsynonymous SNV	PIGQ:NM_004204:exon2:c.C257T:p.A86V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.919	P	0.306	B	0.008	N	0.976	N	1.245	L	1.95	T	-0.919	T	0.107	T	0.328	2.591	14.62	5.14	2.382	3.835	13.339	0.058	0.0120594829972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	2.736e-06	1.367e-06	1.38e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.53172	D	0.1	0.58613	T	0.51	0.50927	P	0.154	0.41250	B	0.008151	0.30992	N	0.382230	0.976277	0.25384	N	2.015	0.55033	M	0.78	0.50192	T	-2.41	0.55501	N	0.105	0.17553	-0.9190	0.45689	T	0.107	0.38979	T	10	0.21510094	0.38053	T	0.012059	0.30290	T	0.058	0.16647	0.212	0.13066	0.594565568268	0.59134	0.3441018370201927	0.34324	0.144358480749	0.16299	0.427574515343	0.28877	T	0.044814	0.26930	T	-0.0968606	0.36945	T	-0.37691	0.36084	T	0.714948713779449	0.41444	D	0.79912	0.45525	T	0.08666401	0.20152	0.07948324	0.17896	0.08666401	0.20152	0.07948324	0.17895	-5.537	0.42213	T	.	.	0.095	0.21390	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.095474	0.41698	21.4	0.9984853562601238	0.92838	0.96299	0.68462	D	AEFBI	0.602742	0.59449	D	0.194029746411191	0.50913	3.27687	0.267050582930619	0.53624	3.530578	0.998876366733264	0.37868	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	2.579000	0.45725	5.857000	0.50394	0.580000	0.29708	0.049000	0.21372	0.781000	0.26780	0.925000	0.46118	0.0:0.8415:0.1585:0.0	13.339	0.59976	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	1	0	0	0	0	0	0	0.02381	1053.98	59	chr16	574331	.	C	T	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.310e-01;DP=1094;ExcessHet=0.0000;FS=4.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.478;SOR=1.217	GT:AD:DP:GQ:PL	0/1:39,37:76:99:1068,0,1187	20	0	1	0
chr16	634526	634526	C	G	exonic	METTL26	.	stoploss	METTL26:NM_001040165:exon4:c.G558C:p.X186Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	0.788	8.153	-2.77	-0.369	-1.047	1.698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.01	0.00095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.452034	0.01099	T	-0.887092	0.00598	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.618315	0.09867	6.629	0.49233141031618194	0.04175	0.09607	0.15325	N	AEFDGBCI	.	.	.	-0.394772038432792	0.25655	1.394253	-0.814913093345397	0.14135	0.7369656	0.999965605605072	0.48965	0.295142	0.05270	0	0.271743	0.05004	0	0.189914	0.04498	0	0.322829	0.05601	0	0.0762293	0.17635	3.8	-2.77	0.05529	-0.202000	0.09453	-0.053000	0.12521	-0.981000	0.01897	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1231:0.4052:0.2022:0.2695	1.698	0.02694	649	0.63102	.;.	.	.	.	.	.	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	0.02381	1823.98	33	chr16	634526	.	C	G	1823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.580e-01;DP=837;ExcessHet=0.0000;FS=0.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-1.879e+00;SOR=0.777	GT:AD:DP:GQ:PL	0/1:65,81:146:99:1838,0,1467	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,62,0:62:99:.:.:2287,197,0,2287,197,2287	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,62,0:62:99:2287,197,0,2287,197,2287	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	1/1:0,62,0:62:99:2287,197,0,2287,197,2287	8	6	2	4
chr16	1414642	1414642	G	C	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001037125:exon1:c.C50G:p.P17R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.742	P	0.238	B	0.000	U	1.000	D	1.245	L	-0.06	T	-0.879	T	0.136	T	0.191	0.637	7.423	1.41	1.284	4.043	6.365	0.114	0.801690134311	.	.	7.961e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs779058744	0.0001	0.0001	9.557e-05	0.0001	0.0001	9.168e-05	8.546e-05	0.0001	9.376e-05	0	0	0.0002	0	0	0	0.0001	6.009e-05	2.792e-05	0.0001	0.0001	7.907e-05	0.0001	0.0001	6.181e-05	5.018e-05	7.067e-05	5.205e-05	4.876e-05	0	6.713e-05	0.0009	0	0	0	0.0001	0	0	0.006	0.65419	D	0.008	0.67890	D	0.742	0.43019	P	0.238	0.38539	B	0.000015	0.62929	U	0.000000	0.94394	0.37429	D	1.525	0.38595	L	-0.06	0.63568	T	-1.87	0.43717	N	0.478	0.53357	-0.8791	0.49833	T	0.136	0.45126	T	10	0.2967814	0.47241	T	0.80169	0.98449	D	0.114	0.32008	0.186	0.09517	0.380223377699	0.37629	0.6158816437977065	0.61520	1.3006740423	0.83010	0.847922384739	0.89300	D	0.022166	0.17138	T	-0.231594	0.16438	T	-0.375474	0.36250	T	0.180611970692741	0.19273	T	0.575442	0.20674	T	.	.	.	.	.	.	.	.	-7.057	0.54449	T	.	.	0.408	0.60025	A	.;.;.	.;.;.	4.155773	0.62368	24.4	0.95763759658754533	0.27757	0.86577	0.45886	D	ALL	0.345860	0.44087	N	-0.0789195486139448	0.38318	2.242404	-0.0947121966396071	0.35609	2.062138	0.999999982735994	0.74766	0.685219	0.55550	0	0.218748	0.04544	0	0.674405	0.61402	0	0.249971	0.05119	0	.	.	2.41	1.41	0.21461	4.115000	0.57608	4.355000	0.43100	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	0.1716:0.0:0.8284:0.0	6.365	0.20652	759	0.50631	.;.;.	.	.	.	.	.	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	464.98	35	chr16	1414642	.	G	C	464.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.109e+00;DP=763;ExcessHet=0.0000;FS=1.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.569e+00;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,23:33:99:0|1:1414635_A_C:479,0,196:1414635	20	0	1	0
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:6,7,0,0:13:99:270,0,224,288,246,534,288,246,534,534	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:6,7,0,0:13:99:270,0,224,288,246,534,288,246,534,534	12	1	6	0
chr16	1526773	1526773	G	A	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon20:c.C2423T:p.A808V,	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	340663	Saldino-Mainzer_syndrome|Retinitis_pigmentosa_80|Inborn_genetic_diseases	MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|MONDO:MONDO:0054708,MedGen:C4540439,OMIM:617781|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.000	D	1.000	D	3.295	M	0.43	T	0.074	D	0.441	T	0.96	5.650	36	5.23	2.459	9.781	16.972	0.677	0.0812855212867	.	.	1.097e-05	0	0	0	0	1.951e-05	0	0	1.29e-05	2	154602	rs748463111	1.989e-05	2.257e-05	2.456e-05	1.517e-05	4.5e-05	1.396e-05	1.207e-05	1.461e-05	1.228e-05	0	4.5e-05	0	2.525e-05	0	0	2.16e-05	0	2.337e-05	1.971e-05	1.97e-05	2.568e-05	1.345e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.939e-05	0	0	0.003	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.695	0.94570	H	0.43	0.56772	T	-3.97	0.73684	D	0.963	0.97961	0.074	0.83691	D	0.441	0.77928	T	10	0.86759317	0.86009	D	0.081286	0.73650	D	0.677	0.88109	0.505	0.59924	0.908115824376	0.90720	0.796690024452675	0.79622	0.403020458335	0.41251	0.761928498745	0.76216	T	0.403283	0.76008	T	0.361834	0.87395	D	0.281973	0.87231	D	0.990533828735352	0.80756	D	0.952105	0.84340	D	0.77181286	0.82157	0.67239964	0.80773	0.77181286	0.82159	0.67239964	0.80774	-9.617	0.71585	D	0.7429413272088492	0.82503	0.807	0.82201	P	.;.	.;.	5.823751	0.93710	33	0.99940870300669205	0.99797	0.99026	0.90144	D	AEFDBI	0.906724	0.85985	D	0.999058538062853	0.95715	13.89155	0.929388847851298	0.96731	15.07002	0.999999999999153	0.74766	0.653281	0.48532	0	0.633656	0.55848	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	5.23	5.23	0.72570	9.914000	0.98694	11.647000	0.93845	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	16.972	0.86174	825	0.40060	.;.	.	.	.	.	.	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	803.98	36	chr16	1526773	.	G	A	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.150;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=0.417;SOR=0.693	GT:AD:DP:GQ:PL	0/1:35,35:70:99:818,0,788	20	0	1	0
chr16	1999881	1999881	G	0	exonic	ZNF598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12579.4	40	chr16	1999881	.	G	GTCC,*	12579.4	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.849;DP=1110;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.7375;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=32.09;ReadPosRankSum=0.776;SOR=0.718	GT:AD:DP:GQ:PL	0/1:21,23,0:44:99:883,0,797,946,866,1812	15	3	2	0
chr16	2114921	2114921	G	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon11:c.C2102A:p.T701N	Polycystic kidney disease, adult type I, Autosomal dominant	YES	215	1282	23	2	0	27	0.0104207	.	.	919631	not_provided|Polycystic_kidney_disease,_adult_type|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.763	P	0.219	B	0.193	N	1.000	N	1.87	L	1.31	T	-1.051	T	0.078	T	0.076	0.319	5.729	3.09	1.181	1.806	9.643	0.052	0.119057797368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0055	0.0010	0.0014	0.0042	0.0012	0.0011	0.0036	0.0034	0.0002	0.0042	0.0022	0.0015	0.0007	0.0015	0.0010	0.0011	0.0035	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.095	0.31235	T	0.107	0.37730	T	0.514	0.43659	P	0.115	0.37734	B	0.192933	0.16798	N	0.604873	1	0.08975	N	2.35	0.67516	M	1.31	0.35405	T	-1.53	0.37178	N	0.226	0.32701	-1.0514	0.14009	T	0.078	0.31103	T	10	0.19567388	0.35429	T	0.119058	0.79926	D	0.052	0.14661	.	.	0.550246613503	0.54680	0.27213226263356766	0.27126	.	.	0.399860799313	0.25050	T	0.286815	0.65960	T	-0.263983	0.12437	T	-0.61697	0.11424	T	0.150881667384249	0.17173	T	0.688631	0.29780	T	0.065850526	0.14113	0.08088498	0.18334	0.065850526	0.14112	0.08088498	0.18334	-5.674	0.43461	T	0.33790161931626944	0.43577	0.105	0.19398	B	.;.	.;.	1.961136	0.24913	16.57	0.50966857304146163	0.04478	0.25707	0.22779	N	AEFBI	0.148006	0.27180	N	-0.571601178771383	0.19811	1.040	-0.661019807721852	0.17938	0.9561094	0.0203117780971335	0.13246	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.21	3.09	0.34677	1.444000	0.34679	6.196000	0.54830	-0.209000	0.08382	0.003000	0.16062	1.000000	0.68203	0.000000	0.00833	0.1485:0.13:0.7214:0.0	9.643	0.39015	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	77.9	36	chr16	2114921	.	G	T	77.9	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.320e+00;DP=755;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0481;MLEAC=1;MLEAF=0.024;MQ=41.59;MQRankSum=-1.677e+00;QD=0.59;ReadPosRankSum=0.450;SOR=0.593	GT:AD:DP:GQ:PL	0/1:43,10:53:88:88,0,1072	19	0	2	0
chr16	2210199	2210199	C	T	exonic	BRICD5	.	nonsynonymous SNV	BRICD5:NM_182563:exon3:c.G263A:p.R88Q,	.	.	417	1102	3	0	0	3	0.00135931	.	.	2432102	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.84	T	0.014	B	0.008	B	0.704	N	1.000	N	0.235	N	1.79	T	-0.934	T	0.029	T	0.122	0.315	5.707	-10.5	-2.762	-2.352	17.130	0.061	0.0112936080977	0.0002	0.000199681	0.0003	0	0	0.0002	0	0.0004	0	0.0005	0.0001811	28	154602	rs145075016	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	3.004e-05	0	0	5.122e-05	2.124e-05	0.0007	0.0002	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0006	8.162e-05	6.719e-05	0.0002	8.996e-05	4.81e-05	0	0	0	0.0002	0	0	0.0002	0	0.0006	0.554	0.09776	T	0.356	0.18903	T	0.014	0.16867	B	0.008	0.13708	B	0.703577	0.06217	N	1.148330	0.99999	0.08975	N	0.295	0.10161	N	1.79	0.36512	T	-0.82	0.22508	N	0.156	0.16168	-0.9339	0.43560	T	0.029	0.12365	T	10	0.011246651	0.00247	T	0.011294	0.28764	T	0.061	0.17616	.	.	0.162503812791	0.15892	0.27715231422371867	0.27628	0.00235242544378	0.00204	0.178914874792	0.00084	T	0.012411	0.10917	T	-0.520318	0.00438	T	-0.682048	0.06859	T	0.0129329883590426	0.00223	T	0.577942	0.21195	T	0.022484748	0.00914	0.037622582	0.03453	0.022484748	0.00914	0.037622582	0.03453	-3.447	0.15987	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	-1.084230	0.00660	0.018	0.85802293258223405	0.16121	0.02141	0.06307	N	AEFBHCI	0.066205	0.12953	N	-2.20679838131413	0.00074	0.003169113	-2.28537038370099	0.00072	0.003145182	0.999999999993484	0.74766	0.634777	0.41761	0	0.552637	0.17590	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.25	-10.5	0.00234	-1.569000	0.02246	-5.311000	0.01766	-2.886000	0.00165	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.27:0.0:0.73	17.130	0.86602	624	0.65661	.;.;.	.	.	.	.	.	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	1224.98	34	chr16	2210199	.	C	T	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=820;ExcessHet=0.0000;FS=2.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=2.37;SOR=0.498	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1239,0,1362	20	0	1	0
chr16	2940061	2940061	A	T	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon9:c.A2080T:p.T694S	.	.	437	1059	26	0	0	26	0.0121269	.	.	726563	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.76	T	0.466	P	0.044	B	.	.	1.000	N	0.55	N	.	.	-1.016	T	0.028	T	0.126	-0.362	2.295	-0.71	-0.270	0.143	3.393	0.028	.	0.0012	0.00838658	0.0093	0.0004	0.0025	0.0001	0	0.0028	0.0170	0.0508	0.0061513	951	154602	rs200567618	0.0039	0.0039	0.0026	0.0052	0.0410	0.0038	0.0038	0.0398	0.0394	0.0003	0.0013	0.0185	0.0001	1.876e-05	0.0151	0.0010	0.0055	0.0410	0.0028	0.0028	0.0021	0.0034	0.0404	0.0026	0.0025	0.0358	0.0340	0.0002	0	0.0016	0.0239	0.0002	0	0.0102	0.0014	0.0057	0.0404	0.084	0.32929	T	0.319	0.19246	T	0.105	0.36465	B	0.011	0.24394	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	.	.	.	-0.92	0.24676	N	0.186	0.21188	-1.0157	0.25110	T	0.028	0.11838	T	8	0.0030860603	0.00051	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.06949796289218495	0.06887	.	.	0.444318264723	0.31167	T	0.01465	0.12435	T	-0.594237	0.00158	T	-0.59637	0.13119	T	0.00309757687817122	0.00032	T	0.451355	0.12777	T	0.032496184	0.03285	0.030530464	0.01519	0.032496184	0.03284	0.030530464	0.01519	-3.083	0.11193	T	.	.	0.118	0.24226	B	.;.	.;.	-0.105926	0.03606	0.708	0.63187656537207515	0.07157	0.01263	0.04429	N	AEFBHCI	0.065080	0.12672	N	-1.28060460151924	0.03909	0.1754922	-1.39347297607137	0.03321	0.1546841	9.79584783668024E-6	0.01202	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	0.785	-0.71	0.10668	-0.189000	0.09625	1.438000	0.26503	-0.496000	0.05032	0.002000	0.15269	0.588000	0.25656	0.002000	0.04165	0.563:0.437:0.0:0.0	3.393	0.06870	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	754.98	33	chr16	2940061	.	A	T	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.700e-02;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.803;SOR=0.702	GT:AD:DP:GQ:PL	0/1:39,33:72:99:769,0,950	20	0	1	0
chr16	3067435	3067435	C	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001308078:exon3:c.C74G:p.S25C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	B	0.047	B	.	.	1.000	N	.	.	0.54	T	-1.041	T	0.080	T	0.445	1.159	9.718	-3.28	-2.069	-2.144	5.343	0.058	0.00268015823569	0.0005	0.000199681	0.0004	9.654e-05	0	0	0.0002	0.0007	0	0	0.0003752	58	154602	rs201900317	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0006	0.0008	0.0008	0.0001	0.0002	0	2.527e-05	5.637e-05	0.0002	0.0009	0.0004	1.169e-05	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0002	0	0.0001	0	0	9.42e-05	0	0.0010	0	0	0.0	0.91255	D	0.0	0.92824	D	0.033	0.20350	B	0.047	0.24832	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.54	0.54911	T	-0.06	0.08033	N	0.095	0.09349	-1.0409	0.17041	T	0.080	0.31765	T	7	0.014362544	0.00302	T	0.00268	0.05492	T	0.058	0.16647	.	.	0.281381271821	0.27740	0.004942851170949683	0.00466	.	.	.	.	.	0.004895	0.09781	T	-0.386214	0.02845	T	-0.405534	0.32742	T	0.0106838204608617	0.00150	T	0.40156	0.10241	T	0.054701168	0.10529	0.059387535	0.11135	0.054701168	0.10529	0.059387535	0.11135	-4.216	0.26983	T	.	.	0.202	0.47250	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.626446	0.01501	0.095	0.93963226843608394	0.24033	0.00153	0.00922	N	AEFBI	.	.	.	-1.64127298067194	0.01072	0.0465379	-1.80232362689546	0.00752	0.03351236	0.999993568902682	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	1.64	-3.28	0.04721	-2.287000	0.01232	.	.	-0.967000	0.01957	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2341:0.3414:0.4245:0.0	5.343	0.15301	749	0.51929	.;.;.;.;.;.	.	.	.	.	.	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	621.98	36	chr16	3067435	.	C	G	621.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.930e+00;DP=813;ExcessHet=0.0000;FS=0.971;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.181;SOR=0.656	GT:AD:DP:GQ:PL	0/1:32,29:61:99:636,0,859	20	0	1	0
chr16	11478625	11478625	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon17:c.G2269A:p.G757R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.052e-06	7.952e-06	0	7.995e-06	6.326e-06	0	0	.	.	0	0	0	0	0	0	6.326e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39309618	0.55033	T	.	.	.	.	.	.	.	0.75392318773	0.75169	.	.	.	.	.	.	.	.	.	.	0.00872055	0.52851	T	-0.22525	0.52230	T	.	.	.	0.639136	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.70349	P	.	.	2.304677	0.29492	18.14	0.84664128562555452	0.15424	0.84598	0.43681	D	AEFDBI	0.177915	0.30517	N	.	.	.	.	.	.	0.696871799438798	0.22651	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.19	3.22	0.36041	2.849000	0.47985	2.144000	0.30864	0.599000	0.40250	0.999000	0.42656	0.854000	0.27420	0.016000	0.10718	0.0:0.7967:0.2033:0.0	10.119	0.41781	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	976.98	44	chr16	11478625	.	C	T	976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.719;DP=846;ExcessHet=0.0000;FS=8.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-2.190e+00;SOR=1.392	GT:AD:DP:GQ:PL	0/1:47,40:87:99:991,0,1173	20	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,243,0:243:99:.:.:7266,728,0,7266,728,7266	2	11	4	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	0/1:97,88:185:99:464,0,1293	1	0	20	0
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	0/1:8,9,0:17:99:.:.:173,0,164,197,191,388	8	2	7	3
chr16	15715019	15715019	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon40:c.G5676C:p.E1892D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	0	1497	25	0	0	25	0.00828089	.	.	142061	Aortic_aneurysm,_familial_thoracic_4|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|not_specified	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.884	P	0.766	P	0.000	D	1.000	D	3.18	M	-1.21	T	0.037	D	0.494	T	0.479	3.803	19.31	1.09	0.401	2.567	9.194	0.562	.	0.0052	0.00339457	0.0051	0.0013	0.0079	0	0.0062	0.0065	0.0055	0.0025	0.0051681	799	154602	rs113964173	0.0057	0.0057	0.0057	0.0057	0.0163	0.0056	0.0055	0.0136	0.0126	0.0021	0.0069	0.0054	2.519e-05	0.0059	0.0163	0.0061	0.0068	0.0027	0.0050	0.0050	0.0051	0.0049	0.0079	0.0047	0.0046	0.0068	0.0063	0.0024	0.0011	0.0079	0.0061	0.0002	0.0061	0.0306	0.0061	0.0090	0.0017	0.002	0.72154	D	0.035	0.52389	D	0.884	0.48618	P	0.766	0.56676	P	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.245	0.89746	M	-1.21	0.78645	T	-2.65	0.57110	D	0.656	0.67564	0.037	0.82994	D	0.494	0.80811	T	10	0.013423175	0.00285	T	.	.	.	0.562	0.82061	0.385	0.40460	0.836330520374	0.83477	0.3254021080093631	0.32453	0.679322545901	0.59932	0.713986098766	0.69171	T	0.700237	0.91362	D	-0.229723	0.16685	T	-0.0970664	0.63625	T	0.0381361471002338	0.03355	T	0.948505	0.80194	D	0.6787482	0.76902	0.6146772	0.77573	0.69713414	0.77901	0.551593	0.74072	-7.906	0.60428	D	.	.	0.372	0.62152	A	.;.;.;.	.;.;.;.	3.755913	0.53860	23.4	0.99839129645069391	0.91972	0.91549	0.53762	D	AEFDBCI	0.719763	0.67054	D	0.380813121273696	0.60382	4.226598	0.274670842489353	0.54065	3.572653	0.280145057627384	0.18980	0.700653	0.57754	0	0.572659	0.20510	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.76	1.09	0.19517	2.622000	0.46092	0.203000	0.15874	0.587000	0.30956	1.000000	0.71638	0.970000	0.29701	0.995000	0.73285	0.0:0.6481:0.0:0.3519	9.194	0.36379	308	0.87611	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	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	0.04762	3905.11	33	chr16	15715019	.	C	G	3905.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.010e-01;DP=989;ExcessHet=0.1072;FS=0.404;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=1.99;SOR=0.744	GT:AD:DP:GQ:PL	0/1:84,74:158:99:1715,0,2062	19	0	2	0
chr16	16265111	16265111	G	A	exonic	NOMO2;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon15:c.G1738A:p.V580M	.	.	590	931	1	0	0	1	0.000536769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.976	D	0.681	P	0.001	N	1.000	D	1.32	L	3.6	T	-1.020	T	0.021	T	0.313	1.795	11.96	4.18	1.916	8.053	10.291	0.143	0.025518822537	0.0027	.	0.0022	0.0030	0.0001	0.0002	0	0.0026	0.0015	0.0032	0.0003074	8	26028	rs201651768	0.0022	0.0027	0.0022	0.0022	0.0066	0.0022	0.0021	0.0058	0.0055	0.0066	0.0007	0.0289	0.0007	0.0006	0.0012	0.0015	0.0042	0.0026	0.0037	0.0088	0.0038	0.0036	0.0082	0.0034	0.0033	0.0073	0.0070	0.0082	0	0.0024	0.0281	0.0007	0.0009	0	0.0015	0.0037	0.0041	0.163	0.24661	T	0.319	0.20551	T	0.863	0.47474	P	0.308	0.41327	B	0.001006	0.40652	N	0.208583	0.999974	0.53665	D	1.74	0.45129	L	3.58	0.04645	T	-1.23	0.31170	N	0.548	0.58202	-1.0196	0.23845	T	0.021	0.08824	T	10	0.0061551034	0.00139	T	0.025519	0.48485	D	0.143	0.38195	.	.	0.178374595973	0.17440	0.2960052322219181	0.29513	.	.	0.505358934402	0.39575	T	0.009962	0.20707	T	-0.461543	0.00962	T	-0.430624	0.29864	T	0.0725244822772686	0.09001	T	0.842416	0.51891	T	0.056254838	0.11043	0.0566962	0.10176	0.056254838	0.11043	0.0566962	0.10175	-9.581	0.71362	D	.	.	0.108	0.21239	B	.;.	.;.	3.744448	0.53636	23.4	0.99491236919726156	0.67460	0.98605	0.84611	D	AEFI	0.753155	0.69343	D	0.217833299598241	0.52063	3.383011	0.184078829841463	0.48974	3.106399	0.15884247024916	0.17560	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.18	4.18	0.48473	8.182000	0.89644	9.808000	0.81731	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.278000	0.23967	0.0921:0.0:0.9079:0.0	10.291	0.42780	884	0.28482	.;.	.	.	.	.	.	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	1477.98	36	chr16	16265111	.	G	A	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=813;ExcessHet=0.0000;FS=10.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=37.35;MQRankSum=-2.225e+00;QD=10.95;ReadPosRankSum=0.468;SOR=1.599	GT:AD:DP:GQ:PL	0/1:76,59:135:99:1492,0,1806	20	0	1	0
chr16	21204076	21204076	G	T	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376231:exon9:c.C926A:p.T309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.962	D	0.61	P	0.747	N	1.000	N	1.345	L	-0.95	T	-0.842	T	0.260	T	0.345	-0.179	3.128	1.49	0.363	-0.241	2.812	0.173	0.0404031584631	.	.	8.243e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs774204764	3.42e-06	3.42e-06	1.361e-06	5.501e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.06	0.23119	B	0.05	0.25278	B	0.747431	0.09727	N	0.886341	1	0.08975	N	2.175	0.60977	M	0.23	0.75438	T	.	.	.	0.229	0.25745	-0.8418	0.52527	T	0.260	0.63121	T	10	0.17538098	0.32466	T	0.040403	0.59359	D	.	.	0.435	0.48664	0.806461069714	0.80464	0.5167527663873727	0.51598	0.117469394865	0.13232	0.263016372919	0.05255	T	0.077442	0.35654	T	-0.135285	0.30645	T	-0.33525	0.40882	T	0.995132148265839	0.86890	D	.	.	.	0.0571344	0.11334	0.06630848	0.13565	0.0571344	0.11333	0.06630848	0.13564	-3.402	0.15083	T	.	.	0.082	0.14979	B	.;.	.;.	0.419389	0.07901	4.605	0.6398981680008955	0.07371	0.06818	0.12842	N	AEFGBI	0.104885	0.20974	N	-0.813724523746723	0.12959	0.6351653	-0.862916914698324	0.12977	0.6706717	0.00151577469344647	0.08604	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.97	1.49	0.21966	-0.052000	0.11821	1.709000	0.28183	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.082000	0.17360	0.1501:0.188:0.4694:0.1925	2.812	0.05111	658	0.62094	.;.	.	.	.	.	.	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	1403.98	33	chr16	21204076	.	G	T	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.850e-01;DP=809;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.18;SOR=0.529	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1418,0,1445	20	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	380.23	3	chr16	21404235	.	GC	G	380.23	.	AC=6;AF=1.00;AN=6;DP=44;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3927;MLEAC=16;MLEAF=1.00;MQ=25.55;QD=32.05;SOR=3.056	GT:AD:DP:GQ:PL	1/1:0,4:4:12:150,12,0	0	3	0	18
chr16	21847508	21847508	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon2:c.G154A:p.G52R	.	.	462	1046	10	4	0	18	0.00853081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.982	D	0.895	P	.	.	.	.	.	.	0.67	T	-0.488	T	0.230	T	0.39	1.614	11.35	0.589	0.604	1.069	.	0.106	.	.	0.00199681	0.0013	0	0.0002	0	0	0.0002	0	0.0074	9.06e-05	14	154602	rs550529229	0.0005	0.0005	0.0003	0.0006	0.0063	0.0004	0.0004	0.0052	0.0051	0.0002	0.0002	0	5.167e-05	0	0.0063	9.952e-05	0.0008	0.0056	0.0003	0.0003	0.0002	0.0004	0.0063	0.0002	0.0002	0.0044	0.0038	5.058e-05	0	6.82e-05	0	0	0	0.0035	0.0001	0.0015	0.0063	0.007	0.59928	D	0.007	0.69154	D	0.982	0.60036	D	0.869	0.61749	P	.	.	.	.	.	.	.	.	.	.	0.67	0.52187	T	-3.06	0.73151	D	0.321	0.36148	-0.4881	0.69076	T	0.230	0.59521	T	6	0.015515119	0.00326	T	.	.	.	0.106	0.30130	0.764	0.89213	0.503063991398	0.49945	0.021037568676493146	0.02056	.	.	.	.	.	0.040565	0.25569	T	-0.438541	0.01319	T	-0.400653	0.33309	T	0.0798934883505411	0.09973	T	0.916008	0.75104	D	0.27964434	0.51014	0.25319785	0.50963	0.27964434	0.51014	0.25319785	0.50962	-3.027	0.10475	T	.	.	0.611	0.69350	P	.;.;.;.;.	.;.;.;.;.	1.556691	0.19942	14.51	0.99308894328036812	0.58906	0.01067	0.03955	N	AEFI	0.058646	0.11018	N	-0.445841410765125	0.23881	1.285591	-0.743487178239947	0.15883	0.8375237	1.43167424178355E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.589	0.589	0.16636	0.164000	0.16359	0.487000	0.18863	-0.835000	0.02838	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	603	0.67726	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1549.98	37	chr16	21847508	.	C	T	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=1233;ExcessHet=0.0000;FS=5.917;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.38;MQRankSum=-5.194e+00;QD=7.45;ReadPosRankSum=2.21;SOR=0.978	GT:AD:DP:GQ:PL	0/1:126,82:208:99:1564,0,2636	20	0	1	0
chr16	23102333	23102333	A	G	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon6:c.T1220C:p.I407T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.997	D	0.932	D	.	.	1.000	D	1.075	L	2.99	T	-1.115	T	0.049	T	0.705	3.474	17.78	5.54	2.108	8.926	14.878	0.237	0.0256117430824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.18	0.29442	T	0.997	0.70673	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	1.67	0.42885	L	2.99	0.09262	T	0.51	0.02898	N	0.843	0.83885	-1.1154	0.02644	T	0.049	0.20868	T	9	0.7785554	0.77661	D	0.025612	0.48570	D	0.237	0.54074	0.546	0.66015	0.724231701982	0.72178	0.5290314476169267	0.52827	0.946334139909	0.72422	0.814740777016	0.84220	D	0.004558	0.03968	T	0.00952393	0.52960	T	-0.224096	0.52342	T	0.77726674079895	0.44880	D	0.809419	0.45992	T	0.14993371	0.34157	0.27048472	0.52940	0.14993371	0.34157	0.27048472	0.52939	-2.252	0.04300	T	.	.	0.936	0.85539	P	.	.	4.681449	0.74923	26.2	0.99688086119308827	0.79708	0.99133	0.91711	D	AEFBI	0.891293	0.82713	D	0.624988359746946	0.74757	6.187558	0.664192848206461	0.79670	7.132084	0.999999992010536	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.911000	0.92272	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.878	0.70147	388	0.83355	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|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	0	0	0	0	0.02381	97.18	34	chr16	23102333	.	A	G	97.18	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.722e+00;DP=939;ExcessHet=0.0000;FS=110.347;InbreedingCoeff=-0.0365;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.359;SOR=6.399	GT:AD:DP:GQ:PL	0/1:67,19:86:99:111,0,1153	20	0	1	0
chr16	29382999	29382999	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1933G:p.P645A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0.55	N	1.72	T	-1.009	T	0.043	T	0.109	0.946	8.859	.	.	-1.905	.	0.031	0.0211419618282	.	.	8.583e-06	0	0	0	0	1.566e-05	0	0	3.84e-05	1	26028	rs756879841	1.028e-05	1.026e-05	1.227e-05	8.265e-06	1.349e-05	6.17e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	2.066e-05	9.886e-05	1.341e-05	2.833e-05	1.516e-05	5.49e-06	2.52e-06	.	.	0	0	0	0.0006	0	0	0	1.516e-05	0	0	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.72	0.26588	T	-0.91	0.24460	N	0.091	0.06990	-1.0086	0.27354	T	0.043	0.18326	T	4	0.087445915	0.14963	T	0.021142	0.43862	T	0.031	0.07369	0.338	0.32816	0.139678290688	0.13603	0.0010482649143814852	0.00096	.	.	.	.	.	0.011047	0.09905	T	-0.251301	0.13939	T	-0.598753	0.12915	T	0.0998966606523281	0.12346	T	0.514049	0.16524	T	0.08446088	0.19549	0.13631544	0.32614	0.08446088	0.19549	0.13631544	0.32613	-10.044	0.74175	D	.	.	0.551	0.66812	A	.	.	0.947988	0.13241	9.741	0.91839566063827771	0.21150	0.00090	0.00598	N	AEFDIJ	0.023317	0.01283	N	-0.570147359918371	0.19857	1.042493	-0.707427910388993	0.16775	0.8890332	1.09648973830877E-6	0.01202	0.722319	0.85440	0	0.698795	0.70079	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	0.189000	0.16845	-1.114000	0.06289	0.190000	0.17853	0.025000	0.20085	0.000000	0.08366	0.026000	0.12556	.	.	.	774	0.48577	.	.	.	.	.	.	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	3092.98	42	chr16	29382999	.	G	C	3092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.610e-01;DP=1006;ExcessHet=0.0000;FS=7.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.91;MQRankSum=-7.856e+00;QD=13.81;ReadPosRankSum=-1.816e+00;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,86:224:99:0|1:29382999_G_C:3107,0,5516:29382999	20	0	1	0
chr16	29383022	29383022	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1910C:p.R637P,	.	.	537	983	2	0	0	2	0.00101626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	.	.	.	.	.	.	1.000	N	0.55	N	2.41	T	-0.972	T	0.025	T	0.1	-0.677	1.045	.	0.073	0.064	.	0.007	0.00137807169732	.	0.00159744	0.0008	0.0003	0.0007	0.0024	0	0.0009	0	0.0002	0.0006662	103	154602	rs573087265	6.601e-05	7.329e-05	4.784e-05	8.439e-05	0.0002	5.523e-05	5.133e-05	0.0001	8.802e-05	2.997e-05	2.242e-05	0	0.0002	0	0	6.487e-05	0.0002	2.401e-05	0.0003	0.0008	0.0003	0.0003	0.0029	0.0002	0.0002	0.0017	0.0013	0.0003	0	0.0003	0	0.0029	0	0	0.0002	0	0.0002	0.291	0.14945	T	0.321	0.19073	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	1.04	0.26193	L	2.41	0.15492	T	0.71	0.02130	N	0.141	0.14054	-0.9718	0.36819	T	0.025	0.10777	T	5	0.008448452	0.00192	T	0.001378	0.02011	T	0.007	0.00512	0.35	0.34760	0.170165803431	0.16609	0.038846008794788535	0.03830	.	.	.	.	.	0.004596	0.03998	T	-0.486403	0.00680	T	-0.753693	0.03344	T	0.0267502387412079	0.01509	T	0.393061	0.09795	T	0.17190467	0.37851	0.22630191	0.47603	0.17190467	0.37851	0.22630191	0.47602	0.947	0.00139	T	.	.	0.340	0.55903	B	.	.	0.928524	0.13039	9.541	0.49463438770195678	0.04214	0.00214	0.01215	N	AEFDI	0.078068	0.15743	N	-0.918703182555413	0.10404	0.4970577	-1.11952203456524	0.07328	0.3559979	7.73979907486865E-6	0.01202	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.993000	0.04377	-2.014000	0.00440	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	774	0.48577	.	.	.	.	.	.	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	3976.98	42	chr16	29383022	.	C	G	3976.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.213;DP=1054;ExcessHet=0.0000;FS=4.133;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.41;MQRankSum=-6.829e+00;QD=14.62;ReadPosRankSum=2.26;SOR=0.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,109:272:99:0|1:29382999_G_C:3991,0,6437:29382999	20	0	1	0
chr16	29383028	29383028	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1904C:p.R635P,	.	.	530	989	1	0	2	3	0.000505306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.17	T	-1.003	T	0.014	T	0.061	-0.582	1.386	.	-2.328	-2.162	.	0.043	0.00341195000851	.	.	0.0007	0.0003	0.0010	0.0007	0	0.0009	0	0.0004	0.0003074	8	26028	rs138595165	7.048e-05	9.046e-05	6.051e-05	8.056e-05	0.0003	5.906e-05	5.512e-05	0.0002	0.0001	6.335e-05	4.651e-05	0	0.0003	0	0	6.943e-05	0.0001	4.691e-05	0.0004	0.0022	0.0004	0.0005	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0008	0.0003	0.0008	0	0	0.0002	0	0	0.221	0.18889	T	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	-0.895	0.01383	N	2.17	0.19020	T	-0.53	0.16393	N	0.129	0.12341	-1.0028	0.29109	T	0.014	0.05369	T	5	0.027951658	0.00933	T	0.003412	0.07664	T	0.043	0.11576	0.472	0.54699	0.0954503805726	0.09146	0.0029045590469320435	0.00270	.	.	.	.	.	0.007658	0.07052	T	-0.718026	0.00028	T	-0.799044	0.01926	T	0.0207641019378915	0.00776	T	0.393061	0.09795	T	0.095700435	0.22528	0.14224006	0.33846	0.095700435	0.22527	0.14224006	0.33845	2.451	0.00034	T	.	.	0.224	0.45569	B	.	.	-0.346083	0.02421	0.273	0.55329711324615405	0.05320	0.00017	0.00201	N	AEFDI	0.014128	0.00213	N	-1.80391883393766	0.00535	0.02306132	-1.94951420007606	0.00390	0.01722129	3.22638092691484E-4	0.06540	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.212000	0.06011	-2.014000	0.00440	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	774	0.48577	.	.	.	.	.	.	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	4131.98	42	chr16	29383028	.	C	G	4131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=1071;ExcessHet=0.0000;FS=4.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.77;MQRankSum=-6.640e+00;QD=14.55;ReadPosRankSum=2.67;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,116:284:99:0|1:29382999_G_C:4146,0,6553:29382999	20	0	1	0
chr16	29383627	29383627	A	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2296.18	77	chr16	29383627	.	A	G,*	2296.18	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=2.03;DP=1184;ExcessHet=0.0208;FS=58.039;InbreedingCoeff=0.4285;MLEAC=11,1;MLEAF=0.275,0.025;MQ=35.46;MQRankSum=-8.430e-01;QD=5.36;ReadPosRankSum=-3.321e+00;SOR=3.437	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,25,0:28:25:.:.:815,25,0,823,75,874	11	3	5	1
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|1:62,22,5:89:99:1|0:29485610_ACACACTC_A:623,0,2327,423,1576,1954:29485610	7	0	12	0
chr16	30225638	30225638	C	G	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.G808C:p.V270L	.	.	1091	421	5	4	1	14	0.0152047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.007	B	.	.	.	.	.	.	1.31	T	-0.974	T	0.035	T	0.139	-0.776	0.742	.	.	.	.	0.061	0.0869475607694	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202025137	0.0015	0.0037	0.0016	0.0014	0.0072	0.0013	0.0012	0.0050	0.0043	0.0047	0.0072	0.0003	0.0003	0.0002	0.0021	0.0014	0.0022	0.0010	0	0.0003	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.884	0.13403	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	.	.	.	.	.	.	1.31	0.35405	T	1.14	0.01166	N	0.103	0.08646	-0.9744	0.36257	T	0.035	0.15291	T	4	0.0025018156	0.00038	T	0.086948	0.74839	D	0.061	0.17616	0.426	0.47185	.	.	0.005461785062630527	0.00516	.	.	.	.	.	0.002966	0.02360	T	-0.295652	0.09077	T	-0.66246	0.08101	T	0.00112701050323918	0.00011	T	0.476552	0.14308	T	0.095700875	0.22528	0.09085976	0.21331	0.095700875	0.22527	0.09085976	0.21330	1.963	0.00053	T	.	.	0.142	0.31228	B	.;.	.;.	-0.811828	0.01084	0.048	0.62845941236739977	0.07068	0.00123	0.00769	N	AEFI	0.047204	0.07923	N	-0.701241767677131	0.15986	0.8105718	-0.708268021337421	0.16755	0.8878261	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-1.913000	0.01672	-1.731000	0.04830	-1.668000	0.00804	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	263	0.89692	.;.	.	.	.	.	.	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	107.49	239	chr16	30225638	.	C	G	107.49	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.282e+00;DP=239;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.1759;MLEAC=2;MLEAF=0.083;MQ=29.26;MQRankSum=0.00;QD=21.50;ReadPosRankSum=-1.282e+00;SOR=1.981	GT:AD:DP:GQ:PL	0/1:1,4:5:15:116,0,15	11	0	1	9
chr16	53695312	53695312	C	G	exonic	RPGRIP1L	.	stoploss	RPGRIP1L:NM_001328422:exon4:c.G377C:p.X126S,	COACH syndrome, Autosomal recessive;Joubert syndrome 7, Autosomal recessive;Meckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472044997	9.225e-06	7.952e-06	8.047e-06	1.022e-05	0.0002	2.7e-06	1.96e-06	2.54e-06	7e-07	0	0	0	0	0	0.0002	9.53e-06	3.305e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.369145	0.03637	T	-0.737808	0.03984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926359	0.13016	9.519	0.81641040410349341	0.13786	0.16848	0.19576	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999985654621171	0.51787	0.099367	0.02607	0	0.084543	0.02171	0	0.083675	0.02720	0	0.117559	0.03655	0	0.0883137	0.19995	3.87	1.61	0.22752	-0.094000	0.11060	-0.267000	0.10379	0.599000	0.40250	0.520000	0.27111	0.000000	0.08366	0.518000	0.29429	0.2765:0.605:0.0:0.1186	4.513	0.11327	289	0.88525	.	.	.	.	.	.	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	0.02381	848.98	33	chr16	53695312	.	C	G	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-02;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=-1.773e+00;SOR=0.578	GT:AD:DP:GQ:PL	0/1:34,34:68:99:863,0,923	20	0	1	0
chr16	56983380	56983380	A	G	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon14:c.A1196G:p.D399G	Hyperalphalipoproteinemia, Autosomal dominant	.	0	1518	3	1	0	5	0.0016442	.	.	32566	Hyperalphalipoproteinemia_1|not_provided	MedGen:C3149462,OMIM:143470|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.584	P	0.542	P	0.019	U	0.665	N	0.805	L	2.67	T	-1.105	T	0.018	T	0.249	1.729	11.74	3.16	1.440	4.599	7.982	0.134	.	0.0002	0.0061901	0.0024	0	8.639e-05	0.0317	0.0002	0.0001	0	0.0002	0.0022315	345	154602	rs2303790	0.0011	0.0011	0.0011	0.0010	0.0341	0.0010	0.0010	0.0326	0.0320	0	2.236e-05	0	0.0341	0.0004	0.0003	8.094e-05	0.0010	0.0002	0.0010	0.0010	0.0008	0.0012	0.0271	0.0009	0.0008	0.0234	0.0220	2.405e-05	0	6.536e-05	0	0.0271	0.0004	0	8.819e-05	0	0.0002	0.016	0.56456	D	0.008	0.69154	D	0.584	0.38894	P	0.542	0.48916	P	0.019147	0.27321	U	0.320861	0.664716	0.30417	N	1.955	0.52871	M	2.67	0.12473	T	-3.68	0.71882	D	0.612	0.71942	-1.1045	0.03588	T	0.018	0.07282	T	10	0.006863296	0.00156	T	.	.	.	0.134	0.36365	.	.	0.513112959101	0.50952	0.632089490351366	0.63142	0.517666413245	0.49627	0.362351566553	0.19729	T	0.341109	0.71005	T	-0.529483	0.00387	T	-0.508967	0.21421	T	0.0708451238476006	0.08768	T	0.869813	0.57430	D	0.29935724	0.52847	0.23115389	0.48239	0.3433861	0.56548	0.27276278	0.53189	-6.959	0.56933	T	0.621083938904807	0.68947	0.180	0.46458	B	.;.;.	.;.;.	3.036148	0.40690	21.2	0.99588419701121311	0.73454	0.78007	0.38425	D	AEFDGBI	0.524183	0.54748	D	-0.170055832406883	0.34385	1.961985	-0.149304520487397	0.33435	1.912536	0.999999384905705	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.16	3.16	0.35406	4.230000	0.58432	4.733000	0.44564	0.754000	0.88378	1.000000	0.71638	0.964000	0.29435	0.168000	0.20914	1.0:0.0:0.0:0.0	7.982	0.29349	851	0.35303	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	863.98	34	chr16	56983380	.	A	G	863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=815;ExcessHet=0.0000;FS=1.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.07;ReadPosRankSum=0.207;SOR=0.594	GT:AD:DP:GQ:PL	0/1:68,39:107:99:878,0,1676	20	0	1	0
chr16	57382560	57382560	C	T	exonic	CX3CL1	.	nonsynonymous SNV	CX3CL1:NM_001304392:exon2:c.C467T:p.P156L	.	.	421	1096	5	0	0	5	0.00227583	.	.	714993	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.088	B	0.005	B	0.000	N	1.000	N	0	N	3.7	T	-0.968	T	0.007	T	0.094	0.839	8.387	1.29	0.304	0.269	2.536	0.091	0.00439106112767	0.0036	0.00139776	0.0030	0.0004	0.0029	0.0001	0.0024	0.0046	0.0045	0	0.0029819	461	154602	rs137886321	0.0033	0.0033	0.0033	0.0032	0.0040	0.0032	0.0032	0.0037	0.0036	0.0004	0.0022	0.0038	0	0.0031	0.0040	0.0038	0.0029	6.956e-05	0.0030	0.0030	0.0029	0.0031	0.0047	0.0027	0.0027	0.0043	0.0041	0.0005	0.0011	0.0038	0.0043	0	0.0030	0	0.0047	0.0033	0	0.059	0.37966	T	0.104	0.38596	T	0.088	0.25022	B	0.005	0.11217	B	0.000061	0.00414	N	21.798200	1	0.08975	N	0	0.06538	N	3.7	0.13434	T	-1.62	0.38924	N	0.072	0.05414	-0.9683	0.37551	T	0.007	0.02244	T	10	0.0042164624	0.00084	T	0.004391	0.10718	T	0.091	0.26358	.	.	0.043077524339	0.03247	0.10863226829346284	0.10792	0.310891961663	0.33396	0.245358467102	0.03295	T	0.274866	0.64738	T	-0.676851	0.00050	T	-0.741998	0.03807	T	0.00579047969745276	0.00063	T	0.537446	0.18074	T	0.04769897	0.08195	0.03955536	0.04075	0.04769897	0.08194	0.03955536	0.04075	-3.855	0.21629	T	.	.	0.079	0.10497	B	.;.;.	.;.;.	0.767465	0.11374	7.988	0.42212572945508198	0.03096	0.03944	0.09342	N	AEFDGBCI	.	.	.	-1.12769086801623	0.06155	0.2825768	-1.1299363594426	0.07133	0.3458407	0.99045781639145	0.32159	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.45	1.29	0.20717	0.150000	0.16082	1.242000	0.25113	-0.150000	0.12128	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.1064:0.1944:0.5076:0.1916	2.536	0.04427	846	0.36215	.;.;.	.	.	.	.	.	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	2644.68	35	chr16	57382560	.	C	T	2644.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.67;DP=857;ExcessHet=0.3300;FS=4.703;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-1.560e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:33,30:63:99:840,0,793	18	0	3	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,27:129:30:.:.:30,0,2110	13	0	7	1
chr16	67163816	67163816	C	A	exonic	FBXL8	.	nonsynonymous SNV	FBXL8:NM_018378:exon3:c.C1121A:p.A374E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.001	B	0.002	B	0.272	N	1.000	N	1.39	L	.	.	-0.915	T	0.103	T	0.273	3.297	17.08	-4.23	-0.264	-0.063	7.527	0.060	0.0111444041461	.	0.000199681	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199975180	3.594e-06	6.84e-06	5.68e-06	1.456e-06	0.0004	1.05e-06	7.7e-07	6.939e-05	2.898e-05	0	0	0	0	0	0.0004	1.844e-06	1.733e-05	0	6.571e-06	6.564e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.014	0.53172	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.272249	0.03780	N	1.581870	0.999917	0.19599	N	1.1	0.28011	L	.	.	.	0.58	0.02598	N	0.076	0.05162	-0.9153	0.46181	T	0.103	0.37994	T	9	0.03180635	0.01320	T	0.011144	0.28456	T	0.060	0.17295	.	.	0.0762999501168	0.06990	0.5128410902770355	0.51206	1.50208163168	0.87046	0.523213744164	0.42078	T	0.008699	0.07968	T	-0.14129	0.29684	T	-0.44073	0.28726	T	0.457863718271255	0.31087	T	0.518348	0.16810	T	0.15673529	0.35354	0.14683016	0.34770	0.15673529	0.35354	0.14683016	0.34770	-4.413	0.29733	T	.	.	0.190	0.41663	B	.;.	.;.	1.960405	0.24899	16.57	0.96660930536928424	0.30625	0.20401	0.21027	N	ALL	0.086960	0.17632	N	-0.909220397386636	0.10626	0.5086582	-0.989431187039385	0.10022	0.5021653	0.999999999788863	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	4.23	-4.23	0.03530	-0.076000	0.11374	-1.831000	0.04647	-0.229000	0.07765	0.089000	0.22556	0.000000	0.08366	0.000000	0.00833	0.3901:0.2016:0.4084:0.0	7.527	0.26829	46	0.97728	.;.	.	.	.	.	.	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	862.98	35	chr16	67163816	.	C	A	862.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.895e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/1:29,36:65:99:877,0,617	20	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.679	P	0.136	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.096	T	0.060	T	0.366	2.071	12.88	5.39	2.528	4.514	15.888	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	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	123.4	57	chr16	67228398	.	C	G	123.4	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.360e+00;DP=1501;ExcessHet=1.7912;FS=113.169;InbreedingCoeff=-0.2184;MLEAC=6;MLEAF=0.176;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.968;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,15:92:9:.:.:9,0,2274	11	0	6	4
chr16	67842901	67842901	-	GC	exonic	THAP11	.	frameshift insertion	THAP11:NM_020457:exon1:c.347_348insGC:p.Q117Hfs*49,	.	.	372	1146	3	0	1	4	0.00130719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258389665	3.135e-05	3.8e-05	3.461e-05	2.806e-05	0.0003	2.39e-05	2.134e-05	0.0002	0.0002	0	0.0003	0.0002	7.677e-05	1.94e-05	0	8.196e-06	6.759e-05	9.918e-05	8.111e-05	9.262e-05	6.61e-05	9.682e-05	0.0005	4.617e-05	3.607e-05	0.0002	0.0002	2.59e-05	0	0.0005	0.0003	0.0002	0	0	2.966e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	105.94	34	chr16	67842901	.	A	AGC	105.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.740e-01;DP=812;ExcessHet=0.0000;FS=8.243;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.71;MQRankSum=-4.249e+00;QD=3.12;ReadPosRankSum=0.929;SOR=2.732	GT:AD:DP:GQ:PL	0/1:29,5:34:99:120,0,1146	20	0	1	0
chr16	67842902	67842902	-	CAGCAGCAGCAGCAGCAACAGCAGCAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.348_349insCAGCAGCAGCAGCAGCAACAGCAGCAG:p.Q132_S133insQQQQQQQQQ,	.	.	0	219	4	0	3	7	0.00904977	.	.	1544425	THAP11-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0005	0.0028	0.0046	0.0006	0.0017	0.0037	0.0055	0.0001153	3	26028	.	0.0017	0.0038	0.0016	0.0018	0.0054	0.0016	0.0016	0.0050	0.0048	0.0009	0.0012	0.0005	0.0043	0.0010	0.0025	0.0014	0.0016	0.0054	0.0026	0.0026	0.0025	0.0026	0.0063	0.0023	0.0023	0.0044	0.0038	0.0017	0	0.0019	0.0003	0.0057	0.0011	0.0035	0.0031	0.0034	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1445.05	34	chr16	67842902	.	A	ACAGCAGCAGCAGCAGCAACAGCAGCAG,AGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	1445.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.798;DP=823;ExcessHet=0.1072;FS=1.964;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.43;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.891;SOR=0.957	GT:AD:DP:GQ:PL	0/2:25,0,5:30:99:634,215,1444,0,967,1100	19	0	1	0
chr16	67842902	67842902	-	GCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	exonic	THAP11	.	frameshift insertion	THAP11:NM_020457:exon1:c.348_349insGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG:p.Q117Afs*137,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1445.05	34	chr16	67842902	.	A	ACAGCAGCAGCAGCAGCAACAGCAGCAG,AGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAG	1445.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.798;DP=823;ExcessHet=0.1072;FS=1.964;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.43;MQRankSum=0.00;QD=18.53;ReadPosRankSum=0.891;SOR=0.957	GT:AD:DP:GQ:PL	0/2:25,0,5:30:99:634,215,1444,0,967,1100	19	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.63	M	-1.59	D	0.600	D	0.727	D	0.374	4.496	24.1	4.37	1.333	7.712	15.754	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	186.47	102	chr16	68828281	.	G	C	186.47	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-1.109e+00;DP=2532;ExcessHet=0.6776;FS=194.204;InbreedingCoeff=-0.2767;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=-3.430e-01;SOR=10.494	GT:AD:DP:GQ:PL	0/1:109,35:144:14:14,0,2080	7	0	4	10
chr16	70156611	70156611	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G2072A:p.R691Q	.	.	406	1110	4	2	0	8	0.00359066	.	.	2817619	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.967	D	0.000	D	1.000	D	2.76	M	-1.08	T	0.300	D	0.598	D	0.578	5.908	36	6.03	2.868	9.793	19.563	0.515	0.140670382393	0.0033	0.00239617	0.0044	0.0011	0.0019	0	0.0026	0.0071	0.0033	0.0005	0.0039715	614	154602	rs117263218	0.0040	0.0051	0.0041	0.0040	0.0049	0.0040	0.0039	0.0048	0.0047	0.0007	0.0018	0.0001	0	0.0024	0.0002	0.0049	0.0029	0.0007	0.0028	0.0035	0.0030	0.0025	0.0048	0.0026	0.0025	0.0043	0.0042	0.0011	0	0.0011	0	0	0.0028	0	0.0048	0.0028	0.0002	0.007	0.68238	D	0.012	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000012	0.62929	D	0.115046	1	0.81001	D	2.725	0.79712	M	-1.08	0.77078	T	-2.93	0.65283	D	0.471	0.68863	0.300	0.87567	D	0.598	0.85683	D	10	0.012163997	0.00268	T	0.14067	0.82311	D	0.515	0.79279	.	.	0.94171101366	0.94110	0.7965086461577588	0.79603	0.3324837602	0.35292	0.48716583848	0.37046	T	0.344442	0.89941	T	-0.197281	0.21198	T	-0.0524306	0.66856	D	0.0373471641447648	0.03216	T	0.974203	0.90777	D	0.24801373	0.47784	0.23960651	0.49313	0.26413882	0.49480	0.22328494	0.47200	-8.666	0.65523	D	.	.	0.301	0.57504	B	.;.;.;.;.;.	.;.;.;.;.;.	5.537937	0.91934	32	0.99949798929909006	0.99938	0.97210	0.73340	D	AEFDGBCI	0.910230	0.86788	D	0.984106185791155	0.95236	13.43068	0.966025756131798	0.97855	16.90052	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.930000	0.98820	9.746000	0.81453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	19.563	0.95376	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	43	chr16	70156611	.	G	A	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.874;DP=1519;ExcessHet=0.0000;FS=1.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.14;ReadPosRankSum=0.566;SOR=0.810	GT:AD:DP:GQ:PL	0/1:284,86:370:99:1546,0,7365	20	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.008	N	0.979	N	-2.25	N	1.83	T	-0.944	T	0.011	T	0.018	-1.985	0.007	2.3	0.074	0.490	7.931	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	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	329.21	41	chr16	70941764	.	T	C	329.21	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.36;DP=1795;ExcessHet=1.1607;FS=31.919;InbreedingCoeff=-0.1475;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-5.512e+00;QD=0.58;ReadPosRankSum=-2.458e+00;SOR=4.591	GT:AD:DP:GQ:PL	0/1:102,12:114:20:20,0,2642	15	0	5	1
chr16	75414590	75414590	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon2:c.G170A:p.S57N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.003	B	0.001	B	0.234	N	0.997	N	1.59	L	0.92	T	-1.042	T	0.106	T	0.131	4.170	21.6	5.64	2.658	2.103	15.216	0.095	0.00761520582534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.39820	T	0.226	0.25438	T	0.003	0.11197	B	0.001	0.04355	B	0.233843	0.15860	N	0.673458	0.996543	0.22981	N	1.95	0.52479	M	0.92	0.44461	T	-0.63	0.34795	N	0.19	0.20793	-1.0416	0.16830	T	0.106	0.38636	T	10	0.14283314	0.27125	T	0.007615	0.20192	T	0.095	0.27398	0.157	0.06070	0.629112818682	0.62608	0.02188016319116512	0.02140	0.0131043289129	0.01263	0.479553222656	0.35995	T	0.036751	0.24220	T	-0.229881	0.16666	T	-0.567985	0.15635	T	0.479482755643933	0.31878	T	0.562144	0.19863	T	0.11928983	0.28089	0.078210615	0.17497	0.11928983	0.28089	0.078210615	0.17497	-3.813	0.20999	T	.	.	0.064	0.17189	B	.;.;.	.;.;.	2.067376	0.26289	17.07	0.9942059769889221	0.63742	0.67476	0.33447	D	AEFBI	0.266404	0.38333	N	-0.0348032291430037	0.40283	2.389696	0.154357485495578	0.47373	2.968535	0.999999663528292	0.74766	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	2.160000	0.41975	0.180000	0.15620	0.599000	0.40250	1.000000	0.71638	0.965000	0.29475	0.997000	0.79791	0.0:1.0:0.0:0.0	15.216	0.72954	635	0.64580	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	191.42	45	chr16	75414590	.	C	T	191.42	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.369e+00;DP=983;ExcessHet=0.6776;FS=179.431;InbreedingCoeff=-0.1639;MLEAC=5;MLEAF=0.139;MQ=59.99;MQRankSum=0.00;QD=0.87;ReadPosRankSum=-9.360e-01;SOR=8.688	GT:AD:DP:GQ:PL	0/1:37,19:56:87:87,0,630	14	0	4	3
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	0/1:10,19,0:29:99:502,0,243,532,300,833	11	2	7	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	0/1:48,36,0,0,0,2:86:99:1350,0,1896,1524,1983,3574,1524,1983,3574,3574,1524,1983,3574,3574,3574,1443,1847,3474,3474,3474,3556	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	0/1:48,36,0,0,0,2:86:99:1350,0,1896,1524,1983,3574,1524,1983,3574,3574,1524,1983,3574,3574,3574,1443,1847,3474,3474,3474,3556	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	0/1:48,36,0,0,0,2:86:99:1350,0,1896,1524,1983,3574,1524,1983,3574,3574,1524,1983,3574,3574,3574,1443,1847,3474,3474,3474,3556	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	0/1:48,36,0,0,0,2:86:99:1350,0,1896,1524,1983,3574,1524,1983,3574,3574,1524,1983,3574,3574,3574,1443,1847,3474,3474,3474,3556	4	4	6	0
chr16	89145306	89145306	G	A	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G611A:p.R204Q	Combined malonic and methylmalonic aciduria	YES	0	1519	3	0	0	3	0.000986518	.	.	200311	Inborn_genetic_diseases|not_specified|ACSF3-related_disorder|not_provided|Combined_malonic_and_methylmalonic_acidemia	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.011	B	0.013	B	0.025	U	0.821	N	0.11	N	1.04	T	-1.081	T	0.038	T	0.337	2.723	15.07	3.65	2.152	1.333	7.001	0.114	0.014222500733	0.0059	0.00319489	0.0046	0.0013	0.0020	0.0008	0.0043	0.0064	0.0045	0.0034	0.0044631	690	154602	rs144681140	0.0065	0.0065	0.0066	0.0064	0.0076	0.0064	0.0063	0.0075	0.0074	0.0012	0.0018	0.0007	0.0010	0.0042	0.0016	0.0076	0.0044	0.0037	0.0047	0.0047	0.0049	0.0044	0.0078	0.0044	0.0043	0.0072	0.0070	0.0014	0	0.0033	0.0003	0.0006	0.0043	0	0.0078	0.0028	0.0039	0.025	0.58626	D	0.089	0.40426	T	0.011	0.15914	B	0.013	0.16460	B	0.025382	0.26097	U	0.314197	0.978255	0.28886	N	0.705	0.18577	N	1.04	0.40218	T	-0.43	0.16393	N	0.531	0.56231	-1.0813	0.07099	T	0.038	0.16505	T	10	0.016626418	0.00351	T	0.014223	0.34189	T	0.114	0.32008	.	.	0.26169431596	0.25797	0.4902084639917607	0.48940	0.058545899825	0.06494	0.35657709837	0.18886	T	0.042358	0.31851	T	-0.463989	0.00928	T	-0.432442	0.29658	T	0.0170694514439318	0.00454	T	0.969903	0.95294	D	0.09251051	0.21705	0.07462348	0.16346	0.10821818	0.25588	0.06709118	0.13832	-7.97	0.60865	D	0.12609643622955544	0.12667	0.098	0.27222	B	.;.;.;.;.	.;.;.;.;.	3.011505	0.40274	21.1	0.99855948919229431	0.93458	0.71659	0.35109	D	AEFDGBHCI	0.304634	0.41227	N	-0.345309128193244	0.27445	1.505818	-0.167296538495479	0.32748	1.866217	0.999705277723038	0.41986	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.68	3.65	0.40985	1.440000	0.34634	6.648000	0.56206	-0.211000	0.08354	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0992:0.0:0.6206:0.2802	7.001	0.23986	884	0.28482	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|ZNF778|CBFA2T3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Substantia_nigra|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	ZNF778|CPNE7|ZNF778|ZNF778	Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs144681140	Uncertain significance	0	0	0	0	0	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	2355.98	33	chr16	89145306	.	G	A	2355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=914;ExcessHet=0.0000;FS=3.318;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.766;SOR=0.763	GT:AD:DP:GQ:PL	0/1:93,95:188:99:2370,0,2118	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	0/1:85,21:106:38:38,0,1829	5	0	12	4
chr16	89716568	89716568	C	T	exonic	VPS9D1	.	nonsynonymous SNV	VPS9D1:NM_004913:exon4:c.G325A:p.G109S,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.002	B	0.002	N	0.997	N	-1.645	N	.	.	-0.962	T	0.011	T	0.095	-0.110	3.462	3.04	0.334	0.855	6.374	0.062	0.00389881125786	0.0041	0.00319489	0.0042	0.0005	0.0016	0.0019	0.0047	0.0056	0.0022	0.0040	0.0043531	673	154602	rs191271054	0.0059	0.0059	0.0059	0.0059	0.0066	0.0058	0.0058	0.0065	0.0064	0.0007	0.0017	0.0058	0.0040	0.0041	0.0017	0.0066	0.0051	0.0040	0.0044	0.0045	0.0045	0.0044	0.0070	0.0042	0.0041	0.0065	0.0063	0.0009	0	0.0035	0.0069	0.0021	0.0041	0	0.0070	0.0043	0.0048	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.002004	0.37457	N	0.309728	0.997488	0.22640	N	-1.355	0.00654	N	.	.	.	1.31	0.00936	N	0.027	0.01004	-0.9624	0.38723	T	0.011	0.04134	T	9	0.004910052	0.00105	T	0.003899	0.09180	T	0.062	0.17934	.	.	0.139678290688	0.13603	0.08493763360141222	0.08427	0.174930252921	0.19695	0.311593472958	0.12147	T	0.007073	0.06489	T	-0.594679	0.00157	T	-0.619173	0.11250	T	0.000831246120220027	0.00008	T	0.529047	0.17505	T	0.026784262	0.01780	0.03949147	0.04053	0.026784262	0.01780	0.03949147	0.04052	-1.421	0.01610	T	.	.	0.070	0.03661	B	.;.	.;.	1.023881	0.14038	10.60	0.73606370221872341	0.10389	0.13040	0.17628	N	AEFBCI	0.044041	0.07038	N	-1.23051697427202	0.04563	0.206192	-1.02273204149248	0.09286	0.4611316	0.901692761377174	0.26108	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.28	3.04	0.34171	0.360000	0.19987	1.141000	0.24405	-0.344000	0.05652	0.997000	0.40164	1.000000	0.68203	0.029000	0.12982	0.0:0.2034:0.0:0.7966	6.374	0.20701	689	0.59000	.;.	.	.	.	.	rs191271054	Uncertain significance	0	0	0	0	0	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	2247.98	34	chr16	89716568	.	C	T	2247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.01;DP=895;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.473e+00;SOR=0.850	GT:AD:DP:GQ:PL	0/1:80,77:157:99:2262,0,1897	20	0	1	0
chr16	89869576	89869576	C	T	exonic	SPIRE2	.	nonsynonymous SNV	SPIRE2:NM_032451:exon14:c.C1816T:p.P606S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.435	D	0.637	D	0.949	4.743	26.5	5.12	2.404	7.177	17.585	0.742	0.624971319735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.736e-06	2.727e-06	1.377e-06	2.703e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.535	0.73915	M	-0.92	0.75108	T	-6.48	0.91522	D	0.933	0.93841	0.435	0.89610	D	0.637	0.87297	D	10	0.86989975	0.86251	D	0.624971	0.96763	D	0.742	0.91069	0.33	0.31519	0.702209452606	0.69962	0.6466799426783445	0.64602	0.666306048472	0.59188	0.689359009266	0.65614	T	0.505329	0.82402	D	0.378181	0.88592	D	0.305454	0.88448	D	0.995676457881927	0.87860	D	0.936306	0.76101	D	0.72487193	0.79434	0.63025045	0.78432	0.72487193	0.79436	0.63025045	0.78433	-9.7	0.72096	D	.	.	0.936	0.85503	P	.	.	4.910188	0.80777	27.4	0.99916085813329869	0.98379	0.94580	0.61629	D	AEFBCI	0.867787	0.78768	D	0.856420707391588	0.89471	9.985321	0.79806771131433	0.89658	10.06691	0.999999993774134	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	5.12	5.12	0.69459	7.414000	0.79329	7.582000	0.60992	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.585	0.87879	604	0.67577	.	.	.	.	.	.	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	1016.98	34	chr16	89869576	.	C	T	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e+00;DP=828;ExcessHet=0.0000;FS=3.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-6.980e-01;SOR=0.485	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1031,0,1606	20	0	1	0
chr17	3542647	3542647	A	C	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon6:c.T518G:p.M173R	Olmsted syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.993	D	0.000	D	0.974	D	2.11	M	-0.18	T	-0.165	T	0.405	T	0.909	3.529	18.01	5.34	2.155	4.717	14.815	0.633	0.044795371739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.032	0.53426	D	0.984	0.73220	D	0.974	0.73157	D	0.000011	0.62929	D	0.113521	0.973999	0.39069	D	2.295	0.65404	M	-0.18	0.65747	T	-3.68	0.70314	D	0.891	0.89020	-0.1650	0.78549	T	0.405	0.75522	T	10	0.8859072	0.87919	D	0.044795	0.61666	D	0.633	0.85924	0.764	0.89213	0.778809368013	0.77677	0.959582743715017	0.95944	0.676155866207	0.59746	0.758194625378	0.75661	T	0.262998	0.63464	T	0.305694	0.83416	D	0.201332	0.83200	D	0.986143946647644	0.76940	D	0.882712	0.60367	D	0.8992864	0.91319	0.70633596	0.82686	0.8992864	0.91320	0.70633596	0.82687	-11.684	0.83278	D	.	.	0.996	0.95940	P	.;.;.;.	.;.;.;.	4.740569	0.76452	26.5	0.98662198284268798	0.44345	0.96795	0.70980	D	AEFDBI	0.665835	0.63451	D	0.653497863947941	0.76596	6.515662	0.633864656499335	0.77414	6.674794	0.93862271961933	0.27351	0.719381	0.83141	0	0.723133	0.82719	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	3.641000	0.54094	8.142000	0.76686	0.735000	0.85950	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.815	0.69656	632	0.64850	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing 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	1880.98	40	chr17	3542647	.	A	C	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=945;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=-2.490e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/1:77,77:154:99:1895,0,1814	20	0	1	0
chr17	3885549	3885549	G	A	exonic	CAMKK1	.	nonsynonymous SNV	CAMKK1:NM_032294:exon2:c.C139T:p.R47W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.731	P	0.085	N	1.000	N	0.69	N	-0.49	T	-0.807	T	0.266	T	0.508	3.217	16.78	1.59	1.232	1.365	4.524	0.250	0.0978680176507	.	.	1.661e-05	0	0	0	0	1.515e-05	0	6.058e-05	1.29e-05	2	154602	rs113610926	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0003	1.674e-05	1.478e-05	0.0002	0.0002	0	0	0	0.0003	0	0.0002	1.349e-05	1.656e-05	4.637e-05	1.971e-05	1.97e-05	0	4.034e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	9.409e-05	0	1.47e-05	0	0	0.004	0.65419	D	0.021	0.58089	D	0.993	0.65571	D	0.522	0.48285	P	0.084654	0.20685	N	0.446525	1	0.08975	N	0.345	0.11182	N	-0.51	0.74371	T	-1.76	0.41618	N	0.501	0.53357	-0.8066	0.54754	T	0.266	0.63759	T	10	0.28109002	0.45685	T	0.097868	0.76846	D	0.250	0.55888	0.279	0.23323	0.86857698694	0.86729	0.30257251461815965	0.30170	1.01584935357	0.74947	0.598633944988	0.52711	T	0.288407	0.66119	T	-0.152496	0.27920	T	-0.231124	0.51663	T	0.356136713433508	0.27258	T	0.935506	0.75876	D	0.0742254	0.16643	0.04792759	0.07009	0.0742254	0.16643	0.04792759	0.07009	-7.72	0.59147	D	.	.	0.126	0.36194	B	.;.;.	.;.;.	3.909328	0.56999	23.8	0.99875209521200747	0.95244	0.60349	0.31170	D	AEFDBIJ	0.247378	0.36796	N	0.117996162160886	0.47302	2.957876	0.104034028557463	0.44754	2.75112	0.999960520272621	0.48965	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.447301	0.06993	0	.	.	4.84	1.59	0.22622	1.595000	0.36318	6.148000	0.54152	0.676000	0.76740	0.058000	0.21700	1.000000	0.68203	0.962000	0.52141	0.0896:0.1472:0.5957:0.1674	4.524	0.11377	437	0.80299	.;.;.	.	.	.	.	.	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	1093.98	34	chr17	3885549	.	G	A	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.454;SOR=0.777	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1108,0,1314	20	0	1	0
chr17	4206422	4206422	C	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon7:c.G923A:p.R308Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.083	B	0.018	B	0.000	D	1.000	D	1.1	L	0.63	T	-1.052	T	0.094	T	0.137	2.155	13.16	5.77	2.726	3.837	12.238	0.076	0.00662388613628	.	.	3.313e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs768383868	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0002	7.08e-06	5.79e-06	6.246e-05	4.757e-05	0	0	0	2.519e-05	0	0.0002	3.597e-06	1.656e-05	0.0001	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.58	0.05992	T	0.454	0.12957	T	0.002	0.21238	B	0.001	0.08700	B	0.000422	0.44522	D	0.156952	0.999954	0.52396	D	1.015	0.25427	L	0.62	0.53302	T	-0.03	0.07444	N	0.137	0.13769	-1.0523	0.13763	T	0.094	0.35738	T	10	0.105332434	0.19464	T	0.006624	0.17472	T	0.076	0.22200	0.514	0.61307	0.513554409148	0.50995	0.3568062222381109	0.35594	0.510448245774	0.49159	0.32399648428	0.14027	T	0.041056	0.25731	T	-0.362397	0.03997	T	-0.498655	0.22488	T	0.0730876165736463	0.09078	T	0.934906	0.75551	D	0.0901703	0.21090	0.08425982	0.19370	0.0901703	0.21090	0.08425982	0.19370	-6.213	0.48269	T	.	.	0.087	0.11317	B	.;.;.	.;.;.	3.479934	0.48587	22.6	0.98854136201230747	0.47356	0.94296	0.60715	D	AEFDGBI	0.326143	0.42751	N	-0.134665508836358	0.35889	2.067271	0.0463949536613236	0.41898	2.524907	0.999957662266164	0.48110	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.77	5.77	0.91077	3.889000	0.55925	7.696000	0.66036	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.950000	0.49671	0.0:0.9149:0.0:0.0851	12.238	0.53838	351	0.85421	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1528.98	33	chr17	4206422	.	C	T	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.218;DP=855;ExcessHet=0.0000;FS=2.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.93;ReadPosRankSum=0.782;SOR=0.922	GT:AD:DP:GQ:PL	0/1:84,70:154:99:1543,0,1879	20	0	1	0
chr17	4815870	4815870	G	A	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon14:c.G1391A:p.R464H	.	.	.	.	.	.	.	.	.	.	.	2685111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.24	H	1.49	T	0.029	D	0.348	T	0.912	5.598	35	5.58	2.619	9.344	17.039	0.678	0.0310283449266	.	.	4.119e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs756122541	1.573e-05	1.573e-05	9.529e-06	2.2e-05	0.0002	1.048e-05	8.75e-06	2.003e-05	1.055e-05	0	4.472e-05	0	7.557e-05	0	0.0002	1.169e-05	3.311e-05	2.319e-05	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	1.49	0.31470	T	-4.8	0.80682	D	0.95	0.96416	0.029	0.82821	D	0.348	0.71233	T	10	0.8933666	0.88685	D	0.031028	0.53207	D	0.678	0.88157	0.745	0.87654	0.771303993577	0.76920	0.9127612403108034	0.91250	0.687788100732	0.60400	0.581966400146	0.50362	T	0.659612	0.89769	D	0.0804424	0.62092	D	0.186641	0.82377	D	0.992595136165619	0.83115	D	0.997542	0.99003	D	0.94005436	0.95253	0.84840536	0.91397	0.94005436	0.95253	0.84840536	0.91398	-11.283	0.81188	D	.	.	0.958	0.87815	P	.;.	.;.	5.791967	0.93574	33	0.99947436024254255	0.99913	0.98542	0.83898	D	AEFDBCI	0.930642	0.91824	D	1.12920439655086	0.98640	18.88125	1.03535382459125	0.99200	21.18876	0.999999972744073	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.901000	0.98623	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.039	0.86358	447	0.79583	Phospholipase D/Transphosphatidylase|Phospholipase D/Transphosphatidylase|Phospholipase D/Transphosphatidylase;.	.	.	.	.	.	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	1370.98	39	chr17	4815870	.	G	A	1370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.680e-01;DP=899;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-8.610e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1385,0,1378	20	0	1	0
chr17	4933836	4933836	C	T	exonic	GP1BA	.	nonsynonymous SNV	GP1BA:NM_000173:exon2:c.C1232T:p.P411L,	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	65	1432	9	3	13	28	0.00521014	.	.	256258	GP1BA-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.849	P	0.061	N	0.977	D	1.62	L	-0.5	T	-0.320	T	0.392	T	0.263	2.640	14.79	4.75	2.181	-0.237	13.233	0.223	0.409234085502	0.0003	0.00179712	0.0011	0	0.0003	0	0	0.0008	0.0013	0.0043	0.0005379	14	26028	rs139921368	0.0007	0.0007	0.0006	0.0009	0.0103	0.0007	0.0007	0.0081	0.0073	3.218e-05	0.0004	0.0062	0	9.22e-05	0.0103	0.0003	0.0012	0.0054	0.0006	0.0007	0.0007	0.0005	0.0043	0.0005	0.0004	0.0028	0.0023	0	0	0.0004	0.0088	0	0.0001	0.0038	0.0005	0.0005	0.0043	0.001	0.78490	D	0.008	0.79402	D	.	.	.	.	.	.	0.060994	0.22206	N	0.231856	0.977361	0.39360	D	1.79	0.46772	L	-0.5	0.70480	T	-2.75	0.58407	D	0.079	0.10198	-0.3202	0.74416	T	0.392	0.74561	T	10	0.007501811	0.00171	T	0.409234	0.93562	D	0.223	0.52023	.	.	0.860402054649	0.85905	0.1318105993614151	0.13106	0.110247832495	0.12439	0.180596113205	0.00099	T	0.525591	0.83488	D	-0.400171	0.02309	T	-0.349068	0.39312	T	0.0561652924732646	0.06551	T	0.882812	0.60417	D	0.07960413	0.18194	0.087891996	0.20460	0.09520517	0.22400	0.0975654	0.23228	-6.348	0.49102	T	0.3752944579353178	0.47036	0.100	0.17232	B	.;.	.;.	0.453327	0.08233	4.973	0.87633912005926262	0.17369	0.34515	0.25086	N	AEFBCI	0.085307	0.17292	N	-0.0820000087491434	0.38183	2.232379	-0.223685744150735	0.30689	1.730123	0.996179405134013	0.34572	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.75	4.75	0.59954	0.328000	0.19425	-0.427000	0.09246	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	13.233	0.59383	393	0.83123	.;.	.	.	.	.	.	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	1	0	0.05882	5655.15	135	chr17	4933836	.	C	T	5655.15	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-6.400e-01;DP=2479;ExcessHet=0.1128;FS=1.260;InbreedingCoeff=-0.1053;MLEAC=2;MLEAF=0.059;MQ=59.94;MQRankSum=0.071;QD=15.84;ReadPosRankSum=0.802;SOR=0.620	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2615,0,2323	15	0	2	4
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|1:0,237,0:237:99:1|1:4933907_ACCACCCCAGAGCCCAC_A:9061,713,0,9061,713,9061:4933907	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	1|1:0,237,0:237:99:1|1:4933907_ACCACCCCAGAGCCCAC_A:9061,713,0,9061,713,9061:4933907	0	10	6	1
chr17	5108940	5108940	G	A	exonic	ZNF232	.	nonsynonymous SNV	ZNF232:NM_001320952:exon3:c.C611T:p.P204L	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.007	B	0.104	N	0.999	D	0.345	N	3.19	T	-0.986	T	0.011	T	0.083	1.773	11.89	2.86	0.902	1.250	5.179	0.094	0.0604894586746	.	0.000998403	0.0006	0	8.637e-05	0	0	0.0002	0	0.0031	0.0004981	77	154602	rs149710317	0.0004	0.0004	0.0003	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0	4.472e-05	0.0001	0	0	0.0062	0.0002	0.0005	0.0036	0.0002	0.0002	0.0002	0.0003	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	6.536e-05	0.0003	0	0	0.0034	0.0002	0	0.0048	0.765	0.03431	T	0.366	0.16668	T	.	.	.	.	.	.	0.104292	0.19710	N	0.271355	0.999054	0.45965	D	.	.	.	3.16	0.07711	T	0.62	0.02442	N	0.217	0.24260	-0.9856	0.33687	T	0.011	0.04042	T	10	0.0038862824	0.00074	T	0.060489	0.68019	D	0.094	0.27141	.	.	0.0297737177859	0.01360	0.2777137317567188	0.27684	0.2197955663	0.24518	0.326052337885	0.14337	T	0.003194	0.02596	T	-0.644636	0.00078	T	-0.702429	0.05694	T	0.0388728978443438	0.03488	T	0.468553	0.13811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30582	B	.;.	.;.	1.653020	0.21087	15.04	0.97580722171742107	0.34736	0.73162	0.35791	D	AEFDBI	0.049833	0.08648	N	-0.661643647908694	0.17122	0.8783616	-0.543791477222628	0.20970	1.132274	0.14231288637056	0.17296	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.84	2.86	0.32427	1.611000	0.36490	1.033000	0.23495	0.662000	0.56354	0.343000	0.25700	0.015000	0.20450	1.000000	0.97212	0.1127:0.0:0.6835:0.2038	5.179	0.14477	599	0.68140	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1205.11	34	chr17	5108940	.	G	A	1205.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.370e-01;DP=774;ExcessHet=0.1072;FS=2.393;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=1.29;SOR=0.932	GT:AD:DP:GQ:PL	0/1:44,26:70:99:597,0,1210	19	0	2	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	YES	1	1480	38	3	0	44	0.0146471	.	.	76620	Leber_congenital_amaurosis_4|Leber_congenital_amaurosis_1|AIPL1-related_disorder|not_specified|not_provided	MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN239169|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.031	B	0.023	B	0.385	N	1.000	D	0.345	N	-0.61	T	-1.134	T	0.132	T	0.665	2.423	14.06	-3.89	-1.235	-0.228	4.532	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.02381	2197.98	34	chr17	6425710	.	C	A	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.968;DP=888;ExcessHet=0.0000;FS=2.846;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-1.854e+00;SOR=0.487	GT:AD:DP:GQ:PL	0/1:69,87:156:99:2212,0,1590	20	0	1	0
chr17	6652010	6652010	C	A	exonic	C17orf100	.	nonsynonymous SNV	C17orf100:NM_001105520:exon1:c.C97A:p.R33S,	.	.	357	1159	1	0	5	6	0.00043122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.949	P	0.636	P	.	.	0.998	N	0	N	.	.	-1.084	T	0.055	T	0.293	3.805	19.32	3.23	1.073	1.879	8.582	0.085	0.00774940836745	0.0002	.	0.0011	0	0.0029	0	0	0.0002	0	0.0020	0.0002199	34	154602	rs375738897	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	0.0003	0	0	0	0.0009	0.0001	0.0002	0.0014	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	9.695e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	0.0002	0.0009	0.0014	.	.	.	.	.	.	0.949	0.53761	P	0.636	0.51948	P	.	.	.	.	0.998394	0.22181	N	0.695	0.17993	N	.	.	.	.	.	.	.	.	-1.0837	0.06646	T	0.055	0.23338	T	8	0.0190126	0.00420	T	0.007749	0.20563	T	.	.	.	.	.	.	0.12708782309222355	0.12634	.	.	.	.	.	0.124195	0.44906	T	-0.420365	0.01701	T	-0.422153	0.30827	T	0.102907612983851	0.12675	T	.	.	.	0.18499492	0.39841	0.12854789	0.30926	0.18499492	0.39841	0.12854789	0.30925	-6.732	0.52051	T	.	.	0.384	0.58674	A	.	.	3.538793	0.49683	22.8	0.99137072511884916	0.53437	0.68223	0.33721	D	AEFDGBHCI	0.194847	0.32191	N	0.101274485352608	0.46522	2.891303	0.130773787118787	0.46132	2.864172	0.999999999929465	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	4.2	3.23	0.36150	1.084000	0.30439	-0.466000	0.09008	0.542000	0.25261	0.999000	0.42656	0.000000	0.08366	0.012000	0.09680	0.0:0.8873:0.0:0.1127	8.582	0.32798	872	0.31118	.	.	.	.	.	.	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	1393.98	34	chr17	6652010	.	C	A	1393.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=823;ExcessHet=0.0000;FS=2.437;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=0.242;SOR=0.491	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1408,0,1403	20	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,50,12:206:99:.:.:614,0,4588,913,2751,3422	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,50,12:206:99:.:.:614,0,4588,913,2751,3422	6	0	10	4
chr17	7038641	7038641	G	T	exonic	SLC16A13	.	nonsynonymous SNV	SLC16A13:NM_201566:exon3:c.G833T:p.G278V,	.	.	424	1085	11	2	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.025	B	0.012	B	0.043	N	1.000	D	0.88	L	-0.06	T	-1.068	T	0.017	T	0.577	1.197	9.865	5.59	2.627	2.865	17.086	0.162	0.00825575818824	0.0002	0.00179712	0.0011	0.0002	0.0002	0	0	0.0003	0	0.0065	0.0009638	149	154602	rs184174774	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0058	0.0056	0	0	0.0002	0	1.872e-05	0.0035	8.993e-05	0.0005	0.0062	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.812e-05	0	0	0.0003	0	0	0	0.0001	0	0.0041	0.671	0.04548	T	0.501	0.11153	T	0.025	0.19245	B	0.012	0.16012	B	0.042677	0.23818	N	0.475889	0.99998	0.54805	D	1.08	0.27187	L	-0.06	0.63568	T	0.33	0.03889	N	0.328	0.36884	-1.0683	0.09791	T	0.017	0.07092	T	10	0.0048539937	0.00103	T	0.008256	0.21878	T	0.162	0.41843	.	.	0.413241256734	0.40943	0.5010361464040538	0.50025	0.368163603029	0.38376	0.401091575623	0.25220	T	0.007882	0.07256	T	-0.335478	0.05708	T	-0.252055	0.49613	T	0.0296607524246181	0.01938	T	0.688231	0.29741	T	0.19471332	0.41231	0.18879253	0.42190	0.19471332	0.41231	0.18879253	0.42189	-0.662	0.00693	T	.	.	0.115	0.23005	B	.	.	2.742183	0.35919	20.1	0.88819230020886974	0.18281	0.25863	0.22825	N	AEFDBCI	0.537821	0.55547	D	-0.27498234780677	0.30118	1.676391	-0.0972934918708493	0.35501	2.054705	0.999999993393148	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.59	5.59	0.84677	2.762000	0.47278	11.810000	0.96908	0.676000	0.76740	0.160000	0.23797	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.086	0.86487	754	0.51307	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	2694.98	34	chr17	7038641	.	G	T	2694.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.610e-01;DP=1185;ExcessHet=0.0000;FS=1.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.784e+00;SOR=0.610	GT:AD:DP:GQ:PL	0/1:115,98:213:99:2709,0,3147	20	0	1	0
chr17	7319055	7319055	G	A	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon22:c.C3673T:p.L1225F	.	.	427	1090	5	0	0	5	0.00228833	.	.	2814805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.995	D	0.919	D	0.000	D	0.813	D	1.445	L	1.43	T	-0.869	T	0.129	T	0.517	3.787	19.22	4.83	2.367	5.142	12.893	0.161	0.0130734832472	0.0019	0.00159744	0.0026	0.0001	0.0008	0	0.0006	0.0032	0.0035	0.0053	0.0022768	352	154602	rs200109408	0.0035	0.0035	0.0034	0.0035	0.0041	0.0034	0.0034	0.0038	0.0038	0.0005	0.0007	7.722e-05	0	0.0016	0.0014	0.0039	0.0034	0.0041	0.0022	0.0022	0.0023	0.0020	0.0039	0.0020	0.0019	0.0034	0.0033	0.0006	0	0.0009	0	0	0.0012	0	0.0038	0.0019	0.0039	0.302	0.14497	T	0.149	0.32675	T	0.995	0.67487	D	0.919	0.65474	D	0.000258	0.46924	D	0.086622	0.813267	0.34671	D	1.175	0.29870	L	1.43	0.32958	T	-1.73	0.41046	N	0.557	0.61002	-0.8692	0.50589	T	0.129	0.43767	T	10	0.010265142	0.00229	T	0.013073	0.32181	T	0.161	0.41658	.	.	0.196089822672	0.19227	0.2942074236727332	0.29333	1.35714377072	0.84207	0.692753434181	0.66101	T	0.029025	0.20890	T	-0.412388	0.01916	T	-0.361418	0.37888	T	0.030780404803315	0.02111	T	0.924308	0.72323	D	0.11423163	0.26970	0.12781076	0.30759	0.11423163	0.26969	0.12781076	0.30759	-6.298	0.48706	T	.	.	0.362	0.57361	A	.;.;.	.;.;.	3.940197	0.57647	23.9	0.99782980474313177	0.86955	0.93010	0.57098	D	AEFBI	0.605146	0.59597	D	0.55858176694311	0.70606	5.526295	0.560882021617525	0.72156	5.765886	0.982725904208325	0.30445	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	4.388000	0.59397	8.574000	0.77618	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.1641:0.8358:0.0	12.893	0.57471	483	0.77230	.;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	941.98	36	chr17	7319055	.	G	A	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=787;ExcessHet=0.0000;FS=2.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.47;ReadPosRankSum=-8.140e-01;SOR=0.343	GT:AD:DP:GQ:PL	0/1:21,30:51:99:956,0,575	20	0	1	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	2/3:0,0,27,23,0,0:50:99:2099,2069,2073,898,914,837,1132,1133,0,1055,2069,2073,914,1133,2073,2069,2073,914,1133,2073,2073	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	2/3:0,0,27,23,0,0:50:99:2099,2069,2073,898,914,837,1132,1133,0,1055,2069,2073,914,1133,2073,2069,2073,914,1133,2073,2073	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	2/3:0,0,27,23,0,0:50:99:2099,2069,2073,898,914,837,1132,1133,0,1055,2069,2073,914,1133,2073,2069,2073,914,1133,2073,2073	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	2/3:0,0,27,23,0,0:50:99:2099,2069,2073,898,914,837,1132,1133,0,1055,2069,2073,914,1133,2073,2069,2073,914,1133,2073,2073	0	14	0	0
chr17	9594294	9594294	G	A	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon3:c.G305A:p.R102Q	.	.	.	.	.	.	.	.	.	.	.	958433	Situs_inversus|not_specified	Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.049	B	0.007	B	0.011	N	1.000	N	1.735	L	5.05	T	-0.497	T	0.533	D	0.067	0.839	8.388	2.16	0.291	1.191	9.748	0.031	0.0453781784925	0.0002	0.000199681	3.296e-05	0	8.637e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs34653219	3.489e-05	3.489e-05	3.403e-05	3.576e-05	0.0002	2.697e-05	2.438e-05	6.247e-05	4.758e-05	2.988e-05	0.0001	0	2.52e-05	0	0.0002	1.889e-05	0.0002	0.0001	3.286e-05	3.281e-05	1.286e-05	5.375e-05	0.0002	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.941e-05	0	0.0002	0.14	0.25664	T	0.197	0.27855	T	0.005	0.12996	B	0.004	0.10090	B	0.010745	0.29799	N	0.374904	0.999952	0.19072	N	.	.	.	-2.59	0.89822	D	-0.02	0.07444	N	0.228	0.27792	-0.4970	0.68758	T	0.533	0.82685	D	10	0.032058597	0.01351	T	0.045378	0.61950	D	0.031	0.07369	.	.	0.0846915920261	0.08053	0.1830619140476477	0.18225	0.116543839344	0.13151	0.228451222181	0.01855	T	0.025137	0.18856	T	-0.297296	0.08918	T	-0.405143	0.32787	T	0.0509484518818716	0.05666	T	0.768023	0.39669	T	0.0355034	0.04190	0.043040432	0.05265	0.0355034	0.04190	0.043040432	0.05265	-4.089	0.25128	T	.	.	0.081	0.10931	B	.;.	.;.	0.778211	0.11484	8.085	0.93661444398831395	0.23551	0.14495	0.18433	N	AEFBI	0.085208	0.17271	N	-0.91646996735044	0.10457	0.4997831	-0.93821216143472	0.11197	0.5689813	6.44021391586059E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	2.16	0.26663	1.331000	0.33398	-0.287000	0.10223	-0.188000	0.09543	0.166000	0.23880	0.000000	0.08366	0.054000	0.15518	0.2409:0.0:0.7591:0.0	9.748	0.39624	861	0.33516	.;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	1426.98	37	chr17	9594294	.	G	A	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=858;ExcessHet=0.0000;FS=2.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=0.346;SOR=0.504	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1441,0,1385	20	0	1	0
chr17	10362383	10362383	G	A	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon4:c.C325T:p.R109C,	.	.	0	1511	10	1	0	12	0.00395517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	5.11	H	-1.92	D	1.080	D	0.890	D	0.964	3.024	16.09	4.4	2.445	6.233	17.513	0.884	.	7.7e-05	0.00319489	0.0018	9.61e-05	0.0002	0	0	8.99e-05	0.0011	0.0125	0.0015847	245	154602	rs200117357	0.0008	0.0008	0.0004	0.0012	0.0119	0.0008	0.0007	0.0113	0.0111	0.0001	2.236e-05	0	5.038e-05	0	0.0028	6.025e-05	0.0008	0.0119	0.0005	0.0005	0.0003	0.0007	0.0129	0.0004	0.0004	0.0103	0.0094	7.221e-05	0	0	0	0	0	0	0.0001	0	0.0129	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99998	0.54805	D	3.645	0.94141	H	-1.92	0.84773	D	-6.22	0.90450	D	0.968	0.99100	1.080	0.98874	D	0.890	0.96345	D	9	0.037470937	0.02103	T	.	.	.	0.884	0.96614	.	.	0.924345301417	0.92358	0.7772875182400795	0.77678	0.583304359763	0.54049	0.907635331154	0.97242	D	0.85379	0.96695	D	0.096669	0.63931	D	0.377113	0.91325	D	0.212363624355918	0.21076	T	0.957504	0.83996	D	0.563561	0.70706	0.5261682	0.72624	0.563561	0.70707	0.5261682	0.72625	-13.168	0.90043	D	.	.	0.923	0.85851	P	.;.;.	.;.;.	5.246658	0.88089	29.5	0.99933971851284487	0.99535	0.96308	0.68506	D	AEFGBI	0.871856	0.79345	D	0.918980047670162	0.92657	11.55165	0.717545029198054	0.83711	8.094083	0.924162656883319	0.26770	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	6.592000	0.73979	7.391000	0.58514	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:1.0:0.0	17.513	0.87661	64	0.97283	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2559.98	37	chr17	10362383	.	G	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.173;DP=939;ExcessHet=0.0000;FS=4.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.32;MQRankSum=1.20;QD=11.96;ReadPosRankSum=-9.950e-01;SOR=0.765	GT:AD:DP:GQ:PL	0/1:108,106:214:99:2574,0,2542	20	0	1	0
chr17	10392944	10392944	G	C	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon37:c.C5350G:p.R1784G,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	0	1512	10	0	0	10	0.00329598	.	.	208334	not_provided|Inborn_genetic_diseases|not_specified|Hecht_syndrome	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.961	D	0.002	U	0.997	D	3.115	M	-1.22	T	0.384	D	0.573	D	0.888	3.381	17.40	2.95	1.356	0.392	13.855	0.701	.	0.0043	0.00459265	0.0060	0.0014	0.0017	0	0.0062	0.0082	0.0077	0.0062	0.0060025	928	154602	rs141215006	0.0076	0.0076	0.0077	0.0074	0.0086	0.0074	0.0074	0.0085	0.0084	0.0014	0.0018	0.0039	0	0.0057	0.0010	0.0086	0.0073	0.0060	0.0047	0.0047	0.0047	0.0046	0.0075	0.0044	0.0043	0.0070	0.0067	0.0012	0	0.0031	0.0029	0	0.0048	0	0.0075	0.0033	0.0069	0.0	0.91255	D	0.027	0.55341	D	0.995	0.67487	D	0.961	0.70482	D	0.001970	0.37549	U	0.000000	0.997207	0.43707	D	3.105	0.87672	M	-1.22	0.78752	T	-4.8	0.80682	D	0.86	0.85660	0.384	0.88852	D	0.573	0.84563	D	10	0.03230071	0.01379	T	.	.	.	0.701	0.89238	.	.	0.822958799421	0.82128	0.8499270809954134	0.84954	0.823692342368	0.67291	0.847513914108	0.89238	D	0.543963	0.84435	D	0.005399	0.52397	T	0.240106	0.85151	D	0.0320476777092876	0.02313	T	0.911409	0.68582	D	0.66291595	0.76055	0.778295	0.86925	0.66291595	0.76056	0.778295	0.86925	-14.399	0.94281	D	0.6223064529928632	0.69079	0.532	0.66003	A	.	.	4.200516	0.63377	24.6	0.99845280588852903	0.92489	0.85671	0.44829	D	AEFBI	0.594085	0.58916	D	0.565146211244879	0.71010	5.586229	0.460607459518537	0.65400	4.819095	3.00733319635873E-4	0.06406	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.06	2.95	0.33285	0.467000	0.21747	0.162000	0.15417	0.676000	0.76740	0.998000	0.41325	0.473000	0.25062	0.970000	0.54328	0.0:0.0:0.6031:0.3969	13.855	0.63017	63	0.97314	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3145.98	33	chr17	10392944	.	G	C	3145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.900e-01;DP=968;ExcessHet=0.0000;FS=2.125;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=1.05;QD=12.63;ReadPosRankSum=1.11;SOR=0.840	GT:AD:DP:GQ:PL	0/1:120,129:249:99:3160,0,2903	20	0	1	0
chr17	10529864	10529864	C	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon23:c.G2908A:p.V970I	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	4	1508	10	0	0	10	0.00330469	.	.	192930	not_specified|Myopathy,_proximal,_and_ophthalmoplegia|not_provided	MedGen:CN169374|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.947	P	0.78	P	0.003	U	1.000	D	2.415	M	-2.76	D	0.564	D	0.752	D	0.742	4.384	23.2	5.15	2.661	4.504	18.795	0.693	.	0.0042	0.00459265	0.0060	0.0015	0.0016	0	0.0062	0.0082	0.0077	0.0061	0.003842	100	26028	rs143872329	0.0076	0.0076	0.0077	0.0074	0.0086	0.0074	0.0074	0.0085	0.0084	0.0014	0.0018	0.0039	0	0.0057	0.0011	0.0086	0.0073	0.0058	0.0046	0.0046	0.0047	0.0046	0.0074	0.0043	0.0042	0.0069	0.0067	0.0012	0	0.0031	0.0029	0	0.0049	0	0.0074	0.0033	0.0062	0.002	0.72154	D	0.208	0.26883	T	0.947	0.53479	P	0.78	0.57283	P	0.003193	0.35300	U	0.000000	0.999992	0.81001	D	2.77	0.80896	M	-2.76	0.90848	D	-0.81	0.22294	N	0.764	0.79889	0.564	0.91425	D	0.752	0.91560	D	10	0.011111289	0.00244	T	.	.	.	0.693	0.88867	.	.	0.901784840647	0.90081	0.18940080383731528	0.18858	1.21672266413	0.80990	0.814571619034	0.84194	D	0.162033	0.50653	T	-0.0624664	0.42521	T	0.142622	0.79715	D	0.055827840425828	0.06496	T	0.90031	0.65351	D	0.37442148	0.58909	0.31558174	0.57543	0.4495973	0.64016	0.29864213	0.55897	-8.315	0.63196	D	0.2297006620248073	0.31074	0.362	0.58948	A	.;.	.;.	4.194224	0.63243	24.6	0.99765131451905331	0.85417	0.94322	0.60797	D	AEFBI	0.502784	0.53505	D	0.657507195869444	0.76855	6.564086	0.642565800272841	0.78058	6.80048	0.999999929498248	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	5.847000	0.69173	7.386000	0.58483	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.795	0.91956	440	0.80101	Myosin tail;Myosin tail	.	.	.	.	.	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	0.02381	3065.98	34	chr17	10529864	.	C	T	3065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.432;DP=1035;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.21;MQRankSum=1.20;QD=13.81;ReadPosRankSum=-3.390e-01;SOR=0.690	GT:AD:DP:GQ:PL	0/1:106,116:222:99:3080,0,2716	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	1/1:0,9,0:9:27:405,27,0,405,27,405	5	7	8	0
chr17	16772639	16772639	C	T	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_014695:exon17:c.C4181T:p.S1394L,	.	.	430	1011	77	4	0	85	0.0403417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.007	B	0.0	B	.	.	1.000	N	0	N	4.19	T	-0.914	T	0.004	T	0.129	1.038	9.238	-2.81	-0.529	-0.196	2.245	0.008	.	0.0003	.	0.0221	0.0015	0.0117	0	0	0.0057	0.0507	0.0858	0.0032535	503	154602	rs367741901	0.0034	0.0037	0.0023	0.0046	0.0363	0.0033	0.0033	0.0352	0.0348	0.0004	0.0016	0.0029	7.612e-05	0.0005	0.0229	0.0011	0.0046	0.0363	0.0022	0.0023	0.0016	0.0027	0.0376	0.0020	0.0019	0.0331	0.0314	0.0002	0	0.0010	0.0020	0.0002	0	0.0136	0.0017	0.0009	0.0376	0.941	0.02191	T	0.212	0.26549	T	0.007	0.14184	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.78	0.42001	N	0.051	0.02272	-0.9136	0.46403	T	0.004	0.01400	T	9	0.0036412776	0.00067	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.030174966776690806	0.02966	.	.	0.407027572393	0.26045	T	0.005443	0.04891	T	-0.701887	0.00036	T	-0.757303	0.03210	T	0.00600579891116739	0.00066	T	0.412159	0.10706	T	0.04079915	0.05892	0.038459543	0.03719	0.04079915	0.05892	0.038459543	0.03719	-3.464	0.15931	T	.	.	0.163	0.35931	B	.	.	0.381424	0.07531	4.182	0.97350647096782417	0.33520	0.00046	0.00367	N	AEFI	0.015492	0.00298	N	-1.38850593164188	0.02745	0.1216496	-1.48591277293548	0.02459	0.1131521	3.09531586246284E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.41	-2.81	0.05459	-0.322000	0.08049	-3.381000	0.02830	0.273000	0.18552	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.3117:0.4533	2.245	0.03782	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025	709.33	38	chr17	16772639	.	C	T	709.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.59;DP=765;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=34.97;MQRankSum=-1.580e+00;QD=7.16;ReadPosRankSum=0.884;SOR=0.553	GT:AD:DP:GQ:PL	0/1:63,36:99:99:723,0,1295	19	0	1	1
chr17	18727657	18727657	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.G100A:p.G34S	.	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.718	P	0.237	B	0.000	U	0.998	N	0.55	N	-0.25	T	-0.986	T	0.129	T	0.284	0.834	8.366	1.11	0.655	2.127	7.425	0.100	0.0191105825696	0.0014	0.000599042	0.0016	9.61e-05	0.0009	0	0	0.0024	0.0011	0.0016	0.0013713	212	154602	rs145703700	0.0011	0.0011	0.0010	0.0012	0.0097	0.0011	0.0011	0.0077	0.0070	0.0004	0.0011	0.0081	0	3.744e-05	0.0097	0.0010	0.0021	0.0012	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0081	0	0	0.0034	0.0011	0.0014	0.0015	0.241	0.17643	T	0.512	0.10750	T	0.363	0.33965	B	0.071	0.27960	B	0.000064	0.52346	U	0.074077	0.99804	0.22380	N	0.975	0.24501	L	-0.25	0.67011	T	-2.11	0.48020	N	0.17	0.18103	-0.9863	0.33518	T	0.129	0.43747	T	10	0.008188307	0.00186	T	0.019111	0.41382	T	0.100	0.28662	.	.	0.365317461125	0.36143	0.2914576785952377	0.29058	.	.	0.622469604015	0.56078	T	0.128539	0.45626	T	-0.412395	0.01916	T	-0.378383	0.35912	T	0.0188325385854021	0.00594	T	0.809319	0.45944	T	0.062322527	0.13004	0.0869104	0.20166	0.062322527	0.13004	0.0869104	0.20166	-7.11	0.54832	T	.	.	0.146	0.32104	B	.	.	1.351926	0.17595	13.26	0.9716505428971336	0.32647	0.69389	0.34168	D	AEFDBHI	0.162815	0.28903	N	-0.514735915253303	0.21602	1.147684	-0.519597891989364	0.21622	1.170524	0.0396920521486324	0.14405	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	1.11	0.19640	1.737000	0.37821	0.688000	0.20738	0.217000	0.18040	0.981000	0.35396	0.110000	0.22784	0.035000	0.13729	0.246:0.0:0.754:0.0	7.425	0.26266	788	0.46569	.	.	.	.	.	.	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	2766.98	50	chr17	18727657	.	G	A	2766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=914;ExcessHet=0.0000;FS=10.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.13;MQRankSum=-1.905e+00;QD=13.83;ReadPosRankSum=0.287;SOR=0.704	GT:AD:DP:GQ:PL	0/1:96,104:200:99:2781,0,2142	20	0	1	0
chr17	18766830	18766830	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon9:c.G1672A:p.V558M	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	0.742	D	2.265	M	1.95	T	-0.801	T	0.117	T	0.553	1.247	10.06	3.09	1.570	3.322	8.097	0.211	0.0474623074376	0.0008	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	0.0009	5.17e-05	8	154602	rs144460161	0.0005	0.0005	0.0005	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0001	0.0002	0.0026	0	0	0.0042	0.0005	0.0006	0.0005	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0004	4.814e-05	0	0.0001	0.0037	0	0	0	0.0006	0	0.0008	0.002	0.72154	D	0.0	0.92824	D	0.999	0.90584	D	0.994	0.92359	D	0.000092	0.51296	U	0.074181	0.741745	0.33830	D	3.025	0.86340	M	1.95	0.22474	T	-2.05	0.50830	N	0.711	0.71410	-0.8013	0.55068	T	0.117	0.41253	T	10	0.06300336	0.08141	T	0.047462	0.62934	D	0.211	0.50185	.	.	0.0482279557977	0.04254	0.4711091959580471	0.47029	.	.	0.572771668434	0.49068	T	0.034284	0.23258	T	-0.318372	0.07031	T	-0.30551	0.44139	T	0.164022716940132	0.18164	T	0.841416	0.52967	T	0.17232391	0.37917	0.22916025	0.47980	0.17232391	0.37917	0.22916025	0.47979	-10.476	0.77874	D	.	.	0.463	0.75957	A	.;.;.	.;.;.	4.246259	0.64416	24.7	0.99812249358135352	0.89620	0.67168	0.33335	D	AEFGI	0.283029	0.39623	N	0.298219438259982	0.56058	3.770106	0.146726655066066	0.46969	2.934333	2.22675550138803E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.09	3.09	0.34677	3.952000	0.56399	9.896000	0.82311	0.254000	0.18348	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.0:0.2513:0.7487:0.0	8.097	0.29994	735	0.53711	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	1514.98	33	chr17	18766830	.	G	A	1514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=816;ExcessHet=0.0000;FS=4.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=45.00;MQRankSum=2.38;QD=11.84;ReadPosRankSum=-1.293e+00;SOR=1.140	GT:AD:DP:GQ:PL	0/1:74,54:128:99:1529,0,1969	20	0	1	0
chr17	27647416	27647416	G	A	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_002308:exon9:c.G809A:p.R270H	.	.	430	1089	2	1	0	4	0.00183318	.	.	704044	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.842	P	0.008	N	1.000	N	2.26	M	3.35	T	-1.100	T	0.013	T	0.418	3.970	20.3	0.236	0.197	-0.307	4.721	0.061	.	0.0006	0.00579073	0.0040	0.0004	0.0331	0.0066	0	0.0003	0.0022	0.0010	0.0039391	609	154602	rs142653327	0.0015	0.0015	0.0016	0.0013	0.0305	0.0014	0.0014	0.0291	0.0286	0.0005	0.0305	0.0024	0.0098	0.0001	0.0019	0.0001	0.0014	0.0010	0.0041	0.0041	0.0031	0.0052	0.0335	0.0038	0.0037	0.0311	0.0302	0.0004	0	0.0335	0.0035	0.0108	9.429e-05	0	0.0002	0.0033	0.0010	0.01	0.56456	D	0.071	0.43531	T	0.999	0.77913	D	0.842	0.60272	P	0.007997	0.31082	N	0.236862	1	0.08975	N	2.345	0.67358	M	3.35	0.05989	T	-3.06	0.63090	D	0.363	0.45709	-1.0997	0.04128	T	0.013	0.04843	T	10	0.012150496	0.00262	T	.	.	.	0.061	0.17616	.	.	0.429552544315	0.42571	0.41644992206007625	0.41560	0.521965020797	0.49944	0.291941046715	0.09205	T	0.183272	0.53556	T	-0.525508	0.00408	T	-0.503257	0.22011	T	0.0365202561198691	0.03072	T	0.892111	0.62800	D	0.16081491	0.36048	0.098206066	0.23405	0.16081491	0.36048	0.098206066	0.23405	-7.821	0.59844	D	.	.	0.171	0.39168	B	.;.	.;.	1.802147	0.22907	15.81	0.99641057971214242	0.76695	0.05534	0.11427	N	AEFDBI	0.095333	0.19263	N	-0.396452422528355	0.25595	1.390574	-0.616004556071463	0.19082	1.022246	0.445178033432439	0.20489	0.706548	0.73137	0	0.702456	0.74545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.69	0.236	0.14733	-0.445000	0.06918	-1.022000	0.06576	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.2663:0.2979:0.4358:0.0	4.721	0.12296	256	0.89942	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1830.98	38	chr17	27647416	.	G	A	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.288;DP=920;ExcessHet=0.0000;FS=1.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-1.400e-02;SOR=0.575	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1845,0,1570	20	0	1	0
chr17	30082990	30082990	A	G	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_198529:exon18:c.A3526G:p.T1176A,	.	.	423	1095	3	1	0	5	0.0022779	.	.	3201942	EFCAB5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.323	B	0.116	B	0.269	N	1.000	N	1.255	L	3.0	T	-0.993	T	0.015	T	0.066	1.026	9.190	-0.633	0.047	-0.084	10.194	0.011	0.00925671261981	0.0009	0.000798722	0.0011	0.0003	0.0012	0	0	0.0017	0.0022	0.0004	0.0011255	174	154602	rs193065340	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0018	0.0033	0	7.49e-05	0.0023	0.0016	0.0015	0.0004	0.0012	0.0012	0.0014	0.0010	0.0027	0.0011	0.0010	0.0020	0.0018	0.0003	0	0.0027	0.0035	0	9.414e-05	0.0068	0.0016	0.0038	0.0004	0.263	0.17643	T	0.244	0.26798	T	0.323	0.33082	B	0.116	0.31939	B	0.268895	0.15167	N	0.616362	1	0.08975	N	1.405	0.35469	L	2.98	0.09356	T	-1.52	0.36980	N	0.064	0.03613	-0.9925	0.31959	T	0.015	0.06042	T	10	0.004950762	0.00106	T	0.009257	0.24319	T	0.011	0.01250	.	.	0.0762999501168	0.06990	0.14925080201816163	0.14847	0.186280126932	0.20939	0.359834998846	0.19362	T	0.004422	0.03828	T	-0.684859	0.00045	T	-0.781156	0.02419	T	0.00152499983924638	0.00015	T	0.493751	0.15636	T	0.07692171	0.17426	0.09337903	0.22053	0.07692171	0.17426	0.09337903	0.22052	-2.17	0.03897	T	.	.	0.104	0.18950	B	.;.	.;.	0.100866	0.05025	1.575	0.71712959979094126	0.09723	0.01538	0.05055	N	AEFBI	0.040916	0.06150	N	-0.895973761068404	0.10937	0.525223	-0.967789574546086	0.10514	0.5299875	2.61907546696961E-4	0.06244	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.32	-0.633	0.10941	-0.077000	0.11356	0.593000	0.19842	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.5469:0.0:0.4531:0.0	10.194	0.42217	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	1290.98	36	chr17	30082990	.	A	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.315e+00;DP=802;ExcessHet=0.0000;FS=0.717;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-7.650e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1305,0,1142	20	0	1	0
chr17	32780675	32780675	G	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon2:c.C205T:p.R69C	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.002	U	1.000	D	2.975	M	-2.35	D	0.732	D	0.816	D	0.805	2.954	15.85	3.35	1.149	2.289	9.599	0.676	0.216837336712	.	.	8.238e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs772579154	7.525e-06	7.524e-06	4.084e-06	1.1e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	0	0	0.0003	1.799e-06	4.967e-05	2.319e-05	2.631e-05	2.628e-05	1.286e-05	4.04e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001769	0.38052	U	0.000000	0.997148	0.81001	D	2.94	0.84723	M	-2.35	0.88066	D	-7.78	0.95870	D	0.787	0.78641	0.732	0.93569	D	0.816	0.93787	D	10	0.83986044	0.83140	D	0.216837	0.87579	D	0.676	0.88061	0.6	0.73105	0.894726152564	0.89368	0.7463535746699779	0.74581	1.12430380814	0.78398	0.828683197498	0.86361	D	0.634682	0.88722	D	0.211575	0.74979	D	0.162991	0.80990	D	0.96653151512146	0.67614	D	0.959404	0.85375	D	0.7000557	0.78059	0.44179094	0.67451	0.7000557	0.78061	0.44179094	0.67451	-10.62	0.77533	D	.	.	0.468	0.72148	A	.;.;.	.;.;.	5.897301	0.93986	33	0.99815214924015816	0.89885	0.78987	0.39058	D	AEFBI	0.513242	0.54112	D	0.251300212029414	0.53702	3.538085	0.0941751905598613	0.44256	2.71082	0.998089848149537	0.36406	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	4.34	3.35	0.37468	2.012000	0.40551	9.700000	0.81300	-0.242000	0.07441	0.985000	0.35982	1.000000	0.68203	0.972000	0.54974	0.0:0.0:0.619:0.381	9.599	0.38754	944	0.12746	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2160.98	47	chr17	32780675	.	G	A	2160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=906;ExcessHet=0.0000;FS=4.816;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=1.39;SOR=0.397	GT:AD:DP:GQ:PL	0/1:67,89:156:99:2175,0,1375	20	0	1	0
chr17	36166399	36166399	A	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon13:c.T1246A:p.C416S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.988	D	0.85	P	0.802	U	1.000	N	0.69	N	2.8	T	-0.994	T	0.030	T	0.137	1.369	10.50	.	0.149	0.201	.	0.038	0.0015353693878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.10607	T	0.988	0.62325	D	0.85	0.60657	P	0.801502	0.06772	U	1.270350	1	0.08975	N	0.895	0.22405	L	.	.	.	.	.	.	0.148	0.15046	-0.9944	0.31459	T	0.030	0.12848	T	8	0.13534811	0.25756	T	0.001535	0.02394	T	.	.	0.248	0.18447	0.043077524339	0.03247	0.022145393314928437	0.02166	.	.	0.504786014557	0.39495	T	0.016243	0.13465	T	-0.21833	0.18221	T	-0.551393	0.17192	T	0.154437720775604	0.17451	T	0.517348	0.16736	T	0.16471702	0.36697	0.24097952	0.49484	0.16471702	0.36697	0.24097952	0.49483	-2.185	0.03968	T	.	.	0.128	0.27192	B	.	.	1.381488	0.17928	13.45	0.79400152207908592	0.12724	0.00229	0.01284	N	AEFI	0.048057	0.08159	N	-0.762980539075014	0.14283	0.7102272	-1.01857566505615	0.09377	0.4661617	1.66154086287155E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.199000	0.17037	1.014000	0.23354	0.279000	0.18609	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	.	.	.	882	0.29131	.	.	.	.	.	.	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	410.39	24	chr17	36166399	.	A	T	410.39	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.295e+00;DP=386;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0294;MLEAC=1;MLEAF=0.025;MQ=28.63;MQRankSum=1.38;QD=12.44;ReadPosRankSum=-1.658e+00;SOR=0.668	GT:AD:DP:GQ:PL	0/1:14,19:33:99:424,0,285	19	0	1	1
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	0/1:43,53:96:99:528,0,413	0	0	21	0
chr17	38764133	38764133	T	C	exonic	PSMB3	.	nonsynonymous SNV	PSMB3:NM_002795:exon6:c.T584C:p.I195T,	.	.	437	1074	10	1	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.044	B	0.163	B	0.000	D	1.000	D	1.73	L	0.93	T	-0.942	T	0.129	T	0.86	3.162	16.58	5.34	2.032	8.024	12.687	0.417	0.0171098515087	0.0003	0.000399361	0.0011	9.735e-05	0	0.0001	0	0.0003	0.0033	0.0066	0.0008797	136	154602	rs200486857	0.0006	0.0006	0.0004	0.0008	0.0066	0.0006	0.0006	0.0061	0.0060	0	6.708e-05	0.0005	0	1.872e-05	0.0040	0.0002	0.0009	0.0066	0.0004	0.0004	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0039	4.81e-05	0	0.0001	0.0009	0	0	0.0068	0.0002	0.0005	0.0062	.	.	.	0.09	0.40267	T	0.044	0.21686	B	0.163	0.34892	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.7	0.43825	L	.	.	.	.	.	.	0.837	0.83269	-0.9418	0.42330	T	0.129	0.43787	T	10	0.013218582	0.00281	T	0.01711	0.38673	T	.	.	.	.	0.311889312631	0.30795	0.9525385428532421	0.95237	.	.	0.859771370888	0.91077	D	0.345501	0.71388	T	0.0375635	0.56725	T	0.284767	0.87381	D	0.0470832311135717	0.04980	T	.	.	.	0.7744769	0.82317	0.40355882	0.64807	0.7744769	0.82319	0.40355882	0.64807	-7.633	0.58541	D	.	.	0.565	0.67416	P	.	.	4.857765	0.79462	27.1	0.99345137566987585	0.60331	0.97582	0.75697	D	AEFBCI	0.945944	0.95484	D	0.184895578582469	0.50474	3.237045	0.334079985156535	0.57554	3.92151	0.992659031619117	0.32919	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	8.001000	0.88013	7.776000	0.68567	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.687	0.56316	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1426.98	34	chr17	38764133	.	T	C	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.099e+00;DP=805;ExcessHet=0.0000;FS=2.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=1.56;SOR=0.441	GT:AD:DP:GQ:PL	0/1:41,60:101:99:1441,0,953	20	0	1	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,58,0:58:99:2445,168,0,2452,175,2459	6	11	3	0
chr17	41460144	41460144	A	G	exonic	KRT32	.	nonsynonymous SNV	KRT32:NM_002278:exon7:c.T1313C:p.M438T,	.	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.951	N	1.000	N	0	N	-2.13	D	-0.758	T	0.335	T	0.185	-0.620	1.246	2.27	1.579	1.390	6.238	0.130	0.0117644185661	0.0010	0.000399361	0.0010	0.0001	8.834e-05	0	0.0003	0.0011	0	0.0028	0.0009896	153	154602	rs147160974	0.0015	0.0015	0.0014	0.0016	0.0026	0.0015	0.0015	0.0024	0.0022	0.0003	0.0003	0.0002	0	0.0002	0.0002	0.0017	0.0010	0.0026	0.0011	0.0011	0.0010	0.0012	0.0025	0.0009	0.0009	0.0016	0.0015	0.0003	0	0.0002	0	0.0002	0.0005	0	0.0019	0	0.0025	0.573	0.06125	T	0.599	0.07972	T	0.0	0.02946	B	0.0	0.01387	B	0.951284	0.07658	N	1.038910	1	0.08975	N	-0.695	0.01866	N	-2.13	0.86349	D	0.2	0.04861	N	0.136	0.13341	-0.7585	0.57487	T	0.335	0.70223	T	10	0.0135475695	0.00287	T	0.011764	0.29704	T	0.130	0.35528	.	.	0.79791122597	0.79602	0.27333614023738456	0.27246	0.135504829808	0.15275	0.45583114028	0.32741	T	0.008497	0.07800	T	-0.422324	0.01654	T	-0.384343	0.35214	T	0.00562101412964538	0.00061	T	0.0512949	0.00367	T	0.12623715	0.29573	0.11223341	0.27078	0.12623715	0.29572	0.11223341	0.27077	-1.021	0.01023	T	.	.	0.117	0.23848	B	.	.	0.431376	0.08017	4.736	0.2485591400072116	0.01119	0.17074	0.19677	N	AEFBI	0.033137	0.03873	N	-0.949008450446035	0.09715	0.4610085	-0.913061346289318	0.11786	0.6025275	0.00128060384121459	0.08400	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.48	2.27	0.27501	0.930000	0.28458	3.523000	0.38910	0.731000	0.85647	0.014000	0.18986	0.042000	0.21616	0.006000	0.07323	0.7404:0.2596:0.0:0.0	6.238	0.19987	444	0.79803	.	.	.	.	.	.	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	1212.98	36	chr17	41460144	.	A	G	1212.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.125e+00;DP=1006;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-8.210e-01;SOR=0.832	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1227,0,1498	20	0	1	0
chr17	41524943	41524943	C	T	exonic	KRT19	.	nonsynonymous SNV	KRT19:NM_002276:exon3:c.G560A:p.R187H,	.	.	0	1513	9	0	0	9	0.0029654	.	.	969964	Hereditary_breast_ovarian_cancer_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.994	D	0.828	P	0.000	D	1.000	D	2.33	M	-3.03	D	0.752	D	0.818	D	0.432	4.259	22.2	4.43	2.530	2.698	13.521	0.678	0.093389797205	0.0023	0.00159744	0.0020	0.0004	0.0010	0	0.0003	0.0026	0.0022	0.0032	0.0020828	322	154602	rs117671585	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0035	0.0034	0.0007	0.0018	0.0003	2.519e-05	0.0003	0.0007	0.0036	0.0027	0.0031	0.0022	0.0022	0.0022	0.0021	0.0035	0.0020	0.0019	0.0032	0.0030	0.0008	0	0.0021	0	0.0002	0.0006	0	0.0035	0.0024	0.0027	0.013	0.91255	D	0.052	0.47581	T	0.994	0.66517	D	0.828	0.59497	P	0.000207	0.47681	D	0.000000	0.999591	0.47742	D	2.57	0.75187	M	-3.03	0.92307	D	-4.57	0.81431	D	0.497	0.53006	0.752	0.93815	D	0.818	0.93862	D	10	0.02200064	0.00539	T	0.09339	0.76064	D	0.678	0.88157	.	.	0.958064169932	0.95761	0.6835932005572422	0.68298	1.5315103387	0.87593	.	.	.	0.929034	0.98786	D	-0.179608	0.23794	T	-0.0270447	0.68564	D	0.0543239168897838	0.06244	T	0.775922	0.40781	T	0.26933628	0.50006	0.17523779	0.39976	0.26933628	0.50006	0.17523779	0.39975	-8.772	0.66217	D	.	.	0.178	0.54448	B	.;.;.	.;.;.	5.064129	0.84424	28.3	0.99941585164003599	0.99797	0.80013	0.39767	D	AEFDBHCI	0.490926	0.52820	N	0.378808029954865	0.60276	4.214712	0.38453617596374	0.60611	4.25063	0.999961827757597	0.48965	0.706298	0.61202	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.4	4.43	0.52967	2.709000	0.46828	7.609000	0.61840	0.599000	0.40250	0.971000	0.34370	1.000000	0.68203	0.954000	0.50415	0.0:0.9248:0.0:0.0752	13.521	0.61023	406	0.82375	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2421.98	83	chr17	41524943	.	C	T	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.506;DP=1702;ExcessHet=0.0000;FS=1.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-8.850e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/1:108,102:210:99:2436,0,2515	20	0	1	0
chr17	44350237	44350237	C	A	exonic	GRN	.	nonsynonymous SNV	GRN:NM_002087:exon5:c.C359A:p.S120Y,	Aphasia, primary progressive, Autosomal dominant;Ceroid lipofuscinosis, neuronal, 11, Autosomal recessive;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Autosomal dominant	.	0	1499	22	1	0	24	0.00794176	.	.	104027	not_provided|GRN-related_frontotemporal_lobar_degeneration_with_Tdp43_inclusions|Inborn_genetic_diseases|Neuronal_ceroid_lipofuscinosis_11	MedGen:C3661900|MONDO:MONDO:0011842,MedGen:C1843792,OMIM:607485,Orphanet:100070,Orphanet:282|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013866,MedGen:C3539123,OMIM:614706,Orphanet:314629,Orphanet:79262	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.744	P	0.252	B	0.021	N	1.000	N	1.83	L	-0.48	T	-0.769	T	0.277	T	0.27	1.691	11.61	-1.23	-0.106	-0.927	7.481	0.020	0.10250206622	0.0002	.	0.0008	0	0.0009	0	0	0.0005	0.0044	0.0033	0.0006921	107	154602	rs63750043	0.0007	0.0007	0.0005	0.0008	0.0141	0.0006	0.0006	0.0116	0.0107	0.0004	0.0016	0.0021	2.52e-05	9.362e-05	0.0141	0.0003	0.0014	0.0033	0.0008	0.0008	0.0007	0.0008	0.0031	0.0006	0.0006	0.0024	0.0022	7.223e-05	0	0.0031	0.0023	0	0	0.0204	0.0006	0.0009	0.0015	0.156	0.24090	T	0.113	0.46862	T	0.744	0.43069	P	0.252	0.39069	B	0.021054	0.01544	N	2.551290	1	0.08975	N	1.975	0.53506	M	-0.48	0.73417	T	-1.17	0.29933	N	0.293	0.35194	-0.7693	0.56896	T	0.277	0.64865	T	10	0.0062176883	0.00140	T	0.102502	0.77600	D	0.145	0.38592	.	.	0.857881563427	0.85651	0.2792761382427879	0.27840	0.463953477707	0.45884	0.249592423439	0.03724	T	0.206937	0.56642	T	-0.424986	0.01590	T	-0.385975	0.35022	T	0.00771268445903143	0.00090	T	0.726827	0.34608	T	0.051580228	0.09493	0.05380251	0.09132	0.03801147	0.04983	0.052819293	0.08778	-7.322	0.57413	T	.	.	0.101	0.28948	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.174937	0.05632	2.085	0.83523310676695262	0.14773	0.05622	0.11530	N	AEFDBI	0.596953	0.59092	D	-0.652651513790647	0.17383	0.8940387	-0.841620105932744	0.13489	0.7000154	0.999659791961204	0.41424	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-1.23	0.08977	-0.172000	0.09858	-0.917000	0.06933	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5202:0.0:0.4798	7.481	0.26577	501	0.75956	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1711.98	74	chr17	44350237	.	C	A	1711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.720;DP=1325;ExcessHet=0.0000;FS=0.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-5.670e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:92,72:164:99:1726,0,2201	20	0	1	0
chr17	45115378	45115378	T	C	exonic	PLCD3	.	nonsynonymous SNV	PLCD3:NM_133373:exon9:c.A1526G:p.E509G,	.	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.001	B	0.137	N	1.000	N	.	.	-0.03	T	-1.048	T	0.111	T	0.234	0.694	7.704	1.95	0.550	2.009	4.630	0.050	0.00607007113588	0.0013	0.000998403	0.0034	0.0009	0.0007	0	0	0.0054	0.0029	0.0021	0.0001921	5	26028	rs201091708	0.0020	0.0020	0.0020	0.0020	0.0025	0.0019	0.0019	0.0023	0.0022	0.0004	0.0009	0.0001	0	0.0002	0.0025	0.0024	0.0016	0.0013	0.0016	0.0016	0.0017	0.0015	0.0028	0.0015	0.0014	0.0025	0.0024	0.0005	0	0.0017	0	0.0002	0	0	0.0028	0.0010	0.0013	.	.	.	0.128	0.34959	T	0.001	0.07471	B	0.001	0.04355	B	0.136918	0.18430	N	0.554792	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.276	0.31253	-1.0483	0.14875	T	0.111	0.39982	T	9	0.004010886	0.00078	T	0.00607	0.15875	T	.	.	.	.	0.33085137897	0.32697	0.28596511527058166	0.28509	.	.	0.414021372795	0.27013	T	0.169042	0.51627	T	-0.492702	0.00628	T	-0.478175	0.24641	T	0.0012408485801334	0.00012	T	0.375062	0.08943	T	0.10462618	0.24735	0.08688255	0.20157	0.10462618	0.24735	0.08688255	0.20157	-6.516	0.50410	T	.	.	0.068	0.02797	B	.	.	1.607074	0.20540	14.80	0.93778404646514868	0.23735	0.50954	0.28783	D	AEFBI	0.225374	0.34947	N	-0.761437026362282	0.14324	0.7126234	-0.793559396281998	0.14652	0.7667219	0.992846858212306	0.32989	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.03	1.95	0.25130	0.993000	0.29281	1.450000	0.26598	0.665000	0.62972	0.001000	0.13787	0.983000	0.30585	0.080000	0.17246	0.0:0.1151:0.1945:0.6904	4.630	0.11881	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	918.11	29	chr17	45115378	.	T	C	918.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.388e+00;DP=742;ExcessHet=0.1072;FS=3.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-8.360e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:19,20:39:99:504,0,534	19	0	2	0
chr17	46546292	46546292	T	C	exonic	LRRC37A2	.	nonsynonymous SNV	LRRC37A2:NM_001006607:exon8:c.T3091C:p.F1031L,	.	.	.	.	.	.	.	.	.	.	.	2344130	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.819	P	0.334	B	.	.	1.000	D	1.78	L	0.16	T	-0.917	T	0.155	T	0.143	2.278	13.57	2.58	0.505	0.064	5.522	0.089	.	.	.	0.0018	0.0115	0	0	0	0.0009	0	0	3.84e-05	1	26028	rs774129178	0.0008	0.0011	0.0007	0.0008	0.0049	0.0007	0.0007	0.0040	0.0037	0.0049	0.0007	0.0009	2.791e-05	0.0004	0.0017	0.0008	0.0008	0.0002	0.0018	0.0037	0.0020	0.0015	0.0038	0.0016	0.0015	0.0032	0.0030	0.0038	0	0.0006	0.0009	0	0.0004	0	0.0015	0.0029	0	0.041	0.41915	D	0.059	0.45961	T	0.819	0.45682	P	0.334	0.42203	B	.	.	.	.	1	0.81001	D	3.045	0.86684	M	0.16	0.60610	T	-4.32	0.76655	D	0.32	0.36989	-0.9166	0.46011	T	0.155	0.48602	T	9	0.009926349	0.00223	T	.	.	.	0.089	0.25827	0.428	0.47515	0.0920862733494	0.08535	0.059049080324874124	0.05845	.	.	0.732844948769	0.71921	T	0.096632	0.39864	T	-0.143624	0.29313	T	-0.444082	0.28352	T	0.12260310872478	0.14682	T	0.50325	0.15827	T	0.18356757	0.39630	0.18671939	0.41861	0.18356757	0.39630	0.18671939	0.41861	-6.654	0.51463	T	.	.	0.924	0.84558	P	.;.	.;.	2.073404	0.26367	17.09	0.99337715874022514	0.60051	0.23021	0.21940	N	AEI	0.056972	0.10574	N	-0.0927762467073318	0.37709	2.197771	-0.122267480445044	0.34493	1.984773	3.34547151443304E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.66	2.58	0.30011	-0.043000	0.11996	0.511000	0.19080	-0.496000	0.05032	0.822000	0.30018	0.091000	0.22535	0.120000	0.19168	0.0:0.1309:0.0:0.8691	5.522	0.16226	414	0.81871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	39.99	11	chr17	46546292	.	T	C	39.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.020e-01;DP=333;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0250;MLEAC=1;MLEAF=0.024;MQ=26.31;MQRankSum=-3.326e+00;QD=1.90;ReadPosRankSum=0.538;SOR=0.074	GT:AD:DP:GQ:PL	0/1:17,4:21:54:54,0,449	20	0	1	0
chr17	47709268	47709268	T	A	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon8:c.T1535A:p.I512N,	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.92	P	0.523	P	0.158	N	0.561	N	0.55	N	.	.	-1.020	T	0.055	T	0.234	3.557	18.14	1.51	0.445	0.479	3.154	0.048	0.0577726133886	.	.	8.3e-05	0	0	0	0	0.0003	0	0	6.5e-06	1	154602	rs775650650	1.021e-05	1.095e-05	7.2e-06	1.329e-05	1.301e-05	5.92e-06	4.63e-06	7.55e-06	5.91e-06	0	0	0	0	0	0	1.301e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.347	0.17640	T	0.92	0.51019	P	0.523	0.48316	P	0.157729	0.17761	N	0.518590	0.561085	0.31256	N	1.525	0.38595	L	.	.	.	-2.11	0.48020	N	0.417	0.45709	-1.0199	0.23747	T	0.055	0.23110	T	9	0.19258901	0.34994	T	0.057773	0.67084	D	0.048	0.13305	0.321	0.30064	0.611931882649	0.60880	0.2996066744678659	0.29873	0.670822488128	0.59432	0.950155496597	0.99754	D	0.028712	0.20737	T	-0.0940495	0.37406	T	-0.372872	0.36554	T	0.248464803750847	0.22804	T	0.583442	0.21195	T	0.35893658	0.57755	0.17780565	0.40407	0.35893658	0.57755	0.17780565	0.40407	-3.844	0.21463	T	.	.	0.412	0.60215	A	.	.	3.256954	0.44521	22.0	0.98953783053908217	0.49189	0.55280	0.29824	D	AEFDBI	0.079897	0.16145	N	-0.0664583012107794	0.38869	2.283316	-0.0624478145588277	0.36957	2.157483	0.998977548699337	0.38110	0.72623	0.87236	0	0.547309	0.14657	0	0.594344	0.31042	0	0.635551	0.53088	0	.	.	3.86	1.51	0.22094	1.244000	0.32381	4.723000	0.44515	0.578000	0.29377	0.122000	0.23210	1.000000	0.68203	0.995000	0.73285	0.1901:0.1859:0.0:0.624	3.154	0.06110	415	0.81806	.	.	.	.	.	.	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	1094.98	33	chr17	47709268	.	T	A	1094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.418e+00;DP=790;ExcessHet=0.0000;FS=11.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.64;ReadPosRankSum=-1.683e+00;SOR=0.466	GT:AD:DP:GQ:PL	0/1:24,46:70:99:1109,0,572	20	0	1	0
chr17	47839462	47839471	CCCAGAGCCT	-	exonic	SCRN2	.	frameshift deletion	SCRN2:NM_001145023:exon4:c.529_538del:p.R177Lfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	903.94	33	chr17	47839461	.	GCCCAGAGCCT	G	903.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.33;DP=708;ExcessHet=0.0000;FS=4.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.74;ReadPosRankSum=0.718;SOR=1.295	GT:AD:DP:GQ:PL	0/1:30,24:54:99:918,0,1187	20	0	1	0
chr17	50149421	50149421	C	G	exonic	PPP1R9B	.	nonsynonymous SNV	PPP1R9B:NM_032595:exon1:c.G1093C:p.G365R,	.	.	419	1083	18	2	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0035	0.0006	0.0013	0	0	0.0027	0.0081	0.0118	0.0027167	420	154602	rs200456485	0.0035	0.0035	0.0033	0.0037	0.0101	0.0034	0.0034	0.0095	0.0093	0.0004	0.0012	0.0115	7.565e-05	0.0002	0.0096	0.0032	0.0039	0.0101	0.0023	0.0023	0.0023	0.0024	0.0114	0.0021	0.0021	0.0090	0.0081	0.0005	0	0.0008	0.0121	0	0.0002	0.0034	0.0032	0.0024	0.0114	.	.	.	0.526	0.10245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	0.0042975843	0.00086	T	.	.	.	.	.	.	.	0.487027601959	0.48335	0.12154678572625668	0.12081	.	.	0.605843245983	0.53729	T	0.009803	0.08903	T	-0.549959	0.00292	T	-0.55336	0.17005	T	.	.	.	0.561144	0.19645	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32104	B	.	.	2.602806	0.33792	19.44	0.9130820026508909	0.20568	0.07204	0.13229	N	AEFDBHCI	0.162836	0.28905	N	.	.	.	.	.	.	0.999999632666516	0.74766	0.206829	0.04106	0	0.098	0.03038	0	0.209056	0.04548	0	0.185629	0.04193	2	.	.	4.8	2.68	0.30839	1.359000	0.33717	3.870000	0.40183	0.597000	0.34315	0.003000	0.16062	0.919000	0.28284	0.994000	0.71098	0.2886:0.6226:0.0:0.0888	6.908	0.23501	831	0.39019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	761.98	37	chr17	50149421	.	C	G	761.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.553e+00;DP=776;ExcessHet=0.0000;FS=3.235;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=-2.300e-02;SOR=0.399	GT:AD:DP:GQ:PL	0/1:37,34:71:99:776,0,1061	20	0	1	0
chr17	50194035	50194035	C	T	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon25:c.G1675A:p.A559T,	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	928380	not_provided|Osteogenesis_imperfecta_type_I|Osteogenesis_imperfecta	MedGen:C3661900|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.286	B	0.055	B	0.000	D	0.943	D	0.655	N	-3.25	D	0.196	D	0.599	D	0.302	3.033	16.12	4.43	2.309	0.089	11.940	0.266	0.0936718259648	.	0.000199681	9.096e-05	0	0.0002	0.0002	0	4.513e-05	0.0011	0.0002	7.76e-05	12	154602	rs558173513	4.31e-05	4.378e-05	3.268e-05	5.364e-05	0.0004	3.443e-05	3.129e-05	0.0003	0.0002	0	0.0001	0	2.519e-05	1.874e-05	0	1.979e-05	3.312e-05	0.0004	3.291e-05	3.283e-05	3.863e-05	2.693e-05	0.0004	1.263e-05	7.99e-06	7.336e-05	3.046e-05	0	0	0	0	0	0	0	4.415e-05	0	0.0004	0.093	0.31532	T	0.138	0.33780	T	.	.	.	.	.	.	0.000353	0.45440	D	0.144604	0.943049	0.37395	D	.	.	.	-3.25	0.93532	D	-0.53	0.16393	N	0.395	0.43610	0.196	0.85834	D	0.599	0.85714	D	10	0.24123016	0.41298	T	0.093672	0.76114	D	0.266	0.57999	.	.	0.81603122072	0.81430	0.31138757411467466	0.31051	0.542875702707	0.51379	0.558515846729	0.47059	T	.	.	.	-0.171105	0.25066	T	-0.179009	0.56615	T	0.0573618779548829	0.06747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.	.	3.013582	0.40311	21.1	0.99480517148150827	0.66850	0.54616	0.29659	D	AEFDGBCI	0.597346	0.59116	D	-0.318468725450627	0.28447	1.569102	-0.228953909060705	0.30503	1.718052	0.999999765424401	0.74766	0.706548	0.73137	0	0.491513	0.07743	0	0.724815	0.87919	0	0.633917	0.49826	0	.	.	4.43	4.43	0.52967	0.281000	0.18568	1.623000	0.27698	0.599000	0.40250	0.288000	0.25215	0.894000	0.27871	0.386000	0.26469	0.0:0.8239:0.1761:0.0	11.940	0.52179	889	0.27310	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1338.98	41	chr17	50194035	.	C	T	1338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=827;ExcessHet=0.0000;FS=3.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-6.640e-01;SOR=0.710	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1353,0,1293	20	0	1	0
chr17	56442921	56442921	G	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon9:c.G1096T:p.A366S	.	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.96	D	0.000	N	1.000	D	2.295	M	1.4	T	-0.660	T	0.243	T	0.636	4.790	27.0	5.72	2.684	8.209	19.880	0.232	0.0373931444775	0.0005	0.000399361	0.0008	9.711e-05	0.0003	0.0001	0.0002	0.0009	0.0011	0.0019	0.0007568	117	154602	rs138216458	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0022	0.0019	2.989e-05	0.0004	0.0041	2.52e-05	3.747e-05	0.0033	0.0005	0.0009	0.0022	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.22e-05	0	0.0004	0.0049	0	0	0.0034	0.0004	0	0.0017	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000011	0.62929	N	0.148766	0.999998	0.58761	D	3.115	0.87836	M	1.4	0.33630	T	-2.4	0.52776	N	0.736	0.73645	-0.6599	0.62280	T	0.243	0.61119	T	10	0.014914453	0.00313	T	0.037393	0.57590	D	0.232	0.53354	.	.	0.872464492951	0.87121	0.5807451798694027	0.58003	0.559285100713	0.52478	0.571488440037	0.48889	T	0.07888	0.42385	T	-0.292023	0.09434	T	-0.199031	0.54739	T	0.0982959046959877	0.12168	T	0.882712	0.60756	D	0.18941581	0.40482	0.25607088	0.51301	0.18941581	0.40482	0.25607088	0.51300	-12.183	0.85731	D	.	.	0.181	0.41708	B	.;.;.	.;.;.	4.360658	0.67059	25.0	0.99700190623640705	0.80591	0.99515	0.96953	D	AEFGBHI	0.888402	0.82148	D	0.864844077679793	0.89936	10.18144	0.854003066918401	0.93247	11.91888	0.999993495095708	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	7.679000	0.83364	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	19.880	0.96894	188	0.92666	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	1332.98	34	chr17	56442921	.	G	T	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.620;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.150;SOR=0.693	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1347,0,1285	20	0	1	0
chr17	57979244	57979258	TGCTGCTGCTGCTGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1046del:p.Q350_Q354del	.	.	.	.	.	.	.	.	.	.	.	2808061	VEZF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1173190330	0.0032	0.0032	0.0032	0.0031	0.0036	0.0031	0.0031	0.0035	0.0034	0.0009	0.0013	0.0033	0.0004	0.0011	0.0014	0.0036	0.0023	0.0032	0.0022	0.0022	0.0024	0.0020	0.0042	0.0020	0.0019	0.0028	0.0027	0.0010	0.0022	0.0008	0.0041	0.0008	0.0017	0.0034	0.0032	0.0014	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/1:77,54,0,0:131:99:2031,0,3063,2263,3232,5494,2263,3232,5494,5494	15	1	1	0
chr17	57979256	57979258	TGC	-	exonic	VEZF1	.	nonframeshift deletion	VEZF1:NM_007146:exon5:c.1032_1034del:p.Q354del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/1:77,54,0,0:131:99:2031,0,3063,2263,3232,5494,2263,3232,5494,5494	15	1	1	0
chr17	57979258	57979258	-	TGC	exonic	VEZF1	.	nonframeshift insertion	VEZF1:NM_007146:exon5:c.1031_1032insGCA:p.Q354_H355insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	13884.97	34	chr17	57979243	.	TTGCTGCTGCTGCTGC	T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	13884.97	.	AC=3,1,3;AF=0.071,0.024,0.071;AN=42;BaseQRankSum=0.439;DP=1522;ExcessHet=0.2785;FS=3.274;InbreedingCoeff=0.1429;MLEAC=3,1,3;MLEAF=0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-1.580e-01;SOR=0.515	GT:AD:DP:GQ:PL	0/1:77,54,0,0:131:99:2031,0,3063,2263,3232,5494,2263,3232,5494,5494	15	1	1	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	0/1:34,15:49:8:8,0,660	8	0	11	2
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.918	D	0.001	N	0.981	D	3.07	M	-4.04	D	1.043	D	0.927	D	0.189	3.234	16.84	3.89	2.180	0.319	9.244	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	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	0.2143	416.88	220	chr17	63941038	.	C	G	416.88	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-5.194e+00;DP=3372;ExcessHet=1.7912;FS=313.201;InbreedingCoeff=-0.3107;MLEAC=8;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=0.282;SOR=13.047	GT:AD:DP:GQ:PL	0/1:151,61:238:99:103,0,2845	8	0	6	7
chr17	64055764	64055764	G	A	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon13:c.C1583T:p.T528M,	.	.	381	1133	8	0	0	8	0.00351803	.	.	2222942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.017	B	0.001	B	0.007	N	0.996	N	-0.69	N	0.2	T	-1.057	T	0.061	T	0.091	1.845	12.13	2.44	0.925	2.561	4.387	0.114	0.0158499193337	.	0.000199681	0.0002	0.0001	0.0001	0	0	2.205e-05	0	0.0013	0.0001358	21	154602	rs546366953	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	2.991e-05	2.265e-05	0	2.527e-05	1.915e-05	0.0021	0.0002	0.0001	0.0011	0.0001	0.0001	0.0002	8.055e-05	0.0010	7.572e-05	6.277e-05	0.0004	0.0003	9.625e-05	0	0	0	0	0	0	0.0001	0	0.0010	0.136	0.26085	T	0.142	0.33330	T	0.017	0.17573	B	0.001	0.04355	B	0.007468	0.31378	N	0.309004	0.996324	0.23049	N	0.205	0.09354	N	0.2	0.60111	T	-0.33	0.12472	N	0.161	0.16864	-1.0574	0.12414	T	0.061	0.25310	T	10	0.0123716295	0.00266	T	0.01585	0.36807	T	0.114	0.32008	.	.	0.401767401478	0.39795	0.2162798800807302	0.21543	0.439492444205	0.43977	0.285005092621	0.08199	T	0.176892	0.52700	T	-0.522025	0.00428	T	-0.568181	0.15617	T	0.0196864910711745	0.00671	T	0.857714	0.54741	D	0.022903724	0.00988	0.044467606	0.05767	0.022903724	0.00988	0.044467606	0.05767	-5.009	0.36938	T	.	.	0.077	0.06479	B	.	.	2.304195	0.29484	18.14	0.96727146315015444	0.30873	0.40896	0.26538	N	AEFDBI	0.142514	0.26498	N	-0.578639723423026	0.19595	1.026739	-0.397556632567177	0.25069	1.376499	0.990441978563673	0.32155	0.562547	0.31514	0	0.577304	0.33150	0	0.55559	0.18752	1	0.635551	0.53088	0	.	.	4.97	2.44	0.28875	2.590000	0.45819	1.503000	0.26970	0.654000	0.53741	0.506000	0.27002	0.988000	0.31051	0.572000	0.30699	0.4888:0.0:0.5112:0.0	4.387	0.10753	831	0.39019	.	.	.	.	.	.	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	2492.11	35	chr17	64055764	.	G	A	2492.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.61;DP=915;ExcessHet=0.1072;FS=0.492;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=2.24;SOR=0.757	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1305,0,1706	19	0	2	0
chr17	67826192	67826192	G	C	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_004459:exon1:c.G468C:p.Q156H	.	.	206	1314	2	0	0	2	0.000760456	.	.	2808234	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	0.924	P	0.366	B	.	.	0.975	N	1.15	L	-1.48	T	-0.743	T	0.302	T	0.238	0.444	6.414	0.129	0.297	1.511	5.480	0.171	0.129724170292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	1.364e-06	2.755e-06	2.321e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.659e-05	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.36310	T	0.044	0.69154	D	0.697	0.47667	P	0.135	0.39594	B	.	.	.	.	0.993229	0.25443	N	1.39	0.34934	L	-1.48	0.81150	T	-1.75	0.41428	N	0.338	0.39861	-0.7427	0.58313	T	0.302	0.67325	T	9	0.1795077	0.33088	T	0.129724	0.81181	D	0.171	0.43483	0.167	0.07186	0.58011961724	0.57683	0.042994353903412115	0.04244	1.03551510566	0.75575	0.930211186409	0.98999	D	0.14327	0.47930	T	-0.0469647	0.44908	T	-0.305238	0.44169	T	0.221717849373817	0.21549	T	0.464953	0.35895	T	0.080668345	0.18495	0.08768241	0.20395	0.080668345	0.18495	0.08768241	0.20395	-4.367	0.30322	T	.	.	0.236	0.57174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.338113	0.45984	22.2	0.68434490763743383	0.08657	0.22753	0.21851	N	ALL	0.046174	0.07639	N	-0.38745424004056	0.25914	1.410399	-0.414869242278276	0.24561	1.345616	0.99999999944075	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	2.25	0.129	0.14040	1.544000	0.35764	2.500000	0.33024	-0.362000	0.05498	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.2239:0.1677:0.6084:0.0	5.480	0.16012	892	0.26670	.;.;.;.;.;.;.	.	.	.	.	.	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	2273.98	37	chr17	67826192	.	G	C	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.176e+00;DP=917;ExcessHet=0.0000;FS=3.169;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=1.27;SOR=0.916	GT:AD:DP:GQ:PL	0/1:107,100:207:99:2288,0,2583	20	0	1	0
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP	.	.	428	734	271	57	32	417	0.207771	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	13627.31	45	chr17	67959642	.	T	TCCTCCAGCC,TCCTCCAGCCCCTCCAGCCCCTCCAGCC	13627.31	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.749;DP=1382;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.25;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:52,36,0:89:99:1483,0,2065,1526,2246,3927	14	1	5	0
chr17	68922240	68922240	A	C	splicing	ABCA8	NM_001288986:exon11:c.1501+2T>G;NM_001288985:exon12:c.1501+2T>G;NM_007168:exon11:c.1501+2T>G;NM_001375771:exon10:c.1318+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.706	18.82	4.74	2.118	5.525	13.477	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758629937	4.091e-05	0.0001	3.398e-05	4.736e-05	6.589e-05	2.166e-05	1.606e-05	1.86e-05	1.267e-05	0	0	0	0	5.567e-05	0	3.998e-05	0.0001	6.589e-05	0	4.676e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326414	0.84920	D	0.231095	0.84723	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.440514	0.68943	25.3	0.99315235073916608	0.59166	0.97762	0.76948	D	AEFI	.	.	.	1.02131379195499	0.96363	14.605	0.850026452231692	0.93017	11.77288	0.173703788940825	0.17773	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.967652	0.70199	4.74	4.74	0.59717	4.616000	0.60900	11.086000	0.85840	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.645000	0.32557	1.0:0.0:0.0:0.0	13.477	0.60770	932	0.16191	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	100.51	64	chr17	68922240	.	A	C	100.51	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-1.719e+00;DP=763;ExcessHet=0.0000;FS=10.681;InbreedingCoeff=0.0413;MLEAC=1;MLEAF=0.033;MQ=60.00;MQRankSum=0.00;QD=2.14;ReadPosRankSum=1.23;SOR=3.126	GT:AD:DP:GQ:PL	0/1:39,8:47:99:112,0,1051	14	0	1	6
chr17	69088219	69088219	A	C	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon28:c.T3646G:p.C1216G,	.	.	454	1045	18	5	0	28	0.01322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.967	D	0.756	P	0.008	N	1.000	D	2.72	M	-2.09	D	0.577	D	0.736	D	0.586	3.411	17.52	4.68	2.099	4.418	13.379	0.555	0.0492893968447	0.0005	0.000199681	0.0005	0	8.864e-05	0	0	0.0006	0.0023	0.0010	0.000401	62	154602	rs201339605	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0013	2.992e-05	0.0006	7.662e-05	0	1.877e-05	0.0026	0.0003	0.0006	0.0015	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	0	0.0001	0	0	0	0.0034	0.0006	0.0005	0.0004	0.055	0.38407	T	0.069	0.43913	T	0.967	0.56408	D	0.756	0.56253	P	0.007964	0.31093	N	0.146929	0.806409	0.34580	D	3.2	0.89116	M	-2.09	0.86077	D	-10.79	0.99198	D	0.607	0.62442	0.577	0.91600	D	0.736	0.90983	D	10	0.39042228	0.54851	T	0.049289	0.63745	D	0.555	0.81659	.	.	0.944523883228	0.94394	0.18814485795219263	0.18732	0.203604991525	0.22774	0.405933737755	0.25894	T	0.293799	0.66649	T	-0.15892	0.26926	T	-0.0466053	0.67254	D	0.216425599304568	0.21284	T	0.648535	0.25952	T	0.6130245	0.73390	0.6582248	0.79982	0.6130245	0.73391	0.6582248	0.79983	-7.453	0.57279	T	.	.	0.134	0.29172	B	.	.	3.895185	0.56705	23.8	0.97975398609407505	0.37283	0.95832	0.66344	D	AEFBI	0.846047	0.76294	D	0.506882642008772	0.67496	5.089388	0.441852167366404	0.64196	4.669193	0.936456131649171	0.27255	0.706298	0.61202	0	0.708844	0.79440	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	5.136000	0.64623	5.233000	0.48037	0.756000	0.94297	0.506000	0.27002	0.998000	0.33993	0.998000	0.85391	1.0:0.0:0.0:0.0	13.379	0.60203	957	0.09725	.	.	.	.	.	.	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	1670.98	35	chr17	69088219	.	A	C	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=866;ExcessHet=0.0000;FS=2.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.83;ReadPosRankSum=0.389;SOR=0.512	GT:AD:DP:GQ:PL	0/1:95,75:170:99:1685,0,2375	20	0	1	0
chr17	74347850	74347850	C	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon9:c.C998A:p.S333Y,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	1.000	D	3.475	M	-0.99	T	0.575	D	0.693	D	0.982	4.664	25.7	5.68	2.705	7.491	18.629	0.899	0.110198976968	.	.	2.502e-05	0	0	0	0	4.682e-05	0	0	6.5e-06	1	154602	rs746060672	4.881e-06	1.094e-05	5.528e-06	4.223e-06	0.0003	2.03e-06	1.31e-06	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	1.82e-06	0	3.666e-05	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.54	0.93167	H	-0.99	0.75911	T	-6.0	0.89534	D	0.923	0.92667	0.575	0.91572	D	0.693	0.89407	D	9	0.9199288	0.91348	D	0.110199	0.78748	D	0.899	0.97173	0.767	0.89452	0.962818715129	0.96242	0.8935962982137343	0.89329	0.793957154954	0.65953	0.77336192131	0.77928	T	0.753088	0.93250	D	0.388237	0.89223	D	0.319899	0.89087	D	0.986374378204346	0.77109	D	0.975602	0.91418	D	0.808269	0.84439	0.8643909	0.92480	0.808269	0.84441	0.8643909	0.92480	-13.545	0.91483	D	.	.	0.993	0.95383	P	.;.	.;.	5.059898	0.84328	28.3	0.99531666686025355	0.69901	0.97949	0.78358	D	AEFDBI	0.902906	0.85135	D	0.949947506867091	0.93984	12.417	0.875217795845955	0.94398	12.73092	0.999999992101265	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.68	5.68	0.88021	5.002000	0.63701	7.534000	0.59965	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	18.629	0.91309	773	0.48803	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1670.98	34	chr17	74347850	.	C	A	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.194;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=1.50;SOR=0.712	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1685,0,1537	20	0	1	0
chr17	75749025	75749025	C	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.C3296G:p.T1099S	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.763	P	0.000	D	0.998	D	0.975	L	1.41	T	-1.056	T	0.091	T	0.272	0.604	7.256	4.26	1.192	2.964	10.148	0.068	0.0303834520516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-05	0.0015	9.185e-05	7.66e-05	9.909e-05	7.176e-05	6.712e-05	8.354e-05	7.787e-05	9.227e-05	0	0	0	0	0	9.909e-05	8.496e-05	5.863e-05	3.31e-05	6.589e-05	1.294e-05	5.42e-05	0.0002	1.268e-05	8.03e-06	4.91e-06	1.84e-06	2.421e-05	0	0	0	0	9.634e-05	0	2.956e-05	0	0.0002	0.002	0.72154	D	0.01	0.66756	D	0.902	0.56408	P	0.585	0.56556	P	0.000127	0.49741	D	0.135690	0.99842	0.44899	D	1.7	0.43825	L	1.41	0.33412	T	-1.84	0.43149	N	0.548	0.57433	-1.0563	0.12698	T	0.091	0.34820	T	10	0.48247474	0.60513	T	0.030383	0.52709	D	0.068	0.19811	0.275	0.22687	0.769952734743	0.76784	0.5578496369941545	0.55711	0.292936544315	0.31716	0.440746605396	0.30679	T	0.17119	0.51922	T	-0.14281	0.29444	T	-0.442913	0.28482	T	0.830028891563416	0.48532	D	0.711829	0.32778	T	0.48351398	0.66113	0.23997939	0.49361	0.48351398	0.66113	0.23997939	0.49360	-5.715	0.44338	T	0.5097648672697275	0.58368	0.123	0.25882	B	.;.;.;.	.;.;.;.	3.029679	0.40581	21.2	0.38500852697330945	0.02600	0.97196	0.73256	D	AEFBI	0.571759	0.57561	D	0.0815504541283303	0.45603	2.814062	0.0276339862330141	0.41003	2.45617	0.997117847965658	0.35288	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	4.26	0.49832	3.022000	0.49342	5.871000	0.50535	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.026000	0.12556	0.0:0.7874:0.1385:0.0741	10.148	0.41952	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	0	0	0	0	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,31,0:107:99:0|1:75749025_C_G:544,0,2800,770,2891,3661:75749025	5	0	2	13
chr17	75749025	75749025	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,31,0:107:99:0|1:75749025_C_G:544,0,2800,770,2891,3661:75749025	5	0	2	13
chr17	75749026	75749026	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1267.21	80	chr17	75749026	.	C	G,*	1267.21	.	AC=2,1;AF=0.111,0.056;AN=18;BaseQRankSum=-3.986e+00;DP=1663;ExcessHet=0.3300;FS=369.875;InbreedingCoeff=-0.2730;MLEAC=3,2;MLEAF=0.167,0.111;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=4.10;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,31,0:107:99:0|1:75749025_C_G:544,0,2800,770,2891,3661:75749025	6	0	2	12
chr17	75749027	75749027	A	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.A3298G:p.I1100V	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.005	B	0.065	N	1.000	N	-0.255	N	1.86	T	-0.961	T	0.021	T	0.111	-0.309	2.530	-1.46	-0.019	0.434	10.078	0.009	0.0093230332651	.	.	8.858e-06	0	0	0	0	0	0	6.332e-05	6.5e-06	1	154602	rs754732749	7.125e-06	0.0003	8.531e-06	5.712e-06	3.103e-05	3.6e-06	2.63e-06	3.9e-06	1.76e-06	3.103e-05	0	0	0	0	0	6.562e-06	0	2.349e-05	0	6.661e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.849	0.02746	T	0.809	0.04181	T	0.0	0.07471	B	0.002	0.11217	B	0.065166	0.21900	N	0.445414	0.999584	0.20930	N	-1.15	0.00907	N	1.86	0.24285	T	-0.03	0.07444	N	0.247	0.30233	-0.9613	0.38936	T	0.021	0.08824	T	10	0.033866435	0.01575	T	0.009323	0.24459	T	0.009	0.00846	0.347	0.34274	0.238705975628	0.23479	0.35367653431977275	0.35281	0.239067160317	0.26460	0.284727245569	0.08161	T	0.053934	0.29583	T	-0.388524	0.02750	T	-0.695234	0.06090	T	0.0165865860176989	0.00419	T	0.564644	0.19916	T	0.041757572	0.06208	0.027220517	0.00859	0.041757572	0.06208	0.027220517	0.00859	-3.025	0.10719	T	0.07366712146606559	0.03127	0.061	0.02285	B	.;.;.;.	.;.;.;.	-0.703055	0.01314	0.071	0.21339881658324758	0.00809	0.01218	0.04323	N	AEFBI	0.107465	0.21410	N	-1.52727890269447	0.01672	0.07316043	-1.46805690100194	0.02610	0.1203548	0.806248547502662	0.24275	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	-1.46	0.08338	0.466000	0.21731	-0.520000	0.08695	-1.306000	0.01239	0.111000	0.23011	0.000000	0.08366	0.026000	0.12556	0.5122:0.0:0.4878:0.0	10.078	0.41546	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	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,31,0:107:99:0|1:75749025_C_G:544,0,2800,770,2891,3661:75749025	5	0	2	13
chr17	75749027	75749027	A	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,31,0:107:99:0|1:75749025_C_G:544,0,2800,770,2891,3661:75749025	5	0	2	13
chr17	76010322	76010322	C	G	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G2949C:p.E983D	.	.	401	1104	16	1	0	18	0.00808625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.979	D	0.604	P	0.000	D	0.517	N	2.14	M	-0.11	T	-0.399	T	0.205	T	0.182	3.404	17.50	2.57	1.051	1.200	10.756	0.161	0.0306489969412	0.0029	0.00279553	0.0045	0.0004	0.0014	0	0.0003	0.0055	0.0055	0.0093	0.0041397	640	154602	rs148533039	0.0038	0.0038	0.0036	0.0041	0.0121	0.0038	0.0037	0.0099	0.0090	0.0006	0.0015	0.0589	0	0.0002	0.0121	0.0024	0.0076	0.0093	0.0030	0.0030	0.0032	0.0027	0.0075	0.0027	0.0026	0.0055	0.0049	0.0005	0	0.0014	0.0527	0	0.0002	0.0136	0.0025	0.0047	0.0075	0.01	0.56456	D	0.026	0.55759	D	0.979	0.59044	D	0.604	0.50922	P	0.000065	0.52346	D	0.127911	0.51691	0.31601	N	2.83	0.82355	M	-0.11	0.64630	T	-2.03	0.46673	N	0.402	0.46180	-0.3992	0.72052	T	0.205	0.56362	T	10	0.004966855	0.00106	T	0.030649	0.52913	D	0.161	0.41658	0.117	0.02508	0.663968203398	0.66114	0.2623366917122307	0.26146	0.705443509024	0.61392	0.369297981262	0.20731	T	0.242154	0.61083	T	-0.375163	0.03341	T	-0.305275	0.44164	T	0.0653555037325935	0.07983	T	0.722728	0.33613	T	0.32339334	0.54925	0.34764948	0.60416	0.32339334	0.54925	0.34764948	0.60415	-6.028	0.46514	T	.	.	0.248	0.49693	B	.;.	.;.	3.331203	0.45857	22.2	0.99704804404606828	0.80867	0.90146	0.51096	D	AEFBI	0.615866	0.60265	D	0.279037752638346	0.55087	3.673053	0.239856434455143	0.52075	3.384824	0.469864391691247	0.20698	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.66	2.57	0.29928	1.225000	0.32154	1.089000	0.23963	0.583000	0.30283	1.000000	0.71638	0.471000	0.25053	0.987000	0.62547	0.0:0.767:0.0:0.233	10.756	0.45438	707	0.57054	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1234.98	44	chr17	76010322	.	C	G	1234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.340e-01;DP=796;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-2.020e-01;SOR=0.605	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1249,0,1142	20	0	1	0
chr17	76072432	76072432	-	CCGCCGCCGCCACTG	exonic	SRP68	.	nonframeshift insertion	SRP68:NM_001260502:exon1:c.59_60insCAGTGGCGGCGGCGG:p.G20_G21insSGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	3.869e-05	0.0001	2.556e-05	0.0006	0.0003	0.0003	8.176e-05	0.0004	0.0004	0.0005	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	0.0004	0	0.0006	0	0	9.491e-05	0	0.0005	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1232.94	34	chr17	76072432	.	A	ACCGCCGCCGCCACTG	1232.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=877;ExcessHet=0.0000;FS=9.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.87;ReadPosRankSum=-7.690e-01;SOR=1.766	GT:AD:DP:GQ:PL	0/1:36,33:69:99:1247,0,1391	20	0	1	0
chr17	77492700	77492700	T	C	exonic	SEPTIN9	.	nonsynonymous SNV	SEPTIN9:NM_001113495:exon7:c.T707C:p.V236A	.	.	.	.	.	.	.	.	.	.	.	800386	not_provided|Charcot-Marie-Tooth_disease,_type_I	MedGen:C3661900|MONDO:MONDO:0019011,MedGen:C0751036,Orphanet:65753	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.792	P	0.415	B	0.000	D	1.000	D	-0.02	N	0.79	T	-1.034	T	0.071	T	0.234	2.290	13.61	3.9	0.835	3.186	11.425	0.046	0.0102193075138	0.0002	.	7.543e-05	0	0	0	0	0.0001	0	6.058e-05	3.84e-05	1	26028	rs376712636	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	2.236e-05	0	0	0	0.0003	0.0003	0.0001	0.0002	0.0001	0.0001	0.0001	6.726e-05	0.0002	6.512e-05	5.323e-05	0.0001	8.879e-05	0	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.099	0.32929	T	0.541	0.15939	T	0.004	0.44688	B	0.02	0.44933	B	0.000005	0.62929	D	0.062830	0.870414	0.35552	D	0.51	0.13489	N	0.79	0.49068	T	-1.81	0.42763	N	0.593	0.63289	-1.0340	0.19173	T	0.071	0.28969	T	10	0.20724624	0.37013	T	0.010219	0.26500	T	0.046	0.12618	.	.	0.245697971988	0.24196	0.5397820122362251	0.53903	0.963419316255	0.73082	0.538649260998	0.44255	T	0.085173	0.37442	T	-0.15638	0.27317	T	-0.462406	0.26338	T	0.0769245872809204	0.09589	T	0.926707	0.80823	D	0.33339202	0.55747	0.250659	0.50661	0.33339202	0.55747	0.250659	0.50661	-8.899	0.67045	D	0.16884955372813445	0.21137	0.279	0.61067	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.946341	0.57785	23.9	0.99033784366914124	0.50851	0.85088	0.44193	D	AEFBCI	0.709640	0.66366	D	-0.399191487303613	0.25497	1.38456	-0.212425943032382	0.31088	1.756218	0.998269908002548	0.36664	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.99	3.9	0.44240	3.157000	0.50414	3.909000	0.40397	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.1353:0.0:0.0:0.8647	11.425	0.49245	994	0.00715	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;.;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1864.98	33	chr17	77492700	.	T	C	1864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=912;ExcessHet=0.0000;FS=1.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=0.615;SOR=0.787	GT:AD:DP:GQ:PL	0/1:97,82:179:99:1879,0,2169	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	0|1:104,49,0:153:99:0|1:80090158_A_G:1533,0,4007,1846,4150,5996:80090158	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	0/1:71,18,0:89:34:.:.:34,0,1650,241,1701,1942	1	7	4	7
chr17	82084074	82084074	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon29:c.C4999T:p.P1667S,	.	.	1	1519	2	0	0	2	0.000657895	.	.	469436	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.081	B	0.055	B	0.717	N	1.000	N	1.54	L	1.47	T	-1.040	T	0.002	T	0.104	-0.595	1.339	2.39	0.903	3.926	5.552	0.064	.	0.0006	0.0283546	0.0090	0.0035	0.0039	0.2087	0	0	0.0072	0.0052	0.0058731	908	154602	rs45557233	0.0035	0.0036	0.0034	0.0037	0.1031	0.0035	0.0034	0.1004	0.0992	0.0008	0.0004	0	0.1031	0.0002	0.0007	5.174e-05	0.0107	0.0066	0.0056	0.0056	0.0049	0.0063	0.1355	0.0053	0.0052	0.1272	0.1239	0.0016	0	0.0008	0	0.1355	9.409e-05	0	8.821e-05	0.0061	0.0106	0.461	0.08710	T	0.501	0.11153	T	0.081	0.24602	B	0.055	0.25995	B	0.716872	0.06290	N	1.149520	1	0.08975	N	1.155	0.29575	L	1.47	0.31987	T	-0.69	0.19720	N	0.277	0.31365	-1.0399	0.17343	T	0.002	0.00556	T	10	0.0039016604	0.00074	T	.	.	.	0.064	0.18567	.	.	.	.	0.5581640021688828	0.55743	.	.	0.287244170904	0.08522	T	0.342531	0.71130	T	-0.691452	0.00041	T	-0.623721	0.10896	T	0.00429868916182287	0.00046	T	0.949005	0.80370	D	0.107773475	0.25484	0.07148801	0.15314	0.107773475	0.25484	0.07148801	0.15313	-5.087	0.37769	T	.	.	0.104	0.18787	B	.;.	.;.	1.895549	0.24075	16.26	0.74771795795048956	0.10821	0.93716	0.58987	D	AEFDBHCI	0.291375	0.40252	N	-0.588725630601538	0.19285	1.00817	-0.603990895344846	0.19390	1.040108	0.935449077261282	0.27213	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.57	2.39	0.28492	3.983000	0.56625	6.914000	0.56908	0.618000	0.50648	0.628000	0.27982	0.998000	0.33993	0.001000	0.02609	0.112:0.0:0.4323:0.4557	5.552	0.16384	.	.	Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1488.98	36	chr17	82084074	.	G	A	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=923;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-2.910e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/1:73,57:130:99:1503,0,1895	20	0	1	0
chr18	2732448	2732448	G	A	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3232A:p.E1078K,	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.919	P	0.395	B	0.000	D	0.960	D	1.155	L	1.86	T	-1.106	T	0.063	T	0.774	3.215	16.77	5.27	2.437	5.163	18.885	0.179	0.0252814111583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.046	0.49120	D	0.919	0.50927	P	0.395	0.44317	B	0.000043	0.53742	D	0.122583	0.960458	0.38181	D	1.175	0.29870	L	1.86	0.24285	T	-1.2	0.30555	N	0.386	0.42737	-1.1062	0.03417	T	0.063	0.26244	T	10	0.31736785	0.49147	T	0.025281	0.48255	D	0.179	0.44899	0.395	0.42099	0.171220215726	0.16700	0.5070269732976612	0.50624	0.249247192868	0.27497	0.647655010223	0.59653	T	0.118561	0.43946	T	0.0465045	0.57891	T	-0.170976	0.57354	T	0.877296686172485	0.52719	D	0.840116	0.51512	T	0.23279612	0.46073	0.16777822	0.38688	0.23279612	0.46073	0.16777822	0.38688	-6.096	0.47076	T	0.16198928617406946	0.19868	0.217	0.44720	B	.	.	3.509325	0.49139	22.7	0.99874730886920349	0.95160	0.90737	0.52166	D	AEFGBI	0.383586	0.46503	N	0.400945318371357	0.61476	4.349073	0.476679891659967	0.66448	4.953359	0.999639206483282	0.41205	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.27	5.27	0.73797	5.240000	0.65201	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.885	0.92343	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	153.77	59	chr18	2732448	.	G	A	153.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.508e+00;DP=1240;ExcessHet=0.3300;FS=224.230;InbreedingCoeff=-0.1187;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=2.56;SOR=8.885	GT:AD:DP:GQ:PL	0/1:58,24:82:67:67,0,939	16	0	3	2
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	0/1:315,256,0:571:99:.:.:5875,0,8079,6818,8843,15661	3	2	4	0
chr18	10807179	10807179	G	A	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_001378183:exon8:c.C1013T:p.P338L	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	.	.	.	.	0.000	D	1.000	D	2.325	M	-2.01	D	0.468	D	0.720	D	0.855	3.011	16.04	5.33	2.480	9.165	19.006	0.823	0.13879129364	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs766490338	1.877e-05	1.779e-05	2.423e-05	1.317e-05	0.0004	1.306e-05	1.11e-05	6.163e-05	2.548e-05	0	0	0	0	0	0.0004	2.132e-05	1.727e-05	0	1.314e-05	1.313e-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	0.002	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	0.000001	0.84330	D	0.098480	1	0.81001	D	2.775	0.80997	M	-2.01	0.85613	D	-8.42	0.97170	D	0.877	0.90476	0.468	0.90095	D	0.720	0.90411	D	8	0.86674076	0.85921	D	0.138791	0.82128	D	0.823	0.94353	0.748	0.87905	0.527166514587	0.52364	0.8571573423038219	0.85678	0.634133508613	0.57281	0.773316323757	0.77921	T	0.218395	0.59683	T	0.375475	0.88414	D	0.312386	0.88760	D	0.988466739654541	0.78791	D	0.967203	0.88094	D	0.689624	0.77491	0.67012006	0.80646	0.689624	0.77492	0.67012006	0.80646	-10.275	0.75939	D	0.5557778450046885	0.62392	0.911	0.83512	P	.;.;.;.	.;.;.;.	4.157123	0.62404	24.5	0.97798478795500987	0.36046	0.98510	0.83546	D	AEFBI	0.928742	0.91342	D	0.598525629401434	0.73081	5.908444	0.647525650096046	0.78427	6.874025	0.999999999994548	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.33	5.33	0.75683	9.280000	0.94994	11.598000	0.93454	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	19.006	0.92829	844	0.36711	.;.;.;.	.	.	.	.	.	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	1607.98	33	chr18	10807179	.	G	A	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=812;ExcessHet=0.0000;FS=4.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=1.26;SOR=0.925	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1622,0,1291	20	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	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	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:265,53:318:99:776,0,6553	9	0	12	0
chr18	22172093	22172093	C	T	exonic	GATA6	.	nonsynonymous SNV	GATA6:NM_005257:exon2:c.C949T:p.R317W,	Atrial septal defect 9, Autosomal dominant;Atrioventricular septal defect 5, Autosomal dominant;Pancreatic agenesis and congenital heart defects, Autosomal dominant;Persistent truncus arteriosus;Tetralogy of Fallot, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.999	D	0.115	U	0.954	D	0.69	N	-5.69	D	0.803	D	0.934	D	0.711	2.308	13.67	-0.162	-0.360	0.407	3.469	0.568	0.959716465772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.28e-06	6.84e-06	4.461e-06	0	.	6.1e-07	1.7e-07	.	.	0	0	0	0	0	0	0	5.476e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.114646	0.19267	U	0.448963	0.953629	0.37839	D	1.39	0.34934	L	-5.69	0.99278	D	-4.44	0.77637	D	0.456	0.49511	0.803	0.94443	D	0.934	0.97815	D	10	0.77427	0.77330	D	0.959716	0.99735	D	0.568	0.82403	0.691	0.82843	0.964424718657	0.96404	0.6689191993641748	0.66829	.	.	0.909485459328	0.97422	D	0.978843	0.99814	D	0.278347	0.81175	D	0.16205	0.80932	D	0.981496036052704	0.73944	D	0.747125	0.36767	T	0.37259716	0.58776	0.24879612	0.50437	0.37259716	0.58777	0.24879612	0.50436	-10.324	0.75829	D	0.8910968578097473	0.94572	0.597	0.68768	P	.;.	.;.	4.021824	0.59410	24.1	0.99776001958031946	0.86346	0.30074	0.23988	N	AEFDBCIJ	0.320893	0.42386	N	-0.392301346608151	0.25742	1.399703	-0.607582121836334	0.19298	1.034756	0.999596309509978	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.375	0.06713	1	.	.	2.91	-0.162	0.12712	0.635000	0.24318	2.525000	0.33139	0.505000	0.23025	0.192000	0.24212	0.999000	0.35428	0.693000	0.33928	0.3401:0.4522:0.0:0.2077	3.469	0.07124	897	0.25382	GATA-type transcription activator, N-terminal;GATA-type transcription activator, N-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	1033.98	35	chr18	22172093	.	C	T	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=800;ExcessHet=0.0000;FS=1.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.109;SOR=0.990	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1048,0,813	20	0	1	0
chr18	23601272	23601272	C	T	exonic	ANKRD29	.	nonsynonymous SNV	ANKRD29:NM_001308238:exon9:c.G761A:p.R254H	.	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.108	B	0.023	B	0.000	N	0.993	D	0.55	N	0.03	T	-1.041	T	0.086	T	0.11	2.076	12.90	2.21	0.418	0.185	7.571	0.036	0.013438856657	0.0018	0.00139776	0.0018	0.0006	0.0016	0.0002	0	0.0020	0.0066	0.0031	0.001727	267	154602	rs143279851	0.0019	0.0019	0.0017	0.0020	0.0324	0.0018	0.0018	0.0286	0.0272	0.0007	0.0028	0.0025	2.52e-05	0.0001	0.0324	0.0016	0.0039	0.0031	0.0020	0.0020	0.0018	0.0022	0.0053	0.0018	0.0018	0.0044	0.0040	0.0005	0	0.0053	0.0029	0	0.0002	0.0479	0.0021	0.0061	0.0046	.	.	.	0.186	0.28860	T	0.066	0.26116	B	0.01	0.19966	B	0.000148	0.49130	N	0.217301	0.99043	0.41774	D	0.485	0.13215	N	0.2	0.68329	T	.	.	.	0.093	0.16308	-1.0412	0.16951	T	0.086	0.33522	T	10	0.003341049	0.00058	T	0.013439	0.32845	T	0.036	0.09122	.	.	0.434160288164	0.43035	0.6621810322012781	0.66155	0.861703014694	0.68993	0.293593078852	0.09449	T	0.016855	0.13851	T	-0.504587	0.00539	T	-0.500631	0.22282	T	0.0272328357487026	0.01577	T	0.847115	0.52772	T	0.055065364	0.10651	0.04435256	0.05729	0.055065364	0.10650	0.04435256	0.05728	-4.316	0.28400	T	.	.	0.176	0.38462	B	.;.	.;.	1.876110	0.23830	16.17	0.9670629043199368	0.30795	0.05600	0.11505	N	AEFBI	0.070855	0.14081	N	-0.613046999935828	0.18551	0.9640484	-0.530462593776473	0.21327	1.153236	0.868652186960861	0.25369	0.549168	0.22868	0	0.588066	0.40923	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.96	2.21	0.27042	0.241000	0.17843	-0.212000	0.10844	0.599000	0.40250	0.230000	0.24643	0.000000	0.08366	0.996000	0.76049	0.0:0.6724:0.0:0.3276	7.571	0.27071	506	0.75555	Ankyrin repeat-containing domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	596.98	35	chr18	23601272	.	C	T	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.990e-01;DP=797;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=0.382;SOR=0.587	GT:AD:DP:GQ:PL	0/1:59,32:91:99:611,0,1351	20	0	1	0
chr18	23847592	23847592	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon32:c.G4060A:p.E1354K	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	1	1507	14	0	0	14	0.00462351	.	.	780010	not_provided|LAMA3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.78	T	0.082	B	0.014	B	.	.	1.000	N	0.76	N	2.24	T	-0.981	T	0.028	T	0.216	2.540	14.45	1.23	0.702	3.119	8.246	0.061	0.0135499901705	0.0021	0.000399361	0.0025	0.0008	0.0010	0	0.0003	0.0038	0.0035	0.0012	0.002348	363	154602	rs34799994	0.0035	0.0035	0.0035	0.0034	0.0085	0.0034	0.0034	0.0066	0.0059	0.0008	0.0013	0.0084	0	0.0005	0.0085	0.0039	0.0031	0.0018	0.0022	0.0022	0.0022	0.0022	0.0034	0.0020	0.0019	0.0030	0.0029	0.0007	0	0.0022	0.0063	0	0.0003	0	0.0034	0.0024	0.0027	0.137	0.25979	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.18570	T	-2.78	0.58896	D	0.44	0.49420	-0.9808	0.34817	T	0.028	0.12014	T	9	0.006095499	0.00137	T	0.01355	0.33038	T	0.061	0.17616	.	.	0.156986980423	0.15292	0.4686230422512138	0.46781	0.143636218915	0.16218	0.35839933157	0.19152	T	0.056869	0.30409	T	-0.550399	0.00290	T	-0.563394	0.16058	T	0.0298882867621467	0.01973	T	0.808919	0.62654	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.11893	B	.;.;.	.;.;.	2.673468	0.34861	19.74	0.9964290394584121	0.76756	0.65359	0.32711	D	AEFDBHCI	0.205287	0.33165	N	-0.598979867708339	0.18976	0.9895446	-0.490797174565182	0.22405	1.216822	0.998968918113634	0.38084	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.54	1.23	0.20358	3.196000	0.50722	1.937000	0.29806	0.676000	0.76740	1.000000	0.71638	0.976000	0.30059	0.866000	0.41154	0.191:0.2273:0.5817:0.0	8.246	0.30851	589	0.68969	.;Laminin EGF 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	1595.98	35	chr18	23847592	.	G	A	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=817;ExcessHet=0.0000;FS=1.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.123e+00;SOR=0.553	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1610,0,1117	20	0	1	0
chr18	26035893	26035893	G	A	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon8:c.C911T:p.S304L	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.995	D	0.83	P	0.008	N	1.000	D	1.32	L	1.14	T	-0.886	T	0.188	T	0.586	4.637	25.4	5.76	2.724	8.608	19.975	0.250	0.0193514279172	.	.	1.439e-05	0	0	0	0	2.915e-05	0	0	3.84e-05	1	26028	rs745407303	4.831e-06	5.472e-06	2.742e-06	6.949e-06	4.566e-05	2.01e-06	1.29e-06	7.57e-06	2.83e-06	0	4.566e-05	0	0	0	0	3.622e-06	1.674e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.068	0.44106	T	0.995	0.67487	D	0.83	0.59611	P	0.007923	0.31115	N	0.307172	0.999956	0.81001	D	1.73	0.44655	L	1.14	0.38397	T	-3.33	0.66206	D	0.701	0.71232	-0.8860	0.49273	T	0.188	0.53886	T	10	0.5772234	0.65648	D	0.019351	0.41689	T	0.250	0.55888	0.257	0.19845	0.0934897674506	0.08844	0.4660718341775758	0.46526	0.465419091298	0.45979	0.752168536186	0.74767	T	0.667403	0.90089	D	-0.00522792	0.50931	T	-0.245286	0.50282	T	0.841705083847046	0.49467	D	0.987176	0.95613	D	0.17736745	0.38699	0.21592529	0.46200	0.17736745	0.38699	0.21592529	0.46199	-9.159	0.68714	D	.	.	0.201	0.47600	B	.;.	.;.	5.908426	0.94025	33	0.99901532448677277	0.97350	0.99129	0.91652	D	AEFGBI	0.874818	0.79789	D	0.727350128097583	0.81423	7.519189	0.770549816648691	0.87681	9.307392	0.999999999998221	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	8.729000	0.91217	11.902000	0.99384	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.975	0.97301	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	547.98	38	chr18	26035893	.	G	A	547.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=757;ExcessHet=0.0000;FS=2.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=1.55;SOR=0.461	GT:AD:DP:GQ:PL	0/1:34,27:61:99:562,0,772	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	0/1:53,51:104:99:1106,0,1150	18	0	3	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	.	2	1440	77	3	0	83	0.0280121	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.004	N	1.000	D	2.78	M	-0.01	T	-0.061	T	0.425	T	0.524	3.626	18.45	6.01	2.850	5.579	20.125	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1359.98	34	chr18	31403566	.	C	T	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=850;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.19;ReadPosRankSum=-1.036e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1374,0,1934	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	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	0/1:31,26:57:99:138,0,354	1	0	20	0
chr18	41990517	41990517	G	A	exonic	PIK3C3	.	nonsynonymous SNV	PIK3C3:NM_001308020:exon5:c.G488A:p.C163Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.000	D	1.000	D	-1.01	N	0.39	T	-0.981	T	0.088	T	0.582	-0.345	2.367	5.34	2.645	4.748	19.402	0.202	0.0191825203697	.	.	8.354e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs1234693293	1.379e-06	2.052e-06	0	2.769e-06	1.815e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.815e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000131	0.49741	D	0.198010	0.818997	0.37886	D	-0.315	0.03579	N	0.02	0.62318	T	0.21	0.05217	N	0.728	0.72925	-0.9808	0.34817	T	0.088	0.34023	T	9	0.14951387	0.28295	T	0.019183	0.41471	T	0.202	0.48754	0.392	0.41606	0.616482784632	0.61338	0.40395938723633873	0.40311	0.334730339818	0.35486	0.714015185833	0.69175	T	0.200424	0.55801	T	-0.0171526	0.49259	T	-0.262415	0.48584	T	0.769654989242554	0.44418	D	0.948805	0.80311	D	0.23897348	0.46781	0.23540187	0.48783	0.23897348	0.46781	0.23540187	0.48782	-1.19	0.01236	T	.	.	0.080	0.08609	B	.;.;.	.;.;.	3.041452	0.40780	21.2	0.42870556351810196	0.03189	0.94287	0.60687	D	AEFDGBI	0.656425	0.62842	D	-0.221435958348044	0.32255	1.817107	0.0574485718185649	0.42433	2.566441	0.999999958112255	0.74766	0.741868	0.97996	0	0.709663	0.81188	0	0.709663	0.75317	0	0.662026	0.63922	0	.	.	5.34	5.34	0.75982	4.832000	0.62449	9.955000	0.82755	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.402	0.94624	913	0.21160	.;.;.	.	.	.	.	.	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	2844.98	34	chr18	41990517	.	G	A	2844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e-01;DP=949;ExcessHet=0.0000;FS=2.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=2.07;SOR=0.562	GT:AD:DP:GQ:PL	0/1:112,124:236:99:2859,0,2536	20	0	1	0
chr18	46509805	46509805	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon3:c.G127A:p.E43K	Deafness, autosomal recessive 77, Autosomal recessive	.	3	1509	10	0	0	10	0.00330251	.	.	57109	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided|not_specified|Hearing_impairment	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900|MedGen:CN169374|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	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.979	D	0.814	P	0.001	D	1.000	D	0	N	-0.16	T	-0.631	T	0.220	T	0.33	3.786	19.22	5.54	2.768	7.418	19.426	0.146	0.0425855318556	0.0009	0.000199681	0.0005	0	0	0	0	0.0011	0	0.0001	0.0001876	29	154602	rs200242497	0.0009	0.0008	0.0009	0.0009	0.0014	0.0008	0.0008	0.0009	0.0009	0.0003	0.0007	0.0026	0	0	0.0014	0.0010	0.0011	7.577e-05	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0003	0.0023	0	9.429e-05	0	0.0009	0	0	0.044	0.43085	D	0.04	0.69154	D	0.763	0.43659	P	0.21	0.37304	B	0.000570	0.43250	D	0.234295	0.999398	0.50806	D	.	.	.	-0.16	0.65378	T	-1.04	0.27463	N	0.263	0.40864	-0.6314	0.63511	T	0.220	0.58292	T	10	0.034445405	0.01653	T	0.042586	0.60541	D	0.146	0.38789	.	.	0.278143212241	0.27437	0.5035341707425945	0.50275	.	.	0.622962832451	0.56148	T	0.01759	0.14326	T	-0.335151	0.05731	T	-0.29975	0.44751	T	0.0578286562680526	0.06823	T	0.987301	0.95872	D	0.23193084	0.45972	0.28068095	0.54045	0.28878438	0.51879	0.3201495	0.57971	-3.574	0.31970	T	.	.	0.126	0.56363	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.383947	0.67603	25.1	0.99302801585587441	0.58686	0.97630	0.76021	D	AEFDBI	0.949597	0.96240	D	0.346657515222732	0.58561	4.029319	0.48847170156649	0.67223	5.055538	0.999999999990376	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.814000	0.84682	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.426	0.94734	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1689.98	33	chr18	46509805	.	C	T	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.980e-01;DP=847;ExcessHet=0.0000;FS=3.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=1.36;SOR=0.416	GT:AD:DP:GQ:PL	0/1:72,72:144:99:1704,0,1801	20	0	1	0
chr18	49797587	49797589	GAA	-	exonic	ACAA2	.	nonframeshift deletion	ACAA2:NM_006111:exon3:c.189_191del:p.S64del,	.	.	454	1067	0	1	0	2	0.00093633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.366e-05	0	0.0003	0	0	0.0001	0	0	3.84e-05	1	26028	rs775692005	4.882e-05	4.925e-05	4.788e-05	4.977e-05	0.0004	3.946e-05	3.623e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0002	4.236e-05	0.0001	0	7.881e-05	7.874e-05	7.711e-05	8.058e-05	0.0005	4.494e-05	3.51e-05	0.0003	0.0002	2.407e-05	0	0.0005	0	0.0002	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	828.94	37	chr18	49797586	.	TGAA	T	828.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.544;DP=740;ExcessHet=0.0000;FS=1.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=1.25;SOR=1.038	GT:AD:DP:GQ:PL	0/1:27,22:49:99:843,0,1047	20	0	1	0
chr18	50801498	50801498	C	T	exonic	MRO	.	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G478A:p.D160N	.	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.975	D	0.000	D	1.000	D	2.75	M	1.42	T	-0.114	T	0.362	T	0.157	2.878	15.59	5.68	2.680	1.623	15.308	0.271	.	0.0008	0.00359425	0.0031	0.0002	0.0015	0.0001	0.0009	0.0019	0.0024	0.0165	0.0027684	428	154602	rs34421198	0.0024	0.0025	0.0020	0.0029	0.0151	0.0024	0.0024	0.0144	0.0141	0.0005	0.0014	0.0002	7.595e-05	0.0009	0.0150	0.0017	0.0024	0.0151	0.0020	0.0020	0.0017	0.0024	0.0139	0.0019	0.0018	0.0112	0.0103	0.0003	0	0.0046	0	0.0006	0.0008	0.0068	0.0021	0.0014	0.0139	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.975	0.73362	D	0.000007	0.62929	D	0.000000	0.696698	0.81001	D	2.815	0.81989	M	1.42	0.65006	T	-3.44	0.67477	D	0.605	0.62611	-0.1139	0.79777	T	0.362	0.72330	T	10	0.007470429	0.00170	T	.	.	.	0.271	0.58633	.	.	0.575311710502	0.57199	0.16681027560439488	0.16601	0.0435277124011	0.04688	0.48858615756	0.37242	T	0.110548	0.42532	T	-0.41668	0.01797	T	-0.358984	0.38171	T	0.0206226885171932	0.00762	T	0.861714	0.55578	D	0.29636022	0.52576	0.25336042	0.50982	0.29636022	0.52576	0.25336042	0.50981	-7.849	0.61343	D	.	.	0.168	0.37159	B	.;.;.;.;.	.;.;.;.;.	4.209609	0.63584	24.6	0.99807372955357432	0.89174	0.57508	0.30395	D	AEFDI	0.299725	0.40870	N	0.363860164978995	0.59477	4.127244	0.231101934870252	0.51582	3.339425	0.999706443228583	0.41986	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	1.657000	0.36981	5.928000	0.51272	0.599000	0.40250	0.917000	0.31872	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	15.308	0.73714	696	0.58299	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	530.98	40	chr18	50801498	.	C	T	530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.453;DP=739;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.982;SOR=0.885	GT:AD:DP:GQ:PL	0/1:16,21:37:99:545,0,369	20	0	1	0
chr18	54269620	54269620	C	G	exonic	POLI	.	nonsynonymous SNV	POLI:NM_001351610:exon1:c.C74G:p.A25G	.	.	405	1089	27	1	0	29	0.01314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.001	B	.	.	0.549	N	0.895	L	0.89	T	-1.029	T	0.069	T	0.22	0.220	5.185	0.786	0.096	-0.176	6.843	0.021	.	0.0004	0.00419329	0.0058	0.0006	0.0068	0	0	0.0012	0	0.0114	0.0014295	221	154602	rs202045769	0.0019	0.0019	0.0017	0.0022	0.0134	0.0019	0.0018	0.0108	0.0102	0.0004	0.0020	0.0009	0.0001	4.378e-05	0.0134	0.0014	0.0027	0.0111	0.0015	0.0015	0.0012	0.0018	0.0139	0.0014	0.0013	0.0112	0.0102	0.0003	0	0.0029	0.0009	0	9.414e-05	0.0170	0.0013	0.0043	0.0139	0.101	0.30375	T	0.555	0.09267	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.31351	N	0.895	0.22405	L	1.11	0.45636	T	-0.56	0.17003	N	0.082	0.22870	-1.0291	0.20746	T	0.069	0.28247	T	9	0.0048523843	0.00103	T	.	.	.	0.021	0.04004	.	.	0.227934060464	0.22382	0.1694890860833699	0.16868	0.0125379949557	0.01191	0.392930924892	0.24082	T	0.074257	0.34896	T	-0.580683	0.00191	T	-0.596499	0.13107	T	0.00054267704512687	0.00005	T	0.450755	0.12737	T	0.037858743	0.04932	0.07303889	0.15826	0.037858743	0.04932	0.07303889	0.15826	-4.053	0.24594	T	.	.	0.091	0.13923	B	.;.	.;.	0.949704	0.13258	9.759	0.87848024532690416	0.17527	0.01836	0.05693	N	ALL	0.029633	0.02833	N	-1.12154625324152	0.06261	0.2877365	-1.14979809578305	0.06771	0.3270828	0.999999999999983	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.91	0.786	0.17734	-0.163000	0.09986	0.159000	0.15383	-0.315000	0.05944	0.004000	0.16614	0.000000	0.08366	0.036000	0.13842	0.0:0.4662:0.4212:0.1125	6.843	0.23155	597	0.68309	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	794.98	43	chr18	54269620	.	C	G	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.91;ReadPosRankSum=0.933;SOR=0.551	GT:AD:DP:GQ:PL	0/1:19,28:47:99:809,0,437	20	0	1	0
chr18	63723131	63723131	T	C	exonic	SERPINB11	.	nonsynonymous SNV	SERPINB11:NM_001291278:exon6:c.T650C:p.L217P	.	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.755	H	2.14	T	0.803	D	0.803	D	0.804	2.982	15.94	4.96	1.975	7.688	14.098	0.786	0.0409360730843	0.0037	0.00139776	0.0039	0.0012	0.0079	0	0.0021	0.0053	0.0024	0.0002	0.0039262	607	154602	rs192457429	0.0053	0.0054	0.0054	0.0053	0.0063	0.0052	0.0052	0.0062	0.0061	0.0011	0.0062	0.0003	2.528e-05	0.0014	0.0052	0.0063	0.0051	0.0005	0.0038	0.0038	0.0040	0.0037	0.0062	0.0036	0.0035	0.0057	0.0055	0.0010	0.0033	0.0056	0.0012	0.0002	0.0008	0.0136	0.0062	0.0066	0.0004	.	.	.	0.003	0.79402	D	.	.	.	.	.	.	0.000494	0.43931	D	0.000000	0.999813	0.81001	D	.	.	.	-2.34	0.87989	D	-5.6	0.86608	D	0.657	0.75374	0.803	0.94444	D	0.803	0.93351	D	10	0.10671994	0.19789	T	0.040936	0.59652	D	0.786	0.92908	.	.	0.903140535234	0.90217	0.8610644739727862	0.86070	0.0908232463567	0.10252	0.482087314129	0.36345	T	.	.	.	0.0986318	0.64145	D	0.374592	0.91236	D	0.0718692801048032	0.08911	T	0.816718	0.62120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.837	0.79096	P	.;.;.;.	.;.;.;.	4.757209	0.76871	26.6	0.99880724522742492	0.95653	0.98882	0.88116	D	AEFGBI	0.900473	0.84604	D	0.729625810028956	0.81575	7.554375	0.568024246200687	0.72661	5.845088	0.999999604533057	0.74766	0.055872	0.00684	0	0.059962	0.00310	0	0.067067	0.01885	0	0.057018	0.00518	0	.	.	4.96	4.96	0.65153	7.752000	0.84018	7.824000	0.69857	0.609000	0.47794	0.979000	0.35152	0.993000	0.31925	0.921000	0.45669	0.0:0.0:0.0:1.0	14.098	0.64561	955	0.09969	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	148	chr18	63723131	.	T	C	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.666;DP=2644;ExcessHet=0.0000;FS=1.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-6.800e-02;SOR=0.856	GT:AD:DP:GQ:PL	0/1:85,81:166:99:2195,0,2261	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	0/1:26,3:29:3:3,0,667	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	0/1:52,41:93:99:.:.:506,0,924	0	0	20	1
chr18	74354063	74354063	C	A	exonic	C18orf63	.	stopgain	C18orf63:NM_001174123:exon12:c.C1796A:p.S599X,	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.009	N	1.000	A	.	.	.	.	.	.	.	.	.	8.309	40	4.78	2.697	1.755	7.350	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223189288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009465	0.30346	N	0.154854	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.080322	0.97158	37	0.99516377029850189	0.68979	0.81986	0.41286	D	AEFGBI	0.084089	0.17039	N	0.723043770671935	0.81143	7.453699	0.582922091112022	0.73718	6.016227	0.547895309732653	0.21309	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.71	4.78	0.60666	1.824000	0.38710	3.288000	0.37283	-0.178000	0.10482	1.000000	0.71638	0.998000	0.33993	0.527000	0.29637	0.0:0.7417:0.1708:0.0875	7.350	0.25860	988	0.01987	Domain of unknown function DUF4708	.	.	.	.	.	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	1217.98	56	chr18	74354063	.	C	A	1217.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.648;DP=1063;ExcessHet=0.0000;FS=2.565;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-7.990e-01;SOR=0.977	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1232,0,1386	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	1/1:0,64,0,0:64:99:.:.:2695,185,0,2701,192,2708,2701,192,2708,2708	1	10	5	0
chr19	651651	651651	G	A	exonic	RNF126	.	nonsynonymous SNV	RNF126:NM_194460:exon4:c.C403T:p.R135W,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.992	D	0.000	D	0.999	D	2.42	M	2.31	T	-1.074	T	0.104	T	0.805	4.195	21.8	2.18	0.377	2.168	10.894	0.277	0.130127928395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335643674	1.169e-05	2.394e-05	1.728e-05	5.936e-06	3.17e-05	6.92e-06	5.6e-06	8.45e-06	6.7e-06	0	3.17e-05	0	0	0	0	1.407e-05	0	0	1.315e-05	1.313e-05	2.571e-05	0	6.549e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	6.549e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	0.998517	0.45021	D	2.85	0.82803	M	2.31	0.16794	T	-4.36	0.76980	D	0.881	0.87917	-1.0738	0.08598	T	0.104	0.38119	T	10	0.8167276	0.80906	D	0.130128	0.81225	D	0.277	0.59375	0.439	0.49321	0.367258803036	0.36341	.	.	0.792071318349	0.65852	0.749665856361	0.74398	T	0.366	0.73107	T	0.0625735	0.59936	T	-0.147894	0.59429	T	0.991392970085144	0.81685	D	0.934307	0.75413	D	0.32001677	0.54641	0.22305685	0.47171	0.32001677	0.54641	0.22305685	0.47170	-7.224	0.55653	T	.	.	0.340	0.55903	B	.	.	5.335191	0.89527	30	0.99795827583480468	0.88106	0.96854	0.71299	D	AEFDBI	0.759106	0.69754	D	0.175803588070804	0.50039	3.197868	0.0873303522772303	0.43909	2.683078	0.0165644311049104	0.12846	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.42	2.18	0.26813	2.234000	0.42681	4.553000	0.43811	-0.259000	0.06933	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.6578:0.3422	10.894	0.46222	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	0	0	0	0	0.02381	1283.98	41	chr19	651651	.	G	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.113;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=1.18;SOR=0.708	GT:AD:DP:GQ:PL	0/1:68,54:122:99:1298,0,1669	20	0	1	0
chr19	932642	932642	C	A	exonic	ARID3A	.	nonsynonymous SNV	ARID3A:NM_005224:exon3:c.C593A:p.P198Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.002	B	0.770	N	1.000	N	0.205	N	1.13	T	-1.036	T	0.048	T	0.09	1.135	9.624	-1.42	-0.075	-0.038	3.309	0.027	0.0197603760681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.555	0.11263	T	0.006	0.13644	B	0.002	0.06944	B	0.769568	0.09558	N	0.880899	1	0.08975	N	0.365	0.12025	N	1.13	0.38556	T	-0.87	0.23590	N	0.165	0.17416	-1.0363	0.18450	T	0.048	0.20632	T	10	0.0438717	0.03283	T	0.01976	0.42203	T	0.027	0.05988	0.145	0.04843	0.19670166235	0.19296	0.06495002367653956	0.06434	0.153664857252	0.17337	0.52644610405	0.42534	T	0.080836	0.36457	T	-0.292647	0.09373	T	-0.658144	0.08392	T	0.0354856006545136	0.02890	T	0.544846	0.19755	T	0.09300252	0.21832	0.049545016	0.07593	0.09300252	0.21831	0.049545016	0.07592	-6.212	0.48020	T	.	.	0.068	0.02861	B	.;.	.;.	0.945193	0.13213	9.711	0.94381626725404566	0.24754	0.02548	0.07073	N	AEFDGBHCI	0.033503	0.03990	N	-1.00789346141165	0.08439	0.3956912	-1.01427212959898	0.09471	0.4713781	0.999999654415179	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.698795	0.65105	0	0.699875	0.68795	0	.	.	3.81	-1.42	0.08446	-0.057000	0.11726	0.248000	0.16392	-0.342000	0.05666	0.000000	0.06391	0.000000	0.08366	0.479000	0.28543	0.3631:0.3488:0.0:0.2881	3.309	0.06599	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	0.02381	759.98	33	chr19	932642	.	C	A	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.010e-01;DP=766;ExcessHet=0.0000;FS=2.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=-3.640e-01;SOR=0.368	GT:AD:DP:GQ:PL	0/1:18,32:50:99:774,0,371	20	0	1	0
chr19	1005305	1005305	G	A	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon3:c.G1804A:p.G602S,	.	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	1.0	D	0.000	D	1.000	D	2.285	M	0.68	T	-0.430	T	0.297	T	0.668	3.739	18.99	4.36	2.012	9.675	15.515	0.505	0.11202838011	.	.	2.492e-05	0	0	0.0002	0	1.517e-05	0	0	1.94e-05	3	154602	rs556153075	1.711e-05	1.71e-05	1.634e-05	1.788e-05	0.0002	1.174e-05	9.93e-06	0.0001	8.775e-05	2.987e-05	4.472e-05	0	0.0002	0	0.0002	2.698e-06	3.313e-05	8.116e-05	6.563e-06	6.561e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-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	0.999996	0.58761	D	2.445	0.70938	M	0.68	0.51952	T	-5.63	0.86836	D	0.758	0.75650	-0.4304	0.71054	T	0.297	0.66811	T	10	0.9229808	0.91649	D	0.112028	0.79002	D	0.505	0.78662	0.781	0.90541	0.755748429859	0.75352	0.8517997488879407	0.85141	0.547506456974	0.51718	0.730599582195	0.71594	T	0.608666	0.87565	D	-0.112016	0.34435	T	-0.0983552	0.63525	T	0.636053124424824	0.37870	D	0.983102	0.94254	D	0.8776762	0.89477	0.8132344	0.89106	0.8776762	0.89478	0.8132344	0.89107	-11.059	0.79980	D	.	.	0.303	0.53222	B	.	.	4.784782	0.77595	26.7	0.99779670058111847	0.86693	0.94233	0.60519	D	AEFDGBHCI	.	.	.	0.620766201004232	0.74488	6.141512	0.525761628056072	0.69730	5.402136	0.999999956646965	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.664235	0.64389	0	.	.	4.36	4.36	0.51643	9.807000	0.98261	8.491000	0.77329	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:0.0:1.0:0.0	15.515	0.75549	994	0.00715	Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	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	2365.98	66	chr19	1005305	.	G	A	2365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=1427;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.968;SOR=0.604	GT:AD:DP:GQ:PL	0/1:105,94:199:99:2380,0,2512	20	0	1	0
chr19	1828320	1828320	C	T	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.G469A:p.G157S,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.719	P	0.068	B	0.179	N	1.000	N	0.51	N	2.83	T	-0.965	T	0.012	T	0.114	-0.463	1.858	-4.06	-0.599	-0.167	10.979	0.012	.	0.0019	0.00159744	0.0026	0.0008	0.0070	0	0.0002	0.0028	0.0127	0.0015	0.0022121	342	154602	rs200585798	0.0027	0.0027	0.0027	0.0026	0.0060	0.0026	0.0026	0.0054	0.0052	0.0008	0.0060	0.0006	0	0.0003	0.0049	0.0029	0.0031	0.0016	0.0021	0.0021	0.0022	0.0019	0.0059	0.0019	0.0018	0.0049	0.0045	0.0007	0	0.0059	0.0003	0	0.0002	0.0068	0.0026	0.0028	0.0012	0.119	0.28026	T	0.474	0.12107	T	0.004	0.12183	B	0.002	0.06944	B	0.178676	0.17164	N	0.573647	0.999997	0.08975	N	-0.27	0.03760	N	2.83	0.10771	T	-0.35	0.12847	N	0.065	0.03726	-0.9652	0.38171	T	0.012	0.04463	T	10	0.004287094	0.00086	T	.	.	.	0.012	0.01476	.	.	0.168254554758	0.16434	0.43282251149902035	0.43199	0.094583282972	0.10679	0.368344157934	0.20594	T	0.010101	0.09146	T	-0.670953	0.00054	T	-0.734911	0.04108	T	0.0071254534206293	0.00081	T	0.50155	0.15709	T	0.03487965	0.03998	0.040064283	0.04243	0.03487965	0.03998	0.040064283	0.04243	-3.278	0.13455	T	.	.	0.068	0.02894	B	.	.	-0.559093	0.01687	0.122	0.69617167218483667	0.09029	0.02768	0.07465	N	AEFDBI	0.076355	0.15359	N	-1.41777649389106	0.02483	0.1096899	-1.51994663505716	0.02191	0.1003945	0.625114301280435	0.21919	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.73	-4.06	0.03718	-0.197000	0.09519	-1.803000	0.04697	-1.904000	0.00521	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2014:0.0:0.7986	10.979	0.46694	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	563.98	36	chr19	1828320	.	C	T	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.13;SOR=0.631	GT:AD:DP:GQ:PL	0/1:29,20:49:99:578,0,737	20	0	1	0
chr19	3000657	3000657	C	T	exonic	TLE2	.	nonsynonymous SNV	TLE2:NM_001144762:exon17:c.G1748A:p.S583N	.	.	427	1072	20	3	0	26	0.0119816	.	.	1671777	Neutropenia|Lymphopenia	Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.997	D	0.934	D	0.000	D	1.000	D	1.46	L	2.79	T	-1.174	T	0.030	T	0.121	3.398	17.47	3.96	2.237	7.583	13.972	0.199	.	0.0068	0.00938498	0.0117	0.0261	0.0232	0	0.0283	0.0130	0.0282	0.0018	0.004987	771	154602	rs143713547	0.0045	0.0046	0.0045	0.0045	0.0346	0.0044	0.0044	0.0306	0.0291	0.0140	0.0072	0.0071	0	0.0093	0.0346	0.0039	0.0077	0.0022	0.0084	0.0084	0.0084	0.0083	0.0149	0.0080	0.0078	0.0139	0.0135	0.0149	0	0.0098	0.0075	0	0.0107	0.0411	0.0045	0.0147	0.0027	0.025	0.47320	D	0.046	0.49663	D	0.971	0.57185	D	0.934	0.66904	D	0.000001	0.84330	D	0.092112	0.992512	0.81001	D	1.665	0.42610	L	2.79	0.11189	T	-2.57	0.55501	D	0.748	0.77507	-1.1741	0.00464	T	0.030	0.12760	T	10	0.009703219	0.00218	T	.	.	.	0.199	0.48268	.	.	0.734121464286	0.73174	0.6046838372921431	0.60399	0.915692668463	0.71232	0.846584916115	0.89098	D	0.431093	0.77934	T	-0.545414	0.00311	T	-0.54455	0.17852	T	0.0227404209511492	0.00993	T	0.945705	0.79334	D	0.5837768	0.71814	0.39995903	0.64545	0.5837768	0.71815	0.39995903	0.64545	-12.306	0.86310	D	.	.	0.572	0.67702	P	.;.;.;.	.;.;.;.	4.149057	0.62223	24.4	0.99497359993279333	0.67801	0.98307	0.81472	D	AEFBI	0.886248	0.81748	D	0.55790229130904	0.70566	5.520137	0.518921067155833	0.69263	5.335682	0.99920780657887	0.38742	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.96	3.96	0.45097	7.837000	0.85014	3.828000	0.39982	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:1.0:0.0:0.0	13.972	0.63758	982	0.03397	WD40-repeat-containing domain;.;.;WD40-repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1637.98	37	chr19	3000657	.	C	T	1637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.230e-01;DP=778;ExcessHet=0.0000;FS=1.752;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.83;ReadPosRankSum=0.717;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,43:87:99:0|1:3000657_C_T:1652,0,1605:3000657	20	0	1	0
chr19	3425109	3425109	C	A	exonic	NFIC	.	nonsynonymous SNV	NFIC:NM_001245002:exon3:c.C566A:p.A189E	.	.	.	.	.	.	.	.	.	.	.	2330754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.069	B	0.037	B	0.040	U	1.000	D	0.69	N	0.96	T	-1.024	T	0.077	T	0.418	1.393	10.59	3.28	1.385	6.032	13.126	0.134	0.0324082713055	0.0008	0.000199681	0.0006	0.0005	0.0006	0	0	0.0009	0.0025	0	0.0006986	108	154602	rs145828739	0.0009	0.0009	0.0009	0.0009	0.0016	0.0009	0.0008	0.0011	0.0010	0.0001	0.0007	0	0	3.791e-05	0.0016	0.0011	0.0007	0	0.0009	0.0009	0.0009	0.0008	0.0027	0.0008	0.0007	0.0020	0.0018	0.0003	0	0.0027	0	0	0	0	0.0011	0.0033	0	0.005	0.63226	D	0.102	0.38450	T	0.05	0.23796	B	0.033	0.23121	B	0.040206	0.24084	U	0.362994	0.998934	0.81001	D	1.245	0.31408	L	0.96	0.42888	T	-1.35	0.33598	N	0.455	0.53357	-1.0238	0.22476	T	0.077	0.30706	T	10	0.017503679	0.00374	T	0.032408	0.54241	D	0.134	0.36365	.	.	0.41960043425	0.41580	0.5398954167050305	0.53914	0.633592584387	0.57251	0.525960445404	0.42466	T	0.152524	0.49296	T	-0.389146	0.02725	T	-0.372291	0.36622	T	0.0419613113882608	0.04048	T	0.948305	0.80045	D	0.12453583	0.29218	0.23399197	0.48604	0.12453583	0.29218	0.23399197	0.48603	-4.398	0.29530	T	.	.	0.177	0.40889	B	.;.;.;.;.;.	.;.;.;.;.;.	3.205562	0.43612	21.8	0.94780113911716057	0.25509	0.87707	0.47337	D	AEFBI	0.676336	0.64141	D	-0.435062917479969	0.24249	1.308035	-0.388903045989948	0.25326	1.39212	0.999696353172108	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	3.28	3.28	0.36691	5.958000	0.70050	5.820000	0.50076	0.596000	0.33519	0.560000	0.27425	0.785000	0.26813	0.647000	0.32611	0.0:1.0:0.0:0.0	13.126	0.58776	976	0.04745	CTF transcription factor/nuclear factor 1, DNA-binding domain;.;.;.;.;CTF transcription factor/nuclear factor 1, DNA-binding 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	480.98	34	chr19	3425109	.	C	A	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.200e-01;DP=789;ExcessHet=0.0000;FS=1.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.87;ReadPosRankSum=1.43;SOR=0.936	GT:AD:DP:GQ:PL	0/1:56,26:82:99:495,0,1412	20	0	1	0
chr19	3633439	3633439	T	C	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.A2002G:p.T668A,	Lethal congenital contractural syndrome 3, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	0.0570	0.174	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.003	B	0.001	U	1.000	D	0.345	N	1.42	T	-1.085	T	0.045	T	0.347	2.741	15.13	3.39	1.325	3.007	11.305	0.070	0.195228640087	.	.	5.106e-05	0	0	0	0	0	0	0.0007	1.94e-05	3	154602	rs574992169	1.192e-05	1.437e-05	4.371e-06	1.98e-05	0.0002	7.05e-06	5.71e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	1.315e-05	1.313e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.003	0.08700	B	0.001160	0.40056	U	0.100852	1	0.81001	D	0.975	0.24501	L	1.42	0.33189	T	-1.42	0.34992	N	0.555	0.58031	-1.0850	0.06407	T	0.045	0.19316	T	10	0.11431903	0.21504	T	0.195229	0.86409	D	0.070	0.20419	0.149	0.05238	0.158540857583	0.15491	.	.	0.393172029493	0.40493	0.767302453518	0.77020	T	0.143824	0.48014	T	-0.084892	0.38915	T	-0.359718	0.38086	T	0.386096883022631	0.28416	T	0.638636	0.25202	T	0.3363771	0.55990	0.25766122	0.51487	0.3363771	0.55990	0.25766122	0.51486	-2.815	0.08322	T	.	.	0.072	0.04277	B	.	.	3.327272	0.45789	22.2	0.98847816077936002	0.47237	0.85349	0.44473	D	AEFDBI	0.459520	0.51009	N	-0.35204824175448	0.27197	1.490236	-0.203422039996571	0.31413	1.777534	0.0195240979268175	0.13170	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	3.39	0.37919	4.872000	0.62744	4.691000	0.44365	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:0.0:0.0:1.0	11.305	0.48565	964	0.07719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	898.98	33	chr19	3633439	.	T	C	898.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.940e-01;DP=816;ExcessHet=0.0000;FS=1.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-6.710e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:34,38:72:99:913,0,896	20	0	1	0
chr19	3728427	3728427	G	A	exonic	TJP3	.	nonsynonymous SNV	TJP3:NM_001267561:exon2:c.G22A:p.A8T,	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.253	B	0.087	B	0.384	N	0.581	N	0.345	N	2.36	T	-0.919	T	0.016	T	0.016	-0.165	3.195	-3.19	-0.242	-1.092	7.732	0.048	0.0236393588376	.	.	1.69e-05	0	0	0	0	3.069e-05	0	0	1.29e-05	2	154602	rs773191273	5.062e-05	5.062e-05	6.125e-05	3.988e-05	0.0007	4.125e-05	3.778e-05	0.0002	0.0001	0	6.708e-05	0	0	0	0.0007	5.486e-05	6.623e-05	2.319e-05	3.942e-05	3.94e-05	2.569e-05	5.38e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	4.824e-05	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	0.076	0.42614	T	0.16	0.28337	B	0.087	0.29615	B	0.384002	0.13349	N	0.486110	0.999998	0.31099	N	.	.	.	3.21	0.16089	T	.	.	.	0.12	0.11054	-0.9194	0.45635	T	0.016	0.06616	T	10	0.035661697	0.01825	T	0.023639	0.46609	T	.	.	.	.	0.0138822411134	0.00435	0.14970632029613892	0.14892	0.119140381847	0.13418	0.475925952196	0.35496	T	.	.	.	-0.549294	0.00294	T	-0.840895	0.01085	T	0.027890009721931	0.01672	T	0.580242	0.20999	T	.	.	.	.	.	.	.	.	-4.217	0.30954	T	.	.	0.100	0.17232	B	.;.	.;.	0.802651	0.11733	8.311	0.69587505812338879	0.09020	0.03000	0.07863	N	AEFDGBI	0.102305	0.20526	N	-1.24484376242009	0.04368	0.1969956	-1.28825637381235	0.04588	0.2167878	0.994052164717658	0.33468	0.741868	0.97996	0	0.547309	0.14657	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	3.9	-3.19	0.04853	-1.351000	0.02729	-0.571000	0.08426	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.778000	0.36829	0.0:0.3563:0.2918:0.3518	7.732	0.27957	970	0.06235	.;.	.	.	.	.	.	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	1283.98	33	chr19	3728427	.	G	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.367;DP=784;ExcessHet=0.0000;FS=3.184;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=-9.540e-01;SOR=1.162	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1298,0,712	20	0	1	0
chr19	3964963	3964963	G	A	exonic	DAPK3	.	nonsynonymous SNV	DAPK3:NM_001348:exon3:c.C91T:p.R31W	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.854	P	0.003	N	0.999	D	1.65	L	0.95	T	-0.760	T	0.200	T	0.526	4.254	22.2	5.43	2.542	4.177	18.226	0.213	0.0240310286218	0.0002	.	0.0003	0	8.672e-05	0	0	0.0004	0	0.0002	0.0002264	35	154602	rs199986718	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0.0002	0	2.521e-05	1.936e-05	0.0014	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.717e-05	0.0002	0.0002	2.408e-05	0	0	0	0	0	0	0.0003	0.0005	0.0004	0.019	0.50132	D	0.005	0.72224	D	0.998	0.73220	D	0.854	0.60866	P	0.003266	0.35183	N	0.231703	0.999488	0.47237	D	1.705	0.44259	L	0.95	0.43279	T	-4.98	0.82141	D	0.683	0.69125	-0.7605	0.57379	T	0.200	0.55569	T	10	0.4154654	0.56511	T	0.024031	0.47011	T	0.213	0.50496	.	.	0.698531932334	0.69592	0.5850150405861305	0.58431	1.69861405098	0.90253	0.604177474976	0.53494	T	0.289675	0.66246	T	-0.277954	0.10885	T	-0.324659	0.42062	T	0.192565472299172	0.19994	T	0.958404	0.84591	D	0.58896416	0.72094	0.52240056	0.72407	0.58896416	0.72096	0.52240056	0.72408	-11.557	0.82627	D	.	.	0.149	0.35331	B	.;.;.;.;.	.;.;.;.;.	4.662087	0.74425	26.2	0.99926078931267803	0.99103	0.88057	0.47821	D	AEFGBCI	0.865512	0.78463	D	0.590280975396104	0.72568	5.826172	0.586416865947851	0.73965	6.057492	0.999975636875755	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	5.081000	0.64274	4.880000	0.45656	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.0:0.0:1.0:0.0	18.226	0.89853	867	0.32089	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1086.98	39	chr19	3964963	.	G	A	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.861;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.017;SOR=0.729	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1101,0,818	20	0	1	0
chr19	4402780	4402780	G	T	exonic	CHAF1A	.	nonsynonymous SNV	CHAF1A:NM_005483:exon1:c.G18T:p.E6D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.884	P	0.337	B	.	.	0.996	N	1.7	L	0.46	T	-0.944	T	0.137	T	0.186	3.116	16.41	3.28	1.176	0.824	7.003	0.065	0.589080431548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.245	0.92824	T	0.884	0.48618	P	0.337	0.42281	B	.	.	.	.	0.99648	0.23000	N	1.955	0.52871	M	0.46	0.56281	T	-0.63	0.18459	N	0.138	0.13626	-0.9444	0.41911	T	0.137	0.45394	T	9	0.29641056	0.47206	T	0.58908	0.96344	D	0.065	0.18881	0.105	0.01753	0.554306714541	0.55088	0.07627587326054276	0.07563	0.197662092278	0.22136	0.829808712006	0.86532	D	0.033516	0.22947	T	-0.144972	0.29101	T	-0.446019	0.28136	T	0.490127116441727	0.32269	T	0.442656	0.13966	T	0.12533371	0.29384	0.26069233	0.51835	0.12533371	0.29384	0.26069233	0.51834	-3.624	0.18204	T	.	.	0.102	0.32178	B	.;.	.;.	2.513978	0.32476	19.05	0.98177472073941874	0.38916	0.71218	0.34919	D	AEFDGBHCI	0.052364	0.09339	N	0.121826513671051	0.47482	2.973341	0.113204131266011	0.45224	2.789322	0.999999999978128	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.32	3.28	0.36691	0.953000	0.28759	2.097000	0.30581	0.581000	0.30040	0.833000	0.30177	1.000000	0.68203	0.718000	0.34707	0.0933:0.0:0.7363:0.1704	7.003	0.23999	840	0.37365	Chromatin assembly factor 1 subunit A, N-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	0.05556	31.12	6	chr19	4402780	.	G	T	31.12	.	AC=2;AF=0.056;AN=36;DP=120;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5228;MLEAC=1;MLEAF=0.028;MQ=60.00;QD=15.56;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	17	1	0	3
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	1/1:0,478,0:478:99:.:.:14569,1433,0,14569,1433,14569	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	1|1:2,127,0:129:99:1|1:4511713_T_C:5353,337,0,5359,382,5405:4511713	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|2:13,0,110:123:99:0|1:4511713_T_C:4472,4512,5019,0,507,176:4511713	0	0	0	8
chr19	4512339	4512339	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A1621G:p.S541G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.049	N	1.000	N	-2.445	N	4.56	T	-0.928	T	0.002	T	0.099	-0.625	1.226	2.97	1.163	-0.739	9.417	0.078	0.0179713203817	.	.	4.977e-05	0.0002	8.658e-05	0	0	4.502e-05	0	0	3.88e-05	6	154602	rs749342624	1.327e-05	0.0002	1.39e-05	1.264e-05	0.0011	8.49e-06	6.84e-06	0.0005	0.0003	3.129e-05	4.924e-05	0	0	0	0.0011	8.207e-06	0	1.193e-05	0.0010	0.0071	0.0010	0.0010	0.0017	0.0008	0.0008	0.0013	0.0012	0.0017	0.0031	0.0006	0.0007	0.0003	0.0005	0.0066	0.0007	0	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.049403	0.23163	N	0.306229	1	0.08975	N	-1.225	0.00812	N	4.56	0.01933	T	1.8	0.00513	N	0.106	0.09066	-0.9284	0.44371	T	0.002	0.00526	T	10	0.024392366	0.00669	T	0.017971	0.39871	T	0.078	0.22779	.	.	0.0297737177859	0.01360	0.01965828940671712	0.01918	.	.	0.235923826694	0.02435	T	0.006761	0.06189	T	-0.387761	0.02781	T	-0.794768	0.02036	T	0.0261114344934022	0.01421	T	0.0674933	0.00492	T	0.031633087	0.03040	0.045960687	0.06299	0.031633087	0.03039	0.045960687	0.06299	0.865	0.00150	T	.	.	0.047	0.00165	B	.;.	.;.	-0.359574	0.02367	0.259	0.13260958036853626	0.00256	0.00356	0.01829	N	AEFDBCI	0.033756	0.04062	N	-1.53602945640862	0.01618	0.07072448	-1.36755037112785	0.03604	0.168422	0.0222299585153531	0.13414	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.12	2.97	0.33479	0.306000	0.19030	-9.355000	0.00832	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8277:0.0:0.1723	9.417	0.37693	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	6516.98	299	chr19	4512339	.	T	C	6516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.886e+00;DP=7100;ExcessHet=0.0000;FS=8.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=1.01;QD=18.20;ReadPosRankSum=0.365;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,180:358:99:0|1:4512339_T_C:6531,0,6532:4512339	20	0	1	0
chr19	4512360	4512360	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A1600G:p.T534A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.146	B	0.06	B	0.000	D	0.999	N	0.68	N	3.48	T	-0.967	T	0.011	T	0.16	1.200	9.876	1.86	0.274	1.875	5.075	0.035	0.0106210646735	.	.	8.287e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs769718990	4.801e-06	6.159e-06	6.824e-06	2.758e-06	0.0010	2e-06	1.28e-06	0.0005	0.0003	0	0	0	2.52e-05	0	0.0010	0	0	0	0	3.303e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.073	0.34800	T	0.09	0.40586	T	0.146	0.27821	B	0.06	0.26717	B	0.000140	0.49741	D	0.000000	0.998862	0.21844	N	1.795	0.47270	L	3.48	0.05130	T	-2.19	0.49352	N	0.172	0.22486	-0.9670	0.37814	T	0.011	0.04227	T	10	0.113607466	0.21348	T	0.010621	0.27366	T	0.035	0.08770	0.358	0.36060	0.0401082797425	0.02173	0.03772965988602045	0.03718	.	.	0.285797029734	0.08313	T	0.026942	0.19836	T	-0.387975	0.02771	T	-0.625947	0.10725	T	0.0776469900287054	0.09682	T	0.476852	0.14398	T	0.05802467	0.11622	0.051841173	0.08425	0.05802467	0.11621	0.051841173	0.08425	-5.824	0.44783	T	.	.	0.092	0.13737	B	.;.	.;.	0.497738	0.08667	5.440	0.93834051117699557	0.23823	0.15442	0.18914	N	AEFDBCI	0.086028	0.17442	N	-0.814463315534122	0.12941	0.6341316	-0.816294139803543	0.14100	0.7350504	0.00106636464167736	0.08183	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	5.13	1.86	0.24489	-0.030000	0.12257	-11.234000	0.00623	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2478:0.1467:0.6056	5.075	0.13961	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	1	0	0	0	0.025	6782.33	299	chr19	4512360	.	T	C	6782.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.490e+00;DP=7253;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=59.88;MQRankSum=0.982;QD=17.53;ReadPosRankSum=0.619;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,189:387:99:0|1:4512339_T_C:6796,0,7058:4512339	19	0	1	1
chr19	5925710	5925710	C	T	exonic	RANBP3	.	nonsynonymous SNV	RANBP3:NM_001300865:exon9:c.G622A:p.D208N	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.98	D	0.564	P	0.004	N	1.000	N	2.14	M	2.17	T	-1.039	T	0.078	T	0.029	3.310	17.13	3.07	0.698	2.911	8.220	0.093	0.0195742054092	0.0055	0.00339457	0.0029	0.0068	0.0012	0	0.0008	0.0035	0.0022	0.0020	0.0031177	482	154602	rs115320782	0.0036	0.0036	0.0036	0.0036	0.0082	0.0035	0.0035	0.0074	0.0071	0.0082	0.0019	0.0018	0	0.0006	0.0080	0.0039	0.0039	0.0023	0.0048	0.0048	0.0050	0.0046	0.0081	0.0045	0.0044	0.0074	0.0071	0.0081	0	0.0040	0.0023	0	9.497e-05	0.0034	0.0045	0.0033	0.0023	0.005	0.65419	D	0.472	0.23707	T	0.98	0.59353	D	0.467	0.49695	P	0.003787	0.34487	N	0.328805	1	0.08975	N	2.25	0.63811	M	1.4	0.33630	T	-0.04	0.09965	N	0.255	0.32701	-1.0388	0.17678	T	0.078	0.30982	T	10	0.004562199	0.00095	T	0.019574	0.41966	T	0.093	0.26882	.	.	0.679392915212	0.67666	0.28106345326371174	0.28019	0.482718603347	0.47231	0.426327586174	0.28706	T	0.037776	0.24600	T	-0.61119	0.00125	T	-0.64417	0.09368	T	0.0221803522844544	0.00930	T	0.90061	0.66351	D	0.038662925	0.05192	0.04200048	0.04901	0.038662925	0.05192	0.04200048	0.04901	-3.708	0.20417	T	.	.	0.065	0.09045	B	.;.;.;.;.	.;.;.;.;.	2.974667	0.39663	21.0	0.99605643164038427	0.74456	0.42326	0.26853	N	AEFBI	0.197326	0.32426	N	-0.173321446461632	0.34248	1.952552	-0.298994844908106	0.28132	1.566118	0.998059588828668	0.36367	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	3.07	0.34476	2.972000	0.48948	3.288000	0.37283	0.599000	0.40250	0.550000	0.27346	0.993000	0.31925	0.106000	0.18562	0.0:0.8159:0.0:0.1841	8.220	0.30692	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3753.11	40	chr19	5925710	.	C	T	3753.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.86;DP=999;ExcessHet=0.1072;FS=12.799;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-5.370e-01;SOR=1.289	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1588,0,1761	19	0	2	0
chr19	6380979	6380979	G	A	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon11:c.C1156T:p.R386C,	.	.	423	1090	9	0	0	9	0.00411147	.	.	2193921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.116	B	0.049	B	0.000	D	1.000	D	2.365	M	0.6	T	-0.851	T	0.161	T	0.698	2.789	15.29	3.42	1.001	6.680	6.967	0.247	0.236245696517	0.0002	0.000199681	0.0007	0	0.0009	0	0	0.0007	0.0021	0.0012	0.0002975	46	154602	rs143977043	0.0003	0.0003	0.0002	0.0003	0.0065	0.0002	0.0002	0.0049	0.0043	2.996e-05	0.0005	0	0	3.828e-05	0.0065	0.0002	0.0005	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0019	0.0006	0.0	0.91255	D	0.005	0.72224	D	0.018	0.17786	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.96	0.53105	M	0.6	0.53731	T	-4.19	0.75615	D	0.609	0.62611	-0.8506	0.51926	T	0.161	0.49565	T	10	0.06654683	0.09145	T	0.236246	0.88491	D	0.247	0.55478	.	.	0.636863403956	0.63387	0.4366674256342794	0.43583	1.05154938784	0.76170	0.741911053658	0.73254	T	0.357376	0.72409	T	-0.159258	0.26873	T	-0.102377	0.63214	T	0.164372265338898	0.18189	T	0.90061	0.65471	D	0.61107814	0.73285	0.37903827	0.62967	0.61107814	0.73286	0.37903827	0.62967	-8.926	0.67219	D	.	.	0.628	0.71754	P	.;.	.;.	5.449923	0.91039	32	0.99826892537896306	0.90939	0.94175	0.60340	D	AEFDBCI	0.770420	0.70538	D	-0.214242194363516	0.32548	1.836802	-0.161112995810456	0.32982	1.881973	0.855252726918186	0.25120	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.46	3.42	0.38259	5.656000	0.67659	6.402000	0.55579	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.768000	0.36443	0.0922:0.0:0.7364:0.1714	6.967	0.23806	748	0.52143	.;.	.	.	.	.	.	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	793.98	34	chr19	6380979	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.050e-01;DP=757;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-2.417e+00;SOR=0.337	GT:AD:DP:GQ:PL	0/1:28,32:60:99:808,0,673	20	0	1	0
chr19	7869373	7869378	GCCCCG	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon6:c.3696_3701del:p.G1233_A1234del,	.	.	210	1311	1	0	0	1	0.000381243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs917211595	7.4e-05	7.867e-05	8.28e-05	6.492e-05	0.0011	6.181e-05	5.74e-05	0.0004	0.0003	3.961e-05	0.0007	0	3.505e-05	3.161e-05	0.0011	6.167e-05	0.0002	1.529e-05	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	7.215e-05	0	0.0010	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	931.94	36	chr19	7869372	.	CGCCCCG	C	931.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.825;DP=713;ExcessHet=0.0000;FS=3.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.52;ReadPosRankSum=-1.408e+00;SOR=1.519	GT:AD:DP:GQ:PL	0/1:14,24:38:99:946,0,515	20	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	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	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,16:74:44:.:.:44,0,1213	10	0	10	1
chr19	7872938	7872938	C	G	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon4:c.G398C:p.G133A,	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	.	.	.	.	.	.	1.000	D	0.345	N	.	.	-1.063	T	0.100	T	0.177	0.852	8.448	3.46	1.898	1.827	11.170	0.024	0.027332681776	.	.	0.0003	0	0	0	0	0.0008	0	0.0001	3.88e-05	6	154602	rs757768325	0.0002	0.0002	0.0002	0.0002	0.0135	0.0002	0.0002	0.0111	0.0102	3.165e-05	0.0003	0	0	0	0.0135	9.454e-05	0.0006	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	8.16e-05	6.718e-05	8.868e-05	5.28e-05	2.404e-05	0	0.0003	0	0	0	0.0068	0.0001	0.0014	0	.	.	.	0.519	0.10501	T	.	.	.	.	.	.	.	.	.	.	0.998855	0.21853	N	.	.	.	.	.	.	.	.	.	0.444	0.48227	-1.0626	0.11118	T	0.100	0.37085	T	6	0.069595695	0.10007	T	0.027333	0.50151	D	.	.	.	.	0.0551355673512	0.04727	0.06503835109158722	0.06442	.	.	0.470769077539	0.34786	T	0.017822	0.14473	T	-0.365732	0.03816	T	-0.455708	0.27068	T	0.0402286164462566	0.03733	T	0.584642	0.21276	T	0.07944488	0.18149	0.14051548	0.33492	0.07944488	0.18149	0.14051548	0.33491	-3.489	0.16278	T	.	.	0.231	0.46354	B	.	.	2.751759	0.36070	20.2	0.92885372745075923	0.22436	0.60495	0.31212	D	AEFDBCI	0.147436	0.27111	N	-0.263296186958501	0.30575	1.706188	-0.231215992149011	0.30424	1.712893	0.999995095554265	0.74766	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	3.46	3.46	0.38718	2.156000	0.41936	3.459000	0.38500	0.549000	0.26987	0.042000	0.21073	0.998000	0.33993	0.188000	0.21541	0.0:1.0:0.0:0.0	11.170	0.47791	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	860.98	45	chr19	7872938	.	C	G	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=828;ExcessHet=0.0000;FS=1.913;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.238;SOR=0.930	GT:AD:DP:GQ:PL	0/1:40,33:73:99:875,0,1033	20	0	1	0
chr19	8091568	8091568	C	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon48:c.G5928T:p.E1976D	.	.	372	1148	2	0	0	2	0.000870322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.121	B	0.069	B	0.000	U	0.986	D	-0.67	N	-2.23	D	-1.074	T	0.051	T	0.131	0.331	5.794	-0.654	0.325	0.085	5.598	0.032	0.0145337712162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	4.084e-06	4.126e-06	2.519e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	2.519e-05	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.05357	T	0.404	0.14818	T	0.121	0.26708	B	0.069	0.27757	B	0.000184	0.48115	U	0.177050	0.986345	0.40418	D	-0.48	0.02689	N	-2.23	0.87116	D	-0.28	0.11547	N	0.148	0.18512	-1.0744	0.08472	T	0.051	0.21650	T	10	0.07459852	0.11424	T	0.014534	0.34707	T	0.193	0.47281	0.448	0.50793	0.741102556798	0.73878	0.5925443674499787	0.59184	0.216610546956	0.24181	0.374362260103	0.21456	T	0.066088	0.32855	T	-0.105413	0.35528	T	-0.389195	0.34645	T	0.129772022366524	0.15361	T	0.747925	0.36851	T	0.097245425	0.22920	0.053986907	0.09201	0.097245425	0.22920	0.053986907	0.09200	-5.009	0.36938	T	.	.	0.097	0.15654	B	.;.;.	.;.;.	1.207499	0.16000	12.25	0.72846141080354154	0.10116	0.75449	0.36941	D	AEFBI	0.310300	0.41636	N	-0.475793937373905	0.22875	1.224557	-0.479643415959389	0.22714	1.235156	0.0940004901510478	0.16195	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.45	-0.654	0.10868	0.124000	0.15557	.	.	0.596000	0.33519	0.955000	0.33325	0.000000	0.08366	0.679000	0.33513	0.1359:0.6274:0.0:0.2367	5.598	0.16623	758	0.50837	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-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	1	0	0	0	0.02381	833.98	43	chr19	8091568	.	C	A	833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.220e-01;DP=816;ExcessHet=0.0000;FS=2.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=1.16;SOR=1.068	GT:AD:DP:GQ:PL	0/1:32,31:63:99:848,0,839	20	0	1	0
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	0/1:95,8:103:13:.:.:13,0,3942	11	0	5	5
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T,	.	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.831	P	0.824	P	.	.	.	.	.	.	4.62	T	-1.022	T	0.007	T	0.058	0.123	4.662	-0.566	-0.690	-0.913	4.301	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	240.03	93	chr19	8888087	.	A	G	240.03	.	AC=3;AF=0.100;AN=30;BaseQRankSum=3.33;DP=1799;ExcessHet=0.3300;FS=3.998;InbreedingCoeff=-0.1687;MLEAC=4;MLEAF=0.133;MQ=59.66;MQRankSum=-4.196e+00;QD=0.85;ReadPosRankSum=-3.330e-01;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,8:98:59:0|1:8888087_A_G:59,0,3722:8888087	12	0	3	6
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	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	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:507,43,51:601:99:.:.:127,0,22077,380,15798,16586	8	0	6	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P,	.	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.964	D	.	.	.	.	1.04	L	1.83	T	-0.975	T	0.078	T	0.685	2.193	13.29	1.26	0.083	0.610	2.783	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3176.11	382	chr19	8888746	.	T	G	3176.11	.	AC=7;AF=0.194;AN=36;BaseQRankSum=0.772;DP=10365;ExcessHet=2.5830;FS=7.108;InbreedingCoeff=-0.2519;MLEAC=8;MLEAF=0.222;MQ=55.81;MQRankSum=-1.024e+01;QD=0.81;ReadPosRankSum=-3.634e+00;SOR=1.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:562,43:605:99:.:.:114,0,23441	11	0	7	3
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I,	.	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.964	D	.	.	.	.	2.79	M	1.22	T	-0.601	T	0.206	T	0.319	0.402	6.184	0.756	0.311	2.938	8.036	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5532.55	398	chr19	8888763	.	G	A	5532.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.400e-01;DP=10822;ExcessHet=2.5830;FS=10.808;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=55.93;MQRankSum=-8.753e+00;QD=1.32;ReadPosRankSum=-9.860e-01;SOR=1.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:565,50:615:99:0|1:8888763_G_A:399,0,23463:8888763	14	0	7	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R,	.	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.918	P	0.884	P	.	.	.	.	2.455	M	1.54	T	-0.672	T	0.209	T	0.143	0.603	7.250	1.93	0.542	-0.004	4.795	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA 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	0.125	5178.17	410	chr19	8888772	.	T	C	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-7.350e-01;DP=11084;ExcessHet=1.1607;FS=20.381;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=55.59;MQRankSum=-8.634e+00;QD=1.74;ReadPosRankSum=0.031;SOR=2.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:566,51:617:99:0|1:8888763_G_A:438,0,23613:8888763	15	0	5	1
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	0/1:274,90,52,0:416:99:.:.:3520,0,11494,1569,9596,13178,4514,11625,13198,17593	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|1:264,87,52:403:99:0|1:8888826_T_*:2870,0,10821,1481,8913,12410:8888826	1	0	19	0
chr19	8888876	8888876	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.T40623G:p.D13541E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.981	D	.	.	.	.	1.87	L	0.93	T	-0.870	T	0.138	T	0.106	1.808	12.01	1.34	0.110	-2.020	5.128	0.020	0.0184576829843	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	.	5.187e-06	0.0002	1.454e-06	9.063e-06	7.562e-05	2.16e-06	1.39e-06	2.908e-05	1.903e-05	0	0	0	0	0	0	1.894e-06	0	7.562e-05	6.798e-06	0.0010	1.324e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.43	0.14390	N	0.28	0.31702	-0.8696	0.50559	T	0.138	0.45451	T	8	0.102479935	0.18784	T	0.018458	0.40531	T	0.039	0.10176	.	.	0.258283824007	0.25425	0.03204328302232783	0.03152	.	.	0.32660266757	0.14420	T	.	.	.	-0.294743	0.09164	T	-0.661154	0.08189	T	0.18441400232506	0.19509	T	0.513049	0.16451	T	.	.	.	.	.	.	.	.	-7.397	0.56883	T	.	.	0.179	0.38959	B	.	.	0.370493	0.07427	4.059	0.97250488420208558	0.33038	0.04086	0.09547	N	AEFDBI	0.058217	0.10907	N	-0.810373198274173	0.13044	0.6399203	-0.987335908183308	0.10069	0.5048391	7.79589708737315E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	1.34	0.21018	-1.962000	0.01605	.	.	0.710000	0.85309	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7372:0.0:0.2628:0.0	5.128	0.14225	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1768.1	212	chr19	8888876	.	AT	A,CT	1768.1	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=4.52;DP=5111;ExcessHet=1.7912;FS=20.289;InbreedingCoeff=-0.1690;MLEAC=3,3;MLEAF=0.071,0.071;MQ=57.83;MQRankSum=-6.910e-01;QD=1.13;ReadPosRankSum=0.837;SOR=3.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:206,0,21:227:99:.:.:238,858,9456,0,8608,8923	15	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E,	.	.	417	1065	39	1	0	41	0.0188853	.	.	3221801	MUC16-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.982	D	0.455	P	.	.	.	.	0.85	L	4.58	T	-0.922	T	0.007	T	0.152	-0.449	1.920	0.009	-0.043	-3.145	3.969	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	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	0.1429	1154.03	47	chr19	8900001	.	C	T	1154.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.290e-01;DP=2853;ExcessHet=1.7912;FS=1.022;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.31;MQRankSum=-1.443e+01;QD=0.76;ReadPosRankSum=1.80;SOR=0.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,25:282:99:0|1:8900000_C_T:276,0,10675:8900000	15	0	6	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|1:258,27:285:99:0|1:8900000_C_T:357,0,10727:8900000	8	0	13	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A,	.	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.982	D	.	.	.	.	1.825	L	4.5	T	-1.049	T	0.019	T	0.119	0.149	4.800	1.42	1.067	0.380	6.239	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	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	0.1667	1286.53	209	chr19	8908637	.	C	G	1286.53	.	AC=6;AF=0.167;AN=36;BaseQRankSum=2.54;DP=3325;ExcessHet=1.7912;FS=9.333;InbreedingCoeff=-0.2165;MLEAC=7;MLEAF=0.194;MQ=58.51;MQRankSum=-1.077e+01;QD=1.08;ReadPosRankSum=0.914;SOR=1.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:180,16:196:99:.:.:130,0,7453	12	0	6	3
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H,	.	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.553	P	0.146	B	.	.	.	.	1.115	L	4.53	T	-0.965	T	0.005	T	0.122	-0.518	1.634	-2.84	-0.932	-2.451	2.526	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	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	0.1579	1251.42	202	chr19	8908644	.	C	G	1251.42	.	AC=6;AF=0.158;AN=38;BaseQRankSum=2.54;DP=3367;ExcessHet=1.7912;FS=9.055;InbreedingCoeff=-0.2014;MLEAC=6;MLEAF=0.158;MQ=58.24;MQRankSum=-1.070e+01;QD=1.05;ReadPosRankSum=1.39;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:175,16:191:99:.:.:145,0,7280	13	0	6	2
chr19	8960112	8960112	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16658G:p.T5553S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.039	B	0.01	B	.	.	.	.	0.46	N	4.32	T	-0.975	T	0.006	T	0.073	0.140	4.751	0.516	0.246	-0.156	4.470	0.020	0.000557080928074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.829	0.03728	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.32	0.02387	T	-0.21	0.10308	N	0.075	0.04913	-0.9746	0.36213	T	0.006	0.02093	T	8	0.07552707	0.11684	T	5.57E-4	0.00221	T	0.020	0.03691	0.185	0.09388	0.0551355673512	0.04727	0.035792942912204175	0.03526	.	.	0.202649399638	0.00538	T	.	.	.	-0.349539	0.04756	T	-0.739865	0.03897	T	0.0618408806247755	0.07456	T	0.175282	0.01690	T	.	.	.	.	.	.	.	.	-6.16	0.47598	T	.	.	0.152	0.33687	B	.	.	-0.090120	0.03699	0.754	0.29992123822200517	0.01618	0.01671	0.05346	N	AEFBI	0.022470	0.01128	N	-1.07162818838596	0.07170	0.3322678	-1.15085085909645	0.06753	0.3261131	1.23712550126271E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	0.516	0.16217	0.166000	0.16400	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2126:0.0:0.7874:0.0	4.470	0.11128	905	0.23532	.	.	.	.	.	.	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	0.07895	538.84	122	chr19	8960112	.	G	C	538.84	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-6.244e+00;DP=3173;ExcessHet=0.3300;FS=139.984;InbreedingCoeff=-0.1054;MLEAC=3;MLEAF=0.079;MQ=59.98;MQRankSum=0.00;QD=0.86;ReadPosRankSum=1.27;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,34:225:99:0|1:8960112_G_C:103,0,7252:8960112	16	0	3	2
chr19	8960119	8960119	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16651G:p.L5551V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.161	B	0.02	B	.	.	.	.	0.55	N	4.12	T	-0.930	T	0.006	T	0.049	-0.281	2.657	-2.32	-0.560	-0.071	2.671	0.009	0.000543875640918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0046	0.0004	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0003	0	7.709e-05	2.528e-05	1.873e-05	0.0005	0.0004	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.17	0.30436	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.12	0.02891	T	-0.47	0.15178	N	0.033	0.00882	-0.9298	0.44168	T	0.006	0.01870	T	8	0.085291326	0.14384	T	5.44E-4	0.00196	T	0.009	0.00846	0.365	0.37199	0.0666544352282	0.05500	0.015111024971760428	0.01467	.	.	0.188878178596	0.00206	T	.	.	.	-0.389004	0.02730	T	-0.796554	0.01990	T	0.0609075275757631	0.07310	T	0.254675	0.03932	T	.	.	.	.	.	.	.	.	-2.317	0.04650	T	.	.	0.123	0.25624	B	.	.	0.011736	0.04362	1.121	0.32950984902077818	0.01937	0.01410	0.04768	N	AEFBI	0.025280	0.01704	N	-1.15944051857617	0.05626	0.2569829	-1.2906235606344	0.04556	0.2151828	2.06696283457496E-4	0.05948	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	-2.32	0.06360	-0.454000	0.06845	.	.	-0.409000	0.05269	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3789:0.2604:0.3607:0.0	2.671	0.04752	905	0.23532	.	.	.	.	.	.	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	97.98	150	chr19	8960119	.	G	C	97.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.063e+00;DP=3370;ExcessHet=0.0000;FS=112.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=-5.400e-01;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,34:222:99:0|1:8960112_G_C:112,0,7164:8960112	20	0	1	0
chr19	10338838	10338838	T	C	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.A187G:p.I63V	.	.	427	1086	9	0	0	9	0.00412655	.	.	727847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.013	B	0.766	N	0.997	N	0.835	L	2.54	T	-0.934	T	0.004	T	0.122	0.090	4.483	-5.54	-1.088	-0.532	8.062	0.008	.	0.0009	0.00938498	0.0077	0.0004	0.0003	0.0495	0.0354	0.0028	0.0166	0.0035	0.0067916	1050	154602	rs17697947	0.0043	0.0043	0.0043	0.0044	0.0588	0.0042	0.0042	0.0569	0.0560	0.0002	0.0007	0.0010	0.0588	0.0369	0.0026	0.0013	0.0046	0.0029	0.0058	0.0058	0.0037	0.0079	0.0466	0.0054	0.0053	0.0418	0.0400	0.0003	0	0.0017	0.0003	0.0466	0.0439	0	0.0015	0.0047	0.0039	0.712	0.04020	T	0.819	0.03840	T	0.001	0.07471	B	0.013	0.16460	B	0.766272	0.09582	N	0.853625	1	0.22763	N	1.26	0.31868	L	2.54	0.13916	T	-0.53	0.16393	N	0.06	0.03175	-0.9342	0.43515	T	0.004	0.01435	T	10	0.0026617646	0.00041	T	.	.	.	0.008	0.00669	.	.	0.128392430309	0.12331	0.32726545291155884	0.32639	0.366126919708	0.38193	0.387051075697	0.23253	T	0.03386	0.23088	T	-0.693733	0.00040	T	-0.720596	0.04767	T	0.00489653433331906	0.00053	T	0.50435	0.15896	T	0.101566344	0.23993	0.04078051	0.04486	0.101566344	0.23992	0.04078051	0.04486	-2.093	0.03554	T	.	.	0.136	0.29533	B	.;.	.;.	-0.723412	0.01267	0.066	0.25413303159105682	0.01170	0.04019	0.09450	N	AEFBCIJ	0.052109	0.09270	N	-1.52066017625794	0.01714	0.07501812	-1.57356518576762	0.01819	0.0828294	0.999993280911081	0.74766	0.643511	0.44296	0	0.672317	0.65289	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-5.54	0.02343	-0.529000	0.06273	-1.347000	0.05657	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.218:0.5242:0.2578	8.062	0.29799	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal	.	.	.	.	rs17697947	Likely benign	0	0	0	0	0	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	1619.98	35	chr19	10338838	.	T	C	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=1288;ExcessHet=0.0000;FS=5.030;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-5.030e-01;SOR=1.148	GT:AD:DP:GQ:PL	0/1:82,64:146:99:1634,0,2102	20	0	1	0
chr19	10514794	10514794	A	G	exonic	S1PR5	.	nonsynonymous SNV	S1PR5:NM_001166215:exon2:c.T218C:p.L73P	.	.	425	1093	4	0	0	4	0.00182648	.	.	3473370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.995	D	0.944	D	0.006	U	1.000	D	2.265	M	-0.75	T	-0.011	T	0.496	T	0.825	2.663	14.87	4.27	1.783	1.341	7.064	0.712	0.679527788548	.	.	0.0002	0	0	0.0016	0	0.0001	0	0	0.000194	30	154602	rs761548591	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0	2.24e-05	0	0.0003	0	0.0002	0.0004	0.0001	1.16e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0002	7.234e-05	0	0	0	0.0010	0	0	0.0003	0.0005	0	0.001	0.78490	D	0.009	0.66756	D	0.995	0.67487	D	0.944	0.68059	D	0.005992	0.32354	U	0.205107	0.999944	0.51968	D	2.47	0.71715	M	-0.75	0.73311	T	-3.68	0.70314	D	0.672	0.77883	-0.0109	0.82030	T	0.496	0.80932	T	10	0.39823672	0.55381	T	0.679528	0.97342	D	0.712	0.89741	.	.	0.888659427317	0.88756	0.8825379922872842	0.88221	.	.	0.778529047966	0.78706	T	0.36748	0.73255	T	-0.0704103	0.41262	T	0.0756433	0.75287	D	0.272149087036811	0.23839	T	0.768423	0.39759	T	0.8191208	0.85160	0.852495	0.91672	0.8191208	0.85162	0.852495	0.91672	-7.257	0.55889	T	.	.	0.535	0.68528	A	.;.;.	.;.;.	5.126606	0.85775	28.7	0.99794846928972192	0.88017	0.71460	0.35022	D	AEFDBCI	0.544996	0.55969	D	0.395421654384875	0.61174	4.314936	0.299855094954618	0.55529	3.716085	0.999979508789052	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.27	4.27	0.50009	1.437000	0.34601	11.156000	0.87498	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.678:0.0:0.0:0.322	7.064	0.24318	743	0.52768	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2020.98	35	chr19	10514794	.	A	G	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.530e+00;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-7.170e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:67,79:146:99:2035,0,1743	20	0	1	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	0/2:69,5,63:137:99:2385,2422,5627,0,2590,2537	2	0	2	0
chr19	11806980	11806980	C	T	exonic	ZNF491	.	stopgain	ZNF491:NM_152356:exon3:c.C1027T:p.R343X,	.	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.172	21.6	0.874	0.784	-0.753	6.256	.	.	.	.	8.298e-06	0	8.651e-05	0	0	0	0	0	6.5e-06	1	154602	rs377331762	6.846e-06	6.84e-06	6.811e-06	6.881e-06	2.247e-05	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	2.247e-05	0	0	0	0	7.197e-06	1.657e-05	0	1.314e-05	1.313e-05	0	2.689e-05	2.942e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99996	0.52935	D	.	.	.	.	.	.	.	.	.	0.03	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261997	0.79712	D	0.221429	0.84247	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.743748	0.93344	33	0.95172417754346905	0.26331	0.00005	0.00104	N	AEFDBHCI	0.028908	0.02632	N	-0.0729854780811356	0.38580	2.261795	-0.513282888124042	0.21792	1.180561	1.43374790895349E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.874	0.874	0.18260	-3.265000	0.00591	.	.	-1.061000	0.01617	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4442:0.5558:0.0	6.256	0.20083	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1257.98	34	chr19	11806980	.	C	T	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.878;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.712;SOR=0.737	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1272,0,1331	20	0	1	0
chr19	11830347	11830347	T	C	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon2:c.T68C:p.I23T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.947	P	0.796	P	.	.	1.000	N	-1.08	N	4.75	T	-0.895	T	0.002	T	0.278	1.451	10.80	-3.41	-0.040	-1.177	3.920	0.079	.	0.0072	0.0091853	0.0019	0.0208	0.0010	0	0	8.991e-05	0	0	0.0019275	298	154602	rs189408754	0.0006	0.0006	0.0008	0.0005	0.0210	0.0006	0.0006	0.0197	0.0192	0.0210	0.0007	0	0	0	0.0033	7.464e-05	0.0018	0	0.0056	0.0056	0.0056	0.0056	0.0197	0.0053	0.0052	0.0186	0.0181	0.0197	0	0.0016	0	0	0	0.0068	0.0001	0.0019	0	0.088	0.63226	T	0.012	0.63918	D	0.947	0.53479	P	0.796	0.58006	P	.	.	.	.	1	0.08975	N	-1.135	0.00931	N	4.75	0.01589	T	0.65	0.02598	N	0.208	0.23125	-0.8948	0.48502	T	0.002	0.00646	T	9	0.0033557415	0.00058	T	.	.	.	0.079	0.23065	.	.	0.0401082797425	0.02173	0.020195497461130772	0.01972	0.27316233211	0.29818	0.27852243185	0.07288	T	0.001285	0.00766	T	-0.54193	0.00326	T	-0.534302	0.18859	T	0.0604422312699271	0.07238	T	0.125587	0.00989	T	0.066328056	0.14260	0.11500974	0.27761	0.066328056	0.14259	0.11500974	0.27761	-2.016	0.03242	T	.	.	0.175	0.38227	B	.;.;.	.;.;.	1.454734	0.18762	13.91	0.91513094169479792	0.20788	0.00126	0.00785	N	AEFBI	0.012398	0.00134	N	-1.21816471668593	0.04737	0.2144125	-1.4092032081151	0.03160	0.1468281	3.59743532778547E-5	0.03775	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	1.74	-3.41	0.04535	-0.743000	0.04950	.	.	-0.420000	0.05233	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.2191:0.6021:0.0:0.1787	3.920	0.08741	934	0.15400	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3138.98	37	chr19	11830347	.	T	C	3138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=1076;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=1.18;QD=10.29;ReadPosRankSum=0.938;SOR=0.714	GT:AD:DP:GQ:PL	0/1:181,124:305:99:3153,0,4763	20	0	1	0
chr19	12076870	12076870	A	T	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.A1750T:p.M584L,	.	.	.	.	.	.	.	.	.	.	.	716164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.016	B	0.003	B	.	.	0.997	N	0	N	3.48	T	-0.951	T	0.004	T	0.131	-1.605	0.014	-2.59	-1.001	1.942	3.563	0.090	.	0.0046	0.00499201	0.0028	0.0244	0.0011	0	0	0.0004	0	0	0.0011061	171	154602	rs1438694	0.0005	0.0005	0.0005	0.0004	0.0144	0.0005	0.0004	0.0133	0.0128	0.0144	0.0006	0	0	0	0.0012	0.0001	0.0011	1.234e-05	0.0039	0.0039	0.0039	0.0039	0.0134	0.0036	0.0035	0.0125	0.0121	0.0134	0	0.0009	0	0	0	0.0034	0.0001	0.0033	0	0.028	0.46129	D	0.061	0.45530	T	0.016	0.17332	B	0.003	0.08700	B	.	.	.	.	1	0.22709	N	0	0.06538	N	3.48	0.05130	T	-0.11	0.08653	N	0.142	0.14196	-0.9507	0.40851	T	0.004	0.01400	T	9	0.003086567	0.00051	T	.	.	.	0.090	0.26093	0.29	0.25081	0.0138822411134	0.00435	0.02393644028619184	0.02344	0.0108702573359	0.01009	0.246389761567	0.03397	T	0.00148	0.00934	T	-0.648406	0.00074	T	-0.690541	0.06358	T	0.00120895016004581	0.00012	T	0.257774	0.04077	T	0.1828446	0.39523	0.10088446	0.24136	0.1828446	0.39522	0.10088446	0.24135	-3.115	0.11469	T	.	.	0.137	0.29860	B	.	.	0.122866	0.05201	1.712	0.26974189556124267	0.01317	0.00000	0.00017	N	AEFDBCI	.	.	.	-1.27653048521652	0.03960	0.1778521	-1.37520041902526	0.03518	0.1642742	5.50212493706249E-4	0.07273	0.651	0.46895	0	0.708844	0.79440	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	2.04	-2.59	0.05847	0.178000	0.16634	.	.	0.263000	0.18423	0.001000	0.13787	0.000000	0.08366	0.273000	0.23843	0.4304:0.0:0.3878:0.1818	3.563	0.07443	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	1844.98	34	chr19	12076870	.	A	T	1844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.203;DP=1462;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.678;SOR=0.834	GT:AD:DP:GQ:PL	0/1:89,76:165:99:1859,0,2259	20	0	1	0
chr19	12351287	12351287	G	A	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.C91T:p.R31C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.229	B	0.009	B	.	.	1.000	N	1.04	L	4.03	T	-0.965	T	0.010	T	0.06	0.370	6.011	-3.03	-0.932	0.029	0.622	0.021	0.00111319877763	0.0015	.	0.0006	0.0046	0.0004	0	0	0.0003	0.0011	0	0.0004851	75	154602	rs140568989	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0032	0.0040	0.0006	0	0	0	0.0014	0.0001	0.0006	0	0.0012	0.0012	0.0011	0.0013	0.0038	0.0010	0.0010	0.0033	0.0031	0.0038	0	0.0007	0	0	0	0.0034	0.0001	0.0014	0	0.001	0.91255	D	0.093	0.74150	T	0.229	0.30546	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.29	0.10111	N	3.38	0.06214	T	-3.15	0.64132	D	0.078	0.12484	-0.9648	0.38250	T	0.010	0.03765	T	9	0.0055959225	0.00124	T	0.001113	0.01336	T	0.021	0.04004	.	.	0.132336055621	0.12781	0.0361218227572569	0.03559	0.133363826613	0.15016	0.307441800833	0.11521	T	0.020217	0.15960	T	-0.657751	0.00065	T	-0.717734	0.04906	T	0.025537372383297	0.01343	T	0.313969	0.15921	T	0.11909743	0.28048	0.11636147	0.28090	0.11909743	0.28048	0.11636147	0.28089	-6.215	0.48044	T	.	.	0.096	0.36053	B	.;.;.;.	.;.;.;.	1.423140	0.18405	13.72	0.74188282987068288	0.10603	0.00007	0.00120	N	AEFBCI	0.028845	0.02616	N	-1.39179740925987	0.02714	0.1202485	-1.54573055206153	0.02005	0.09163101	2.65028868752189E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.51	-3.03	0.05100	0.805000	0.26772	.	.	-0.550000	0.04901	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2055:0.3401:0.2097:0.2447	0.622	0.00729	923	0.18507	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	1	0	0	0	0.02381	1720.98	33	chr19	12351287	.	G	A	1720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=803;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.87;ReadPosRankSum=-3.910e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:38,64:102:99:1735,0,836	20	0	1	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|1:84,91,0:175:99:0|1:12430718_C_A:3555,0,3224,3808,3498,7306:12430718	5	4	10	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	0/1:11,14,0,0,0,0,0:25:99:.:.:536,0,419,569,462,1031,569,462,1031,1031,569,462,1031,1031,1031,569,462,1031,1031,1031,1031,569,462,1031,1031,1031,1031,1031	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	0/1:11,14,0,0,0,0,0:25:99:.:.:536,0,419,569,462,1031,569,462,1031,1031,569,462,1031,1031,1031,569,462,1031,1031,1031,1031,569,462,1031,1031,1031,1031,1031	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	0/1:11,14,0,0,0,0,0:25:99:.:.:536,0,419,569,462,1031,569,462,1031,1031,569,462,1031,1031,1031,569,462,1031,1031,1031,1031,569,462,1031,1031,1031,1031,1031	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	0/1:11,14,0,0,0,0,0:25:99:.:.:536,0,419,569,462,1031,569,462,1031,1031,569,462,1031,1031,1031,569,462,1031,1031,1031,1031,569,462,1031,1031,1031,1031,1031	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	0/1:11,14,0,0,0,0,0:25:99:.:.:536,0,419,569,462,1031,569,462,1031,1031,569,462,1031,1031,1031,569,462,1031,1031,1031,1031,569,462,1031,1031,1031,1031,1031	2	3	6	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	0/1:49,12,0:61:99:348,0,2010,504,2046,2550	9	4	7	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.008	B	0.01	B	.	.	1.000	N	0.345	N	0.95	T	-1.008	T	0.053	T	0.128	1.029	9.204	2.05	0.372	0.192	6.843	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	824	0.40336	.	.	.	.	.	.	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	406.69	113	chr19	14053907	.	C	G	406.69	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-3.914e+00;DP=2349;ExcessHet=0.6776;FS=123.470;InbreedingCoeff=-0.2360;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=1.35;SOR=10.386	GT:AD:DP:GQ:PL	0/1:105,29:134:99:159,0,2182	9	0	4	8
chr19	14151447	14151447	A	G	exonic	ADGRL1	.	nonsynonymous SNV	ADGRL1:NM_014921:exon23:c.T3836C:p.I1279T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.25	M	-1.62	D	0.457	D	0.680	D	0.711	2.959	15.86	4.48	1.661	8.874	11.741	0.837	0.481499289193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	-1.62	0.82347	D	-3.8	0.71762	D	0.661	0.74280	0.457	0.89936	D	0.680	0.88933	D	10	0.8749888	0.86784	D	0.481499	0.94849	D	0.837	0.94877	0.732	0.86547	0.361733483669	0.35779	0.808052188254558	0.80760	1.25605872944	0.81899	0.955081939697	0.99846	D	0.57508	0.85994	D	0.255078	0.79073	D	0.128625	0.78802	D	0.99748033285141	0.91668	D	0.995275	0.98387	D	0.74396384	0.80520	0.5325961	0.72992	0.74396384	0.80521	0.5325961	0.72993	-12.808	0.88556	D	.	.	0.999	0.98907	P	.;.	.;.	4.190881	0.63158	24.5	0.99741405065226962	0.83555	0.99649	0.98332	D	AEFDBI	0.910691	0.86894	D	0.631570355920296	0.75182	6.260801	0.555554583534728	0.71786	5.708017	0.999788454918342	0.43007	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	4.48	4.48	0.53973	8.941000	0.92488	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.741	0.51059	900	0.24599	GPCR, family 2, latrophilin, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	78.64	35	chr19	14151447	.	A	G	78.64	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.976e+00;DP=1048;ExcessHet=0.1072;FS=138.726;InbreedingCoeff=-0.0471;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.07;SOR=8.813	GT:AD:DP:GQ:PL	0/1:99,25:124:90:90,0,2306	19	0	2	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|2:34,4,7:45:99:0|1:17286674_G_T:224,101,1397,0,1196,1330:17286674	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|2:34,0,7:45:99:0|1:17286674_G_T:224,289,1611,0,1347,1330:17286674	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|1:34,7,0,0:45:99:0|1:17286674_G_T:224,0,1330,289,1347,1611,289,1347,1611,1611:17286674	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	0/1:28,11,0,0:39:99:.:.:372,0,1174,480,1168,1723,480,1168,1723,1723	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	0/1:30,11,0:41:99:.:.:369,0,1193,483,1184,1734	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	0/1:24,11,0:36:99:.:.:402,0,989,481,1018,1702	0	10	3	0
chr19	17527335	17527335	A	C	exonic	NIBAN3	.	nonsynonymous SNV	NIBAN3:NM_001098524:exon2:c.A88C:p.S30R	.	.	395	1097	30	0	0	30	0.0134892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.002	B	0.712	N	1.000	N	1.61	L	2.03	T	-1.020	T	0.033	T	0.113	2.920	15.73	-3.67	-0.984	-0.012	6.652	0.020	.	8.3e-05	0.00139776	0.0053	0	0	0	0	0.0004	0	0.0128	0.0008215	127	154602	rs200304763	0.0010	0.0010	0.0007	0.0014	0.0108	0.0010	0.0010	0.0102	0.0100	9.506e-05	0.0005	7.965e-05	2.806e-05	4.114e-05	0.0080	0.0004	0.0011	0.0108	0.0007	0.0007	0.0006	0.0007	0.0075	0.0006	0.0005	0.0056	0.0049	4.826e-05	0	0.0007	0	0	0	0.0102	0.0007	0	0.0075	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.711885	0.10006	N	0.829479	1	0.18612	N	0.805	0.20218	L	1.96	0.22881	T	-0.72	0.20358	N	0.154	0.20395	-1.0199	0.23747	T	0.033	0.14334	T	10	0.0032359958	0.00055	T	.	.	.	0.020	0.03691	0.128	0.03331	0.0551355673512	0.04727	0.10362123673088532	0.10292	0.297826473025	0.32164	0.396594941616	0.24595	T	0.004484	0.03887	T	-0.615447	0.00117	T	-0.647429	0.09135	T	0.0140267319805013	0.00271	T	0.474053	0.14146	T	0.20258251	0.42308	0.14731982	0.34868	0.20258251	0.42308	0.14731982	0.34867	-3.54	0.17211	T	.	.	0.227	0.45859	B	.;.;.	.;.;.	0.277170	0.06543	3.028	0.98585880563833139	0.43310	0.01256	0.04413	N	AEFDGBHCI	0.085487	0.17329	N	-1.27972693873513	0.03920	0.1760011	-1.39533097773698	0.03301	0.1537287	0.999999724864787	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.98	-3.67	0.04187	-0.124000	0.10571	0.068000	0.14222	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3189:0.1624:0.5187:0.0	6.652	0.22157	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	465.98	34	chr19	17527335	.	A	C	465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=9.000e-03;DP=769;ExcessHet=0.0000;FS=2.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.03;ReadPosRankSum=-3.160e-01;SOR=1.158	GT:AD:DP:GQ:PL	0/1:37,21:58:99:480,0,969	20	0	1	0
chr19	17672466	17672466	G	A	exonic	UNC13A	.	nonsynonymous SNV	UNC13A:NM_001080421:exon4:c.C182T:p.T61M,	.	.	423	1069	30	0	0	30	0.0138376	.	.	2418958	UNC13A-related_disorder|Amyotrophic_lateral_sclerosis	.|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.883	P	0.278	B	0.000	U	0.906	D	1.04	L	-0.44	T	-0.831	T	0.156	T	0.425	2.183	13.26	2.79	0.485	3.471	7.937	0.330	0.0485386385972	0.0017	0.00259585	0.0041	0.0015	0.0010	0.0001	0.0082	0.0045	0.0045	0.0067	0.0036351	562	154602	rs140141294	0.0028	0.0028	0.0026	0.0030	0.0094	0.0027	0.0027	0.0074	0.0067	0.0013	0.0014	0.0160	2.519e-05	0.0084	0.0094	0.0020	0.0040	0.0068	0.0030	0.0030	0.0026	0.0033	0.0046	0.0027	0.0026	0.0034	0.0031	0.0011	0	0.0042	0.0141	0.0002	0.0086	0.0068	0.0024	0.0057	0.0046	0.137	0.26085	T	0.131	0.34716	T	0.883	0.48537	P	0.278	0.40236	B	0.000000	0.84330	U	0.000000	0.906161	0.36292	D	0.345	0.11182	N	-0.44	0.69777	T	-2.35	0.51968	N	0.388	0.45142	-0.8308	0.53250	T	0.156	0.48790	T	10	0.010660082	0.00236	T	0.048539	0.63416	D	0.330	0.65226	.	.	0.0675242888579	0.06100	0.5694231586329802	0.56870	0.816425672863	0.66954	0.692185282707	0.66020	T	0.219551	0.58259	T	-0.350371	0.04703	T	-0.272474	0.47570	T	0.0236584185594248	0.01103	T	0.882812	0.60417	D	0.07874032	0.17948	0.118671216	0.28645	0.12665673	0.29659	0.13664956	0.32684	-5.841	0.44930	T	.	.	0.090	0.25882	B	.;.;.;.	.;.;.;.	4.072408	0.60521	24.2	0.99592638310331671	0.73690	0.89296	0.49675	D	AEFGHI	0.281173	0.39481	N	-0.149168504236705	0.35269	2.023727	-0.161685071272032	0.32961	1.880509	0.647878330941887	0.22128	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.98	2.79	0.31792	3.045000	0.49528	3.667000	0.39425	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0911:0.1634:0.7455:0.0	7.937	0.29097	895	0.25842	C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1873.98	34	chr19	17672466	.	G	A	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.146e+00;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=1.35;SOR=0.705	GT:AD:DP:GQ:PL	0/1:58,77:135:99:1888,0,1367	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,97:97:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:2509,2509,2509,224,224,0:20624327	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,97:97:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:2509,2509,2509,224,224,0:20624327	0	4	3	7
chr19	21294056	21294056	C	T	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.G718A:p.G240R	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.988	D	0.882	P	.	.	0.940	D	1.085	L	4.72	T	-0.847	T	0.011	T	0.194	2.279	13.58	1.05	0.482	1.508	8.969	0.064	0.00549881779273	0.0006	0.000798722	0.0003	0	0.0002	0	0	0.0006	0	6.072e-05	0.0003169	49	154602	rs149735807	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	2.987e-05	0.0002	0.0021	0	5.626e-05	0.0005	0.0002	0.0006	4.638e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0	0	0.0005	0.0020	0	0	0.0034	0.0004	0	0	0.073	0.34800	T	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	0.939766	0.37273	D	.	.	.	4.72	0.01636	T	-6.15	0.90178	D	0.089	0.06720	-0.8472	0.52161	T	0.011	0.04227	T	9	0.0107342005	0.00238	T	0.005499	0.14166	T	0.064	0.18567	.	.	0.392702134506	0.38879	0.00874755388557587	0.00838	0.289424696162	0.31356	0.317550301552	0.13049	T	.	.	.	-0.468962	0.00863	T	-0.579344	0.14603	T	0.183333203196526	0.19443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.47371	B	.	.	1.352083	0.17601	13.26	0.99643491983389476	0.76819	0.11321	0.16556	N	AEFBI	0.064688	0.12576	N	-0.194409031529955	0.33366	1.892194	-0.396968993999043	0.25087	1.377576	2.92481016029676E-4	0.06406	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.05	1.05	0.19280	1.238000	0.32310	.	.	0.531000	0.24825	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.0:1.0:0.0:0.0	8.969	0.35055	988	0.01987	.	.	.	.	.	.	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	1592.98	34	chr19	21294056	.	C	T	1592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.039;DP=923;ExcessHet=0.0000;FS=3.038;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.068;SOR=0.903	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1607,0,1785	20	0	1	0
chr19	21727423	21727423	C	A	exonic	ZNF100	.	nonsynonymous SNV	ZNF100:NM_001351672:exon3:c.G244T:p.A82S	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.479	P	0.517	P	.	.	0.998	N	-0.64	N	1.28	T	-1.004	T	0.051	T	0.114	0.319	5.729	0.907	0.292	-0.986	4.931	0.046	0.00261464069964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.028	0.58613	D	0.479	0.36725	P	0.517	0.48105	P	.	.	.	.	0.998161	0.22316	N	-1.145	0.00921	N	1.28	0.35960	T	-2.34	0.51811	N	0.039	0.04307	-1.0045	0.28607	T	0.051	0.21728	T	9	0.08298212	0.13754	T	0.002615	0.05292	T	0.046	0.12618	0.507	0.60232	0.165133752707	0.16062	0.007149742069901606	0.00681	0.0875372861277	0.09878	.	.	.	0.036371	0.24077	T	-0.293361	0.09301	T	-0.659169	0.08322	T	0.226895049752146	0.21802	T	0.0241976	0.00146	T	0.09494145	0.22334	0.08829593	0.20577	0.09494145	0.22334	0.08829593	0.20577	-7.318	0.56323	T	.	.	0.174	0.38062	B	.;.;.	.;.;.	1.673176	0.21327	15.15	0.98779411605469014	0.46112	0.00013	0.00170	N	AEFBHCI	0.029379	0.02763	N	-1.03278194239222	0.07929	0.3700688	-1.139596520674	0.06957	0.3366301	3.13695379137864E-4	0.06498	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	0.907	0.907	0.18450	-1.546000	0.02292	.	.	0.298000	0.18894	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5626:0.4374:0.0:0.0	4.931	0.13271	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1420.98	37	chr19	21727423	.	C	A	1420.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.084e+00;DP=1080;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=-9.930e-01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1435,0,1397	20	0	1	0
chr19	21727498	21727498	G	A	exonic	ZNF100	.	nonsynonymous SNV	ZNF100:NM_001351672:exon3:c.C169T:p.R57W	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.012	B	0.005	B	.	.	1.000	N	1.755	L	3.19	T	-0.956	T	0.019	T	0.127	-0.692	0.998	-0.462	0.182	-1.976	6.072	0.013	0.00154618356177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs942974310	4.803e-06	6.16e-06	4.096e-06	5.517e-06	1.162e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.51e-06	1.661e-05	1.162e-05	1.323e-05	1.319e-05	0	2.709e-05	4.851e-05	2.2e-06	8.2e-07	8.04e-06	3.01e-06	4.851e-05	0	0	0	0	0	0	0	0	0	0.515	0.07378	T	0.293	0.21745	T	0.012	0.16265	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	3.19	0.07353	T	-3.42	0.67241	D	0.098	0.18512	-0.9555	0.40006	T	0.019	0.08126	T	9	0.10095686	0.18418	T	0.001546	0.02420	T	0.013	0.01715	0.419	0.46036	0.247322355667	0.24350	0.032548074061614855	0.03202	0.144453412496	0.16320	.	.	.	0.026285	0.19484	T	-0.34371	0.05135	T	-0.731492	0.04260	T	0.132450945221419	0.15607	T	0.0271973	0.00166	T	0.068870015	0.15040	0.05910033	0.11033	0.068870015	0.15039	0.05910033	0.11032	-7.27	0.55982	T	.	.	0.321	0.55713	B	.;.;.	.;.;.	1.073242	0.14556	11.12	0.62172183109236412	0.06895	0.00003	0.00079	N	AEFGBHCI	0.033868	0.04097	N	-0.920131630880718	0.10371	0.4953048	-0.97876150563404	0.10263	0.5157632	0.00125324914351865	0.08381	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	0.841	-0.462	0.11560	-4.364000	0.00281	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2435:0.0:0.7565:0.0	6.072	0.19119	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	1551.98	37	chr19	21727498	.	G	A	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=1090;ExcessHet=0.0000;FS=4.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-3.440e-01;SOR=1.177	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1566,0,1342	20	0	1	0
chr19	23654488	23654488	A	C	exonic	ZNF675	.	nonsynonymous SNV	ZNF675:NM_138330:exon4:c.T445G:p.Y149D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.119	B	0.203	B	.	.	0.823	N	2.86	M	1.53	T	-0.913	T	0.110	T	0.288	1.572	11.21	0.916	0.257	1.062	5.595	0.082	0.00183071367624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.079	0.42086	T	0.119	0.26641	B	0.203	0.37000	B	.	.	.	.	0.823441	0.28853	N	3.07	0.87108	M	1.53	0.30401	T	-8.3	0.96976	D	0.218	0.24385	-0.9131	0.46467	T	0.110	0.39604	T	9	0.42559507	0.57152	T	0.001831	0.03167	T	0.082	0.23913	0.698	0.83499	0.297718772494	0.29385	0.009053615126522894	0.00868	0.0827843753343	0.09339	0.359264284372	0.19278	T	0.097668	0.40073	T	-0.18445	0.23077	T	-0.502726	0.22065	T	0.368935021987662	0.27756	T	0.0976902	0.27067	T	0.2599075	0.49045	0.21621345	0.46240	0.2599075	0.49045	0.21621345	0.46239	-6.261	0.48413	T	.	.	0.069	0.43544	B	.;.	.;.	1.220074	0.16140	12.34	0.87014884497181466	0.16929	0.10272	0.15824	N	AEFBCI	0.063061	0.12162	N	-0.66358398289055	0.17066	0.8750026	-0.843148885488901	0.13453	0.6979277	0.00106513767096373	0.08183	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	0.916	0.916	0.18500	0.085000	0.14759	.	.	0.361000	0.20101	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	5.595	0.16603	988	0.01987	.;.	.	.	.	.	.	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	3634.98	33	chr19	23654488	.	A	C	3634.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.230;DP=3041;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.74;ReadPosRankSum=0.566;SOR=0.673	GT:AD:DP:GQ:PL	0/1:96,135:231:99:3649,0,2547	20	0	1	0
chr19	32382878	32382878	C	T	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon6:c.C2657T:p.T886I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	0.422	N	0.999	N	1.245	L	3.59	T	-1.073	T	0.023	T	0.23	3.230	16.82	4.84	2.785	2.627	11.607	0.040	0.0054839109117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.263	0.22828	T	0.002	0.09854	B	0.007	0.12992	B	0.422360	0.12854	N	0.749959	1	0.08975	N	1.555	0.39373	L	3.59	0.06602	T	-1.23	0.31170	N	0.158	0.16447	-1.0734	0.08681	T	0.023	0.09832	T	10	0.086309105	0.14658	T	0.005484	0.14106	T	0.040	0.10527	0.188	0.09776	0.082315109003	0.07666	0.35297715856351913	0.35211	0.356834011381	0.37416	0.314413458109	0.12574	T	0.052278	0.29116	T	-0.232413	0.16331	T	-0.571622	0.15302	T	0.697001218795776	0.40576	D	0.59614	0.22137	T	0.050565388	0.09154	0.053287983	0.08947	0.050565388	0.09154	0.053287983	0.08946	-4.222	0.27069	T	.	.	0.108	0.20625	B	.;.;.	.;.;.	2.888567	0.38249	20.7	0.99818157905049065	0.90150	0.87983	0.47718	D	AEFGBI	0.115500	0.22707	N	0.0195241882200254	0.42742	2.581207	0.202682123218495	0.49995	3.196342	0.999944972485483	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.87	4.84	0.62125	1.823000	0.38700	4.021000	0.41251	0.599000	0.40250	0.972000	0.34453	0.279000	0.24096	0.970000	0.54328	0.0:0.8676:0.0:0.1324	11.607	0.50297	843	0.36859	.;.;.	.	.	.	.	.	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	1543.98	35	chr19	32382878	.	C	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.734e+00;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.08;ReadPosRankSum=0.215;SOR=0.703	GT:AD:DP:GQ:PL	0/1:37,59:96:99:1558,0,977	20	0	1	0
chr19	34300591	34300591	G	A	exonic	GARRE1	.	nonsynonymous SNV	GARRE1:NM_014686:exon2:c.G118A:p.A40T,	.	.	430	1048	43	1	0	45	0.0210182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	0.000	N	0.904	D	-0.805	N	.	.	-1.078	T	0.044	T	0.056	0.012	4.074	1.48	0.713	3.064	7.279	0.172	.	0.0015	0.00878594	0.0065	0.0003	0.0014	0	0.0018	0.0032	0.0100	0.0325	0.0001153	3	26028	rs151200468	0.0041	0.0041	0.0030	0.0052	0.0322	0.0040	0.0040	0.0312	0.0308	0.0003	0.0013	0.0104	7.557e-05	0.0018	0.0113	0.0021	0.0051	0.0322	0.0031	0.0031	0.0023	0.0039	0.0381	0.0028	0.0027	0.0336	0.0319	0.0005	0	0.0025	0.0121	0	0.0018	0	0.0022	0.0066	0.0381	0.768	0.03402	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000035	0.55875	N	0.159324	0.904177	0.36245	D	-0.46	0.02758	N	.	.	.	1.2	0.01078	N	0.055	0.02658	-1.0783	0.07681	T	0.044	0.19029	T	9	0.003199309	0.00054	T	.	.	.	0.172	0.43662	.	.	0.043077524339	0.03247	0.19238402303310173	0.19156	0.227004266067	0.25252	0.530864715576	0.43156	T	0.018492	0.14898	T	-0.611079	0.00125	T	-0.626174	0.10706	T	0.00255174078607371	0.00027	T	0.824218	0.48580	T	0.0382888	0.05073	0.07576153	0.16713	0.0382888	0.05073	0.07576153	0.16713	-3.316	0.13945	T	.	.	0.060	0.00904	B	.	.	1.931464	0.24533	16.43	0.83865513919071555	0.14963	0.80372	0.40027	D	AEFDGBI	0.126563	0.24355	N	-0.448880095827538	0.23778	1.279312	-0.243438504701772	0.29997	1.685272	0.900097373006502	0.26067	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	1.48	0.21900	3.069000	0.49724	5.098000	0.47411	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.444:0.0:0.556:0.0	7.279	0.25476	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	3275.11	33	chr19	34300591	.	G	A	3275.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.092;DP=961;ExcessHet=0.1072;FS=1.469;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=1.32;SOR=0.806	GT:AD:DP:GQ:PL	0/1:73,77:150:99:2020,0,1930	19	0	2	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K,	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1023	424	67	8	566	0.214286	.	.	142703	not_specified|Brugada_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.005	B	.	.	1.000	N	.	.	-2.5	D	-0.696	T	0.422	T	0.055	1.698	11.64	1.84	0.750	0.862	5.129	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.1429	11159.49	111	chr19	35034040	.	G	C,A	11159.49	.	AC=4,2;AF=0.095,0.048;AN=42;BaseQRankSum=-5.360e-01;DP=1237;ExcessHet=1.7912;FS=0.520;InbreedingCoeff=-0.1667;MLEAC=4,2;MLEAF=0.095,0.048;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-2.200e-02;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:79,0,55:134:99:0|1:35034035_C_A:2070,2308,5531,0,3223,3058:35034035	15	0	4	0
chr19	35527867	35527867	G	A	exonic	SBSN	.	nonsynonymous SNV	SBSN:NM_001166034:exon1:c.C415T:p.H139Y,	.	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.956	P	0.732	P	.	.	1.000	D	0.895	L	0.91	T	-1.016	T	0.103	T	0.268	2.264	13.53	1.58	1.361	1.211	6.442	0.076	.	.	0.00199681	0.0009	0	8.637e-05	0	0	5.996e-05	0.0011	0.0063	0.0008021	124	154602	rs200153005	0.0005	0.0005	0.0002	0.0007	0.0067	0.0004	0.0004	0.0063	0.0061	0	0.0002	3.826e-05	0	0	0.0019	1.978e-05	0.0006	0.0067	0.0003	0.0003	0.0003	0.0004	0.0087	0.0003	0.0002	0.0066	0.0059	4.817e-05	0	0.0001	0.0003	0.0002	0	0	2.94e-05	0.0009	0.0087	0.049	0.39820	D	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.525	0.38595	L	0.91	0.44856	T	-1.8	0.42384	N	0.422	0.46180	-1.0156	0.25143	T	0.103	0.37844	T	9	0.007532388	0.00171	T	.	.	.	0.076	0.22200	0.382	0.39970	0.447213685739	0.44343	0.030110697358850545	0.02960	0.998181422514	0.74318	0.46839851141	0.34460	T	0.003867	0.03272	T	-0.512556	0.00485	T	-0.50572	0.21757	T	0.0571665815178973	0.06715	T	0.455954	0.13062	T	0.0696542	0.15277	0.11283258	0.27227	0.0696542	0.15277	0.11283258	0.27226	-8.022	0.61220	D	.	.	0.271	0.50518	B	.	.	2.673778	0.34861	19.74	0.99308528184499745	0.58906	0.48877	0.28306	N	AEFDBI	0.134244	0.25418	N	-0.0800715292223179	0.38267	2.238635	-0.180054913390997	0.32270	1.83431	0.0274848590910693	0.13776	0.497415	0.19182	0	0.563428	0.19063	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	2.75	1.58	0.22557	0.743000	0.25899	2.109000	0.30648	0.658000	0.54486	0.112000	0.23030	0.325000	0.24344	0.398000	0.26737	0.0:0.0:0.5347:0.4653	6.442	0.21058	835	0.38313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3267.98	39	chr19	35527867	.	G	A	3267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-02;DP=1041;ExcessHet=0.0000;FS=0.964;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.553;SOR=0.746	GT:AD:DP:GQ:PL	0/1:129,122:251:99:3282,0,3461	20	0	1	0
chr19	35741056	35741056	C	T	exonic	IGFLR1	.	nonsynonymous SNV	IGFLR1:NM_001346003:exon2:c.G125A:p.C42Y	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.998	N	1.955	M	-2.95	D	0.442	D	0.832	D	0.968	4.228	22.0	4.78	2.483	3.620	13.174	0.787	0.223617506901	.	.	9.126e-06	0	0	0	0	0	0	6.939e-05	6.5e-06	1	154602	rs780108167	3.159e-05	3.215e-05	2.595e-05	3.73e-05	0.0004	2.422e-05	2.166e-05	0.0002	0.0001	0	6.832e-05	0	0	0	0.0004	1.533e-05	6.661e-05	0.0002	5.25e-05	5.248e-05	2.569e-05	8.051e-05	0.0010	2.554e-05	1.828e-05	0.0004	0.0003	0	0	6.531e-05	0	0	0	0	2.939e-05	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.997978	0.44375	D	1.975	0.53506	M	-2.95	0.91903	D	-8.85	0.97861	D	0.725	0.72656	0.442	0.89711	D	0.832	0.94366	D	10	0.76145977	0.76377	D	0.223618	0.87910	D	0.787	0.92948	0.56	0.67958	0.783291907213	0.78129	0.8906648443364954	0.89036	0.602772774476	0.55276	0.545365393162	0.45203	T	0.176681	0.52672	T	0.262537	0.79763	D	0.376009	0.91286	D	0.710443921370136	0.41222	D	0.814719	0.46890	T	0.9382158	0.95065	0.96486956	0.99224	0.9382158	0.95066	0.96486956	0.99225	-8.354	0.63458	D	.	.	0.973	0.90447	P	.;.;.;.;.	.;.;.;.;.	4.467890	0.69602	25.4	0.99493618454664201	0.67573	0.77649	0.38203	D	ALL	0.844377	0.76135	D	0.620752543839449	0.74488	6.141353	0.574040778857379	0.73083	5.91303	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.78	4.78	0.60666	1.333000	0.33421	3.743000	0.39657	0.595000	0.32841	0.764000	0.29288	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	13.174	0.59035	698	0.58074	.;.;.;.;.	.	.	.	.	.	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	1254.98	33	chr19	35741056	.	C	T	1254.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=-1.227e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1269,0,880	20	0	1	0
chr19	38737256	38737256	G	A	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon10:c.C1262T:p.T421M,	.	.	413	1108	1	0	0	1	0.00045106	.	.	2246680	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.806	P	0.227	B	0.013	N	1.000	N	0	N	-2.24	D	-0.533	T	0.327	T	0.058	0.957	8.903	-5.93	-1.073	-1.549	6.461	0.327	0.360856456381	0.0002	0.000199681	0.0001	0.0005	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs376929093	8.577e-06	9.577e-06	8.464e-06	8.693e-06	0.0002	4.57e-06	3.61e-06	6.092e-05	3.919e-05	0.0002	0	0	0	0	0.0002	2.777e-06	1.727e-05	2.52e-05	4.666e-05	4.616e-05	3.909e-05	5.459e-05	0.0002	2.137e-05	1.545e-05	8.025e-05	5.673e-05	0.0002	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.096	0.40267	T	0.806	0.45231	P	0.227	0.38084	B	0.013433	0.01364	N	2.678450	1	0.08975	N	1.67	0.42885	L	-2.2	0.87194	D	-0.65	0.18877	N	0.121	0.11483	-0.5335	0.67409	T	0.327	0.69564	T	10	0.07877579	0.12596	T	0.360856	0.92508	D	0.327	0.64926	.	.	0.396345573744	0.39253	0.336295712363632	0.33542	0.0648110899502	0.07235	0.755609035492	0.75276	T	0.174496	0.52374	T	-0.154453	0.27618	T	-0.459637	0.26638	T	0.36140775680542	0.27464	T	0.440756	0.12177	T	0.10643239	0.25167	0.11863127	0.28635	0.10643239	0.25167	0.11863127	0.28635	-5.685	0.43560	T	.	.	0.075	0.07083	B	.;.	.;.	0.039735	0.04562	1.247	0.98274407680559683	0.39796	0.01727	0.05464	N	AEFBHCIJ	0.058943	0.11096	N	-1.36787088704918	0.02944	0.1307692	-1.54094189035142	0.02039	0.09320036	0.999999999634944	0.74766	0.764865	0.99124	0	0.552344	0.17405	0	0.731555	0.93304	0	0.562822	0.20929	0	.	.	3.48	-5.93	0.02067	-1.520000	0.02345	-0.820000	0.07299	-0.971000	0.01942	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2034:0.3119:0.4847:0.0	6.461	0.21156	675	0.60470	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2220.98	34	chr19	38737256	.	G	A	2220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.692;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=0.440;SOR=0.702	GT:AD:DP:GQ:PL	0/1:51,89:140:99:2235,0,1034	20	0	1	0
chr19	38907308	38907308	C	T	exonic	NFKBIB	.	nonsynonymous SNV	NFKBIB:NM_001243116:exon4:c.C449T:p.P150L	.	.	422	1099	1	0	0	1	0.000454752	0.0001	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.169	B	0.033	B	0.035	N	1.000	D	0.86	L	0.8	T	-1.044	T	0.094	T	0.325	0.988	9.033	1.52	0.255	0.093	7.851	0.023	0.0389821229704	.	0.000798722	9.148e-05	9.673e-05	0.0002	0.0002	0	9.073e-05	0	0	9.7e-05	15	154602	rs528161401	3.698e-05	3.762e-05	3.814e-05	3.58e-05	0.0012	2.897e-05	2.595e-05	0.0006	0.0004	2.988e-05	4.476e-05	3.828e-05	7.568e-05	0	0.0012	2.61e-05	9.945e-05	5.801e-05	7.221e-05	7.217e-05	7.707e-05	6.713e-05	0.0006	3.967e-05	3.125e-05	0.0002	8.384e-05	4.811e-05	0	0	0	0.0006	0	0	7.35e-05	0	0.0002	0.153	0.24372	T	0.164	0.36365	T	0.169	0.28678	B	0.033	0.22329	B	0.034720	0.24735	N	0.291335	0.999604	0.47795	D	0.86	0.21358	L	0.82	0.55439	T	-2.22	0.49846	N	0.329	0.37093	-1.0436	0.16236	T	0.094	0.35604	T	10	0.02847004	0.00979	T	0.038982	0.58547	D	0.023	0.04649	0.42	0.46200	0.55025283692	0.54683	0.2768409786765722	0.27597	0.330562522634	0.35134	0.441002309322	0.30714	T	0.007778	0.49600	T	-0.314082	0.07393	T	-0.424505	0.30559	T	0.0335048583915512	0.02554	T	.	.	.	0.028659584	0.02237	0.045611717	0.06176	0.028659584	0.02237	0.045611717	0.06175	-8.016	0.61254	D	.	.	0.112	0.23395	B	.;.;.;.	.;.;.;.	1.968811	0.25009	16.61	0.89211688632765074	0.18604	0.65890	0.32890	D	AEFDBI	0.119364	0.23299	N	-0.625129628258198	0.18192	0.9424935	-0.548505541183883	0.20846	1.124985	0.478585567799603	0.20766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.75	1.52	0.22158	0.093000	0.14925	1.726000	0.28294	-0.187000	0.09635	0.783000	0.29509	0.967000	0.29559	0.480000	0.28565	0.0:0.7368:0.0:0.2632	7.851	0.28618	645	0.63593	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1515.98	33	chr19	38907308	.	C	T	1515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=817;ExcessHet=0.0000;FS=6.532;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.944;SOR=0.911	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1530,0,1392	20	0	1	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	.	0	1451	68	3	0	74	0.0248656	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_provided|not_specified	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.642	P	0.113	B	0.015	N	.	.	1.61	L	1.49	T	-0.751	T	0.096	T	0.279	1.070	9.370	5.51	2.873	2.309	14.793	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	Likely benign	0	0	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	1003.98	45	chr19	38930489	.	G	A	1003.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=774;ExcessHet=0.0000;FS=3.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=2.16;SOR=1.280	GT:AD:DP:GQ:PL	0/1:31,36:67:99:1018,0,683	20	0	1	0
chr19	39204167	39204167	T	A	exonic	SYCN	.	stopgain	SYCN:NM_001080468:exon1:c.A88T:p.K30X,	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	A	.	.	.	.	.	.	.	.	.	3.562	18.16	4.3	1.804	2.348	11.442	.	.	.	.	2.68e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs768006739	9.59e-06	9.577e-06	2.726e-06	1.652e-05	0.0002	5.57e-06	4.35e-06	9.796e-05	7.842e-05	0	0	0	0	0	0	0	0	0.0002	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000693	0.42383	D	0.085566	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.167	0.17691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420019	0.91021	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.546530	0.95383	35	0.99400885763486124	0.62794	0.86192	0.45426	D	AEFDBI	0.084692	0.17166	N	0.485901375593272	0.66267	4.928042	0.272853907516134	0.53959	3.562601	0.999830542254053	0.43792	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.3	4.3	0.50540	1.843000	0.38900	.	.	0.519000	0.23678	0.937000	0.32526	1.000000	0.68203	0.071000	0.16709	0.0:0.0:0.0:1.0	11.442	0.49349	520	0.74355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	39	chr19	39204167	.	T	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.950e-01;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-6.810e-01;SOR=0.804	GT:AD:DP:GQ:PL	0/1:28,38:66:99:996,0,735	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	0|1:30,12,0:42:99:0|1:40667975_C_T:350,0,1183,440,1219,1659:40667975	4	8	8	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,22:108:66:.:.:66,0,1949	11	0	9	1
chr19	42868984	42868984	T	G	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.A481C:p.N161H	.	.	13	1508	1	0	0	1	0.000331455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.455	P	0.367	B	.	.	1.000	N	0.175	N	2.64	T	-0.984	T	0.020	T	0.051	-0.301	2.563	-2.94	-1.032	-1.568	2.789	0.011	0.000652955346389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.053e-06	0	4.133e-06	3.489e-05	5.5e-07	1.5e-07	9.27e-06	4.57e-06	0	0	0	0	0	0	0	0	3.489e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.46129	D	0.218	0.27855	T	0.014	0.23653	B	0.046	0.30104	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	2.64	0.12780	T	-0.66	0.41809	N	0.172	0.25867	-0.9837	0.34140	T	0.020	0.08453	T	9	0.061074167	0.07602	T	6.53E-4	0.00350	T	0.011	0.01250	0.329	0.31357	0.104622674875	0.10061	0.09620096268895202	0.09552	0.00877584801731	0.00795	.	.	.	0.001799	0.13004	T	-0.393714	0.02545	T	-0.803319	0.01821	T	0.082754595735735	0.10336	T	0.381762	0.09261	T	0.11646955	0.27469	0.088100895	0.20522	0.11646955	0.27469	0.088100895	0.20521	-5.75	0.44861	T	.	.	0.134	0.29422	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.326467	0.02504	0.295	0.67028273090581814	0.08232	0.00104	0.00666	N	AEFI	0.022071	0.01058	N	-1.34338746829215	0.03194	0.1422685	-1.47676993033981	0.02536	0.1167917	6.30900090283275E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.47	-2.94	0.05245	-0.846000	0.04444	-4.506000	0.02122	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3377:0.255:0.4073	2.789	0.05052	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4290.98	35	chr19	42868984	.	T	G	4290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=1596;ExcessHet=0.0000;FS=1.200;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.52;MQRankSum=-7.965e+00;QD=6.68;ReadPosRankSum=0.078;SOR=0.784	GT:AD:DP:GQ:PL	0/1:440,202:642:99:4305,0,11847	20	0	1	0
chr19	43915003	43915003	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T433C:p.F145L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.264	N	1.000	N	1.805	L	1.01	T	-0.988	T	0.090	T	0.098	0.299	5.620	1.35	0.593	-0.060	5.295	0.038	0.00769626429319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384583909	6.881e-07	1.368e-06	0	1.385e-06	2.274e-05	0	0	.	.	0	2.274e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.263507	0.15267	N	0.483859	1	0.08975	N	2.275	0.64647	M	1.01	0.41058	T	-0.84	0.22944	N	0.164	0.18376	-0.9877	0.33175	T	0.090	0.34573	T	10	0.094732106	0.16866	T	0.007696	0.20431	T	0.038	0.09825	0.402	0.43245	0.235664433957	0.23186	0.12031759696109624	0.11958	0.213602836398	0.23874	0.334945380688	0.15680	T	0.035438	0.23719	T	-0.368212	0.03685	T	-0.683822	0.06753	T	0.0350863611179524	0.02822	T	0.0770923	0.09368	T	0.05302415	0.09975	0.03890542	0.03862	0.05302415	0.09975	0.03890542	0.03862	-3.275	0.13417	T	.	.	0.333	0.68334	B	.;.;.;.	.;.;.;.	0.469238	0.08386	5.142	0.45021709716704789	0.03503	0.08434	0.14363	N	AEFBI	0.031285	0.03311	N	-1.04982718632548	0.07591	0.3531383	-1.11553569626414	0.07403	0.3599641	0.00212158374293667	0.09174	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	1.35	0.21078	0.579000	0.23490	.	.	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5556:0.3441:0.1003:0.0	5.295	0.15059	861	0.33516	.;.;.;.	.	.	.	.	.	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	306.68	44	chr19	43915003	.	A	G	306.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.810e+00;DP=1228;ExcessHet=0.3300;FS=119.091;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=1.28;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,16:112:44:.:.:44,0,2361	18	0	3	0
chr19	44387835	44387835	G	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291489:exon4:c.C410A:p.A137E	.	.	433	1085	3	0	1	4	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.845	P	0.2	B	.	.	1.000	N	0.895	L	3.43	T	-1.035	T	0.009	T	0.26	-0.058	3.718	1.54	0.319	-0.971	6.150	0.046	0.00317714518444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.43	0.05440	T	.	.	.	0.097	0.10911	-1.0346	0.18983	T	0.009	0.03315	T	9	0.095938325	0.17171	T	0.003177	0.06966	T	0.046	0.12618	0.373	0.38503	0.201204373187	0.19734	0.04933200429997797	0.04876	.	.	.	.	.	.	.	.	-0.29379	0.09258	T	-0.659786	0.08281	T	0.155243050590773	0.17513	T	0.408059	0.10511	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.58440	A	.;.;.	.;.;.	0.654700	0.10233	6.969	0.31495460281284665	0.01778	0.02422	0.06842	N	AEFGBI	0.061995	0.11890	N	-0.900850727132684	0.10822	0.5190954	-1.02472352652933	0.09242	0.4587304	5.60826734828523E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.528226	0.09195	0	.	.	2.92	1.54	0.22290	-0.681000	0.05292	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2252:0.0:0.7748:0.0	6.150	0.19525	912	0.21483	.;.;.	.	.	.	.	.	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	2063.98	45	chr19	44387835	.	G	T	2063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.349;DP=1140;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0248;MLEAC=1;MLEAF=0.024;MQ=55.94;MQRankSum=-2.680e-01;QD=12.98;ReadPosRankSum=-4.150e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/1:86,73:159:99:2078,0,2431	20	0	1	0
chr19	49032576	49032576	C	G	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_001319065:exon2:c.C46G:p.R16G	.	.	175	1315	28	4	0	36	0.0135034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.969	D	0.003	N	0.949	N	2.49	M	-2.77	D	0.091	D	0.727	D	0.313	1.513	11.01	0.624	0.269	0.736	7.147	0.314	.	0.0038	0.00599042	0.0125	0.0018	0.0190	0	0.0062	0.0164	0.0294	0.0101	0.0025357	66	26028	rs369311910	0.0083	0.0082	0.0083	0.0083	0.0429	0.0082	0.0081	0.0377	0.0357	0.0031	0.0114	0.0270	2.661e-05	0.0029	0.0429	0.0081	0.0123	0.0074	0.0071	0.0071	0.0073	0.0069	0.0119	0.0067	0.0066	0.0104	0.0099	0.0025	0.0011	0.0119	0.0249	0	0.0027	0.0442	0.0089	0.0106	0.0058	0.004	0.65419	D	0.22	0.31629	T	.	.	.	.	.	.	0.003164	0.35330	N	0.277463	0.949426	0.26537	N	.	.	.	-2.77	0.90904	D	-3.56	0.68880	D	0.439	0.47765	0.091	0.84012	D	0.727	0.90655	D	10	0.013537228	0.00287	T	.	.	.	0.314	0.63588	.	.	0.914968962474	0.91411	0.44295366875919373	0.44212	3.3389385424	0.99635	0.413342803717	0.26920	T	.	.	.	-0.293793	0.09258	T	-0.185395	0.56020	T	0.0318637057931176	0.02284	T	0.928407	0.73561	D	0.42292413	0.62286	0.26347303	0.52154	0.42292413	0.62286	0.26347303	0.52153	-6.17	0.47679	T	.	.	0.268	0.53024	B	.;.	.;.	2.957116	0.39368	20.9	0.98790799955104336	0.46285	0.66708	0.33172	D	AEFI	0.251763	0.37157	N	0.0205258550701362	0.42790	2.584822	-0.190588880306432	0.31882	1.808461	5.27173936388819E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	0.624	0.16833	0.886000	0.27878	1.148000	0.24458	0.291000	0.18778	0.987000	0.36337	0.871000	0.27593	0.009000	0.08673	0.2676:0.7324:0.0:0.0	7.147	0.24764	769	0.49307	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05	420.82	15	chr19	49032576	.	C	G	420.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.29;DP=243;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0641;MLEAC=2;MLEAF=0.050;MQ=39.20;MQRankSum=0.00;QD=14.51;ReadPosRankSum=0.400;SOR=1.609	GT:AD:DP:GQ:PL	0/1:9,5:14:99:149,0,254	18	0	2	1
chr19	50666540	50666540	G	A	exonic	SHANK1	.	nonsynonymous SNV	SHANK1:NM_016148:exon23:c.C5420T:p.P1807L,	.	.	409	1097	15	1	0	17	0.00768883	.	.	729832	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.048	B	0.025	B	0.968	U	1.000	N	1.625	L	1.76	T	-0.995	T	0.060	T	0.083	-0.027	3.874	1.12	1.334	1.080	7.609	0.027	0.0828293383435	.	0.00139776	0.0036	0.0006	0.0062	0	0.0006	0.0052	0.0029	0.0010	0.0019017	294	154602	rs184259943	0.0024	0.0024	0.0024	0.0024	0.0107	0.0023	0.0023	0.0085	0.0077	0.0007	0.0031	0.0061	0	0.0005	0.0107	0.0025	0.0037	0.0010	0.0023	0.0023	0.0023	0.0024	0.0042	0.0021	0.0021	0.0034	0.0031	0.0003	0	0.0042	0.0061	0	0.0004	0.0374	0.0034	0.0038	0.0002	0.043	0.48186	D	0.179	0.45530	T	0.048	0.22112	B	0.025	0.20508	B	0.967967	0.07760	U	1.021450	1	0.08975	N	0	0.06538	N	1.76	0.37230	T	-1.78	0.42001	N	0.111	0.09772	-0.9954	0.31191	T	0.060	0.24981	T	10	0.0060329437	0.00135	T	0.082829	0.73985	D	0.027	0.05988	.	.	0.110392049598	0.10638	0.1295931873921332	0.12884	0.689654936946	0.60494	0.808962166309	0.83333	D	0.057085	0.30467	T	-0.610511	0.00126	T	-0.653098	0.08739	T	0.00458498317523324	0.00049	T	0.818618	0.47714	T	0.066591606	0.14343	0.087204926	0.20255	0.066591606	0.14343	0.087204926	0.20254	-4.549	0.31652	T	.	.	0.105	0.19235	B	.;.;.;.	.;.;.;.	2.577703	0.33415	19.33	0.9346749744651941	0.23258	0.11106	0.16411	N	AEFDBI	0.088616	0.17964	N	-0.719186940304289	0.15483	0.7806701	-0.7729775213659	0.15159	0.7958415	0.204906714060539	0.18169	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	2.35	1.12	0.19700	0.290000	0.18731	6.601000	0.56056	0.576000	0.29215	0.000000	0.06391	1.000000	0.68203	0.070000	0.16646	0.0:0.0:0.7494:0.2506	7.609	0.27286	873	0.30802	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1747.11	40	chr19	50666540	.	G	A	1747.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=820;ExcessHet=0.1072;FS=0.669;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-1.140e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:23,37:60:99:999,0,483	19	0	2	0
chr19	51713450	51713450	C	T	exonic	HAS1	.	nonsynonymous SNV	HAS1:NM_001297436:exon5:c.G1711A:p.G571R	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.873	P	0.197	B	0.006	U	1.000	N	0.895	L	1.52	T	-1.026	T	0.045	T	0.238	1.014	9.143	2.71	1.820	1.203	11.583	0.068	0.0845409662134	.	0.000199681	0.0002	0	0	0	0	0	0.0026	0.0026	0.00011	17	154602	rs528538024	7.047e-05	7.456e-05	3.822e-05	0.0001	0.0012	5.916e-05	5.436e-05	0.0010	0.0009	0	0	0	0	0	0	1.86e-06	7.004e-05	0.0012	2.625e-05	2.624e-05	1.285e-05	4.026e-05	0.0006	8.13e-06	5.14e-06	0.0002	8.989e-05	0	0	6.531e-05	0	0	0	0	0	0	0.0006	0.035	0.43708	D	0.057	0.46406	T	0.799	0.47975	P	0.097	0.36707	B	0.005686	0.32589	U	0.256113	0.999995	0.18198	N	1.01	0.25309	L	1.52	0.30669	T	-1.64	0.39314	N	0.243	0.27435	-1.0257	0.21853	T	0.045	0.19397	T	10	0.014328599	0.00302	T	0.084541	0.74347	D	0.068	0.19811	0.324	0.30549	0.372993862945	0.36913	0.4516436459496785	0.45082	0.0843459480316	0.09530	0.76722407341	0.77008	T	0.186596	0.53994	T	-0.504711	0.00538	T	-0.538292	0.18465	T	0.066095270216465	0.08092	T	0.846115	0.52582	T	0.10565668	0.24982	0.18250415	0.41181	0.10565668	0.24982	0.18250415	0.41180	-3.629	0.18277	T	.	.	0.147	0.34558	B	.;.;.	.;.;.	2.875563	0.38040	20.6	0.95598641082428248	0.27331	0.18073	0.20108	N	AEFBHCI	0.122357	0.23745	N	-0.528297144592386	0.21170	1.121494	-0.633474213013324	0.18635	0.9963819	0.870973331538647	0.25416	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.71	2.71	0.31092	1.551000	0.35841	.	.	0.515000	0.23462	0.008000	0.17931	1.000000	0.68203	0.871000	0.41478	0.0:1.0:0.0:0.0	11.583	0.50155	976	0.04745	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1341.98	34	chr19	51713450	.	C	T	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.195;DP=958;ExcessHet=0.0000;FS=1.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-8.610e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/1:79,58:137:99:1356,0,1919	20	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.053	B	0.085	B	0.048	N	0.995	N	0.765	N	-0.84	T	-0.953	T	0.172	T	0.187	-0.718	0.914	2.63	1.596	-0.024	4.243	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	82.39	108	chr19	51746559	.	T	C	82.39	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.607e+00;DP=2864;ExcessHet=0.1072;FS=174.148;InbreedingCoeff=-0.0575;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=1.54;SOR=9.524	GT:AD:DP:GQ:PL	0/1:162,49:211:58:58,0,3720	19	0	2	0
chr19	52157309	52157309	C	T	exonic	ZNF836	.	nonsynonymous SNV	ZNF836:NM_001102657:exon5:c.G374A:p.G125D,	.	.	458	1063	1	0	0	1	0.000470146	.	.	3358408	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	.	.	1.000	N	-0.935	N	3.4	T	-0.905	T	0.005	T	0.112	-1.345	0.029	-1.22	-0.173	-0.815	5.740	0.010	0.000750878151022	.	.	0.0001	0	0	0	0	0	0.0012	0.0009	0.0001035	16	154602	rs757305341	6.405e-05	6.567e-05	3.97e-05	8.87e-05	0.0010	5.33e-05	4.944e-05	0.0008	0.0008	0	0	0	0	0	0	3.611e-06	6.672e-05	0.0010	3.941e-05	3.938e-05	3.856e-05	4.03e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	0	0.0005	0.0008	1.0	0.00964	T	0.792	0.04737	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.98	0.01198	N	3.4	0.05642	T	2.66	0.00198	N	0.117	0.10626	-0.9052	0.47424	T	0.005	0.01833	T	9	0.013304234	0.00283	T	7.51E-4	0.00529	T	0.010	0.01040	0.249	0.18602	0.0297737177859	0.01360	0.02076515007273998	0.02029	0.240595438909	0.26601	0.238093167543	0.02621	T	0.002216	0.01614	T	-0.691425	0.00041	T	-0.822309	0.01406	T	0.0180319056715601	0.00527	T	0.0768923	0.00566	T	0.03334872	0.03535	0.06520972	0.13185	0.03334872	0.03535	0.06520972	0.13184	-2.507	0.05829	T	.	.	0.071	0.06479	B	.;.	.;.	-0.425290	0.02119	0.201	0.10298443916016528	0.00126	0.00208	0.01187	N	AEFBI	0.026613	0.02029	N	-1.61869586045018	0.01174	0.05103155	-1.62286297079353	0.01522	0.06892931	3.2179968883664E-4	0.06540	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	2.34	-1.22	0.09005	-1.318000	0.02813	.	.	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5472:0.0:0.4528	5.740	0.17360	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	2000.98	33	chr19	52157309	.	C	T	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=1282;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.029;SOR=0.684	GT:AD:DP:GQ:PL	0/1:83,72:155:99:2015,0,2081	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	0/1:29,31,0:60:99:.:.:1201,0,1140,1302,1234,2535	9	0	1	0
chr19	52439027	52439027	A	G	exonic	ZNF534	.	nonsynonymous SNV	ZNF534:NM_001351679:exon4:c.A1483G:p.S495G	.	.	392	1120	1	0	9	10	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.264	B	0.181	B	.	.	1.000	N	0.825	L	1.27	T	-0.979	T	0.060	T	0.077	-0.265	2.729	-1.64	-0.076	-0.687	7.043	0.015	0.00147880750506	.	.	1.312e-05	0	0	0	0	0	0	7.78e-05	6.5e-06	1	154602	rs747323811	4.835e-06	5.473e-06	4.119e-06	5.561e-06	0.0002	2.01e-06	1.29e-06	3.91e-06	1.47e-06	0	2.369e-05	0	0	0	0.0002	2.716e-06	0	2.357e-05	6.572e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.016	0.64786	D	0.183	0.31602	B	0.122	0.35894	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.27	0.36146	T	-1.85	0.43334	N	0.102	0.08506	-0.9792	0.35186	T	0.060	0.25200	T	9	0.1157231	0.21810	T	0.001479	0.02267	T	0.015	0.02232	0.335	0.32329	0.0551355673512	0.04727	0.01079600903302743	0.01040	0.133712803413	0.15057	0.227567225695	0.01793	T	0.005815	0.05258	T	-0.374332	0.03381	T	-0.672535	0.07447	T	0.0795061491381743	0.09922	T	0.0457954	0.00326	T	0.17405069	0.38188	0.16592167	0.38359	0.17405069	0.38188	0.16592167	0.38358	-5.735	0.44004	T	.	.	0.105	0.27373	B	.;.	.;.	1.531888	0.19653	14.37	0.95803763963540278	0.27865	0.01958	0.05943	N	AEFGI	0.084817	0.17191	N	-1.02675335936494	0.08052	0.376169	-1.17069316548863	0.06404	0.3081529	7.27079556342692E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.69	-1.64	0.07874	-1.303000	0.02852	.	.	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3379:0.6621:0.0:0.0	7.043	0.24210	988	0.01987	.;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	1689.98	128	chr19	52439027	.	A	G	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.260e-01;DP=2654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-7.760e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:72,69:141:99:1704,0,1862	20	0	1	0
chr19	52501862	52501862	C	T	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon4:c.C17T:p.A6V	.	.	424	1092	6	0	0	6	0.00273973	.	.	2283493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.648	P	0.094	B	.	.	1.000	N	0.205	N	.	.	-1.036	T	0.025	T	0.157	2.106	13.00	-1.91	-0.604	0.013	2.364	0.064	0.000939369018942	.	.	0.0002	0	0.0006	0	0	0.0003	0.0011	0.0002	0.0002393	37	154602	rs201224129	0.0003	0.0003	0.0003	0.0003	0.0139	0.0002	0.0002	0.0114	0.0105	0.0004	0.0009	0.0016	0	0	0.0139	0.0001	0.0006	0.0003	0.0004	0.0004	0.0002	0.0005	0.0016	0.0003	0.0003	0.0011	0.0010	7.222e-05	0	0.0016	0.0020	0	0	0.0102	0.0002	0.0009	0.0004	.	.	.	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	3.25	0.06762	T	.	.	.	0.285	0.32259	-1.0357	0.18637	T	0.025	0.10821	T	7	0.02363503	0.00624	T	9.39E-4	0.00934	T	.	.	.	.	0.0297737177859	0.01360	0.08546364580480721	0.08480	0.154239641841	0.17418	.	.	.	0.004922	0.04343	T	-0.601375	0.00143	T	-0.708097	0.05394	T	0.0384555868804455	0.03412	T	0.0740926	0.01031	T	0.030770805	0.02799	0.048062265	0.07059	0.030770805	0.02799	0.048062265	0.07058	-5.759	0.44215	T	.	.	0.124	0.45990	B	.;.	.;.	0.336375	0.07102	3.675	0.99187261925972348	0.54877	0.00149	0.00902	N	AEFDBI	0.017730	0.00485	N	-1.0354898780627	0.07875	0.3673225	-1.18472125178386	0.06164	0.2958721	2.56949805204253E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.61531	0.40942	0	0.620846	0.47308	0	.	.	1.01	-1.91	0.07225	-0.828000	0.04526	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3854:0.3499:0.2646:0.0	2.364	0.04051	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	1529.98	33	chr19	52501862	.	C	T	1529.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.181e+00;DP=1047;ExcessHet=0.0000;FS=2.172;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=-3.700e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1544,0,1709	20	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	600.4	37	chr19	54221344	.	C	CCGG	600.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.898e+00;DP=997;ExcessHet=1.1607;FS=102.301;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=33.45;MQRankSum=1.66;QD=2.24;ReadPosRankSum=-2.823e+00;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,6:66:71:0|1:54221256_T_C:71,0,2501:54221256	16	0	5	0
chr19	54633054	54633054	G	T	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.G997T:p.G333C	.	.	2	1507	13	0	0	13	0.00429468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.894	N	1.000	N	3.81	H	5.58	T	-1.034	T	0.019	T	0.415	1.828	12.07	1.18	1.265	1.783	4.194	0.058	0.000754452360511	0.0003	.	0.0007	9.73e-05	0.0002	0	0	0.0004	0.0033	0.0027	0.0005433	84	154602	rs201421803	0.0005	0.0005	0.0004	0.0006	0.0040	0.0005	0.0005	0.0027	0.0023	8.961e-05	0.0006	0	2.519e-05	1.872e-05	0.0040	0.0004	0.0005	0.0027	0.0007	0.0007	0.0005	0.0009	0.0037	0.0006	0.0005	0.0030	0.0027	0.0001	0.0033	0.0037	0	0	0	0	0.0005	0.0005	0.0012	0.0	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.893986	0.08667	N	0.933281	1	0.08975	N	.	.	.	5.58	0.00843	T	-7.58	0.95870	D	0.442	0.48411	-1.0336	0.19300	T	0.019	0.07986	T	10	0.025782019	0.00762	T	7.54E-4	0.00529	T	0.058	0.16647	.	.	0.463501289208	0.45975	0.15152415192943347	0.15074	0.252073141098	0.27777	0.293592244387	0.09449	T	0.226595	0.61541	T	-0.402603	0.02226	T	-0.356325	0.38478	T	0.234461294977076	0.22162	T	0.951105	0.81505	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.57902	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.155708	0.42741	21.6	0.9933185621305658	0.59816	0.08500	0.14421	N	AEFDBHCI	0.142195	0.26458	N	0.040124680716319	0.43691	2.656981	-0.298823998733835	0.28137	1.566471	0.970344918282449	0.29200	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	1.18	0.20058	1.638000	0.36780	.	.	0.522000	0.23927	0.881000	0.31008	0.000000	0.08366	0.002000	0.04165	0.2135:0.0:0.7865:0.0	4.194	0.09892	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|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	2487.98	235	chr19	54633054	.	G	T	2487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.491e+00;DP=5175;ExcessHet=0.0000;FS=1.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.60;MQRankSum=5.49;QD=7.87;ReadPosRankSum=1.05;SOR=0.581	GT:AD:DP:GQ:PL	0/1:198,118:316:99:2502,0,5997	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|1:313,116,0:429:99:0|1:54633108_T_G:3929,0,12588,4871,12937,17808:54633108	1	0	19	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	0/1:419,49:468:9:9,0,11786	4	0	16	1
chr19	54741980	54741980	G	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.G71A:p.G24E	.	.	418	1098	6	0	0	6	0.0027248	0.4003	0.432	2213723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.998	D	0.996	D	.	.	1.000	N	2.89	M	7.02	T	-0.967	T	0.005	T	0.203	1.836	12.10	1.6	1.216	1.322	6.677	0.020	0.000573416954577	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375705580	0.0005	0.0006	0.0006	0.0005	0.0091	0.0005	0.0005	0.0069	0.0061	0.0005	0.0010	0.0045	0	0.0002	0.0091	0.0004	0.0010	0.0008	0.0005	0.0006	0.0006	0.0005	0.0012	0.0005	0.0004	0.0008	0.0007	0.0002	0	0.0012	0.0040	0	0.0002	0.0034	0.0005	0.0024	0.0008	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.983	0.75793	D	.	.	.	.	1	0.18198	N	2.41	0.69639	M	7.02	0.00454	T	-5.77	0.87911	D	0.307	0.34659	-0.9666	0.37894	T	0.005	0.01797	T	8	0.2391968	0.41055	T	5.73E-4	0.00233	T	0.020	0.03691	0.667	0.80502	0.431150418975	0.42736	0.14250178328010782	0.14173	3.52078213034	0.99770	.	.	.	0.164682	0.51023	T	-0.220675	0.17900	T	-0.554761	0.16871	T	0.946605205535889	0.62505	D	.	.	.	0.22370853	0.44997	0.23914103	0.49255	0.22370853	0.44997	0.23914103	0.49254	-6.592	0.50992	T	.	.	0.173	0.37969	B	.	.	3.126224	0.42227	21.5	0.98563140753015865	0.42999	0.01140	0.04135	N	AEFI	0.067249	0.13211	N	-0.1236570737967	0.36363	2.100928	-0.445028722266669	0.23691	1.293249	5.77689045962818E-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	1.6	0.22686	2.316000	0.43421	.	.	0.339000	0.19733	0.245000	0.24799	0.976000	0.30059	0.002000	0.04165	0.0:0.0:1.0:0.0	6.677	0.22289	964	0.07719	.	.	.	.	.	.	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	2320.98	33	chr19	54741980	.	G	A	2320.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.885;DP=3023;ExcessHet=0.0000;FS=0.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.94;MQRankSum=3.16;QD=10.50;ReadPosRankSum=-2.006e+00;SOR=0.782	GT:AD:DP:GQ:PL	0/1:138,83:221:99:2335,0,4801	20	0	1	0
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	0/1:225,116,0:341:99:2398,0,6575,3074,6923,9996	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	0/1:224,53:277:99:738,0,6341	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	0/1:307,49:356:99:1033,0,8535	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|1:310,49:359:99:0|1:54752445_C_T:1124,0,12795:54752445	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|1:330,40:370:99:0|1:54752482_T_C:686,0,13675:54752482	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	0/1:313,25:338:99:.:.:108,0,12914	11	2	7	1
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|1:162,27:189:99:0|1:54760643_A_G:639,0,6673:54760643	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|1:163,29:192:99:0|1:54760643_A_G:679,0,6667:54760643	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|1:158,37:195:99:0|1:54760665_T_C:1079,0,6358:54760665	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|1:152,38:190:99:0|1:54760665_T_C:1138,0,6232:54760665	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|1:149,38:187:99:0|1:54760692_A_G:1147,0,6110:54760692	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|1:147,38:185:99:0|1:54760692_A_G:1153,0,6058:54760692	7	0	14	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K,	.	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	866.68	38	chr19	54767339	.	G	A	866.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.688e+00;DP=4012;ExcessHet=0.3300;FS=2.181;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.830e+01;QD=0.65;ReadPosRankSum=-6.090e-01;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,26:351:99:0|1:54767339_G_A:114,0,13515:54767339	18	0	3	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P,	.	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	724.68	38	chr19	54767342	.	T	C	724.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.300e-02;DP=3993;ExcessHet=0.3300;FS=1.028;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.41;MQRankSum=-1.835e+01;QD=0.54;ReadPosRankSum=-6.200e-01;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,26:353:99:0|1:54767339_G_A:107,0,13614:54767339	18	0	3	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs,	.	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	834.64	38	chr19	54767348	.	TC	T	834.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.180e-01;DP=3969;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.38;MQRankSum=-1.822e+01;QD=0.64;ReadPosRankSum=0.322;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,26:348:99:0|1:54767339_G_A:122,0,13442:54767339	18	0	3	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del,	.	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	967.64	38	chr19	54767351	.	AAAG	A	967.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.515e+00;DP=4059;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.35;MQRankSum=-1.729e+01;QD=0.75;ReadPosRankSum=0.647;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:316,26:342:99:0|1:54767339_G_A:141,0,13149:54767339	18	0	3	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|2:316,0,26:342:99:0|1:54767339_G_A:141,1092,14320,0,13228,13149:54767339	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|1:443,73:516:99:0|1:54773456_T_C:1732,0,18102:54773456	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	0/1:515,121:636:99:3535,0,14074	12	0	9	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:476,0,96:572:99:0|1:54775321_A_G:2598,3953,23873,0,19952,19698:54775321	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:476,0,96:572:99:0|1:54775321_A_G:2598,3953,23873,0,19952,19698:54775321	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:473,0,93:566:99:0|1:54775321_A_G:2481,3860,23694,0,19815,19541:54775321	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:473,0,93:566:99:0|1:54775321_A_G:2481,3860,23694,0,19815,19541:54775321	14	0	1	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	0/1:94,120,8:222:99:.:.:3300,0,2178,3523,2459,8808	8	1	9	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	0/1:230,26:256:99:.:.:342,0,6148	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|1:258,30:288:99:0|1:54805940_TCTC_T:483,0,10743:54805940	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|1:267,30:297:99:0|1:54805940_TCTC_T:456,0,11121:54805940	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|1:287,42:329:99:0|1:54805940_TCTC_T:839,0,11917:54805940	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|1:311,48:359:99:0|1:54805940_TCTC_T:961,0,12698:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,80:494:99:0|1:54806034_C_A:2092,0,17048:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,81:495:99:0|1:54806034_C_A:2134,0,17045:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:433,75:508:99:0|1:54806034_C_A:1846,0,17956:54806034	7	0	12	2
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|1:457,74:531:99:0|1:54806034_C_A:1732,0,18967:54806034	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|1:446,72:518:99:0|1:54806034_C_A:1681,0,18511:54806034	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|1:449,72:521:99:0|1:54806034_C_A:1672,0,18637:54806034	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|1:440,70:510:99:0|1:54806034_C_A:1615,0,18265:54806034	6	0	15	0
chr19	54806123	54806123	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C534G:p.F178L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.726	P	0.209	B	.	.	1.000	N	2.57	M	2.55	T	-1.034	T	0.035	T	0.252	0.673	7.600	-0.094	0.008	0.255	3.148	0.031	0.000640269659551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.737e-06	5.448e-06	0	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.52492	T	0.254	0.25987	T	0.726	0.42471	P	0.209	0.37260	B	.	.	.	.	1	0.08975	N	2.63	0.76995	M	2.55	0.13795	T	-4.13	0.75139	D	0.149	0.23506	-1.0335	0.19332	T	0.035	0.15074	T	9	0.11178583	0.20944	T	6.4E-4	0.00334	T	0.031	0.07369	.	.	0.0675242888579	0.06100	0.02492111056342177	0.02443	1.97870398401	0.93635	.	.	.	.	.	.	-0.225158	0.17293	T	-0.5612	0.16264	T	0.240806773304939	0.22457	T	.	.	.	.	.	.	.	.	.	.	.	-7.782	0.59574	D	.	.	0.812	0.84697	P	.;.;.;.;.;.	.;.;.;.;.;.	1.162193	0.15510	11.90	0.8526803635123269	0.15788	0.00661	0.02862	N	AEFDBI	0.043687	0.06936	N	-0.829909193909291	0.12550	0.612442	-1.04751644522174	0.08758	0.4322153	1.16407371566125E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-0.0944	0.12981	0.748000	0.25970	.	.	0.286000	0.18717	0.003000	0.16062	0.000000	0.08366	0.023000	0.12082	0.0:0.6768:0.0:0.3232	3.148	0.06091	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	0.02381	1126.98	292	chr19	54806123	.	C	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.872;DP=6886;ExcessHet=0.0000;FS=9.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.43;MQRankSum=-1.993e+01;QD=2.24;ReadPosRankSum=-3.437e+00;SOR=1.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:444,59:503:99:0|1:54806034_C_A:1141,0,18466:54806034	20	0	1	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|1:330,55:385:99:0|1:54808838_C_T:1296,0,13630:54808838	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|1:352,55:407:99:0|1:54808838_C_T:1250,0,14586:54808838	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|1:349,54:403:99:0|1:54808838_C_T:1217,0,14463:54808838	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	0/1:362,47:409:99:887,0,10455	7	0	14	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T	.	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.017	B	0.016	B	.	.	1.000	N	1.91	M	7.22	T	-0.957	T	0.001	T	0.113	-0.230	2.891	-1.44	-0.785	-0.866	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3117.3	35	chr19	54830166	.	G	C	3117.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-4.161e+00;DP=4417;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.67;MQRankSum=-1.789e+01;QD=1.56;ReadPosRankSum=-1.700e-02;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,40:391:99:0|1:54830134_C_T:623,0,14618:54830134	14	0	6	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C	.	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.004	B	.	.	1.000	N	1.505	L	7.16	T	-0.972	T	0.001	T	0.117	-0.254	2.778	0.569	0.567	0.678	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3228.3	35	chr19	54830177	.	C	T	3228.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.737e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.794e+01;QD=1.57;ReadPosRankSum=1.91;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,40:393:99:0|1:54830134_C_T:617,0,14702:54830134	14	0	6	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P	.	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.003	B	.	.	1.000	N	0.605	N	7.24	T	-0.908	T	0.001	T	0.094	-2.412	0.003	-1.14	-1.579	-0.469	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3252.3	35	chr19	54830178	.	G	C	3252.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.995e+00;DP=4479;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.62;MQRankSum=-1.808e+01;QD=1.58;ReadPosRankSum=2.10;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,40:391:99:0|1:54830134_C_T:623,0,14618:54830134	14	0	6	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T	.	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	.	.	1.000	N	0.895	L	7.02	T	-0.948	T	0.001	T	0.085	-3.212	0.001	-0.727	-0.235	-0.860	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3351.3	35	chr19	54830217	.	T	C	3351.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.492e+00;DP=4457;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.828e+01;QD=1.65;ReadPosRankSum=4.76;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,39:378:99:0|1:54830134_C_T:617,0,14117:54830134	14	0	6	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M	.	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.015	B	0.004	B	.	.	1.000	N	0.05	N	7.16	T	-0.949	T	0.001	T	0.116	-0.161	3.214	0.569	-0.221	-0.021	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3297.3	35	chr19	54830219	.	T	A	3297.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.982e+00;DP=4460;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.66;MQRankSum=-1.825e+01;QD=1.62;ReadPosRankSum=4.19;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,39:381:99:0|1:54830134_C_T:608,0,14243:54830134	14	0	6	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M	.	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.226	B	0.042	B	.	.	1.000	N	0.66	N	7.16	T	-0.970	T	0.001	T	0.116	-0.776	0.741	-1.01	-0.398	-1.561	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3090.3	35	chr19	54830226	.	C	T	3090.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.236e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.69;MQRankSum=-1.825e+01;QD=1.51;ReadPosRankSum=2.95;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,39:378:99:0|1:54830134_C_T:617,0,14117:54830134	14	0	6	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6	.	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2796.99	35	chr19	54830252	.	TC	T	2796.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.582e+00;DP=4357;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.62;MQRankSum=-1.642e+01;QD=1.45;ReadPosRankSum=-1.343e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,37:346:99:0|1:54830134_C_T:623,0,12863:54830134	15	0	6	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2545.27	35	chr19	54830255	.	AAAG	A	2545.27	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.717e+00;DP=4318;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.64;MQRankSum=-1.636e+01;QD=1.34;ReadPosRankSum=-1.346e+00;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,35:333:99:0|1:54830134_C_T:573,0,12408:54830134	14	0	6	1
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	0/2:304,107,91:502:99:.:.:2527,648,9666,0,6782,14130	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|1:302,61:363:99:0|1:54855608_TCTC_T:1652,0,12497:54855608	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|1:301,61:362:99:0|1:54855608_TCTC_T:1655,0,12432:54855608	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|1:342,28:370:99:0|1:54855666_CAG_C:126,0,14225:54855666	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|1:342,28:370:99:0|1:54855666_CAG_C:126,0,14225:54855666	14	0	7	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S,	.	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.964	D	0.599	P	.	.	1.000	N	0.95	L	7.02	T	-0.867	T	0.001	T	0.044	-0.290	2.614	-0.604	-0.204	0.241	2.974	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	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	0.09524	1957.92	34	chr19	54859084	.	C	T	1957.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.106e+00;DP=2332;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=44.36;MQRankSum=-6.845e+00;QD=1.26;ReadPosRankSum=-1.042e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:399,32:431:99:148,0,9857	17	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62,	.	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859096	.	TGG	T	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.373e+00;DP=2349;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.43;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.420;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:408,32:440:99:0|1:54859096_TGG_T:116,0,17028:54859096	17	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859099	.	C	CAT	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.465e+00;DP=2344;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.29;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.484;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:408,32:440:99:0|1:54859096_TGG_T:116,0,17028:54859096	17	0	4	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|1:207,50:257:99:0|1:54865770_G_A:1476,0,8541:54865770	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|1:226,53:279:99:0|1:54865770_G_A:1545,0,9330:54865770	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	0/1:226,55:281:99:.:.:1591,0,5831	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|1:237,55:292:99:0|1:54865770_G_A:1596,0,9786:54865770	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|1:231,52:283:99:0|1:54865770_G_A:1488,0,9543:54865770	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|1:223,50:273:99:0|1:54865770_G_A:1428,0,9213:54865770	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	0/1:211,51:262:99:.:.:1507,0,8233	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|1:215,48:263:99:0|1:54865770_G_A:1368,0,8865:54865770	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|1:210,49:259:99:0|1:54865770_G_A:1405,0,8623:54865770	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|1:250,55:305:99:0|1:54866416_T_C:1557,0,10332:54866416	7	0	14	0
chr19	55236643	55236643	C	T	exonic	PPP6R1	.	nonsynonymous SNV	PPP6R1:NM_014931:exon17:c.G1988A:p.R663Q,	.	.	430	1087	5	0	0	5	0.00229463	0.9800	0.776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	D	0.953	D	0.636	N	0.697	D	0.895	L	0.81	T	-0.920	T	0.111	T	0.106	1.900	12.31	3.65	1.335	2.732	10.417	0.092	.	0.0040	0.00339457	0.0140	0.0020	0.0041	0	0.0439	0.0177	0.0082	0.0062	0.0051487	796	154602	rs138501306	0.0064	0.0064	0.0065	0.0062	0.0069	0.0063	0.0062	0.0068	0.0067	0.0007	0.0016	0.0019	0	0.0170	0.0021	0.0069	0.0048	0.0025	0.0053	0.0053	0.0049	0.0058	0.0072	0.0050	0.0049	0.0066	0.0064	0.0009	0	0.0018	0.0023	0.0002	0.0217	0	0.0072	0.0052	0.0025	0.086	0.32610	T	0.056	0.46632	T	0.997	0.70673	D	0.953	0.69275	D	0.635901	0.05840	N	1.226840	0.696699	0.33380	D	2.525	0.73725	M	0.81	0.48460	T	-0.86	0.23372	N	0.371	0.54059	-0.9196	0.45608	T	0.111	0.39888	T	9	0.007813603	0.00177	T	.	.	.	0.092	0.26621	.	.	0.34936206512	0.34543	0.22641693134365387	0.22556	0.377979842686	0.39223	0.643776655197	0.59101	T	0.103855	0.41290	T	-0.53551	0.00356	T	-0.530969	0.19191	T	0.0220971618079203	0.00919	T	0.743426	0.36288	T	0.03804837	0.04996	0.047305405	0.06783	0.03804837	0.04996	0.047305405	0.06783	-4.355	0.28941	T	.	.	0.095	0.14979	B	.;.	.;.	5.603932	0.92480	32	0.99473342693213496	0.66472	0.95501	0.64972	D	AEFBI	0.560355	0.56880	D	-0.130997614536097	0.36047	2.078419	-0.0898217276448571	0.35810	2.076218	0.0113857638468825	0.12176	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.69	3.65	0.40985	2.767000	0.47321	3.699000	0.39520	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.323000	0.25040	0.0:0.9065:0.0:0.0935	10.417	0.43515	988	0.01987	.;.	.	.	.	.	rs138501306	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	782.98	33	chr19	55236643	.	C	T	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-03;DP=767;ExcessHet=0.0000;FS=3.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.319;SOR=0.290	GT:AD:DP:GQ:PL	0/1:29,30:59:99:797,0,827	20	0	1	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	0/1:61,46,0:107:99:.:.:1722,0,2394,1905,2540,4446	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	0/1:61,46,0:107:99:.:.:1722,0,2394,1905,2540,4446	0	18	2	0
chr19	56460706	56460706	C	T	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon3:c.G143A:p.R48Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.007	B	0.002	B	0.785	N	1.000	N	2.17	M	4.52	T	-0.918	T	0.008	T	0.047	-0.776	0.742	-6.1	-1.408	-1.144	3.474	0.051	0.00136903394759	.	.	4.139e-05	0	0	0.0002	0	4.511e-05	0	0	3.23e-05	5	154602	rs777806361	3.905e-05	3.899e-05	5.454e-05	2.341e-05	0.0003	3.052e-05	2.787e-05	0.0002	0.0001	0.0003	0	7.669e-05	0.0003	1.873e-05	0.0002	2.7e-05	4.975e-05	0	4.6e-05	4.597e-05	5.139e-05	4.036e-05	0.0004	2.109e-05	1.527e-05	6.825e-05	2.856e-05	7.24e-05	0	6.546e-05	0	0.0004	0	0	1.47e-05	0	0	0.369	0.11586	T	0.214	0.26386	T	0.007	0.14184	B	0.002	0.06944	B	0.785399	0.06679	N	1.147620	1	0.18612	N	0.3	0.10203	N	4.52	0.01997	T	-1.06	0.27669	N	0.157	0.16308	-0.9177	0.45864	T	0.008	0.02638	T	10	0.05628088	0.06283	T	0.001369	0.01986	T	0.051	0.14325	0.681	0.81885	0.144782658237	0.14088	0.0829379554580297	0.08228	0.125001582203	0.14086	0.241492122412	0.02926	T	0.002981	0.02381	T	-0.614832	0.00118	T	-0.80093	0.01880	T	0.0102874953299761	0.00140	T	0.10159	0.00820	T	0.0364717	0.04493	0.032801434	0.02071	0.0364717	0.04493	0.032801434	0.02071	-4.499	0.30876	T	.	.	0.083	0.25946	B	.;.;.;.;.	.;.;.;.;.	0.645658	0.10142	6.885	0.75968805118468252	0.11282	0.00214	0.01215	N	AEFBI	0.026304	0.01950	N	-1.48629286667797	0.01946	0.08544832	-1.63051420763971	0.01480	0.06697204	0.00184400549426871	0.08939	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	4.28	-6.1	0.01956	-0.855000	0.04403	.	.	-0.181000	0.10308	0.006000	0.17386	0.000000	0.08366	0.912000	0.44740	0.1263:0.5238:0.1286:0.2214	3.474	0.07144	988	0.01987	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	316.98	34	chr19	56460706	.	C	T	316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.607;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.73;ReadPosRankSum=-5.280e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/1:26,15:41:99:331,0,638	20	0	1	0
chr19	57704871	57704871	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon2:c.G142A:p.A48T,	.	.	.	.	.	.	.	.	.	.	.	2374061	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.954	P	0.587	P	.	.	1.000	N	1.37	L	4.68	T	-0.897	T	0.009	T	0.148	2.813	15.37	2.95	1.966	-0.219	9.568	0.078	0.00454829158338	.	0.000199681	4.95e-05	0	0	0	0	9.006e-05	0	0	5.17e-05	8	154602	rs182712034	5.204e-05	5.267e-05	5.178e-05	5.23e-05	0.0002	4.262e-05	3.891e-05	4.44e-05	4.03e-05	0	2.259e-05	0.0001	0	3.746e-05	0.0002	5.578e-05	0.0001	0	5.913e-05	5.906e-05	8.998e-05	2.687e-05	0.0001	3.077e-05	2.21e-05	5.844e-05	4.24e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.181	0.21884	T	0.114	0.36765	T	0.954	0.54400	P	0.587	0.50368	P	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.68	0.01715	T	-2.03	0.46673	N	0.118	0.10769	-0.8973	0.48264	T	0.009	0.03271	T	9	0.078614235	0.12549	T	0.004548	0.11220	T	0.078	0.22779	.	.	0.274366138417	0.27033	0.04498097710612342	0.04442	0.306553085064	0.32958	0.266515552998	0.05692	T	0.005504	0.04952	T	-0.451294	0.01110	T	-0.63772	0.09835	T	0.156470652813443	0.17607	T	.	.	.	0.16583449	0.36880	0.19398412	0.42996	0.16583449	0.36879	0.19398412	0.42995	-6.282	0.48579	T	.	.	0.142	0.31279	B	.	.	2.406978	0.30930	18.59	0.96946143507819715	0.31719	0.06795	0.12819	N	AEFBI	0.045073	0.07329	N	-0.221788129267656	0.32240	1.816146	-0.355646841131163	0.26335	1.453926	0.00311623471443494	0.09935	0.67177	0.52595	0	0.601575	0.49859	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.95	2.95	0.33285	-0.241000	0.08958	.	.	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.0:1.0:0.0:0.0	9.568	0.38574	970	0.06235	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	2448.98	33	chr19	57704871	.	C	T	2448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.306e+00;DP=947;ExcessHet=0.0000;FS=0.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=1.05;SOR=0.646	GT:AD:DP:GQ:PL	0/1:142,106:248:99:2463,0,3624	20	0	1	0
chr20	1163147	1163147	C	T	exonic	PSMF1	.	nonsynonymous SNV	PSMF1:NM_001323407:exon5:c.C305T:p.P102L	.	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.32	T	-0.353	T	0.360	T	0.777	2.228	13.41	3.31	0.779	6.242	12.889	0.293	0.0769065958445	0.0007	0.000399361	0.0006	0.0006	0.0007	0	0	0.0009	0.0011	0.0001	0.0006727	104	154602	rs147039294	0.0006	0.0006	0.0006	0.0006	0.0015	0.0006	0.0006	0.0012	0.0011	0.0002	0.0015	0.0002	0	3.744e-05	0.0010	0.0007	0.0007	0	0.0006	0.0006	0.0006	0.0005	0.0012	0.0005	0.0004	0.0008	0.0006	0.0002	0	0.0012	0	0	0	0	0.0009	0.0005	0.0002	0.023	0.59928	D	0.056	0.70582	T	0.958	0.54977	D	0.698	0.54098	P	0.000001	0.84330	D	0.057580	1	0.81001	D	2.95	0.84923	M	1.32	0.35960	T	-6.3	0.90937	D	0.915	0.92317	-0.3535	0.73452	T	0.360	0.72193	T	10	0.06127751	0.07657	T	0.076907	0.72645	D	0.293	0.61272	.	.	0.402043589563	0.39814	0.764729780768161	0.76421	0.399169766946	0.40951	0.64291447401	0.58979	T	0.111325	0.51739	T	-0.196708	0.21279	T	-0.0625979	0.66150	T	0.115513779222965	0.13986	T	0.854215	0.54045	D	0.54618025	0.69742	0.5427955	0.73574	0.54618025	0.69744	0.5427955	0.73575	-7.315	0.56302	T	.	.	0.240	0.60587	B	.;.;.;.	.;.;.;.	5.127127	0.85786	28.7	0.95976633030307412	0.28346	0.98505	0.83492	D	AEFDBHI	0.726642	0.67524	D	0.278882079597147	0.55079	3.672303	0.227979591586721	0.51405	3.323384	0.999988447065978	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	3.31	0.37025	6.463000	0.73445	5.978000	0.52118	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.2949:0.7051:0.0:0.0	12.889	0.57455	917	0.20147	PI31 proteasome regulator, C-terminal;PI31 proteasome regulator, C-terminal;PI31 proteasome regulator, C-terminal;PI31 proteasome regulator, 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	851.98	33	chr20	1163147	.	C	T	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=776;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.06;ReadPosRankSum=0.802;SOR=0.796	GT:AD:DP:GQ:PL	0/1:55,39:94:99:866,0,1219	20	0	1	0
chr20	2484294	2484294	G	A	exonic	ZNF343	.	nonsynonymous SNV	ZNF343:NM_001282498:exon4:c.C397T:p.P133S	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.002	B	0.004	B	.	.	1.000	N	0.505	N	3.2	T	-0.923	T	0.010	T	0.02	0.114	4.615	-1.83	-0.099	0.410	1.263	0.007	0.00133164561496	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs781313156	3.489e-05	3.489e-05	3.675e-05	3.3e-05	0.0007	2.697e-05	2.438e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.047e-05	3.311e-05	0	1.314e-05	1.314e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.711	0.04032	T	1.0	0.11041	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.59	0.15444	N	3.2	0.07236	T	-0.6	0.17834	N	0.013	0.00407	-0.9230	0.45141	T	0.010	0.03582	T	9	0.048047543	0.04204	T	0.001332	0.01885	T	0.007	0.00512	0.236	0.16608	0.0138822411134	0.00435	0.08189157717536968	0.08124	0.0677330139699	0.07574	0.199268162251	0.00436	T	9.39E-4	0.00486	T	-0.536135	0.00353	T	-0.851532	0.00941	T	0.0427689968326025	0.04196	T	0.425957	0.11436	T	0.018439623	0.00366	0.033654477	0.02297	0.018439623	0.00365	0.033654477	0.02297	-3.781	0.20521	T	.	.	0.074	0.06571	B	.;.;.	.;.;.	-0.217586	0.03003	0.454	0.4929923492648714	0.04186	0.02847	0.07602	N	AEFBI	0.023986	0.01416	N	-1.40986112890293	0.02551	0.1128107	-1.45263712382418	0.02746	0.1268837	1.06265170387266E-4	0.05123	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.28	-1.83	0.07410	-0.131000	0.10461	0.971000	0.23058	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2539:0.1647:0.4151:0.1663	1.263	0.01884	900	0.24599	.;.;.	.	.	.	.	.	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	3739.98	34	chr20	2484294	.	G	A	3739.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=980;ExcessHet=0.0000;FS=1.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=2.19;SOR=0.603	GT:AD:DP:GQ:PL	0/1:130,146:276:99:3754,0,3118	20	0	1	0
chr20	2815761	2815761	C	T	exonic	C20orf141	.	nonsynonymous SNV	C20orf141:NM_080739:exon2:c.C484T:p.H162Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.009	B	0.007	B	.	.	1.000	N	0.805	L	.	.	-1.018	T	0.064	T	0.2	2.009	12.67	1.46	1.162	0.689	3.446	0.035	0.00429133927704	7.7e-05	.	0.0002	0	8.642e-05	0	0	0.0002	0	0.0005	0.000207	32	154602	rs143521978	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0	0.0002	0	0	0	0.0002	0.0002	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	0.0001	0	0	0	0.0136	0.0003	0	0	0.0	0.91255	D	0.0	0.92824	D	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	.	.	.	-5.0	0.82341	D	0.268	0.30347	-1.0176	0.24495	T	0.064	0.26632	T	8	0.05811879	0.06784	T	0.004291	0.10404	T	0.035	0.08770	.	.	0.341934017632	0.33809	0.18156244118907594	0.18075	0.0877359232739	0.09904	.	.	.	0.112677	0.42914	T	-0.353811	0.04492	T	-0.429845	0.29952	T	0.102698840900503	0.12652	T	0.50065	0.15660	T	0.49851242	0.67008	0.4669607	0.69074	0.49851242	0.67009	0.4669607	0.69074	-3.547	0.17096	T	.	.	0.115	0.23005	B	.;.	.;.	2.475749	0.31918	18.89	0.99492278656462263	0.67516	0.09753	0.15437	N	AEFBI	0.052256	0.09309	N	-0.534014469608512	0.20987	1.11051	-0.474805435459209	0.22850	1.243193	0.991241143157289	0.32422	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.59	1.46	0.21769	1.438000	0.34612	-0.057000	0.12472	0.592000	0.32167	0.008000	0.17931	0.001000	0.17328	0.657000	0.32885	0.202:0.584:0.0:0.214	3.446	0.07050	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	1	0	0	0	0.02381	704.98	43	chr20	2815761	.	C	T	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.990e-01;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.434;SOR=0.573	GT:AD:DP:GQ:PL	0/1:20,31:51:99:719,0,444	20	0	1	0
chr20	3122542	3122542	C	T	exonic	UBOX5	.	nonsynonymous SNV	UBOX5:NM_001267584:exon3:c.G97A:p.D33N	.	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	1.0	D	0.000	U	1.000	D	2.3	M	1.22	T	-0.638	T	0.240	T	0.181	3.973	20.3	5.04	2.335	5.695	18.397	0.248	0.0391178689889	0.0002	0.000599042	0.0012	9.93e-05	8.754e-05	0	0.0052	0.0010	0.0023	0.0024	0.0009638	149	154602	rs146142981	0.0005	0.0005	0.0004	0.0006	0.0024	0.0005	0.0005	0.0021	0.0020	6.027e-05	0.0001	0	0	0.0040	0.0009	0.0003	0.0006	0.0024	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	4.812e-05	0	0.0002	0	0	0.0019	0	0.0005	0.0005	0.0012	0.142	0.25457	T	0.162	0.31225	T	1.0	0.90584	D	1.0	0.97372	D	0.000030	0.55875	U	0.114382	0.999962	0.52935	D	2.095	0.58118	M	1.22	0.37052	T	-1.58	0.38540	N	0.743	0.74280	-0.6378	0.63239	T	0.240	0.60750	T	10	0.009525418	0.00215	T	0.039118	0.58623	D	0.248	0.55615	.	.	0.611003947198	0.60787	0.5651355608238637	0.56440	0.287836817599	0.31183	0.623332500458	0.56200	T	0.077185	0.35596	T	-0.469179	0.00860	T	-0.451957	0.27482	T	0.0574423494604138	0.06760	T	0.944805	0.79065	D	0.17502372	0.38339	0.12683475	0.30540	0.17502372	0.38338	0.12683475	0.30539	-6.644	0.51848	T	.	.	0.154	0.40360	B	.;.;.	.;.;.	4.727341	0.76104	26.5	0.99908702239961755	0.97875	0.96143	0.67729	D	AEFBHI	0.623421	0.60737	D	0.704478209555246	0.79927	7.182164	0.656641140829314	0.79107	7.01281	0.99999998554833	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.04	5.04	0.67293	5.810000	0.68852	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.397	0.90445	584	0.69381	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1439.98	36	chr20	3122542	.	C	T	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.092;DP=822;ExcessHet=0.0000;FS=1.416;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=0.521;SOR=0.884	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1454,0,1600	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	0/1:61,58:130:99:422,0,690	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	0/2:45,0,43:88:99:1071,1206,2473,0,1267,1137	18	0	2	0
chr20	20571565	20571565	T	A	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon23:c.A3049T:p.R1017W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.86	P	0.566	P	0.000	D	0.934	D	1.795	L	-0.31	T	-0.279	T	0.317	T	0.575	3.762	19.10	5.78	2.205	6.207	13.146	0.375	0.139718871522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.86	0.47373	P	0.438	0.45631	B	0.000244	0.46924	D	0.272597	0.933575	0.37059	D	2.085	0.57729	M	-0.31	0.68030	T	-4.67	0.79571	D	0.706	0.70966	-0.2790	0.75568	T	0.317	0.68673	T	10	0.6943779	0.72052	D	0.139719	0.82219	D	0.375	0.69358	0.476	0.55342	0.68444642936	0.68175	0.6279246888565588	0.62725	0.244522584449	0.26956	0.332974910736	0.15383	T	0.356641	0.72346	T	0.0654605	0.60291	T	-0.143747	0.59791	T	0.994698286056519	0.86141	D	0.988576	0.96102	D	0.41691366	0.61886	0.39684013	0.64315	0.41691366	0.61887	0.39684013	0.64315	-11.762	0.83672	D	.	.	0.309	0.53724	B	.	.	4.497858	0.70319	25.5	0.99887881307035076	0.96281	0.81140	0.40608	D	AEFDGBHCI	0.831111	0.74970	D	0.530046303031769	0.68875	5.277804	0.586835147091715	0.73996	6.062493	0.999987054876852	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	6.188000	0.71968	2.908000	0.35491	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1329:0.8671	13.146	0.58882	438	0.80235	.	.	.	.	.	.	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	996.98	34	chr20	20571565	.	T	A	996.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.018;DP=741;ExcessHet=0.0000;FS=0.981;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-3.820e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:22,41:63:99:1011,0,455	20	0	1	0
chr20	20639859	20639859	T	C	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon7:c.A592G:p.I198V,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.031	N	1.000	N	-1.5	N	-0.92	T	-0.980	T	0.076	T	0.123	-1.873	0.008	-11.4	-3.849	-1.028	18.426	0.055	0.0171302650153	.	.	2.484e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs747898918	2.669e-05	2.668e-05	2.86e-05	2.476e-05	3.149e-05	1.998e-05	1.754e-05	2.286e-05	2.023e-05	2.988e-05	0	0	0	3.746e-05	0	3.149e-05	0	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.688e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	9.411e-05	0	5.879e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.030503	0.25297	N	0.475219	1	0.08975	N	-1.36	0.00644	N	-0.92	0.75108	T	0.54	0.02764	N	0.182	0.19728	-0.9798	0.35048	T	0.076	0.30492	T	10	0.023140341	0.00597	T	0.01713	0.38702	T	0.180	0.45073	0.263	0.20788	0.156986980423	0.15292	0.08304492885374068	0.08239	0.0648658095776	0.07242	0.241297498345	0.02908	T	0.015792	0.13179	T	-0.353279	0.04525	T	-0.559333	0.16438	T	0.0186873278697415	0.00581	T	0.607439	0.22904	T	0.022330174	0.00889	0.043861683	0.05553	0.022330174	0.00889	0.043861683	0.05553	-2.895	0.09094	T	.	.	0.052	0.00220	B	.	.	-2.866468	0.00013	0.001	0.10627095135271511	0.00139	0.01036	0.03877	N	AEFBI	0.026531	0.02009	N	-2.38255835304637	0.00030	0.001279371	-2.39901374283039	0.00039	0.001734428	0.999826719543757	0.43622	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.68	-11.4	0.00070	-0.984000	0.03865	-9.530000	0.00809	-2.479000	0.00271	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.3271:0.0:0.6729	18.426	0.90554	459	0.78817	.	.	.	.	.	.	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	1058.98	33	chr20	20639859	.	T	C	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.446;DP=785;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.657;SOR=0.808	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1073,0,992	20	0	1	0
chr20	23452712	23452712	C	T	exonic	CST11	.	nonsynonymous SNV	CST11:NM_080830:exon1:c.G100A:p.V34I	.	.	429	1090	3	0	0	3	0.00137426	.	.	2340002	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.781	P	0.13	B	0.386	N	1.000	N	0.955	L	2.84	T	-1.008	T	0.020	T	0.072	0.664	7.556	-3.59	-0.680	-0.975	9.393	0.028	0.00153388877116	0.0002	0.000199681	0.0002	0	0.0003	0.0001	0	0.0002	0.0011	6.056e-05	0.0001488	23	154602	rs144406731	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.834e-05	0.0001	7.816e-05	8.961e-05	0.0002	0.0033	5.038e-05	0	0.0002	3.957e-05	0.0003	0.0001	0.0001	0.0001	0.0002	0.0001	0.0002	9.144e-05	7.7e-05	5.842e-05	4.239e-05	7.221e-05	0	6.535e-05	0.0014	0	0	0	0.0001	0.0014	0.0002	0.269	0.19157	T	0.449	0.23365	T	0.781	0.44300	P	0.13	0.32896	B	0.386484	0.13315	N	0.721650	1	0.08975	N	0.355	0.11969	N	2.84	0.17596	T	0.07	0.12099	N	0.087	0.09914	-1.0080	0.27541	T	0.020	0.08500	T	10	0.008605152	0.00195	T	0.001534	0.02394	T	0.028	0.06331	.	.	0.0666544352282	0.05500	0.08748732686125928	0.08681	0.012624245784	0.01203	0.336328446865	0.15888	T	0.021593	0.16786	T	-0.563781	0.00241	T	-0.778309	0.02505	T	0.0296013001352549	0.01929	T	0.534247	0.17838	T	0.021787517	0.00800	0.032611657	0.02023	0.021787517	0.00800	0.032611657	0.02023	-2.711	0.07396	T	.	.	0.076	0.08320	B	.;.	.;.	0.166481	0.05563	2.019	0.68835597570473328	0.08782	0.00955	0.03671	N	AEFDBI	0.024002	0.01418	N	-1.26886007958711	0.04056	0.1823542	-1.42245364000839	0.03028	0.1404988	0.0225205914545902	0.13437	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	3.86	-3.59	0.04290	-0.968000	0.03928	-1.006000	0.06630	-1.945000	0.00488	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4034:0.0:0.5966	9.393	0.37550	840	0.37365	Cystatin domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2124.98	33	chr20	23452712	.	C	T	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=892;ExcessHet=0.0000;FS=4.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.020;SOR=0.883	GT:AD:DP:GQ:PL	0/1:99,83:182:99:2139,0,2312	20	0	1	0
chr20	24665358	24665358	G	A	exonic	SYNDIG1	.	nonsynonymous SNV	SYNDIG1:NM_001323607:exon4:c.G631A:p.V211M	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.98	D	0.488	P	0.000	N	1.000	D	0.695	N	-2.04	D	-0.225	T	0.426	T	0.241	4.035	20.7	4.8	1.426	5.504	12.486	0.328	0.0180987060835	.	.	3.315e-05	0	0	0	0	6.021e-05	0	0	2.59e-05	4	154602	rs758967104	1.382e-05	1.71e-05	8.243e-06	1.945e-05	0.0002	9.02e-06	7.33e-06	8.55e-06	6.92e-06	0	4.955e-05	0	0	0	0.0002	1.445e-05	0	1.193e-05	6.567e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.044	0.41096	D	0.079	0.42086	T	0.98	0.59353	D	0.488	0.47288	P	0.000051	0.53742	N	0.073914	1	0.81001	D	1.04	0.26193	L	-2.04	0.85703	D	-0.69	0.19720	N	0.242	0.27316	-0.2254	0.77008	T	0.426	0.76969	T	10	0.3614087	0.52762	T	0.018099	0.40048	T	0.328	0.65026	0.216	0.13643	0.73344012459	0.73106	0.7274255494498155	0.72686	0.321949162257	0.34392	0.777216732502	0.78508	T	0.400698	0.75820	T	-0.0875761	0.38477	T	-0.227662	0.51997	T	0.400322616100311	0.28954	T	0.893711	0.63166	D	0.0972594	0.22923	0.11084076	0.26729	0.0972594	0.22922	0.11084076	0.26729	-7.809	0.59761	D	.	.	0.184	0.39898	B	.	.	4.772115	0.77261	26.7	0.99792184170438114	0.87750	0.95969	0.66943	D	AEFDBI	0.655333	0.62771	D	0.313678059827412	0.56849	3.850495	0.38650041167873	0.60731	4.26415	0.804237456757337	0.24240	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.75	4.8	0.61157	5.613000	0.67369	7.259000	0.57954	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0809:0.0:0.9191:0.0	12.486	0.55212	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	2038.98	37	chr20	24665358	.	G	A	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=898;ExcessHet=0.0000;FS=0.605;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-5.100e-01;SOR=0.621	GT:AD:DP:GQ:PL	0/1:67,83:150:99:2053,0,1427	20	0	1	0
chr20	25280970	25280970	G	A	exonic	PYGB	.	nonsynonymous SNV	PYGB:NM_002862:exon11:c.G1261A:p.G421S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.538	P	0.211	B	0.000	D	1.000	D	2.49	M	-3.29	D	0.750	D	0.780	D	0.677	2.611	14.69	4.02	2.231	6.393	16.293	0.612	0.216915789028	0.0007	0.000599042	0.0002	0.0021	0	0.0003	0	6.007e-05	0	6.075e-05	0.0002199	34	154602	rs141916716	7.868e-05	7.867e-05	8.577e-05	7.151e-05	0.0020	6.667e-05	6.202e-05	0.0016	0.0015	0.0020	0.0001	0	2.519e-05	0	0	3.058e-05	8.281e-05	4.638e-05	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0018	0	0.0002	0	0	0	0	1.47e-05	0	0	0.06	0.37326	T	0.062	0.45318	T	0.538	0.37867	P	0.211	0.37346	B	0.000002	0.62929	D	0.099894	1	0.81001	D	2.985	0.85602	M	-3.29	0.93740	D	-3.33	0.66206	D	0.799	0.79503	0.750	0.93788	D	0.780	0.92544	D	10	0.19913879	0.35911	T	0.216916	0.87583	D	0.612	0.84826	.	.	0.926504770512	0.92576	0.7118951827076129	0.71131	0.492454931877	0.47890	0.611383318901	0.54512	T	0.690298	0.90989	D	-0.0255467	0.48059	T	0.186224	0.82353	D	0.162595496838383	0.18061	T	0.888511	0.61827	D	0.6908652	0.77558	0.54225075	0.73543	0.6908652	0.77560	0.54225075	0.73544	-8.199	0.62419	D	0.25056406493886435	0.33912	0.155	0.34250	B	.	.	3.924502	0.57317	23.8	0.99529824922543442	0.69777	0.94448	0.61199	D	AEFDBCI	0.749245	0.69074	D	0.199768075889534	0.51187	3.302109	0.186395351128877	0.49101	3.117429	0.999999988166349	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.02	4.02	0.45968	7.977000	0.87680	5.156000	0.47774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.198000	0.21837	0.0:0.0:1.0:0.0	16.293	0.82588	602	0.67834	.	.	.	.	.	.	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	1081.98	34	chr20	25280970	.	G	A	1081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=818;ExcessHet=0.0000;FS=2.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.14;SOR=0.446	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1096,0,1045	20	0	1	0
chr20	25476844	25476844	C	T	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G2447A:p.R816Q,	.	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.0	B	0.808	N	1.000	N	-0.255	N	1.93	T	-0.973	T	0.023	T	0.055	-0.604	1.303	2.52	0.497	0.512	4.907	0.060	0.00365544544835	.	.	8.459e-06	0	0	0	0	1.543e-05	0	0	6.5e-06	1	154602	rs766636534	4.107e-06	4.104e-06	1.362e-06	6.879e-06	2.237e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.237e-05	0	0	0	0	3.597e-06	1.656e-05	0	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.505	0.11004	T	0.01	0.15535	B	0.0	0.01387	B	0.807711	0.09275	N	0.909482	1	0.19694	N	-0.55	0.02420	N	1.93	0.22881	T	1.15	0.01151	N	0.099	0.08088	-0.9734	0.36474	T	0.023	0.09604	T	10	0.036993653	0.02027	T	0.003655	0.08402	T	0.060	0.17295	0.083	0.00760	0.143124449307	0.13826	0.22084762204393385	0.21999	0.121433819043	0.13684	0.229972869158	0.01966	T	0.002138	0.01537	T	-0.344261	0.05098	T	-0.732283	0.04225	T	0.0237685675594289	0.01117	T	0.536546	0.18022	T	0.022816665	0.00972	0.030247537	0.01457	0.022816665	0.00972	0.030247537	0.01457	-3.427	0.15422	T	.	.	0.079	0.07318	B	.	.	0.515038	0.08836	5.617	0.37512949579609467	0.02476	0.00078	0.00535	N	AEFBI	0.015563	0.00303	N	-1.38915590579259	0.02739	0.1213768	-1.34312021174421	0.03888	0.1822667	0.00684088715545753	0.11320	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.61	2.52	0.29514	1.159000	0.31360	1.287000	0.25388	-0.281000	0.06419	0.003000	0.16062	0.945000	0.28875	0.008000	0.08271	0.0:0.1489:0.0:0.8511	4.907	0.13160	575	0.70088	.	.	.	.	.	.	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	1565.98	37	chr20	25476844	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=895;ExcessHet=0.0000;FS=1.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-5.380e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:40,60:100:99:1580,0,864	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	0/1:88,64:152:99:445,0,1321	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	0/1:104,95:199:99:2177,0,2441	19	0	2	0
chr20	38013333	38013333	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.G484A:p.A162T	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.992	D	0.813	P	0.000	N	1.000	D	2.28	M	-0.25	T	-0.395	T	0.380	T	0.274	3.649	18.55	4.41	1.499	3.502	13.007	0.391	0.0427066949098	0.0032	0.000798722	0.0032	0.0005	0.0008	0	0.0045	0.0047	0.0011	0.0021	0.0031953	494	154602	rs34249579	0.0035	0.0035	0.0036	0.0035	0.0041	0.0034	0.0034	0.0040	0.0040	0.0004	0.0007	3.826e-05	0	0.0038	0.0003	0.0041	0.0025	0.0018	0.0024	0.0024	0.0025	0.0023	0.0041	0.0022	0.0021	0.0037	0.0035	0.0005	0	0.0006	0.0003	0	0.0044	0	0.0041	0.0009	0.0015	0.026	0.46910	D	0.011	0.64786	D	0.992	0.64738	D	0.813	0.58748	P	0.000103	0.50451	N	0.203882	0.999902	0.50806	D	1.995	0.54099	M	-0.25	0.67011	T	-2.55	0.55181	D	0.176	0.18920	-0.3952	0.72178	T	0.380	0.73684	T	10	0.0108932555	0.00241	T	0.042707	0.60604	D	0.391	0.70684	.	.	0.755346683103	0.75313	0.4660190911155813	0.46520	0.168622775223	0.19010	0.383405983448	0.22738	T	0.088332	0.38135	T	-0.368203	0.03686	T	-0.300584	0.44662	T	0.0244759054572206	0.01205	T	0.90091	0.65583	D	0.2428446	0.47216	0.2331448	0.48495	0.21153484	0.43480	0.23804887	0.49117	-6.791	0.52492	T	.	.	0.137	0.30582	B	.;.;.	.;.;.	3.630033	0.51418	23.1	0.99853686732717895	0.93279	0.96834	0.71191	D	AEFBIJ	.	.	.	0.461668325595995	0.64867	4.751338	0.438491397607659	0.63982	4.643204	0.993924608083902	0.33413	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.35	4.41	0.52588	3.551000	0.53445	2.787000	0.34772	0.599000	0.40250	0.997000	0.40164	0.994000	0.32194	0.994000	0.71098	0.0:0.9233:0.0:0.0767	13.007	0.58118	750	0.51762	.;.;.	.	.	.	.	.	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	2126.98	36	chr20	38013333	.	C	T	2126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.555;SOR=0.713	GT:AD:DP:GQ:PL	0/1:77,80:157:99:2141,0,1676	20	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T,	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.82	M	0.56	T	-0.099	T	0.396	T	0.851	4.753	26.6	5.27	2.134	8.040	15.488	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	69.59	45	chr20	41100210	.	T	C	69.59	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.482e+00;DP=972;ExcessHet=1.7912;FS=83.153;InbreedingCoeff=-0.1659;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.377;SOR=8.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,15:58:20:.:.:20,0,750	15	0	6	0
chr20	42119955	42119955	C	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon20:c.G2864A:p.R955Q	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.914	P	0.2	B	0.000	D	1.000	D	1.41	L	-1.75	D	-0.175	T	0.380	T	0.469	3.498	17.88	5.6	2.631	2.118	13.855	0.368	0.0645488525267	.	.	8.32e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs750813623	9.616e-06	9.577e-06	9.569e-06	9.664e-06	5.131e-05	5.58e-06	4.37e-06	8.5e-06	3.32e-06	0	0	0	5.131e-05	0	0	9.015e-06	1.663e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.48186	D	0.079	0.42614	T	0.914	0.50529	P	0.2	0.36839	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.755	0.45626	L	-1.75	0.83495	D	-0.62	0.18248	N	0.603	0.64648	-0.1748	0.78311	T	0.380	0.73670	T	10	0.352215	0.52054	T	0.064549	0.69312	D	0.368	0.68757	0.556	0.67409	0.474515700568	0.47080	0.7869361384526585	0.78645	1.71841895604	0.90533	0.801496624947	0.82191	T	0.285073	0.66737	T	-0.01728	0.49240	T	-0.161968	0.58175	T	0.860053658485413	0.51056	D	0.793521	0.43550	T	0.33073702	0.55531	0.15591542	0.36526	0.33073702	0.55531	0.15591542	0.36526	-8.753	0.67903	D	0.20098041481203704	0.26688	0.111	0.21987	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.411527	0.90581	31	0.9989877837351	0.97124	0.91075	0.52810	D	AEFI	0.246462	0.36721	N	0.320900202199364	0.57222	3.888806	0.403596477021575	0.61787	4.383987	0.00405633345190299	0.10397	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	2.188000	0.42243	7.672000	0.64834	0.599000	0.40250	0.953000	0.33222	1.000000	0.68203	0.994000	0.71098	0.0:0.9269:0.0:0.0731	13.855	0.63019	834	0.38640	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	658.98	39	chr20	42119955	.	C	T	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=780;ExcessHet=0.0000;FS=1.801;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.75;ReadPosRankSum=2.59;SOR=0.913	GT:AD:DP:GQ:PL	0/1:53,32:85:99:673,0,1266	20	0	1	0
chr20	45883833	45883833	C	T	exonic	ZSWIM1	.	nonsynonymous SNV	ZSWIM1:NM_080603:exon2:c.C1241T:p.P414L,	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.85	P	0.084	B	0.497	U	1.000	N	0.695	N	1.92	T	-1.083	T	0.033	T	0.511	0.328	5.780	3.37	0.773	1.741	10.708	0.099	0.00540328355272	.	.	7.466e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs761821569	4.448e-05	4.446e-05	2.86e-05	6.052e-05	0.0005	3.576e-05	3.258e-05	0.0004	0.0004	2.987e-05	0	0	0	0	0	1.349e-05	3.312e-05	0.0005	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.102	0.30235	T	0.073	0.43159	T	0.85	0.46913	P	0.084	0.29270	B	0.496837	0.11995	U	0.703243	1	0.08975	N	0.805	0.20218	L	1.92	0.23082	T	-1.44	0.35399	N	0.36	0.44090	-1.0833	0.06720	T	0.033	0.14029	T	10	0.07686791	0.12061	T	0.005403	0.13862	T	0.099	0.28413	0.434	0.48500	0.218112801441	0.21410	0.502110383489433	0.50133	0.295907360393	0.31983	0.49292755127	0.37845	T	0.003536	0.02940	T	-0.363324	0.03946	T	-0.410235	0.32198	T	0.0509814559330153	0.05672	T	0.816918	0.47330	T	0.06546591	0.13992	0.06342844	0.12561	0.06546591	0.13992	0.06342844	0.12561	-6.945	0.53632	T	.	.	0.102	0.21390	B	.;.	.;.	2.097395	0.26686	17.20	0.93294515554681823	0.23003	0.80891	0.40416	D	AEFDBCI	0.088465	0.17935	N	-0.191450375692899	0.33489	1.900547	-0.162424516656279	0.32932	1.87863	0.999986303743719	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.36	3.37	0.37692	0.942000	0.28615	3.013000	0.35970	0.599000	0.40250	0.375000	0.25965	1.000000	0.68203	0.533000	0.29776	0.4216:0.4681:0.1103:0.0	10.708	0.45164	758	0.50837	.;.	.	.	.	.	.	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	1559.98	44	chr20	45883833	.	C	T	1559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=967;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-3.540e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:77,59:136:99:1574,0,1894	20	0	1	0
chr20	49906820	49906820	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A362C:p.Y121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.96	D	0.663	P	0.005	N	1.000	D	1.5	L	-0.03	T	-0.679	T	0.243	T	0.725	2.673	14.90	4.5	0.929	3.710	10.019	0.331	0.030845030118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.036	0.52060	D	0.96	0.55278	D	0.663	0.52893	P	0.004612	0.33568	N	0.293492	0.991121	0.81001	D	2.095	0.58118	M	-0.03	0.63077	T	-2.87	0.60348	D	0.71	0.71498	-0.6788	0.61428	T	0.243	0.61201	T	10	0.58538824	0.66081	D	0.030845	0.53068	D	0.331	0.65325	0.434	0.48500	0.362933182269	0.35899	0.6727801292125147	0.67216	0.399734681576	0.40989	0.4348269701	0.29869	T	0.055225	0.29946	T	0.101775	0.64483	D	-0.0915834	0.64042	T	0.774645328521729	0.44721	D	0.831017	0.49766	T	0.51594	0.68026	0.20415933	0.44526	0.51594	0.68027	0.20415933	0.44525	-6.65	0.51433	T	.	.	0.125	0.27313	B	.;.	.;.	3.113050	0.41995	21.5	0.98055628144904006	0.37905	0.90706	0.52107	D	AEDBHCI	0.411785	0.48212	N	0.0525829897013685	0.44261	2.703404	0.0378185106348584	0.41487	2.493255	0.789198283229838	0.23985	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	4.5	0.54382	3.720000	0.54661	2.343000	0.32266	-0.255000	0.07062	1.000000	0.71638	0.998000	0.33993	0.975000	0.56047	0.2698:0.0:0.0:0.7302	10.019	0.41205	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	0	0	0	0	0.08333	527.98	39	chr20	49906820	.	T	G	527.98	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.444e+00;DP=1179;ExcessHet=0.3300;FS=254.639;InbreedingCoeff=-0.1201;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=1.65;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,25:88:99:0|1:49906820_T_G:255,0,1250:49906820	15	0	3	3
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F,	.	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.002	B	0.004	B	0.301	N	1.000	N	0.49	N	3.04	T	-0.984	T	0.011	T	0.117	1.471	10.86	-3.08	-0.884	-2.316	0.472	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	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	0.05	1447.8	34	chr20	56524998	.	C	T	1447.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.82;DP=1816;ExcessHet=0.1072;FS=15.013;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=58.28;MQRankSum=-1.812e+01;QD=1.87;ReadPosRankSum=-2.959e+00;SOR=2.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,38:373:99:0|1:56524998_C_T:545,0,13854:56524998	18	0	2	1
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A,	.	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.003	B	0.971	N	1.000	N	0.755	N	2.87	T	-0.930	T	0.022	T	0.2	1.063	9.340	3.17	0.040	0.452	9.126	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	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	0	0	0	0	0.04762	935.11	34	chr20	56525005	.	T	C	935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.08;DP=1439;ExcessHet=0.1072;FS=21.289;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.23;MQRankSum=-1.684e+01;QD=1.25;ReadPosRankSum=-1.917e+00;SOR=3.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,32:366:99:0|1:56524998_C_T:338,0,13894:56524998	19	0	2	0
chr20	59024346	59024346	C	T	exonic	TUBB1	.	nonsynonymous SNV	TUBB1:NM_030773:exon4:c.C919T:p.R307C,	Macrothrombocytopenia, autosomal dominant, TUBB1-related, Autosomal dominant	.	0	1498	22	2	0	26	0.00860357	.	.	705571	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.745	P	0.000	D	1.000	D	2.39	M	-1.53	D	0.010	D	0.361	T	0.297	5.069	31	5.41	2.545	6.064	18.156	0.546	.	0.0086	0.0111821	0.0044	0.0248	0.0067	0	0.0002	0.0017	0.0077	0.0051	0.0042043	650	154602	rs62639974	0.0024	0.0024	0.0024	0.0023	0.0272	0.0023	0.0023	0.0257	0.0251	0.0272	0.0076	0.0026	0	0.0005	0.0139	0.0013	0.0045	0.0043	0.0094	0.0094	0.0094	0.0095	0.0270	0.0090	0.0089	0.0256	0.0251	0.0270	0	0.0097	0.0020	0	9.407e-05	0.0374	0.0015	0.0142	0.0041	0.0	0.91255	D	0.021	0.58089	D	0.998	0.73220	D	0.745	0.55870	P	0.000445	0.44317	D	0.265266	1	0.81001	D	2.28	0.64929	M	-1.53	0.81559	D	-2.3	0.51157	N	0.271	0.30687	0.010	0.82461	D	0.361	0.72277	T	10	0.0141272545	0.00298	T	.	.	.	0.546	0.81135	.	.	0.892049687419	0.89097	0.565960005115113	0.56523	0.689860010486	0.60504	0.283094763756	0.07928	T	0.587559	0.86589	D	-0.29679	0.08966	T	-0.178823	0.56633	T	0.036190457100519	0.03015	T	0.972453	0.90064	D	0.35295853	0.57296	0.25138327	0.50748	0.39881447	0.60651	0.31276	0.57276	-4.435	0.30028	T	0.27746049455755273	0.37220	0.160	0.35288	B	.	.	4.454747	0.69278	25.4	0.99932022902227668	0.99439	0.95248	0.63988	D	AEFDGBCI	0.843418	0.76045	D	0.724369520006627	0.81230	7.473723	0.713758310210403	0.83425	8.017768	1.0	0.98316	0.498214	0.20090	0	0.379588	0.06130	0	0.463624	0.06942	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	6.145000	0.71533	4.861000	0.45471	0.599000	0.40250	0.986000	0.36153	0.995000	0.32472	0.996000	0.76049	0.0:1.0:0.0:0.0	18.156	0.89622	972	0.05671	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1851.98	43	chr20	59024346	.	C	T	1851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.080;DP=1461;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=-1.422e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:90,78:168:99:1866,0,2218	20	0	1	0
chr20	59880392	59880392	A	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon31:c.T2852C:p.I951T,	.	.	491	1010	19	2	0	23	0.011258	.	.	742490	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.873	P	0.523	P	0.116	N	0.676	D	1.905	M	1.99	T	-0.852	T	0.085	T	0.423	3.079	16.28	4.76	2.261	3.992	10.685	0.080	.	0.0023	0.00279553	0.0075	0.0028	0.0026	0.0002	0.0015	0.0053	0.0129	0.0242	0.004269	660	154602	rs151163205	0.0033	0.0033	0.0027	0.0039	0.0199	0.0032	0.0032	0.0191	0.0188	0.0018	0.0014	0.0110	2.54e-05	0.0011	0.0141	0.0021	0.0036	0.0199	0.0028	0.0028	0.0026	0.0029	0.0170	0.0026	0.0025	0.0140	0.0129	0.0020	0	0.0009	0.0118	0.0002	0.0008	0	0.0028	0.0024	0.0170	0.002	0.72154	D	0.089	0.40426	T	0.873	0.47975	P	0.523	0.48316	P	0.115937	0.19214	N	0.526307	0.675527	0.33183	D	2.36	0.67893	M	1.99	0.25996	T	-1.73	0.41428	N	0.549	0.57518	-0.8524	0.51802	T	0.085	0.33071	T	10	0.0054754317	0.00121	T	.	.	.	0.080	0.23350	.	.	0.198222871337	0.19423	0.1296067380900451	0.12885	0.181139919638	0.20371	0.383799672127	0.22794	T	0.325304	0.69603	T	-0.426602	0.01555	T	-0.370624	0.36816	T	0.0361782947290068	0.03013	T	0.759724	0.39899	T	0.17678405	0.38609	0.18749948	0.41986	0.17678405	0.38609	0.18749948	0.41985	-3.604	0.17915	T	.	.	0.366	0.65087	A	.;.;.	.;.;.	3.250656	0.44415	21.9	0.99779029259715812	0.86606	0.89916	0.50699	D	AEDI	0.323592	0.42573	N	0.398077559212782	0.61317	4.331235	0.410644987295162	0.62227	4.434644	0.00395175141296271	0.10355	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	4.616000	0.60900	6.810000	0.56646	0.691000	0.84096	0.986000	0.36153	0.976000	0.30059	0.975000	0.56047	0.8401:0.1599:0.0:0.0	10.685	0.45037	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	0.04762	1752.11	36	chr20	59880392	.	A	G	1752.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=830;ExcessHet=0.1072;FS=1.215;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=2.13;SOR=0.832	GT:AD:DP:GQ:PL	0/1:43,34:77:99:861,0,1048	19	0	2	0
chr20	63862888	63862888	G	C	exonic	ABHD16B	.	nonsynonymous SNV	ABHD16B:NM_080622:exon1:c.G1348C:p.V450L,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.004	B	0.004	B	0.004	N	0.966	N	0.665	N	0.96	T	-1.042	T	0.067	T	0.166	0.428	6.325	3.24	0.544	0.886	9.613	0.010	0.00624737022938	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150926976	2.887e-06	2.736e-06	4.274e-06	1.463e-06	3.713e-06	6.8e-07	4.6e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.713e-06	0	0	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.125	0.27310	T	0.774	0.04416	T	0.004	0.12183	B	0.004	0.10090	B	0.004194	0.34013	N	0.231800	0.965623	0.25930	N	1.74	0.45129	L	0.96	0.42888	T	-0.49	0.15578	N	0.114	0.10198	-1.0423	0.16621	T	0.067	0.27674	T	10	0.06943959	0.09965	T	0.006247	0.16406	T	0.010	0.01040	0.308	0.27967	0.413241256734	0.40943	0.2846512484145064	0.28378	0.486827894607	0.47528	0.480388104916	0.36111	T	0.002565	0.01954	T	-0.226752	0.17080	T	-0.557227	0.16638	T	0.0603482238948345	0.07224	T	0.556944	0.19352	T	0.043830838	0.06901	0.05737931	0.10420	0.043830838	0.06901	0.05737931	0.10419	-2.719	0.07464	T	.	.	0.152	0.33550	B	.	.	1.200838	0.15930	12.20	0.85139131371083843	0.15709	0.79921	0.39701	D	AEFDBCI	0.155240	0.28041	N	-0.38008205629697	0.26180	1.426833	-0.230293409460771	0.30457	1.714995	0.999990554768693	0.74766	0.700653	0.57754	0	0.71359	0.82159	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	5.29	3.24	0.36257	0.103000	0.15128	2.187000	0.31177	0.676000	0.76740	0.080000	0.22340	0.992000	0.31684	0.890000	0.42831	0.0:0.1608:0.6836:0.1556	9.613	0.38841	.	.	.	.	.	.	.	.	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	363.98	52	chr20	63862888	.	G	C	363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=869;ExcessHet=0.0000;FS=1.187;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=-7.430e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:33,20:53:99:378,0,770	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	1/1:0,293:293:99:9113,879,0	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	1/1:1,205:206:99:6198,607,0	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	1/1:0,183:183:99:5044,548,0	6	6	9	0
chr21	30166019	30166019	G	C	exonic	CLDN17	.	nonsynonymous SNV	CLDN17:NM_012131:exon1:c.C599G:p.P200R,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.584	P	0.17	B	0.763	N	1.000	N	0	N	0.19	T	-1.075	T	0.103	T	0.413	1.810	12.01	4.63	2.865	2.203	13.096	0.197	0.0113564658875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-06	8.993e-07	1e-06	7.3e-07	.	.	0	0	0	0	0	0	8.993e-07	6.623e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.134	0.34241	T	0.584	0.38894	P	0.17	0.35299	B	0.762512	0.06548	N	1.105560	0.999999	0.08975	N	0.895	0.22405	L	0.19	0.60236	T	-1.99	0.45949	N	0.314	0.35408	-1.0750	0.08348	T	0.103	0.38019	T	10	0.19694963	0.35607	T	0.011356	0.28906	T	0.197	0.47942	0.471	0.54537	0.741454687348	0.73913	0.4658156791655238	0.46500	0.034062690304	0.03576	0.280822485685	0.07607	T	0.012638	0.11071	T	-0.0793958	0.39814	T	-0.351823	0.38996	T	0.241901826006767	0.22507	T	0.470553	0.13922	T	0.07852427	0.17885	0.13992864	0.33371	0.07852427	0.17885	0.13992864	0.33370	-5.614	0.42920	T	.	.	0.085	0.10352	B	.	.	2.188829	0.27903	17.62	0.96924135102294984	0.31629	0.75417	0.36924	D	AEFBI	0.070193	0.13925	N	-0.4431262236162	0.23974	1.291228	-0.419297235551423	0.24431	1.337782	0.999996715437603	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.63	4.63	0.57175	2.178000	0.42148	5.537000	0.48860	0.676000	0.76740	0.111000	0.23011	0.994000	0.32194	0.013000	0.09966	0.081:0.0:0.919:0.0	13.096	0.58605	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	1693.98	37	chr21	30166019	.	G	C	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.108e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.099e+00;SOR=0.699	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1708,0,2087	20	0	1	0
chr21	30396550	30396550	G	A	exonic	KRTAP13-1	.	nonsynonymous SNV	KRTAP13-1:NM_181599:exon1:c.G464A:p.R155K,	.	.	428	1093	1	0	0	1	0.000457247	.	.	2308722	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.394	B	0.246	B	0.006	N	1.000	N	2.045	M	4.12	T	-0.977	T	0.011	T	0.223	3.145	16.52	1.68	0.377	1.766	3.731	0.073	0.00546116733406	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187659142	5.472e-06	5.472e-06	4.084e-06	6.875e-06	3.478e-05	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	6.623e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.408	0.14633	T	0.394	0.34702	B	0.246	0.38861	B	0.006174	0.32222	N	0.140255	1	0.08975	N	2.84	0.82582	M	4.12	0.02891	T	-2.23	0.50012	N	0.144	0.14480	-0.9767	0.35749	T	0.011	0.03996	T	10	0.15071017	0.28500	T	0.005461	0.14045	T	0.073	0.21317	0.661	0.79894	0.455448229734	0.45171	0.03254468638713688	0.03202	0.254578666066	0.28029	0.284870564938	0.08181	T	0.011535	0.10280	T	-0.307746	0.07948	T	-0.582978	0.14280	T	0.416211903095245	0.29550	T	0.327867	0.06820	T	0.11658228	0.27496	0.11015078	0.26557	0.11658228	0.27496	0.11015078	0.26557	-6.588	0.50961	T	.	.	0.137	0.29860	B	.	.	2.536634	0.32808	19.15	0.97997836157970142	0.37453	0.08649	0.14548	N	AEFI	0.072235	0.14410	N	-0.516864032804262	0.21535	1.143559	-0.606778976197429	0.19317	1.035933	1.60589522992553E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.54	1.68	0.23219	1.101000	0.30650	3.285000	0.37261	0.676000	0.76740	0.002000	0.15269	0.696000	0.26205	0.969000	0.54022	0.1806:0.0:0.4812:0.3382	3.731	0.08020	210	0.91826	.	.	.	.	.	.	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	2672.98	37	chr21	30396550	.	G	A	2672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=925;ExcessHet=0.0000;FS=11.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=1.23;SOR=1.346	GT:AD:DP:GQ:PL	0/1:96,99:195:99:2687,0,2410	20	0	1	0
chr21	30746992	30746992	G	A	exonic	KRTAP21-2	.	stopgain	KRTAP21-2:NM_181617:exon1:c.C211T:p.R71X,	.	.	430	1086	4	2	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.850	N	1.000	N	.	.	.	.	.	.	.	.	.	2.104	12.99	-0.774	-0.395	-2.296	1.890	.	.	0.0022	0.000399361	0.0021	0.0004	8.679e-05	0.0001	0.0005	0.0029	0.0022	0.0028	0.0019405	300	154602	rs147814118	0.0024	0.0024	0.0024	0.0025	0.0028	0.0024	0.0023	0.0027	0.0026	0.0005	0.0006	0.0010	2.519e-05	0.0011	0.0021	0.0028	0.0017	0.0028	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0027	0.0025	0.0003	0	0.0014	0.0023	0.0002	0.0007	0	0.0030	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.850388	0.07054	N	1.109780	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0534382	0.43923	T	0.151279	0.80264	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.144893	0.62127	24.4	0.86188484580376112	0.16370	0.02799	0.07519	N	AEFGI	0.040107	0.05919	N	-0.361123416013194	0.26865	1.46955	-0.731949265597305	0.16168	0.8539533	7.58742871458166E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	-0.774	0.10437	-1.734000	0.01948	-20.000000	0.00162	-0.215000	0.08222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1795:0.3041:0.3701:0.1464	1.890	0.03049	528	0.73785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2317.98	33	chr21	30746992	.	G	A	2317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=864;ExcessHet=0.0000;FS=2.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.947;SOR=0.840	GT:AD:DP:GQ:PL	0/1:82,92:174:99:2332,0,1873	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	0/1:63,71:134:99:1745,0,1444	19	0	2	0
chr21	33550358	33550358	C	T	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.C1127T:p.S376L	ZTTK syndrome, Autosomal dominant	.	432	1089	1	0	0	1	0.000458926	.	.	1605314	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.593	P	0.025	N	1.000	N	0.695	N	2.66	T	-1.080	T	0.036	T	0.295	3.453	17.69	5.43	2.710	0.527	15.097	0.072	0.00709136015814	0.0002	0.000199681	9.899e-05	0.0002	0	0.0001	0	0.0001	0	0.0001	7.68e-05	2	26028	rs199778047	7.525e-05	7.524e-05	6.534e-05	8.526e-05	0.0010	6.382e-05	5.938e-05	0.0005	0.0003	0.0002	0.0002	0	2.519e-05	0	0.0010	5.845e-05	0.0001	0.0002	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0	0	8.82e-05	0	0	0.005	0.63226	D	0.08	0.54934	T	0.994	0.70673	D	0.389	0.50536	B	0.025322	0.26107	N	0.277107	1	0.81001	D	0.895	0.22405	L	2.66	0.14531	T	-1.93	0.55501	N	0.138	0.17691	-1.0804	0.07272	T	0.036	0.15596	T	10	0.059102684	0.07052	T	0.007091	0.18786	T	0.072	0.21020	.	.	0.171220215726	0.16700	0.18396613394154301	0.18315	0.163228410601	0.18421	0.469857811928	0.34660	T	0.03321	0.22818	T	-0.403499	0.02196	T	-0.515653	0.20737	T	0.0278797718535335	0.01671	T	0.907909	0.67446	D	0.1881237	0.40297	0.15939099	0.37176	0.1881237	0.40297	0.15939099	0.37175	-4.295	0.28107	T	0.2552095476572103	0.34509	0.088	0.13783	B	.;.;.	.;.;.	3.788433	0.54517	23.5	0.99855957807952944	0.93458	0.86050	0.45260	D	AEFDBHCI	0.164488	0.29088	N	0.309806107743427	0.56652	3.830132	0.387987092586735	0.60822	4.274429	0.999999999588909	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.43	5.43	0.79006	0.067000	0.14378	1.800000	0.28874	0.599000	0.40250	0.738000	0.29006	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	15.097	0.71912	870	0.31527	.;.;.	.	.	.	.	.	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	2056.98	34	chr21	33550358	.	C	T	2056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.177;DP=914;ExcessHet=0.0000;FS=9.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=1.11;SOR=0.298	GT:AD:DP:GQ:PL	0/1:86,85:171:99:2071,0,2089	20	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.991	D	0.635	P	0.000	D	0.999	D	2.015	M	1.75	T	-1.041	T	0.094	T	0.604	2.253	13.49	4.65	1.348	2.166	10.542	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2368	698.27	35	chr21	41918930	.	C	G	698.27	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.341e+00;DP=1542;ExcessHet=4.7172;FS=85.931;InbreedingCoeff=-0.3046;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.977;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,14:83:99:0|1:41918930_C_G:245,0,2678:41918930	10	0	9	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.018	B	0.000	N	0.966	N	1.01	L	1.63	T	-1.066	T	0.041	T	0.356	0.961	8.923	-3.89	-0.592	-2.108	7.143	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	690.28	68	chr21	41918931	.	C	G	690.28	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.016e+00;DP=1649;ExcessHet=4.7172;FS=94.625;InbreedingCoeff=-0.3048;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.977;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:99:0|1:41918930_C_G:242,0,2685:41918930	10	0	9	2
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.796	P	0.000	D	0.845	D	1.01	L	1.45	T	-0.894	T	0.124	T	0.464	3.123	16.44	5.53	2.607	4.539	14.966	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	693.88	38	chr21	41918933	.	C	G	693.88	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.962e+00;DP=1518;ExcessHet=4.7172;FS=87.197;InbreedingCoeff=-0.2683;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.980;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,14:83:99:0|1:41918930_C_G:245,0,2666:41918930	12	0	9	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.651	P	0.15	B	0.052	N	1.000	N	1.935	M	1.93	T	-1.030	T	0.042	T	0.298	-0.400	2.125	0.664	-0.152	0.376	4.864	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	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	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,14,0:82:99:0|1:41918930_C_G:248,0,2624,452,2665,3117:41918930	16	0	4	0
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.011	B	0.005	B	0.052	N	1.000	N	1.245	L	1.98	T	-0.968	T	0.029	T	0.147	-0.717	0.918	0.664	-0.152	0.376	4.864	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	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	0.119	560.61	38	chr21	41918935	.	C	G,T	560.61	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-3.839e+00;DP=1195;ExcessHet=1.1607;FS=104.834;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.65;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,14,0:82:99:0|1:41918930_C_G:248,0,2624,452,2665,3117:41918930	16	0	4	0
chr21	42126478	42126478	C	G	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon17:c.C3449G:p.T1150S	.	.	403	1118	0	1	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.998	D	0.000	D	0.930	D	1.8	L	-1.5	D	0.083	D	0.547	D	0.118	2.067	12.87	1.83	0.507	0.042	7.679	0.372	0.0967098506618	0.0002	0.000599042	0.0004	0.0001	0.0002	0	0	0.0001	0	0.002	0.000304	47	154602	rs373108386	0.0003	0.0003	0.0002	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	2.987e-05	0.0002	0	0	0	0	0.0002	0.0003	0.0020	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	0.0002	0	0	0	0	0.0002	0.0005	0.0031	0.098	0.37966	T	0.0	0.92824	D	0.711	0.90584	P	0.209	0.88582	B	0.000287	0.46274	D	0.000000	0.689075	0.36946	D	1.245	0.31408	L	-1.5	0.81318	D	-1.87	0.43717	N	0.296	0.33469	0.083	0.83868	D	0.547	0.83364	D	9	0.020843685	0.00487	T	0.09671	0.76649	D	0.372	0.69102	0.569	0.69167	0.778836685026	0.77680	0.48824487972970654	0.48744	0.409264224451	0.41739	0.306289672852	0.11347	T	0.137893	0.47108	T	-0.424286	0.01607	T	-0.395464	0.33913	T	0.0600461030232238	0.07176	T	0.514549	0.16760	T	0.07912637	0.18059	0.09166084	0.21561	0.07912637	0.18058	0.09166084	0.21561	-6.455	0.49938	T	.	.	0.111	0.32445	B	.;.;.;.	.;.;.;.	2.605999	0.33832	19.46	0.99218649558050642	0.55839	0.15246	0.18817	N	AEFDBCI	0.114450	0.22543	N	-0.261610395614585	0.30642	1.710509	-0.407404696665012	0.24779	1.358869	0.998933857028052	0.38009	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	3.74	1.83	0.24279	0.054000	0.14087	0.433000	0.18345	0.599000	0.40250	0.044000	0.21163	0.055000	0.21918	0.571000	0.30675	0.0:0.7433:0.165:0.0917	7.679	0.27672	981	0.03995	.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1702.98	33	chr21	42126478	.	C	G	1702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.761;DP=870;ExcessHet=0.0000;FS=2.039;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=-1.397e+00;SOR=0.882	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1717,0,1933	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	2/2:0,0,50:50:99:1997,1997,1997,166,166,0	5	1	7	3
chr21	44540129	44540129	C	T	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.G22A:p.V8I,	.	.	410	1091	21	0	0	21	0.00953246	.	.	363826	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.027	B	0.003	B	.	.	1.000	N	1.46	L	3.06	T	-0.947	T	0.009	T	0.061	-0.097	3.526	0.59	-0.129	-0.305	5.907	0.030	.	0.0073	0.00958466	0.0039	0.0179	0.0011	0.0013	0	0.0020	0.0011	0.0082	0.0037451	579	154602	rs11910525	0.0021	0.0021	0.0019	0.0022	0.0219	0.0020	0.0020	0.0206	0.0200	0.0219	0.0014	0.0041	0.0009	0.0005	0.0092	0.0010	0.0031	0.0076	0.0063	0.0063	0.0065	0.0060	0.0186	0.0059	0.0058	0.0175	0.0171	0.0186	0	0.0018	0.0037	0.0006	0.0008	0.0102	0.0012	0.0043	0.0083	0.388	0.10909	T	0.336	0.18232	T	0.027	0.19556	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	1.26	0.31868	L	3.06	0.08634	T	-0.65	0.18877	N	0.099	0.08088	-0.9474	0.41414	T	0.009	0.03271	T	9	0.004553348	0.00094	T	.	.	.	0.030	0.07022	.	.	0.168933306366	0.16529	0.025932248768890175	0.02544	0.152673835777	0.17223	0.251102715731	0.03885	T	0.002721	0.02115	T	-0.727611	0.00025	T	-0.802344	0.01844	T	0.000572520467392367	0.00005	T	0.244176	0.03564	T	0.022773886	0.00963	0.032454368	0.01983	0.022773886	0.00963	0.032454368	0.01983	-6.308	0.48785	T	.	.	0.081	0.08320	B	.	.	-0.189160	0.03147	0.508	0.83860037986485758	0.14961	0.11888	0.16925	N	AEFBI	0.050071	0.08715	N	-1.03471315158519	0.07890	0.3681103	-1.0256342080835	0.09223	0.4576485	1.20649791263521E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.71	0.59	0.16642	-0.867000	0.04349	-7.925000	0.01060	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.0:0.5141:0.3729:0.113	5.907	0.18246	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	5779.11	37	chr21	44540129	.	C	T	5779.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.47;DP=1205;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.29;SOR=0.667	GT:AD:DP:GQ:PL	0/1:106,117:223:99:2765,0,2283	19	0	2	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|1:0,116,0:116:99:1|1:44558616_T_G:5141,349,0,5141,349,5141:44558616	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|1:0,114,0:114:99:1|1:44558616_T_G:5068,343,0,5068,343,5068:44558616	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	0/2:223,0,154:377:99:5577,6279,15616,0,9175,8785	3	1	0	1
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	0/2:30,0,16,0:48:99:658,592,1802,0,1260,1203,592,1802,1260,1802	10	0	3	0
chr21	46412027	46412027	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.C5600T:p.S1867F	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	208755	not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II|not_specified	MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.62	P	0.371	B	.	.	1.000	N	0	N	4.72	T	-0.879	T	0.002	T	0.019	1.469	10.86	-2.84	-0.303	-0.308	7.738	0.043	.	0.0059	0.00399361	0.0017	0.0202	0.0014	0	0	0	0	0.0001	0.001533	237	154602	rs140398533	0.0006	0.0006	0.0007	0.0005	0.0201	0.0005	0.0005	0.0188	0.0183	0.0201	0.0012	0	0	0	0.0006	4.497e-06	0.0012	3.481e-05	0.0053	0.0053	0.0057	0.0050	0.0187	0.0050	0.0049	0.0176	0.0172	0.0187	0	0.0016	0	0	0	0	1.47e-05	0.0033	0	0.037	0.43085	D	0.051	0.47828	T	0.42	0.35330	B	0.096	0.30313	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	4.72	0.01636	T	-1.61	0.38734	N	0.235	0.26475	-0.8795	0.49801	T	0.002	0.00707	T	9	0.003622055	0.00066	T	.	.	.	0.043	0.11576	.	.	0.427940940899	0.42412	0.0907249108346175	0.09005	0.0934908158167	0.10561	0.316571772099	0.12902	T	0.036417	0.24096	T	-0.718699	0.00028	T	-0.788882	0.02195	T	0.0208180368468936	0.00782	T	0.389061	0.09624	T	0.051157154	0.09354	0.06188648	0.12020	0.051157154	0.09353	0.06188648	0.12020	-5.588	0.42683	T	.	.	0.153	0.33846	B	.	.	0.938768	0.13145	9.645	0.96583229216017497	0.30340	0.01461	0.04883	N	AEFDBI	0.019658	0.00703	N	-0.960679641919266	0.09454	0.4475166	-1.08920657943886	0.07912	0.3867889	0.849866535718319	0.25024	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	3.73	-2.84	0.05408	-0.040000	0.12056	-2.334000	0.03886	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2711:0.2123:0.5166:0.0	7.738	0.27992	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	857.98	36	chr21	46412027	.	C	T	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=794;ExcessHet=0.0000;FS=0.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=1.88;SOR=0.803	GT:AD:DP:GQ:PL	0/1:27,37:64:99:872,0,589	20	0	1	0
chr22	19971245	19971245	C	T	exonic	ARVCF	.	nonsynonymous SNV	ARVCF:NM_001670:exon19:c.G2872A:p.V958I,	.	.	1	1515	6	0	0	6	0.00197628	.	.	1326445	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.982	D	0.355	B	0.455	U	0.999	D	1.525	L	-0.48	T	-0.643	T	0.293	T	0.217	4.523	24.4	4.07	2.288	3.273	13.656	0.157	0.144733837778	0.0005	.	0.0005	0.0003	0	0	0	0.0002	0	0.0009	0.0001035	16	154602	rs72554700	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	9.464e-05	0.0007	0.0007	6.262e-05	0	0	0	0	0.0011	6.94e-05	8.596e-05	0.0009	9.844e-05	9.841e-05	0.0001	9.394e-05	0.0002	6e-05	4.874e-05	9.048e-05	7.012e-05	2.405e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.011	0.55530	D	0.129	0.35840	T	0.982	0.60036	D	0.355	0.42984	B	0.454665	0.04835	U	1.580110	0.999415	0.46970	D	1.65	0.42232	L	-0.53	0.70833	T	-0.18	0.10136	N	0.496	0.57006	-0.6428	0.63026	T	0.293	0.66470	T	9	0.13378367	0.25462	T	0.144734	0.82697	D	0.157	0.40909	.	.	0.772867385776	0.77077	0.11831751945771429	0.11758	0.505120653488	0.48769	0.570902884007	0.48805	T	0.009975	0.09046	T	-0.348929	0.04795	T	-0.32443	0.42088	T	0.132832181218502	0.15641	T	0.975502	0.92224	D	0.13635507	0.31613	0.094390154	0.22339	0.13635507	0.31613	0.094390154	0.22338	-5.957	0.45943	T	.	.	0.12	0.32541	B	.;.;.;.	.;.;.;.	4.225391	0.63950	24.6	0.99795101223611105	0.88017	0.94199	0.60414	D	AEFDBHCI	0.349002	0.44294	N	0.274791452405319	0.54873	3.652094	0.298029859051852	0.55424	3.705471	0.999999999959618	0.74766	0.631981	0.41245	0	0.550933	0.16991	0	0.779548	0.98927	0	0.636168	0.56350	0	.	.	4.07	4.07	0.46726	5.381000	0.65959	7.483000	0.59280	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.656	0.61812	739	0.53257	.;.;.;.	.	.	.	.	.	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	1205.98	40	chr22	19971245	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=927;ExcessHet=0.0000;FS=1.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.27;SOR=0.885	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1220,0,1355	20	0	1	0
chr22	19978044	19978044	G	A	exonic	ARVCF	.	nonsynonymous SNV	ARVCF:NM_001670:exon8:c.C1612T:p.R538W,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.989	D	0.000	D	1.000	D	2.435	M	-1.21	T	0.129	D	0.578	D	0.744	4.365	23.0	4.03	2.541	1.363	9.929	0.551	0.142453970924	.	0.000199681	8.493e-06	9.876e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs560236817	2.811e-05	3.078e-05	2.864e-05	2.757e-05	0.0002	2.091e-05	1.882e-05	2.542e-05	2.226e-05	0	0	0	0	0	0.0002	3.42e-05	3.318e-05	0	1.97e-05	1.968e-05	2.57e-05	1.343e-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	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.7	0.79018	M	-1.21	0.78645	T	-5.88	0.88699	D	0.836	0.86618	0.129	0.84686	D	0.578	0.84773	D	9	0.830757	0.82239	D	0.142454	0.82483	D	0.551	0.81427	0.474	0.55020	0.961431950199	0.96101	0.6904431472068775	0.68984	0.54274777284	0.51373	0.809517085552	0.83418	D	0.427629	0.77704	T	0.0874991	0.62906	D	0.0700568	0.74915	D	0.994939923286438	0.86546	D	0.989945	0.96848	D	0.7440255	0.80523	0.57720095	0.75502	0.7440255	0.80525	0.57720095	0.75503	-13.414	0.90997	D	.	.	0.274	0.50736	B	.;.;.;.	.;.;.;.	5.180291	0.86860	29.0	0.9992309039060131	0.98917	0.65501	0.32759	D	AEFDGBHCI	0.794237	0.72200	D	0.481060551880264	0.65986	4.89187	0.386844952028998	0.60751	4.266508	0.999999997610801	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.03	4.03	0.46115	1.771000	0.38172	3.397000	0.38105	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.6632:0.3368	9.929	0.40681	736	0.53558	.;.;.;.	.	.	.	.	.	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	828.98	34	chr22	19978044	.	G	A	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.21;ReadPosRankSum=-1.204e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:60,41:101:99:843,0,1379	20	0	1	0
chr22	20566529	20566529	-	CAG	exonic	MED15	.	nonframeshift insertion	MED15:NM_001293236:exon6:c.540_541insCAG:p.Q191_A192insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4877.26	33	chr22	20566526	.	ACAG	ACAGCAG,A	4877.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-6.180e-01;DP=1022;ExcessHet=1.7912;FS=8.693;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.950e-01;SOR=0.415	GT:AD:DP:GQ:PL	0/1:33,31,0:64:99:1104,0,1179,1204,1272,2476	15	0	5	0
chr22	23064102	23064102	A	C	exonic	RSPH14	.	nonsynonymous SNV	RSPH14:NM_014433:exon5:c.T453G:p.I151M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.894	P	0.437	B	0.074	N	1.000	D	1.545	L	0.58	T	-0.935	T	0.110	T	0.664	1.002	9.091	-4.8	-0.293	-0.087	5.558	0.194	0.0164377335648	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771063525	6.84e-06	6.84e-06	6.806e-06	6.875e-06	8.993e-06	3.46e-06	2.52e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0	0	6.574e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.079	0.33753	T	0.003	0.76473	D	0.894	0.49185	P	0.437	0.45591	B	0.074229	0.21297	N	0.486343	0.999111	0.21609	N	.	.	.	0.58	0.54149	T	-1.82	0.42763	N	0.715	0.71765	-0.9347	0.43439	T	0.110	0.39604	T	10	0.65090376	0.69597	D	0.016438	0.37697	T	0.194	0.47447	0.424	0.46857	0.425028116352	0.42120	0.5302599891434673	0.52949	0.116427427619	0.13130	0.507088184357	0.39815	T	0.059642	0.31171	T	-0.00704144	0.50679	T	-0.247891	0.50025	T	0.231874987483025	0.22040	T	0.511749	0.16382	T	0.09900927	0.23360	0.113201596	0.27318	0.09900927	0.23360	0.113201596	0.27317	-5.882	0.45281	T	.	.	0.253	0.48797	B	.	.	1.757592	0.22356	15.59	0.95006149354772684	0.25972	0.25746	0.22790	N	AEFBI	0.092294	0.18687	N	-0.599684109683904	0.18954	0.9882542	-0.767199357852832	0.15301	0.8039939	0.98332538843277	0.30541	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.77	-4.8	0.02957	-0.066000	0.11556	0.196000	0.15798	-0.156000	0.11795	0.954000	0.33273	0.860000	0.27479	0.062000	0.16114	0.5842:0.0:0.2633:0.1525	5.558	0.16413	988	0.01987	.	.	.	.	.	.	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	969.98	33	chr22	23064102	.	A	C	969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=768;ExcessHet=0.0000;FS=4.671;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-8.820e-01;SOR=1.288	GT:AD:DP:GQ:PL	0/1:46,35:81:99:984,0,1245	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	0/1:74,13:87:99:323,0,3052	5	0	16	0
chr22	26027121	26027121	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7150T:p.R2384W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	423	1093	6	0	0	6	0.00273723	.	.	363966	MYO18B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.412	B	0.043	B	0.025	N	0.994	N	1.52	L	-2.49	D	-0.610	T	0.428	T	0.301	0.876	8.554	1.19	0.148	0.608	2.818	0.140	0.0948698414008	0.0038	0.00179712	0.0030	0.0007	0.0036	0	0.0005	0.0045	0.0033	0.0005	0.0030659	474	154602	rs192639023	0.0046	0.0046	0.0048	0.0044	0.0056	0.0045	0.0045	0.0055	0.0055	0.0014	0.0038	0.0005	2.519e-05	0.0002	0.0040	0.0056	0.0036	0.0004	0.0033	0.0033	0.0036	0.0031	0.0056	0.0031	0.0030	0.0047	0.0045	0.0013	0	0.0056	0	0	9.42e-05	0.0034	0.0051	0.0071	0.0002	0.165	0.23271	T	0.001	0.83351	D	0.289	0.32288	B	0.019	0.18783	B	0.025072	0.26152	N	0.250905	0.994179	0.23572	N	1.935	0.51832	L	-2.49	0.89293	D	-2.81	0.59389	D	0.272	0.30800	-0.6101	0.64399	T	0.428	0.77075	T	10	0.008432716	0.00191	T	0.09487	0.76328	D	0.140	0.37593	.	.	0.798183091467	0.79630	0.20097610193958687	0.20014	0.0907264345621	0.10238	0.487683176994	0.37118	T	0.06595	0.32819	T	-0.343433	0.05154	T	-0.263066	0.48516	T	0.0165819732106527	0.00419	T	0.829317	0.49436	T	0.076628	0.17341	0.07048611	0.14982	0.08136513	0.18693	0.0733562	0.15930	-6.83	0.52782	T	.	.	0.102	0.27851	B	.;.;.	.;.;.	2.434043	0.31314	18.70	0.99144130941944963	0.53627	0.07476	0.13492	N	AEFBI	0.203082	0.32962	N	-0.785497481826736	0.13687	0.6760706	-0.81797770639486	0.14060	0.7327185	0.119954161726533	0.16856	0.538911	0.22237	0	0.588015	0.36545	0	0.607057	0.38367	0	0.564101	0.26826	0	.	.	4.59	1.19	0.20120	0.625000	0.24171	1.910000	0.29640	-0.223000	0.07921	0.371000	0.25932	0.929000	0.28499	0.412000	0.27050	0.3571:0.3817:0.0:0.2612	2.818	0.05128	905	0.23532	.;.;.	.	.	.	.	.	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	5243.98	390	chr22	26027121	.	C	T	5243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.21;DP=2244;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=0.630;SOR=0.666	GT:AD:DP:GQ:PL	0/1:227,203:430:99:5258,0,5522	20	0	1	0
chr22	31137869	31137869	G	A	exonic	PLA2G3	.	stopgain	PLA2G3:NM_015715:exon4:c.C907T:p.R303X,	.	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	4.510	24.2	-3.08	-0.509	-0.536	7.639	.	.	0.0015	0.000599042	0.0010	0.0002	0.0006	0	0.0003	0.0017	0	0.0002	0.0010349	160	154602	rs151265075	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0012	0	0.0001	0.0006	0.0012	0.0019	0.0011	0.0005	0.0015	0.0015	0.0015	0.0014	0.0029	0.0013	0.0012	0.0022	0.0020	0.0003	0.0186	0.0029	0	0	0.0005	0.0102	0.0020	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.001621	0.00807	N	3.027600	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00820349	0.52779	T	0.232223	0.84778	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.360298	0.89897	31	0.91992061223573707	0.21325	0.05239	0.11072	N	AEFDBI	0.060752	0.11567	N	-0.222696844564282	0.32204	1.81368	-0.633045105538064	0.18647	0.9970177	0.999426012814181	0.39630	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.24	-3.08	0.05022	-1.325000	0.02795	0.207000	0.15917	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3277:0.2785:0.3938	7.639	0.27452	624	0.65661	.	.	.	.	.	.	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	1107.98	102	chr22	31137869	.	G	A	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=1523;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.434;SOR=0.714	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1122,0,1423	20	0	1	0
chr22	31573151	31573151	C	T	exonic	SFI1	.	nonsynonymous SNV	SFI1:NM_001258326:exon7:c.C613T:p.R205W	.	.	435	1084	2	1	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.998	D	0.785	P	0.268	N	1.000	N	0	N	2.8	T	-1.019	T	0.053	T	0.305	0.403	6.186	-1.46	-0.170	-0.413	8.294	0.036	0.0121157784463	0.0014	0.000599042	0.0010	0.0001	0.0005	0	0.0003	0.0015	0	0.0002	0.0009379	145	154602	rs76914885	0.0015	0.0015	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0002	0.0011	0	0	0.0006	0.0007	0.0018	0.0011	0.0004	0.0015	0.0015	0.0016	0.0014	0.0029	0.0013	0.0012	0.0022	0.0020	0.0003	0.0187	0.0029	0	0	0.0005	0.0102	0.0020	0.0005	0.0004	0.176	0.25355	T	0.146	0.41074	T	0.002	0.73220	B	0.002	0.57495	B	0.267950	0.15184	N	0.656825	1	0.08975	N	0.855	0.21307	L	1.46	0.32238	T	-0.77	0.23590	N	0.27	0.30574	-1.0190	0.24041	T	0.053	0.22462	T	10	0.012117177	0.00262	T	0.012116	0.30406	T	0.036	0.09122	.	.	0.156986980423	0.15292	0.026659001341656805	0.02615	0.097300326521	0.10992	0.182795017958	0.00122	T	0.01028	0.09295	T	-0.528808	0.00390	T	-0.545603	0.17750	T	0.00512746303519867	0.00055	T	0.812919	0.48145	T	0.038506065	0.05144	0.039012667	0.03898	0.038506065	0.05143	0.039012667	0.03897	-6.365	0.52722	T	.	.	0.088	0.12465	B	.;.;.;.;.	.;.;.;.;.	0.330157	0.07040	3.605	0.72673217781507871	0.10055	0.01392	0.04728	N	AEFBI	0.059136	0.11145	N	-1.00442872852153	0.08511	0.3993545	-1.03357637661159	0.09051	0.4482657	1.13422059114013E-5	0.02871	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.87	-1.46	0.08338	-0.207000	0.09388	-1.197000	0.06052	-0.853000	0.02693	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1229:0.6725:0.0:0.2046	8.294	0.31134	195	0.92448	.;.;.;.;.	.	.	.	.	.	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	929.98	34	chr22	31573151	.	C	T	929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.068;DP=795;ExcessHet=0.0000;FS=0.804;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=-2.123e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:46,42:88:99:944,0,991	20	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.618	N	1.000	D	.	.	.	.	.	.	.	.	.	3.773	19.16	-2.28	-0.449	-1.035	3.413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	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	0.1905	3603.9	128	chr22	36265782	.	G	T	3603.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.811e+00;DP=3016;ExcessHet=3.5521;FS=129.024;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=2.90;ReadPosRankSum=0.599;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,35:141:99:0|1:36265782_G_T:707,0,3916:36265782	13	0	8	0
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.832	P	0.6	P	0.486	N	1.000	N	2	M	3.59	T	-0.987	T	0.028	T	0.143	1.827	12.07	0.676	0.477	1.048	7.454	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	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	2052.92	120	chr22	36265787	.	G	T	2052.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.138e+00;DP=2808;ExcessHet=0.6776;FS=120.485;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=0.964;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,33:142:99:0|1:36265782_G_T:669,0,3999:36265782	17	0	4	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C,	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.839	P	0.211	B	0.000	D	1.000	D	2.625	M	-2.36	D	0.426	D	0.660	D	0.853	4.564	24.7	5.1	2.538	9.869	18.547	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor 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	0.1429	1924.07	73	chr22	36316560	.	G	C	1924.07	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.731e+00;DP=1544;ExcessHet=1.7912;FS=261.121;InbreedingCoeff=-0.1672;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.93;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,23:90:99:0|1:36316559_G_C:621,0,2718:36316559	15	0	6	0
chr22	40418697	40418697	A	G	exonic	MRTFA	.	nonsynonymous SNV	MRTFA:NM_001282660:exon9:c.T1741C:p.F581L	.	.	385	1134	2	1	0	4	0.00176056	.	.	999481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.75	T	0.005	B	0.006	B	0.027	N	0.941	N	1.87	L	1.09	T	-1.011	T	0.083	T	0.157	-0.018	3.920	2.71	0.891	1.506	8.409	0.047	0.00721807972224	.	.	3.619e-05	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs753110493	5.727e-05	5.069e-05	4.07e-05	7.478e-05	0.0011	4.574e-05	4.157e-05	0.0004	0.0002	0	0	0	0	0	0.0011	2.983e-05	0.0002	0.0004	4.412e-05	4.211e-05	3.232e-05	5.831e-05	0.0012	1.69e-05	1.037e-05	0.0004	0.0002	0	0	0	0	0	0	0	1.652e-05	0	0.0012	1.0	0.02201	T	1.0	0.01155	T	0.0	0.12996	B	0.001	0.12133	B	0.027186	0.25796	N	0.436236	0.997023	0.23995	N	.	.	.	1.08	0.39586	T	-0.05	0.08033	N	0.201	0.26837	-1.0107	0.26698	T	0.083	0.32527	T	10	0.027443796	0.00890	T	0.007218	0.19143	T	0.047	0.12962	0.101	0.01536	0.20808081866	0.20439	.	.	0.0536714916649	0.05925	0.681236505508	0.64445	T	0.034493	0.23342	T	-0.412966	0.01900	T	-0.524997	0.19789	T	0.0244477456327932	0.01201	T	0.723528	0.37862	T	0.07610827	0.17190	0.0715324	0.15330	0.07610827	0.17190	0.0715324	0.15329	-2.091	0.03545	T	.	.	0.591	0.69645	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.579593	0.20215	14.64	0.77888400609066721	0.12065	0.71797	0.35169	D	AEFDBCI	0.095248	0.19246	N	-0.444102182743935	0.23940	1.289184	-0.33474392114768	0.26985	1.494278	0.99910902216894	0.38452	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.89	2.71	0.31092	1.181000	0.31626	2.010000	0.30161	0.688000	0.82842	0.074000	0.22182	1.000000	0.68203	0.936000	0.47498	0.841:0.0:0.159:0.0	8.409	0.31797	545	0.72614	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	205.98	37	chr22	40418697	.	A	G	205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.119;DP=693;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.850;SOR=0.446	GT:AD:DP:GQ:PL	0/1:12,8:20:99:220,0,342	20	0	1	0
chr22	41436985	41436985	C	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.G361A:p.G121S,	.	.	.	.	.	.	.	.	.	.	.	2304247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.374	B	0.033	B	0.000	D	0.720	D	1.2	L	0.85	T	-0.940	T	0.083	T	0.095	2.413	14.03	6.07	2.884	0.929	7.985	0.087	0.00473956831219	0.0005	0.000399361	7.416e-05	0.0008	0	0	0	1.499e-05	0	0	7.12e-05	11	154602	rs150938078	3.078e-05	3.078e-05	3.403e-05	2.75e-05	0.0008	2.347e-05	2.095e-05	0.0005	0.0005	0.0008	0	7.652e-05	0	0	0	1.079e-05	6.623e-05	1.159e-05	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0002	0	0	0	0	1.471e-05	0.0005	0	0.068	0.35726	T	0.151	0.32355	T	0.374	0.34192	B	0.033	0.22329	B	0.000124	0.49741	D	0.133325	0.720145	0.33609	D	1.175	0.29870	L	0.85	0.47130	T	-0.89	0.24026	N	0.06	0.03175	-0.9401	0.42600	T	0.083	0.32642	T	10	0.014762253	0.00310	T	0.00474	0.11816	T	0.087	0.25287	.	.	0.228066490088	0.22430	0.3719334557174347	0.37107	0.317085791368	0.33956	0.336588531733	0.15927	T	0.151213	0.49105	T	-0.508969	0.00509	T	-0.586907	0.13935	T	0.0405119319865001	0.03783	T	0.756224	0.37950	T	0.06392937	0.13513	0.059879355	0.11311	0.06392937	0.13512	0.059879355	0.11311	-2.455	0.05481	T	.	.	0.061	0.01179	B	.	.	2.357692	0.30237	18.37	0.99356073177641158	0.60779	0.32329	0.24558	N	AEFDBCI	0.184892	0.31222	N	-0.300805989616451	0.29119	1.611952	-0.236422012299518	0.30242	1.701062	0.999995624422077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	1.179000	0.31602	2.198000	0.31263	0.599000	0.40250	0.005000	0.17040	0.106000	0.22736	0.943000	0.48514	0.0:0.8162:0.0:0.1838	7.985	0.29368	180	0.92993	.	.	.	.	.	.	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	2205.98	41	chr22	41436985	.	C	T	2205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.300e-02;DP=1050;ExcessHet=0.0000;FS=0.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-1.688e+00;SOR=0.744	GT:AD:DP:GQ:PL	0/1:100,91:191:99:2220,0,2563	20	0	1	0
chr22	41781685	41781685	C	T	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon24:c.C2927T:p.A976V,	.	.	.	.	.	.	.	.	.	0.2231	0.506	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.859	P	0.41	B	0.000	D	1.000	D	1.845	L	-0.6	T	-0.502	T	0.286	T	0.509	2.507	14.34	4.9	1.507	0.936	9.051	0.248	0.0370812736698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.008	0.67890	D	0.859	0.47319	P	0.41	0.44785	B	0.000002	0.62929	D	0.058541	1	0.81001	D	1.585	0.39878	L	-0.6	0.71662	T	-1.62	0.38924	N	0.258	0.29197	-0.5020	0.68578	T	0.286	0.65763	T	10	0.26074597	0.43526	T	0.037081	0.57392	D	0.248	0.55615	0.294	0.25720	0.727849289409	0.72543	0.2935103339082006	0.29264	0.50985493563	0.49121	0.394629538059	0.24320	T	0.158017	0.50086	T	-0.0129081	0.49858	T	-0.256318	0.49191	T	0.943492531776428	0.61871	D	0.747125	0.36767	T	0.11829702	0.27873	0.13853893	0.33082	0.11829702	0.27873	0.13853893	0.33082	-0.757	0.00767	T	.	.	0.126	0.26638	B	.	.	3.079600	0.41422	21.4	0.9911077568147737	0.52725	0.53414	0.29366	D	AEFGBHCI	0.149543	0.27365	N	0.145352781985368	0.48592	3.069593	0.204335868312841	0.50088	3.204528	0.99999847813073	0.74766	0.559995	0.30671	0	0.52208	0.09955	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.91	4.9	0.63643	1.133000	0.31043	3.954000	0.40696	0.599000	0.40250	0.856000	0.30544	0.999000	0.35428	0.808000	0.38083	0.0:0.8347:0.0:0.1653	9.051	0.35539	122	0.95130	.	.	.	.	.	.	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	625.98	34	chr22	41781685	.	C	T	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.050e-01;DP=733;ExcessHet=0.0000;FS=2.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.999;SOR=1.392	GT:AD:DP:GQ:PL	0/1:18,23:41:99:640,0,457	20	0	1	0
chr22	42128181	42128181	A	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.T683A:p.M228K	.	.	2	1515	4	1	0	6	0.00197628	.	.	817952	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.01	D	0.002	B	0.035	B	0.108	N	1.000	D	0.665	N	-0.11	T	-0.875	T	0.146	T	0.764	2.552	14.49	3.28	1.741	3.377	10.398	0.321	.	.	0.00419329	0.0023	0.0003	0.0182	0	0	0	0	0.0051	0.0017464	270	154602	rs1135828	0.0010	0.0012	0.0008	0.0012	0.0114	0.0009	0.0009	0.0108	0.0105	0	0.0086	0	0.0002	0	0	1.083e-05	0.0011	0.0114	0.0010	0.0010	0.0006	0.0013	0.0161	0.0008	0.0008	0.0131	0.0120	0.0001	0	0.0040	0	0	0	0	1.503e-05	0.0005	0.0161	0.008	0.58626	D	0.021	0.60972	D	.	.	.	.	.	.	0.107920	0.19550	N	0.495958	0.999682	0.48270	D	1.74	0.45129	L	-0.11	0.64445	T	-4.41	0.77965	D	0.413	0.53181	-0.8752	0.50135	T	0.146	0.46967	T	10	0.010121793	0.00226	T	.	.	.	0.321	0.64318	.	.	0.588834294336	0.58558	0.7882639691376796	0.78778	0.183163157925	0.20599	0.341386795044	0.16645	T	0.025134	0.38968	T	-0.204384	0.20176	T	-0.0569654	0.66543	D	0.0681880821534846	0.08396	T	0.637336	0.25103	T	0.36416996	0.58151	0.341908	0.59924	0.36416996	0.58152	0.341908	0.59923	-6.928	0.53507	T	.	.	0.295	0.52614	B	.;.;.;.;.	.;.;.;.;.	3.172921	0.43041	21.7	0.95143471143796843	0.26268	0.55735	0.29939	D	AEFDI	0.650506	0.62459	D	-0.421261016782285	0.24725	1.337097	-0.320743469659828	0.27429	1.521972	0.0255723852043059	0.13657	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.4	3.28	0.36691	4.791000	0.62154	9.013000	0.78554	0.691000	0.84096	0.666000	0.28313	0.987000	0.30940	0.355000	0.25773	0.8373:0.1627:0.0:0.0	10.398	0.43398	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1143.98	37	chr22	42128181	.	A	T	1143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.12;DP=851;ExcessHet=0.0000;FS=4.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.33;MQRankSum=-8.947e+00;QD=12.17;ReadPosRankSum=-1.320e-01;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,33:94:99:0|1:42128181_A_T:1158,0,2431:42128181	20	0	1	0
chr22	42128185	42128185	C	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.G679A:p.E227K	.	.	2	1515	4	1	0	6	0.00197628	.	.	817953	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.26	T	0.118	B	0.309	B	0.000	D	1.000	D	1.405	L	-0.24	T	-0.733	T	0.252	T	0.744	2.946	15.82	2.0	0.919	0.856	12.683	0.329	.	.	0.00399361	0.0007	0	0	0	0	0	0	0.0051	0.0011526	30	26028	rs77913725	0.0007	0.0009	0.0005	0.0010	0.0115	0.0007	0.0007	0.0109	0.0107	0	2.265e-05	0	0.0002	0	0	9.019e-06	0.0009	0.0115	0.0005	0.0005	0.0002	0.0008	0.0152	0.0004	0.0004	0.0124	0.0114	9.816e-05	0	0	0	0	0	0	1.478e-05	0.0005	0.0152	0.01	0.56456	D	0.141	0.33442	T	.	.	.	.	.	.	0.000330	0.45700	D	0.148252	0.999976	0.53665	D	1.35	0.33515	L	-0.24	0.66834	T	-3.74	0.71042	D	0.426	0.50868	-0.7333	0.58796	T	0.252	0.62166	T	10	0.0071584284	0.00163	T	.	.	.	0.329	0.65126	0.598	0.72862	0.648949747153	0.64603	0.7808645444419238	0.78037	0.140136811154	0.15799	0.427451491356	0.28861	T	0.018513	0.37672	T	-0.121261	0.32916	T	-0.118472	0.61929	T	0.131292493978093	0.15501	T	0.791621	0.47040	T	0.4159809	0.61824	0.3414125	0.59881	0.4159809	0.61824	0.3414125	0.59880	-9.076	0.68184	D	.	.	0.273	0.52881	B	.;.;.;.;.	.;.;.;.;.	2.420013	0.31114	18.64	0.9975775541097498	0.84772	0.44473	0.27326	N	AEFDI	0.482620	0.52341	N	-0.473328352916868	0.22956	1.229463	-0.444953648382078	0.23692	1.293378	8.61634359655264E-4	0.07931	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.4	2.0	0.25495	0.365000	0.20076	-0.008000	0.13101	0.549000	0.26987	0.023000	0.19925	0.000000	0.08366	0.295000	0.24381	0.0:0.6826:0.3174:0.0	12.683	0.56296	106	0.95650	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1162.98	37	chr22	42128185	.	C	T	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.64;DP=855;ExcessHet=0.0000;FS=2.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.82;MQRankSum=-8.929e+00;QD=12.11;ReadPosRankSum=-6.340e-01;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,34:96:99:0|1:42128181_A_T:1177,0,2449:42128181	20	0	1	0
chr22	42516082	42516082	G	T	exonic	RRP7A	.	nonsynonymous SNV	RRP7A:NM_015703:exon3:c.C271A:p.Q91K,	.	.	418	1103	1	0	0	1	0.000453104	.	.	3316697	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.02	B	0.007	B	0.031	N	0.716	N	1.83	L	2.35	T	-1.057	T	0.036	T	0.263	-0.793	0.695	2.9	0.954	2.203	7.278	0.027	0.00417023265129	7.7e-05	.	7.467e-05	0	0	0	0	1.512e-05	0	0.0005	6.47e-05	10	154602	rs367706570	6.501e-05	6.498e-05	4.902e-05	8.116e-05	0.0007	5.43e-05	5.043e-05	0.0005	0.0005	0	2.239e-05	0	0	0	0.0003	2.519e-05	0.0001	0.0007	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.399	0.10517	T	0.462	0.12526	T	0.02	0.18235	B	0.007	0.12992	B	0.031091	0.25217	N	0.438172	0.716	0.29971	N	1.865	0.49290	L	2.35	0.16217	T	-1.62	0.38924	N	0.328	0.36884	-1.0569	0.12543	T	0.036	0.15465	T	10	0.037659794	0.02134	T	0.00417	0.10026	T	0.027	0.05988	.	.	0.247872288689	0.24386	0.3074601714829804	0.30659	0.0353957791626	0.03735	0.408020079136	0.26183	T	0.00501	0.04439	T	-0.480879	0.00731	T	-0.556262	0.16731	T	0.0300239926198278	0.01993	T	0.533547	0.17787	T	0.049451713	0.08783	0.055688433	0.09815	0.049451713	0.08782	0.055688433	0.09814	-8.598	0.65076	D	.	.	0.079	0.07224	B	.	.	1.918245	0.24361	16.37	0.69454785331189883	0.08978	0.71251	0.34933	D	AEFDGBHCI	0.198409	0.32527	N	-0.628921397334156	0.18080	0.9357572	-0.583683530332434	0.19918	1.07084	0.998531037553004	0.37148	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	2.9	0.32809	2.294000	0.43227	8.318000	0.76958	-0.219000	0.08017	0.993000	0.37899	1.000000	0.68203	0.012000	0.09680	0.1379:0.0:0.7103:0.1519	7.278	0.25472	216	0.91608	Rrp7A, RNA recognition motif	.	.	.	.	.	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	645.98	33	chr22	42516082	.	G	T	645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=903;ExcessHet=0.0000;FS=2.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.66;ReadPosRankSum=-1.494e+00;SOR=0.442	GT:AD:DP:GQ:PL	0/1:63,34:97:99:660,0,1503	20	0	1	0
chr22	45432322	45432322	C	A	exonic	RIBC2	.	nonsynonymous SNV	RIBC2:NM_015653:exon7:c.C1109A:p.T370K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.981	D	0.002	N	0.991	N	.	.	1.81	T	-0.918	T	0.165	T	0.761	2.767	15.21	5.64	2.657	2.890	16.618	0.265	0.0147704623462	.	.	2.484e-05	0	0	0	0	1.506e-05	0	0.0001	1.94e-05	3	154602	rs202198762	7.594e-06	1.231e-05	8.25e-06	6.932e-06	9.406e-05	4.08e-06	2.98e-06	4.635e-05	3.413e-05	0	0	0	0	0	0	1.816e-06	1.668e-05	9.406e-05	1.32e-05	1.316e-05	0	2.707e-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	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.001837	0.37892	N	0.222293	0.990822	0.24119	N	.	.	.	.	.	.	.	.	.	0.654	0.66443	-0.9180	0.45824	T	0.165	0.50307	T	9	0.70628446	0.72758	D	0.01477	0.35101	T	.	.	.	.	0.588411211809	0.58516	0.45462708548201636	0.45380	.	.	0.417950719595	0.27556	T	0.179507	0.53052	T	0.00500181	0.52343	T	0.00607683	0.70729	D	0.949195981025696	0.63060	D	0.656534	0.26618	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.36455	B	.	.	3.727723	0.53306	23.3	0.99104014940173646	0.52546	0.41056	0.26573	N	AEFDBHI	0.221925	0.34649	N	0.296781752320508	0.55986	3.762729	0.192675690980069	0.49443	3.147584	0.999999071042025	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	3.327000	0.51757	4.544000	0.43776	0.580000	0.29708	0.814000	0.29906	0.409000	0.24749	0.212000	0.22240	0.0:1.0:0.0:0.0	16.618	0.84775	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	1486.98	40	chr22	45432322	.	C	A	1486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=896;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.703;SOR=0.723	GT:AD:DP:GQ:PL	0/1:70,65:135:99:1501,0,1456	20	0	1	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M,	.	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.0	B	.	.	1.000	N	0	N	1.04	T	-1.051	T	0.039	T	0.072	1.492	10.94	-5.51	-1.491	-1.306	0.949	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	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	389.69	9	chr22	46262935	.	C	T	389.69	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=421;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0772;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=0.339;SOR=0.776	GT:AD:DP:GQ:PL	0/1:8,8:16:99:229,0,227	18	0	3	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|1:32,39,0:71:99:0|1:49922276_G_T:1385,0,1125,1482,1241,2723:49922276	7	1	7	0
chr22	50261196	50261196	G	A	exonic	MAPK12	.	nonsynonymous SNV	MAPK12:NM_001303252:exon2:c.C226T:p.R76C	.	.	417	1089	16	0	0	16	0.00729262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.004	U	1.000	D	1.225	L	-0.24	T	-0.345	T	0.351	T	0.649	4.487	24.0	3.9	2.017	1.295	11.029	0.407	0.858093496087	0.0008	0.000599042	0.0021	0.0007	0.0020	0	0.0006	0.0030	0.0044	0.0010	0.0010931	169	154602	rs138533200	0.0009	0.0009	0.0009	0.0009	0.0248	0.0008	0.0008	0.0215	0.0202	0.0008	0.0012	0.0041	2.643e-05	1.973e-05	0.0248	0.0007	0.0023	0.0009	0.0010	0.0010	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0003	0	0.0023	0.0043	0	0	0.0204	0.0010	0.0019	0.0010	0.012	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.004312	0.33881	U	0.000000	1	0.81001	D	1.815	0.47718	L	-0.24	0.66834	T	-6.23	0.90530	D	0.735	0.73555	-0.3450	0.73699	T	0.351	0.71525	T	10	0.066975355	0.09263	T	0.858093	0.98909	D	0.407	0.71946	.	.	0.823601361403	0.82193	0.5844710984958643	0.58377	0.695200239805	0.60803	0.902423501015	0.96704	D	0.363801	0.72949	T	-0.193926	0.21683	T	-0.0918716	0.64021	T	0.0904900214451298	0.11276	T	0.760924	0.43272	T	0.7570611	0.81280	0.65741473	0.79937	0.7570611	0.81282	0.65741473	0.79938	-13.563	0.92037	D	.	.	0.172	0.53785	B	.;.;.	.;.;.	6.002999	0.94312	34	0.99895537334446627	0.96895	0.89178	0.49488	D	ALL	0.539546	0.55648	D	0.422418793194856	0.62657	4.485218	0.381455693999127	0.60420	4.229597	0.999999999998644	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.9	3.9	0.44240	2.949000	0.48766	8.134000	0.76663	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8138:0.1862	11.029	0.46977	624	0.65661	.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1691.11	34	chr22	50261196	.	G	A	1691.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.761;DP=821;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.117;SOR=0.673	GT:AD:DP:GQ:PL	0/1:38,38:76:99:864,0,832	19	0	2	0
chr22	50505077	50505077	C	T	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon9:c.G1159A:p.A387T	.	.	408	1107	5	2	0	9	0.00404858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.828	P	0.394	B	0.012	N	1.000	D	2.01	M	1.81	T	-0.809	T	0.191	T	0.317	1.848	12.14	2.68	0.397	0.457	10.238	0.104	.	0.0074	0.00119808	0.0059	0.0006	0.0021	0	0.0048	0.0096	0.0034	0.0010	0.0060543	936	154602	rs9616787	0.0083	0.0083	0.0085	0.0081	0.0101	0.0082	0.0081	0.0100	0.0099	0.0012	0.0020	0.0019	0	0.0044	0.0033	0.0101	0.0060	0.0007	0.0057	0.0057	0.0063	0.0050	0.0096	0.0054	0.0052	0.0090	0.0087	0.0017	0.0110	0.0030	0.0023	0.0002	0.0063	0	0.0096	0.0033	0.0010	0.258	0.16683	T	0.415	0.15059	T	0.238	0.46021	B	0.257	0.44277	B	0.012128	0.29280	N	0.303175	0.902714	0.81001	D	2.325	0.66631	M	1.81	0.25182	T	-1.14	0.29323	N	0.268	0.32037	-0.8088	0.54623	T	0.191	0.54345	T	10	0.006005347	0.00135	T	.	.	.	0.104	0.29647	.	.	0.0138822411134	0.00435	0.5831844569749229	0.58247	.	.	0.346570730209	0.17416	T	0.030455	0.21583	T	-0.50462	0.00538	T	-0.484003	0.24022	T	0.00796680398669748	0.00094	T	0.631037	0.24617	T	0.024529928	0.01293	0.06107986	0.11737	0.024529928	0.01293	0.06107986	0.11737	-5.892	0.45520	T	.	.	0.076	0.06114	B	.;.	.;.	1.188012	0.15789	12.10	0.99005370156509487	0.50252	0.22938	0.21912	N	AEFBI	0.387503	0.46746	N	-0.45325823712363	0.23629	1.270275	-0.536581296772941	0.21163	1.143558	0.999900028257749	0.45458	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.85	2.68	0.30839	0.322000	0.19323	1.768000	0.28610	-0.256000	0.07045	0.001000	0.13787	1.000000	0.68203	0.202000	0.21954	0.3891:0.6109:0.0:0.0	10.238	0.42474	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2374.98	33	chr22	50505077	.	C	T	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.825e+00;DP=1135;ExcessHet=0.0000;FS=1.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.528;SOR=0.825	GT:AD:DP:GQ:PL	0/1:81,100:181:99:2389,0,2120	20	0	1	0
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	1/1:0,184,0,0:184:99:.:.:5468,552,0,5468,552,5468,5468,552,5468,5468	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	1/1:0,184,0,0:184:99:.:.:5468,552,0,5468,552,5468,5468,552,5468,5468	0	8	6	4
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	1/1:0,4,0:4:12:116,12,0,116,12,116	11	2	1	6
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|2:61,0,15:76:99:0|1:10469688_G_C:171,351,2564,0,2213,2169:10469688	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|2:61,0,15:76:99:0|1:10469688_G_C:171,351,2564,0,2213,2169:10469688	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|1:62,16:78:99:0|1:10469688_G_C:175,0,2173:10469688	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|1:60,16:76:99:0|1:10469688_G_C:181,0,2099:10469688	12	0	9	0
chrX	18213851	18213851	T	C	exonic	BEND2	.	nonsynonymous SNV	BEND2:NM_001184767:exon3:c.A299G:p.Q100R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.059	B	0.015	B	.	.	1.000	N	0.41	N	0.99	T	-1.005	T	0.044	T	0.074	-0.012	3.951	-1.12	-0.483	-0.404	.	0.012	0.00167615804731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.093e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	0.01963	T	0.433	0.13595	T	0.017	0.17573	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.99	0.41750	T	-0.57	0.18459	N	0.147	0.14905	-1.0050	0.28457	T	0.044	0.18865	T	8	0.05145091	0.05028	T	0.001676	0.02753	T	0.012	0.01476	0.237	0.16760	0.17948927462	0.17512	0.02640135905788277	0.02590	0.215990113852	0.24126	0.411068975925	0.26605	T	0.008252	0.07584	T	-0.514931	0.00471	T	-0.977439	0.00187	T	0.0515045999738713	0.05762	T	0.564644	0.19916	T	0.21111993	0.43428	0.1432403	0.34049	0.21111993	0.43428	0.1432403	0.34048	-3.863	0.22677	T	.	.	0.088	0.19879	B	.;.	.;.	-0.505508	0.01850	0.149	0.90786952929728337	0.20036	0.00106	0.00678	N	AEFBI	.	.	.	.	.	.	.	.	.	1.55525929034236E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	-1.12	0.09306	-0.408000	0.07232	-0.535000	0.08614	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	571	0.70397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	30.36	12	chrX	18213851	.	T	C	30.36	.	AC=2;AF=0.053;AN=38;DP=147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6797;MLEAC=1;MLEAF=0.026;MQ=60.00;QD=15.18;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	18	1	0	2
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	5/5:0,0,0,0,0,49,0:49:99:2134,2139,2145,2139,2145,2145,2139,2145,2145,2145,2139,2145,2145,2145,2145,142,147,147,147,147,0,2139,2145,2145,2145,2145,147,2145	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	5/5:0,0,0,0,0,49,0:49:99:2134,2139,2145,2139,2145,2145,2139,2145,2145,2145,2139,2145,2145,2145,2145,142,147,147,147,147,0,2139,2145,2145,2145,2145,147,2145	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	5/5:0,0,0,0,0,49,0:49:99:2134,2139,2145,2139,2145,2145,2139,2145,2145,2145,2139,2145,2145,2145,2145,142,147,147,147,147,0,2139,2145,2145,2145,2145,147,2145	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	5/5:0,0,0,0,0,49,0:49:99:2134,2139,2145,2139,2145,2145,2139,2145,2145,2145,2139,2145,2145,2145,2145,142,147,147,147,147,0,2139,2145,2145,2145,2145,147,2145	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	5/5:0,0,0,0,0,49,0:49:99:2134,2139,2145,2139,2145,2145,2139,2145,2145,2145,2139,2145,2145,2145,2145,142,147,147,147,147,0,2139,2145,2145,2145,2145,147,2145	8	0	1	0
chrX	48771080	48771080	A	G	exonic	GLOD5	.	nonsynonymous SNV	GLOD5:NM_001080489:exon3:c.A355G:p.K119E,	.	.	435	1086	1	0	0	1	0.000460193	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.001	B	0.002	B	0.000	D	0.993	D	0.98	L	.	.	-1.065	T	0.070	T	0.399	-0.094	3.539	0.811	-0.131	1.150	5.804	0.139	0.00426108428338	0.0048	0.00238411	0.0049	0.0011	0.0010	0	0.0026	0.0078	0.0019	0.0005	0.0044437	687	154602	rs182017964	0.0061	0.0059	0.0062	0.0058	0.0073	0.0059	0.0059	0.0071	0.0071	0.0009	0.0018	5.664e-05	0	0.0032	0.0003	0.0073	0.0040	0.0007	0.0043	0.0043	0.0047	0.0035	0.0074	0.0040	0.0039	0.0068	0.0065	0.0012	0	0.0029	0	0	0.0031	0	0.0074	0.0033	0.0004	0.684	0.04379	T	0.541	0.09725	T	.	.	.	.	.	.	0.000007	0.62929	D	0.142660	0.993454	0.41945	D	0.78	0.19475	N	.	.	.	-0.9	0.24244	N	0.073	0.04668	-1.0649	0.10572	T	0.070	0.28412	T	9	0.0077488422	0.00176	T	0.004261	0.10310	T	0.139	0.37390	.	.	0.45553875121	0.45177	0.6215110912049278	0.62084	0.0108971055782	0.01015	0.499345809221	0.38736	T	0.051994	0.29036	T	-0.449507	0.01137	T	-0.412912	0.31889	T	0.00544690852307509	0.00059	T	0.844016	0.52137	T	0.42303738	0.62293	0.16114582	0.37497	0.42303738	0.62294	0.16114582	0.37496	-7.783	0.59581	D	.	.	0.093	0.14155	B	.	.	1.930767	0.24519	16.43	0.9273021818950179	0.22230	0.69911	0.34376	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.9996284489638	0.41093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	0.811	0.17881	1.114000	0.30811	1.090000	0.23972	0.724000	0.85401	0.993000	0.37899	0.547000	0.25447	0.992000	0.67800	0.5945:0.3153:0.0902:0.0	5.804	0.17695	7	0.99271	Glyoxalase/fosfomycin resistance/dioxygenase domain|Vicinal oxygen chelate (VOC) 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	2114.08	34	chrX	48771080	.	A	G	2114.08	.	AC=2;AF=0.048;AN=42;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=28.57;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2142,222,0	20	1	0	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	1/1:64,662:726:99:19459,236,0	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	0/1:649,148:797:99:2054,0,17908	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	0/1:660,131:791:99:2390,0,20077	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	0/1:586,112:698:99:2018,0,18668	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	0/1:89,549:638:99:17088,0,616	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|1:408,67:475:99:0|1:55146247_G_C:1552,0,16685:55146247	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|1:398,65,0:463:99:0|1:55146247_G_C:1519,0,16368,2717,16564,19281:55146247	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	0/1:147,294:441:99:8563,0,5055	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|1:382,62:444:99:0|1:55146247_G_C:1453,0,15853:55146247	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|1:382,62,0:444:99:0|1:55146247_G_C:1453,0,15853,2603,16040,18643:55146247	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|1:382,62,0:444:99:0|1:55146247_G_C:1453,0,15853,2603,16040,18643:55146247	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	0/1:76,259:335:99:8181,0,2216	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	0/1:232,37:269:99:367,0,7411	5	0	15	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	6/6:1,0,0,0,0,0,22:23:33:.:.:950,953,988,953,988,988,953,988,988,988,953,988,988,988,988,953,988,988,988,988,988,33,69,69,69,69,69,0	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	6/6:1,0,0,0,0,0,22:23:33:.:.:950,953,988,953,988,988,953,988,988,988,953,988,988,988,988,953,988,988,988,988,988,33,69,69,69,69,69,0	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	6/6:1,0,0,0,0,0,22:23:33:.:.:950,953,988,953,988,988,953,988,988,988,953,988,988,988,988,953,988,988,988,988,988,33,69,69,69,69,69,0	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	6/6:1,0,0,0,0,0,22:23:33:.:.:950,953,988,953,988,988,953,988,988,988,953,988,988,988,988,953,988,988,988,988,988,33,69,69,69,69,69,0	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	6/6:1,0,0,0,0,0,22:23:33:.:.:950,953,988,953,988,988,953,988,988,988,953,988,988,988,988,953,988,988,988,988,988,33,69,69,69,69,69,0	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	6/6:1,0,0,0,0,0,22:23:33:.:.:950,953,988,953,988,988,953,988,988,988,953,988,988,988,988,953,988,988,988,988,988,33,69,69,69,69,69,0	11	3	1	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,26:222:99:0|1:74591902_T_A:502,0,8121:74591902	8	0	13	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	.	10	1315	197	0	0	197	0.0696852	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.017	N	1.000	N	0.895	L	-1.6	D	-0.872	T	0.310	T	0.192	-1.096	0.146	4.1	1.077	-0.129	7.602	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1974.03	34	chrX	74591957	.	C	T	1974.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.777e+00;DP=2767;ExcessHet=1.7912;FS=2.136;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=59.08;MQRankSum=-1.348e+01;QD=1.28;ReadPosRankSum=-2.514e+00;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,24:250:99:0|1:74591902_T_A:327,0,9414:74591902	15	0	6	0
chrX	107602107	107602107	C	G	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon16:c.C4167G:p.S1389R,	.	.	429	1080	11	2	0	15	0.00689655	.	.	1676622	Low-frequency_hearing_loss|Low-frequency_sensorineural_hearing_impairment	Human_Phenotype_Ontology:HP:0008542,MedGen:C0271514|Human_Phenotype_Ontology:HP:0008573,MedGen:C3810445	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.000	U	0.998	N	0.805	L	1.47	T	-1.056	T	0.056	T	0.441	1.930	12.41	2.23	0.221	0.054	7.038	0.127	0.0652383126068	.	0.000794702	0.0007	0.0001	0.0002	0	0	0.0004	0.0018	0.0044	0.0006921	107	154602	rs183198624	0.0008	0.0008	0.0008	0.0009	0.0038	0.0007	0.0007	0.0034	0.0032	0.0002	0.0002	0	0	2.524e-05	0.0017	0.0007	0.0008	0.0038	0.0004	0.0004	0.0004	0.0005	0.0038	0.0003	0.0003	0.0021	0.0016	9.667e-05	0	0.0004	0	0	0.0002	0.0046	0.0005	0	0.0038	0.0	0.91255	D	0.063	0.45530	T	.	.	.	.	.	.	0.000006	0.62929	U	0.082167	0.997733	0.22531	N	1.04	0.26193	L	1.45	0.32482	T	-2.6	0.55983	D	0.14	0.13911	-1.0557	0.12855	T	0.056	0.23527	T	8	0.007292986	0.00166	T	0.065238	0.69520	D	0.127	0.34888	0.218	0.13932	0.608580257953	0.60543	0.67164521694929	0.67102	0.569153236508	0.53102	.	.	.	0.023209	0.23671	T	-0.536247	0.00353	T	-0.545794	0.17731	T	0.083960442782192	0.10486	T	0.920008	0.71084	D	0.8340422	0.86185	0.5758274	0.75426	0.8340422	0.86187	0.5758274	0.75427	-6.226	0.48133	T	.	.	0.982	0.91596	P	.;.	.;.	3.071420	0.41283	21.3	0.99764940187147133	0.85417	0.92405	0.55636	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00421815359590133	0.10461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	2.23	0.27189	0.104000	0.15148	1.898000	0.29563	0.547000	0.25779	0.969000	0.34210	1.000000	0.68203	0.976000	0.56436	0.0:0.5763:0.0:0.4237	7.038	0.24184	26	0.98304	.;.	.	.	.	.	.	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	3485.08	34	chrX	107602107	.	C	G	3485.08	.	AC=2;AF=0.048;AN=42;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.29;SOR=0.932	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3513,357,0	20	1	0	0
chrX	108159632	108159632	C	T	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287760:exon42:c.G4471A:p.A1491T	.	.	0	1513	8	1	0	10	0.00329381	.	.	971170	COL4A6-related_disorder|Hearing_loss,_X-linked_6|not_provided	.|MONDO:MONDO:0010484,MedGen:C3806737,OMIM:300914,Orphanet:90625|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.998	D	0.001	D	1.000	D	2.46	M	-1.63	D	0.479	D	0.720	D	0.744	3.711	18.85	5.06	2.440	7.740	18.237	0.748	0.150641491302	.	.	0.0001	0	0	0.0002	0	0.0001	0	0.0005	0.00011	17	154602	rs766360534	4.917e-05	4.917e-05	4.9e-05	4.951e-05	0.0007	3.851e-05	3.45e-05	0.0003	0.0002	0	5.681e-05	0	6.622e-05	0	0.0007	2.731e-05	4.339e-05	0.0004	2.672e-05	2.613e-05	1.285e-05	5.801e-05	0.0004	7.1e-06	2.97e-06	.	.	0	0	0	0	0	0	0	1.879e-05	0.0007	0.0004	0.003	0.68238	D	0.01	0.66756	D	1.0	0.90584	D	0.993	0.88582	D	0.000745	0.42006	D	0.000000	0.999997	0.58761	D	2.425	0.70256	M	-1.63	0.82440	D	-3.28	0.67241	D	0.418	0.57860	0.479	0.90249	D	0.720	0.90386	D	10	0.2763505	0.45197	T	0.150641	0.83230	D	0.748	0.91328	0.762	0.89053	0.848369474167	0.84691	0.6729600340067433	0.67234	0.190246609254	0.21341	0.615258216858	0.55058	T	0.664135	0.89956	D	0.0644454	0.60168	T	0.167174	0.81240	D	0.238515871040428	0.22350	T	0.937806	0.76632	D	0.48596403	0.66260	0.61991	0.77861	0.48596403	0.66261	0.61991	0.77862	-6.735	0.52073	T	.	.	0.136	0.29642	B	.;.;.;.;.;.	.;.;.;.;.;.	3.962169	0.58118	23.9	0.99718338485904323	0.81843	0.98362	0.82008	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999999992476	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	5.06	0.67838	7.905000	0.86479	3.645000	0.39359	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.891000	0.42908	0.0:1.0:0.0:0.0	18.237	0.89888	96	0.96030	.;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous	.	.	.	.	.	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	0.04762	3751.08	36	chrX	108159632	.	C	T	3751.08	.	AC=2;AF=0.048;AN=42;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.79;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3779,354,0	20	1	0	0
chrX	112454805	112454805	G	A	exonic	RTL4	.	nonsynonymous SNV	RTL4:NM_001004308:exon3:c.G77A:p.R26Q,	.	.	.	.	.	.	.	.	.	.	.	3313569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.003	B	0.0	B	0.777	N	1.000	N	-0.255	N	1.03	T	-1.017	T	0.038	T	0.048	-2.272	0.004	0.132	-0.036	-0.224	3.292	0.020	0.00290403788605	.	.	2.355e-05	0	0	0	0	4.233e-05	0	0	7.68e-05	2	26028	rs755353797	9.03e-05	9.014e-05	8.306e-05	0.0001	0.0001	7.559e-05	7.013e-05	8.849e-05	8.247e-05	0	0	0	0	0	0	0.0001	0.0002	3.723e-05	8.103e-05	8.711e-05	7.716e-05	9.007e-05	0.0002	4.204e-05	3.152e-05	8.752e-05	6.55e-05	0	0	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.0	0.01387	B	0.777208	0.06632	N	1.168870	1	0.08975	N	.	.	.	1.03	0.40469	T	1.23	0.01037	N	0.026	0.00527	-1.0172	0.24625	T	0.038	0.16203	T	10	0.07135719	0.10508	T	0.002904	0.06133	T	0.020	0.03691	0.443	0.49975	0.377451072189	0.37352	0.059639761306108804	0.05903	0.0133904734343	0.01285	0.182704076171	0.00121	T	0.005209	0.04657	T	-0.699559	0.00037	T	-1.02731	0.00094	T	0.017898575243346	0.00517	T	0.491551	0.15120	T	0.022533722	0.00923	0.05145711	0.08286	0.022533722	0.00922	0.05145711	0.08285	-2.836	0.08520	T	.	.	0.059	0.00754	B	.	.	-0.837434	0.01036	0.044	0.22613562944109791	0.00918	0.00140	0.00856	N	AEFBI	.	.	.	.	.	.	.	.	.	1.16016045351032E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19	0.132	0.14061	-0.233000	0.09056	0.267000	0.16613	-1.585000	0.00913	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5601:0.2067:0.2332:0.0	3.292	0.06544	821	0.40814	.	.	.	.	.	.	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	2723.08	36	chrX	112454805	.	G	A	2723.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.62;SOR=1.058	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2751,243,0	20	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:20,12:32:48:48,0,250	5	0	16	0
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	1/1:0,220,0:220:99:.:.:6719,660,0,6719,660,6719	4	11	2	2
chrY	9467432	9467432	C	G	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.C432G:p.H144Q	.	.	1129	390	2	1	0	4	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.996	D	.	.	.	.	2.07	M	1.75	T	-1.069	T	0.073	T	0.268	0.948	8.866	.	-0.000	0.271	.	0.073	0.978378320157	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772185599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.013	0.63109	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	.	.	.	2.345	0.67358	M	1.75	0.26152	T	-5.99	0.89401	D	0.225	0.25253	-1.0690	0.09634	T	0.073	0.29515	T	5	0.10270485	0.18840	T	0.978378	0.99882	D	0.073	0.21317	.	.	0.193865811164	0.18958	0.12784609756287668	0.12709	.	.	.	.	.	0.10629	0.41750	T	-0.277042	0.10984	T	-0.635728	0.09984	T	0.880145311355591	0.53014	D	0.480552	0.15143	T	0.5745436	0.71310	0.40950003	0.65237	0.5745436	0.71311	0.40950003	0.65237	-6.135	0.47395	T	.	.	0.639	0.70690	P	.;.	.;.	1.268877	0.16672	12.69	0.83918520770427629	0.14993	0.04546	0.10183	N	AEF	.	.	.	.	.	.	.	.	.	1.09506468559346E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.187000	0.31699	.	.	0.200000	0.17917	0.934000	0.32416	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	.;.	.	.	.	.	.	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	0.3333	141.2	61	chrY	9467432	.	C	G	141.2	.	AC=4;AF=0.333;AN=12;DP=61;ExcessHet=0.0000;FS=0.000;MLEAC=6;MLEAF=0.500;MQ=26.77;QD=28.24;SOR=3.611	GT:AD:DP:GQ:PL	1/1:0,2:2:6:55,6,0	4	2	0	15